1 Pediatric conditions Hand notes

Pediatric

conditions

Hand Book:

OCP 103

2 Pediatric conditions Hand notes

CHAPTERS TITLES

1

CHILDREN WITH

PHYSICAL CONDITIONS

CONGENITAL

ANOMALIES

Skeletal defects affecting

the nervous system:

Spina bifida

Hydrocephalus

Orthopaedic anomalies:

Osteogenesis

imprefecta

Arthrogryposis

Multiplex Congenital

Talipes Equinovarus

Torticollis

Congenital Hip

Dislocation

Sequelae of Prematurity

Hypotonia

Neuromuscular Disorder

Cerebral palsy

Chronic Diseases

Chronic Cardiac

Condition

Traumatic Injuries

Fractures

Head Injuries

Sensory Impairments

2 Children with movement

disorder

Ataxia

Cortixcobasal

degeneration

Dyskinesis(paroxysm

al)

Dystonia

Hereditary spastic

diplegia

Myoclonus

Torticollis

Tics/ tourette’s

syndrome

Rett syndrome

3

Children With

Developmental Disabilities

Down’s syndrome

4 Children with Cognitive

Dysfunctions

Mental retardation

Autism

Attention deficit

disorder(ADD)

Attention deficit

hyperactivity

disorder(ADHD)

5 Children with sensory

deficits

Deafness

Visual receptive

deficit

Visual perceptive

deficit

Head injury

Deaf and blind

3 Pediatric conditions Hand notes

Congenital Anomalies

Definition

A congenital anomaly (congenital

abnormality, congenital malformation, birth

defect) is a condition which is present at the

time of birth which varies from the standard

presentation

Causes

The cause of 40-60% of congenital

anomalies in humans is unknown. These are

referred to as sporadic, a term that implies

an unknown cause, random occurrence

regardless of maternal living conditions, and

a low recurrence risk for future children. For

20-25% of anomalies there seems to be a

"multifactorial" cause, meaning a complex

interaction of multiple minor genetic

anomalies with environmental risk factors.

Another 10-13% of anomalies have a purely

environmental cause (e.g. Infections, illness,

or drug abuse in the mother). Only 12-25%

of anomalies have a purely genetic cause. Of

these, the majority are chromosomal

anomalies.

Genetic causes of congenital anomalies

include inheritance of abnormal genes from

the parents, as well as new mutations in one

of the germ cells that gave rise to the fetus.

Environmental causes of congenital

anomalies are referred to as teratogenic.

These are generally problems with the

mother's environment. Teratogens can

include dietary deficiencies, toxins, or

infections. For example, dietary deficiency

of maternal folic acid is associated with

spina bifida. Ingestion of harmful substances

by the mother (e.g., alcohol, mercury, or

prescription drugs such as phenytoin) can

cause recognizable combinations of birth

defects.

Several infections which a mother can

contract during pregnancy can also be

teratogenic. These are referred to as the

torch infections.

Teratogens

The greatest risk of a malformation due to

environmental exposure to a teratogen

(terato = monster, gen = producing) between

the third and eighth week of gestation.

Before this time, any damage to the embryo

is likely to result in fatality, and the baby

will not be born. After eight weeks, the fetus

and its organs are more developed and less

sensitive to terotogenic incidents.

4 Pediatric conditions Hand notes

Type of congenital anomalies

-a limb anomaly is called a dysmelia. These

include all forms of limbs anomalies, such

as amelia, ectrodactyly, phocomelia,

polymelia, polydactyly, syndactyly,

polysyndactyly, oligodactyly,

brachydactyly, achondroplasia, congenital

aplasia or hypoplasia, amniotic band

syndrome, and cleidocranial dysostosis.

Congenital anomalies of the heart include

patent ductus arteriosus, atrial septal defect,

ventricular septal defect, and tetralogy of

fallot. Helen taussig has been a major force

in research on congenital anomalies of the

heart.

Congenital anomalies of the nervous system

include neural tube defects such as spina

bifida, meningocele, meningomyelocele,

encephalocele and anencephaly. Other

congenital anomalies of the nervous system

include the arnold-chiari malformation, the

dandy-walker malformation, hydrocephalus,

microencephaly, megencephaly,

lissencephaly, polymicrogyria,

holoprosencephaly, and agenesis of the

corpus callosum.

Congenital anomalies of the gastrointestinal

system include numerous forms of stenosis

and atresia, and imperforate.

Primarily structural

Several terms are used to describe

congenital abnormalities. (some of these are

also used to describe noncongenital

conditions, and more than one term may

apply in an individual condition.)

A congenital physical anomaly is an

abnormality of the structure of a body

part. An anomaly may or may not be

perceived as a problem condition. Many,

if not most, people have one or more

minor physical anomalies if examined

carefully. Examples of minor anomalies

can include curvature of the 5th finger

(clinodactyly), a third nipple, tiny

indentations of the skin near the ears

(preauricular pits), shortness of the 4th

metacarpal or metatarsal bones, or

dimples over the lower spine (sacral

dimples). Some minor anomalies may be

clues to more significant internal

abnormalities.

Birth defect is a widely used term for a

congenital malformation, i.e. A

congenital, physical anomaly which is

recognizable at birth, and which is

significant enough to be considered a

problem. According to the cdc, most

birth defects are believed to be caused

by a complex mix of factors including

5 Pediatric conditions Hand notes

genetics, environment, and behaviors,

although many birth defects have no

known cause. An example of a birth

defect is cleft palate.

A congenital malformation is a

congenital physical anomaly that is

deleterious, i.e. A structural defect

perceived as a problem. A typical

combination of malformations affecting

more than one body part is referred to as

a malformation syndrome.

Some conditions are due to abnormal

tissue development:

o A malformation is associated with

a disorder of tissue development.

Malformations often occur in the

first trimester.

o A dysplasia is a disorder at the

organ level that is due to problems

with tissue development.

It is also possible for conditions to arise

after tissue is formed:

o A deformation is a condition

arising from mechanical stress to

normal tissue deformations often

occur in the second or third

semester, and can be due to

oligohydramnios.

A disruption involves breakdown of

normal tissues.

When multiple effects occur in a

specified order, it is known as a

sequence. When the order is not known,

it is a syndrome.

Causes of fetal malformation:

Several factors are known to produces

malformations of the developing fetus.

These are environmental factors like use of

drugs, radiation, viruses, genetic traits in one

or both parents, and as interaction of the

environmental and hereditary influences.

Nurses are mainly concerned with the

environmental influences since they are

controllable in many instances so that birth

defects can be prevented.

1. Drugs:

Drugs in general carry such a potential

for the production of birth defects that their

use during pregnancy is strongly

discouraged. Use of street drugs like heroin

or hashish by pregnant women could be

responsible for soon congenital anomalies.

Alcohol also appears to influence fetal

development and its excessive use during

pregnancy can produce fetal malformations.

2. Radiation:

Exposure of the mother to radiation

has been shown to cause birth defects,

the earlier in pregnancy the exposure,

6 Pediatric conditions Hand notes

the more extensive is the fetal damage.

Exposure at later gestational stages

may result in less apparent deviations.

Atmospheric or environmental radio

contamination also contributes to the

risk of fetal deviations (as in nuclear

accidents or testing of nuclear

weapons).

3. Viruses:

Like rubella virus (that causes

german measles). Whether infection of

the mother during pregnancy procedures

deformities in the fetus depends upon the

nature of the infectious organism, the

development stage of the fetus at the

time it is exposed to the organism; other

factors such as the mother‘s antibody

titer and other variables not yet

understood.

4. Genetic traits:

Probably all human characteristics

have a genetic component, including those

that produce symptoms or physical

abnormalities that impair the fitness of the

person. Some disorder or disease occurs

through the influence of a single gene or

combined action of many genes inherited

from the parents; others result from the

action of the intrauterine environment that

affects the embryonic development.

Note: contained within the nucleus of every

somatic cell in the human body are more

than 200.000 genes, the genetic material

responsible for programming the body‘s

physiologic process and characteristics.

These genes are composed of segments of

dna (deoxyribonucleic acid) and are

organized into structure called

chromosomes, which are visible only during

certain stage of cell division. Alteration of a

whole chromosome, a part of a chromosome

or even a single gene can manifest a genetic

disorder.

Defects

Skeletal defects affecting the nervous

system:

1. Spina bifida: is a defective closure of the

vertebral column. Whether the defect will

have devastating consequences for the

neonates depends entirely on the site and the

extent of the anomaly. It is more common in

the lumbo sacral region. It has varying

degree of tissue protrusion through the bony

cleft.

2. Spina bifida occulta: usually the 5th

lumber and 1st sacral vertebrae are affected

with no protrusion of interspinal contents the

spinal cord and its cover the skin over the

defect may reveal a dimple, small fatty

mass, or a tuft of hair. The defect is only in

7 Pediatric conditions Hand notes

the vertebra, the spinal cord and meneiges is

normal and not visible.

3. Meningocle: is a protrusion through the

spinal bifida, which forms a soft, saclike

appearance along the spinal axis and

contains spinal fluid and meninges within

the sac and covered with skin.

4. Meningomyelocele: is a more serious

defect in which the spinal cord and /or nerve

roots as well as meningoel covering protrude

through the spina bifida. The degree and

extent of neurogenice defect depend on the

level of the defect. The higher the level the

greater the defect. If in the lumbosacral area,

the usual of the defect is associated with a

flaccid paralysis of the lower extremities,

absent sensation to the level of the lesion,

and loss of bowel and bladder control.

5. Hydrocephalus: the abnormal increase in

cerebrospinal fluid volume within the

intracranial cavity due to a defect in the

cerebrospinal fluid drainage system,

intracranial pressure increases, the scalp

veins dilate, and the cranial suture begin to

separate.

8 Pediatric conditions Hand notes

Spina bifida

Definition:

Spina bifida (Latin: "split spine") is a

developmental congenital disorder caused

by the incomplete closing of the embryonic

neural tube.

Some vertebrae overlying the spinal cord are

not fully formed and remain unfused and

open. If the opening is large enough, this

allows a portion of the spinal cord to

protrude through the opening in the bones.

There may or may not be a fluid-filled sac

surrounding the spinal cord. Other neural

tube defects include anencephaly, a

condition in which the portion of the neural

tube which will become the cerebrum does

not close, and encephalocele, which results

when other parts of the brain remain

unfused.

Spina bifida malformations fall into four

categories:

spina bifida occulta,

spina bifida cystica

(myelomeningocele),

meningocele and

lipomeningocele.

The most common location of the

malformations is the lumbar and sacral

areas. Myelomeningocele is the most

significant form and it is this that leads to

disability in most affected individuals. The

terms spina bifida and myelomeningocele

are usually used interchangeably.

Spina bifida can be surgically closed after

birth, but this does not restore normal

function to the affected part of the spinal

cord. Intrauterine surgery for spina bifida

has also been performed and the safety and

efficacy of this procedure is currently being

investigated. The incidence of spina bifida

can be decreased by up to 70% when daily

folic acid supplements are taken prior to

conception.

Spina bifida occulta

X-ray image of Spina bifida occulta in S-1

Unfused arch of C1 at CT.

Classification

Occulta is Latin for "hidden". This is

the mildest forms of spina bifida.

In occulta, the outer part of some of

the vertebrae is not completely

closed. The split in the vertebrae is

so small that the spinal cord does not

protrude. The skin at the site of the

lesion may be normal, or it may have

9 Pediatric conditions Hand notes

some hair growing from it; there may

be a dimple in the skin, or a

birthmark.

Many people with the mildest form

of this type of spina bifida do not

even know they have it, as the

condition is asymptomatic in most

cases. The incidence of spina bifida

occulta is approximately 10% of the

population, and most people are

diagnosed incidentally from spinal

X-rays. A systematic review of

radiographic research studies found

no relationship between spina bifida

occulta and back pain. More recent

studies not included in the review

support the negative findings.

However, other studies suggest spina

bifida occulta is not always harmless.

One study found that among patients

with back pain, severity is worse if

spina bifida occulta is present.

Spina bifida cystica

In spina bifida cystica, a cyst

protrudes through the defect in the

vertebral arch. These conditions can

be diagnosed in utero on the basis of

elevated levels of alpha-fetoprotein,

after amniocentesis, and by

ultrasound imaging. Spina bifida

cystica may result in hydrocephalus

and neurological deficits.

Meningocele

The least common form of spina

bifida is a posterior meningocele (or

meningeal cyst).

In a posterior meningocele, the

vertebrae develop normally, however

the meninges are forced into the gaps

between the vertebrae. As the

nervous system remains undamaged,

individuals with meningocele are

unlikely to suffer long-term health

problems, although there are reports

of tethered cord. Causes of

meningocele include teratoma and

other tumors of the sacrococcyx and

of the presacral space, and Currarino

syndrome, Bony defect with

outpouching of meninges.[11]

A meningocele may also form

through dehiscences in the base of

skull. These may be classified by

their localisation to occipital,

frontoethmoidal, or nasal. Endonasal

meningoceles lie at the roof of the

nasal cavity and may be mistaken for

a nasal polyp. They are treated

surgically. Encephalomeningoceles

are classified in the same way and

also contain brain tissue.

Myelomeningocele

Myelomeningocele in the lumbar area.

1. External sac with cerebrospinal fluid.

2. Spinal cord wedged between the

vertebrae.

In this, a serious and common form,

the unfused portion of the spinal

10 Pediatric conditions Hand notes

column allows the spinal cord to

protrude through an opening. The

meningeal membranes that cover the

spinal cord form a sac enclosing the

spinal elements. Spina bifida with

myeloschisis is the most severe form

of spina bifida cystica. In this defect,

the involved area is represented by a

flattened, plate-like mass of nervous

tissue with no overlying membrane.

The exposure of these nerves and

tissues make the baby more prone to

life-threatening infections.

The protruded portion of the spinal

cord and the nerves which originate

at that level of the cord are damaged

or not properly developed. As a

result, there is usually some degree

of paralysis and loss of sensation

below the level of the spinal cord

defect. Thus, the higher the level of

the defect the more severe the

associated nerve dysfunction and

resultant paralysis. People may have

ambulatory problems, loss of

sensation, deformities of the hips,

knees or feet and loss of muscle tone.

Depending on the location of the

lesion, intense pain may occur

originating in the lower back, and

continuing down the leg to the back

of the knee.]

Many individuals with spina bifida

will have an associated abnormality

of the cerebellum, called the Arnold

Chiari II malformation. In affected

individuals the back portion of the

brain is displaced from the back of

the skull down into the upper neck.

In approximately 90 percent of the

people with myelomeningocele,

hydrocephalus will also occur

because the displaced cerebellum

interferes with the normal flow of

cerebrospinal fluid.

The myelomeningocele (or perhaps

the scarring due to surgery) tethers

the spinal cord. In some individuals

this causes significant traction on the

spinal cord and can lead to a

worsening of the paralysis, scoliosis,

back pain, or worsening bowel

and/or bladder function.[14]

Signs and symptoms

Children with spina bifida often have

hydrocephalus, which consists of

excessive accumulation of

cerebrospinal fluid in the ventricles

of the brain.

Incontinence is also common.

According to the Spina Bifida

Association of America (SBAA),

over 73 percent of people with spina

bifida develop an allergy to latex,

ranging from mild to life-

threatening. The common use of

latex in medical facilities makes this

a particularly serious concern.

Pathophysiology

Spina bifida is caused by the failure

of the neural tube to close during the

first month of embryonic

development (often before the

mother knows she is pregnant).

Normally the closure of the neural

tube occurs around the 23rd (rostral

closure) and 27th (caudal closure)

day after fertilization. However, if

something interferes and the tube

fails to close properly, a neural tube

defect will occur. Medications such

as some anticonvulsants, diabetes,

having a relative with spina bifida,

obesity, and an increased body

temperature from fever or external

sources such as hot tubs and electric

blankets may increase the chances of

11 Pediatric conditions Hand notes

conception of a baby with a spina

bifida. However, most women who

give birth to babies with spina bifida

have none of these risk factors, and

so in spite of much research, it is still

unknown what causes the majority of

cases.]

Extensive evidence from mouse

strains with spina bifida indicates

that there is sometimes a genetic

basis for the condition. In human

spina bifida, as with other human

diseases such as cancer, hypertension

and atherosclerosis (coronary artery

disease), spina bifida likely results

from the interaction of multiple

genes and environmental factors.

Research has shown that lack of folic

acid (folate) is a contributing factor

in the pathogenesis of neural tube

defects, including spina bifida.

Supplementation of the mother's diet

with folate can reduce the incidence

of neural tube defects by about 70

percent, and can also decrease the

severity of these defects when they

occur. It is unknown how or why

folic acid has this effect.

Spina bifida does not follow direct

patterns of heredity like muscular

dystrophy or haemophilia. Studies

show that a woman, who has had one

child with a neural tube defect such

as spina bifida, has about a three

percent risk of having another child

with a neural tube defect. This risk

can be reduced to about one percent

if the woman takes high doses (4

mg/day) of folic acid before and

during pregnancy. For the general

population, low-dose folic acid

supplements are advised

(0.4 mg/day).

Prevention

There is no single cause of spina

bifida or any known way to prevent

it entirely. However, dietary

supplementation with folic acid has

been shown to be helpful in

preventing spina bifida (see above).

Sources of folic acid include whole

grains, fortified breakfast cereals,

dried beans, leaf vegetables and

fruits[

Folate fortification of enriched grain

products has been mandatory in the

United States since 1998. The U.S.

Food and Drug Administration,

Public Health Agency of Canada and

UK recommended amount of folic

acid for women of childbearing age

and women planning to become

pregnant is at least 0.4 mg/day of

folic acid from at least three months

before conception, and continued for

the first 12 weeks of pregnancy.

Women who have already had a

baby with spina bifida or other type

of neural tube defect, or are taking

anticonvulsant medication should

take a higher dose of 4–5 mg/day.

Certain mutations in the gene

VANGL1 are implicated as a risk

factor for spina bifida: these

mutations have been linked with

spina bifida in some families with a

history of spina bifida.

Pregnancy screening

Neural tube defects can usually be

detected during pregnancy by testing

the mother's blood (AFP screening)

or a detailed fetal ultrasound.

Increased levels of maternal serum

alpha-fetoprotein (MSAFP) should

be followed up by two tests - an

ultrasound of the fetal spine and

12 Pediatric conditions Hand notes

amniocentesis of the mother's

amniotic fluid (to test for alpha-

fetoprotein and acetylcholinesterase).

Spina bifida may be associated with

other malformations as in

dysmorphic syndromes, often

resulting in spontaneous miscarriage.

However, in the majority of cases

spina bifida is an isolated

malformation.

Genetic counseling and further

genetic testing, such as

amniocentesis, may be offered

during the pregnancy as some neural

tube defects are associated with

genetic disorders such as trisomy 18.

Ultrasound screening for spina bifida

is partly responsible for the decline

in new cases, because many

pregnancies are terminated out of

fear that a newborn might have a

poor future quality of life. With

modern medical care, the quality of

life of patients has greatly

improved.[16]

Treatment

There is no known cure for nerve

damage due to spina bifida. To

prevent further damage of the

nervous tissue and to prevent

infection, pediatric neurosurgeons

operate to close the opening on the

back. During the operation for spina

bifida cystica, the spinal cord and its

nerve roots are put back inside the

spine and covered with meninges. In

addition, a shunt may be surgically

installed to provide a continuous

drain for the cerebrospinal fluid

produced in the brain, as happens

with hydrocephalus. Shunts most

commonly drain into the abdomen.

However, if spina bifida is detected

during pregnancy, then open fetal

surgery can be performed.

Most individuals with

myelomeningocele will need

periodic evaluations by specialists

including orthopedists to check on

their bones and muscles,

neurosurgeons to evaluate the brain

and spinal cord and urologists for the

kidneys and bladder. Such care is

best begun immediately after birth.

Most affected individuals will need

to see an orthotist in regards to

braces, crutches, walkers or

wheelchairs to maximize their

mobility. As a general rule, the

higher the level of the spina bifida

defect the more severe the paralysis,

but paralysis does not always occur.

Thus, those with low levels may

need only short leg braces while

those with higher levels do best with

a wheelchair, and some may be able

to walk unaided. Many will need to

manage their urinary system with a

program of catheterization. Most will

also require some sort of bowel

management program, though some

may be virtually unaffected.

Fetal surgery clinical trials

Management of Myelomeningocele Study

(MOMS) is a phase III clinical trial to

evaluate the safety and efficacy of fetal

surgery to close a myelomeningocele. This

involves surgically opening the pregnant

mother's abdomen and uterus to operate on

the fetus. This route of access to the fetus is

called "open fetal surgery". Fetal skin grafts

are used to cover the exposed spinal cord, to

protect it from further damage caused by

prolonged exposure to amniotic fluid. The

fetal surgery may decrease some of the

damaging effects of the spina bifida, but at

13 Pediatric conditions Hand notes

some risk to both the fetus and the pregnant

woman.

The MOMS trial was closed for efficacy in

December 2010 based on comparing

outcomes after prenatal and postnatal repair

in 183 patients.

The trial demonstrated that outcomes after

prenatal spina bifida treatment are improved

to the degree that the benefits of the surgery

outweigh the maternal risks. Results were

reported in the New England Journal of

Medicine by Adzick et al.

Specifically, the study found that prenatal

repair resulted in:

Reversal of the hindbrain herniation

component of the Chiari II malformation

Reduced need for ventricular shunting (a

procedure in which a thin tube is

introduced into the brain‘s ventricles to

drain fluid and relieve hydrocephalus)

Reduced incidence or severity of

potentially devastating neurologic

effects caused by the spine‘s exposure to

amniotic fluid, such as impaired motor

function

In contrast to the open fetal operative

approach tested in the MOMS, a minimally

invasive approach is currently being tested

by the German Center for Fetal Surgery &

Minimally Invasive Therapy at the

University of Giessen, Germany.[ This

minimally invasive approach uses three

small tubes (trocars) with an external

diameter of 5 mm that are directly placed via

small needle punctures through the maternal

abdominal wall into the uterine cavity. Via

this route, the unborn can be postured and its

spina bifida defect is closed using small

instruments. In contrast to open fetal surgery

for spina bifida, the fetoscopic approach

results in fewer traumas to the mother as

large incisions of her abdomen and uterus

are not required. Early results indicate that

the approach may maintain the fetal

muscular and sensory function that is still

present at the time of fetal surgery,

regardless of lesion height.

References:

1. "What Is Spina Bifida?". ASBAH.

http://www.asbah.org/Spina+Bifida/i

nformationsheets/whatisspinabifida.h

tm. Retrieved 2009-02-14.

2. Foster, Mark R. "Spina Bifida".

http://www.emedicine.com/orthoped/

TOPIC557.HTM. Retrieved 2008-

05-17.

3. "Spina Bifida Occulta". ASBAH.

http://www.asbah.org/Spina+Bifida/i

nformationsheets/spinabifidaocculta.

htm. Retrieved 2009-02-14.

4. Saluja PG (1988). "The incidence of

spina bifida occulta in a historic and

a modern London population.". J

Anat. 158: 91–93. PMC 1261979.

5. van Tulder MW, Assendelft WJ,

Koes BW, Bouter LM (1997).

"Spinal radiographic findings and

nonspecific low back pain. A

systematic review of observational

studies". Spine 22 (4): 427–34.

doi:10.1097/00007632-199702150-

00015. PMID 9055372.

14 Pediatric conditions Hand notes

Hydrocephalus

Hydrocephalus also known as "water on the

brain," is a medical condition in which there

is an abnormal accumulation of

cerebrospinal fluid (CSF) in the ventricles,

or cavities, of the brain. This may cause

increased intracranial pressure inside the

skull and progressive enlargement of the

head, convulsion, tunnel vision, and mental

disability. Hydrocephalus can also cause

death.

Clinical presentation

The clinical presentation of hydrocephalus

varies with chronicity. Acute dilatation of

the ventricular system is more likely to

manifest with the nonspecific signs and

symptoms of increased intracranial pressure.

By contrast chronic dilatation (especially in

the elderly population) may have a more

insidious onset presenting, for instance, with

Hakim's triad (Adams triad).

Symptoms of increased intracranial pressure

may include headaches, vomiting, nausea,

papilledema, sleepiness or coma. Elevated

intracranial pressure may result in uncal

and/or cerebellar tonsill herniation, with

resulting life threatening brain stem

compression.

Hakim's triad of gait instability, urinary

incontinence and dementia is a relatively

typical manifestation of the distinct entity

normal pressure hydrocephalus (NPH).

Focal neurological deficits may also occur,

such as abducens nerve palsy and vertical

gaze palsy (Parinaud syndrome due to

compression of the quadrigeminal plate,

where the neural centers coordinating the

conjugated vertical eye movement are

located). The symptoms depend on the cause

of the blockage, the person's age, and how

much brain tissue has been damaged by the

swelling.

In infants with hydrocephalus, CSF builds

up in the central nervous system, causing the

fontanelle (soft spot) to bulge and the head

to be larger than expected. Early symptoms

may also include:

Eyes that appear to gaze downward

(Sundowning)

Irritability

Seizures

Separated sutures

Sleepiness

Vomiting

Symptoms that may occur in older children

can include:

Brief, shrill, high-pitched cry

Changes in personality, memory, or the

ability to reason or think

Changes in facial appearance and eye

spacing

Crossed eyes or uncontrolled eye

movements

Difficulty feeding

Excessive sleepiness

Headache

Irritability, poor temper control

Loss of bladder control (urinary

incontinence)

Loss of coordination and trouble

walking

Muscle spasticity (spasm)

Slow growth (child 0–5 years)

Slow or restricted movement

Vomiting

Pathology

Hydrocephalus is usually due to

blockage of cerebrospinal fluid

(CSF) outflow in the ventricles or in

the subarachnoid space over the

15 Pediatric conditions Hand notes

brain. In a person without

hydrocephalus, CSF continuously

circulates through the brain, its

ventricles and the spinal cord and is

continuously drained away into the

circulatory system. Alternatively, the

condition may result from an

overproduction of the CSF fluid,

from a congenital malformation

blocking normal drainage of the

fluid, or from complications of head

injuries or infections.

Compression of the brain by the

accumulating fluid eventually may

cause convulsions and mental

retardation. These signs occur sooner

in adults, whose skulls no longer are

able to expand to accommodate the

increasing fluid volume within.

Fetuses, infants, and young children

with hydrocephalus typically have an

abnormally large head, excluding the

face, because the pressure of the

fluid causes the individual skull

bones — which have yet to fuse —

to bulge outward at their juncture

points. Another medical sign, in

infants, is a characteristic fixed

downward gaze with whites of the

eyes showing above the iris, as

though the infant were trying to

examine its own lower eyelids.

Spontaneous intracerebral and

intraventricular hemorrhage with

hydrocephalus shown on CT scan

The elevated intracranial pressure

may cause compression of the brain,

leading to brain damage and other

complications. Conditions among

affected individuals vary widely.

If the foramina (pl.) of the fourth

ventricle or the cerebral aqueduct are

blocked, cereobrospinal fluid (CSF)

can accumulate within the ventricles.

This condition is called internal

hydrocephalus and it results in

increased CSF pressure. The

production of CSF continues, even

when the passages that normally

allow it to exit the brain are blocked.

Consequently, fluid builds inside the

brain causing pressure that

compresses the nervous tissue and

dilates the ventricles. Compression

of the nervous tissue usually results

in irreversible brain damage. If the

skull bones are not completely

ossified when the hydrocephalus

occurs, the pressure may also

severely enlarge the head. The

cerebral aqueduct may be blocked at

the time of birth or may become

blocked later in life because of a

tumor growing in the brainstem.

Internal hydrocephalus can be

successfully treated by placing a

drainage tube (shunt) between the

brain ventricles and abdominal

cavity to eliminate the high internal

pressures. There is some risk of

infection being introduced into the

brain through these shunts, however,

and the shunts must be replaced as

the person grows. A subarachnoid

hemorrhage may block the return of

CSF to the circulation. If CSF

accumulates in the subarachnoid

16 Pediatric conditions Hand notes

space, the condition is called

external hydrocephalus. In this

condition, pressure is applied to the

brain externally, compressing neural

tissues and causing brain damage.

Thus resulting in further damage of

the brain tissue and leading to

necrotization.

Classification

Hydrocephalus can be caused by impaired

cerebrospinal fluid (CSF) flow,

reabsorption, or excessive CSF production.

The most common cause of

hydrocephalus is CSF flow obstruction,

hindering the free passage of

cerebrospinal fluid through the

ventricular system and subarachnoid

space (e.g., stenosis of the cerebral

aqueduct or obstruction of the

interventricular foramina - foramina of

Monro secondary to tumors,

hemorrhages, infections or congenital

malformations).

Hydrocephalus can also be caused by

overproduction of cerebrospinal fluid

(relative obstruction) (e.g., papilloma of

choroid plexus).

Based on its underlying mechanisms,

hydrocephalus can be classified into

communicating and non-communicating

(obstructive). Both forms can be either

congenital or acquired.

Communicating

Communicating hydrocephalus, also known

as non-obstructive hydrocephalus, is caused

by impaired cerebrospinal fluid resorption in

the absence of any CSF-flow obstruction

between the ventricles and subarachnoid

space. It has been theorized that this is due

to functional impairment of the arachnoid

granulations, which are located along the

superior sagittal sinus and is the site of

cerebrospinal fluid resorption back into the

venous system. Various neurologic

conditions may result in communicating

hydrocephalus, including

subarachnoid/intraventricular hemorrhage,

meningitis and congenital absence of

arachnoidal granulations (Pacchioni's

granulations). Scarring and fibrosis of the

subarachnoid space following infectious,

inflammatory, or hemorrhagic events can

also prevent resorption of CSF, causing

diffuse ventricular dilatation.

Normal pressure hydrocephalus (NPH)

is a particular form of communicating

hydrocephalus, characterized by

enlarged cerebral ventricles, with only

intermittently elevated cerebrospinal

fluid pressure. The diagnosis of NPH

can be established only with the help of

continuous intraventricular pressure

recordings (over 24 hours or even

longer), since more often than not

instant measurements yield normal

pressure values. Dynamic compliance

studies may be also helpful. Altered

compliance (elasticity) of the ventricular

walls, as well as increased viscosity of

the cerebrospinal fluid, may play a role

in the pathogenesis of normal pressure

hydrocephalus.

Hydrocephalus ex vacuo also refers to

an enlargement of cerebral ventricles

and subarachnoid spaces, and is usually

due to brain atrophy (as it occurs in

dementias), post-traumatic brain injuries

and even in some psychiatric disorders,

such as schizophrenia. As opposed to

hydrocephalus, this is a compensatory

enlargement of the CSF-spaces in

response to brain parenchyma loss - it is

not the result of increased CSF pressure.

17 Pediatric conditions Hand notes

Non-communicating

Non-communicating hydrocephalus, or

obstructive hydrocephalus, is caused by a

CSF-flow obstruction ultimately preventing

CSF from flowing into the subarachnoid

space (either due to external compression or

intraventricular mass lesions).

Foramen of Monro obstruction may lead

to dilation of one or, if large enough

(e.g., in Colloid cyst), both lateral

ventricles.

The aqueduct of Sylvius, normally

narrow to begin with, may be obstructed

by a number of genetically or acquired

lesions (e.g., atresia, ependymitis,

hemorrhage, tumor) and lead to dilation

of both lateral ventricles as well as the

third ventricle.

Fourth ventricle obstruction will lead to

dilatation of the aqueduct as well as the

lateral and third ventricles (e.g., Chiari

malformation).

The foramina of Luschka and foramen

of Magendie may be obstructed due to

congenital failure of opening (e.g.,

Dandy-Walker malformation).

Congenital

Arnold-Chiari malformation and Dandy-

Walker malformation

The cranial bones fuse by the end of

the third year of life. For head

enlargement to occur, hydrocephalus

must occur before then. The causes

are usually genetic but can also be

acquired and usually occur within

the first few months of life, which

include 1) intraventricular matrix

hemorrhages in premature infants, 2)

infections, 3) type II Arnold-Chiari

malformation, 4) aqueduct atresia

and stenosis, and 5) Dandy-Walker

malformation.

In newborns and toddlers with

hydrocephalus, the head

circumference is enlarged rapidly

and soon surpasses the 97th

percentile. Since the skull bones

have not yet firmly joined together,

bulging, firm anterior and posterior

fontanelles may be present even

when the patient is in an upright

position.

The infant exhibits fretfulness, poor

feeding, and frequent vomiting. As

the hydrocephalus progresses, torpor

sets in, and the infant shows lack of

interest in his surroundings. Later on,

the upper eyelids become retracted

and the eyes are turned downwards

(due to hydrocephalic pressure on

the mesencephalic tegmentum and

paralysis of upward gaze).

Movements become weak and the

arms may become tremulous.

Papilledema is absent but there may

be reduction of vision. The head

becomes so enlarged that the child

may eventually be bedridden.

About 80-90% of fetuses or newborn infants

with spina bifida—often associated with

meningocele or myelomeningocele—

develops hydrocephalus.

Acquired

This condition is acquired as a consequence

of CNS infections, meningitis, brain tumors,

head trauma, intracranial hemorrhage

(subarachnoid or intraparenchymal) and is

usually extremely painful.

Effects

Because hydrocephalus can injure the brain,

thought and behavior may be adversely

affected. Learning disabilities including

short-term memory loss are common among

18 Pediatric conditions Hand notes

those with hydrocephalus, who tend to score

better on verbal IQ than on performance IQ,

which is thought to reflect the distribution of

nerve damage to the brain. However the

severity of hydrocephalus can differ

considerably between individuals and some

are of average or above-average intelligence.

Someone with hydrocephalus may have

motion and visual problems, problems with

coordination, or may be clumsy. They may

reach puberty earlier than the average child

(see precocious puberty). About one in four

develops epilepsy.

Treatment

Hydrocephalus treatment is surgical,

generally creating various types of

cerebral shunts. It involves the

placement of a ventricular catheter (a

tube made of silastic), into the

cerebral ventricles to bypass the flow

obstruction/malfunctioning

arachnoidal granulations and drain

the excess fluid into other body

cavities, from where it can be

resorbed.

Most shunts drain the fluid into the

peritoneal cavity (ventriculo-

peritoneal shunt), but alternative

sites include the right atrium

(ventriculo-atrial shunt), pleural

cavity (ventriculo-pleural shunt), and

gallbladder. A shunt system can also

be placed in the lumbar space of the

spine and have the CSF redirected to

the peritoneal cavity (Lumbar-

peritoneal shunt).

An alternative treatment for

obstructive hydrocephalus in

selected patients is the endoscopic

third ventriculostomy (ETV),

whereby a surgically created opening

in the floor of the third ventricle

allows the CSF to flow directly to

the basal cisterns, thereby

shortcutting any obstruction, as in

aqueductal stenosis. This may or

may not be appropriate based on

individual anatomy.

Shunt complications

Examples of possible complications

include shunt malfunction, shunt

failure, and shunt infection, along

with infection of the shunt tract

following surgery (the most common

reason for shunt failure is infection

of the shunt tract). Although a shunt

generally works well, it may stop

working if it disconnects, becomes

blocked (clogged), infected, or it is

outgrown. If this happens the

cerebrospinal fluid will begin to

accumulate again and a number of

physical symptoms will develop

(headaches, nausea, vomiting,

photophobia/light sensitivity), some

extremely serious, like seizures. The

shunt failure rate is also relatively

high (of the 40,000 surgeries

performed annually to treat

hydrocephalus, only 30% are a

patient's first surgery) and it is not

uncommon for patients to have

multiple shunt revisions within their

lifetime.

The diagnosis of cerebrospinal fluid

buildup is complex and requires

specialist expertise.

Another complication can occur

when CSF drains more rapidly than

it is produced by the choroid plexus,

causing symptoms -listlessness,

severe headaches, irritability, light

sensitivity, auditory hyperesthesia

(sound sensitivity), nausea, vomiting,

dizziness, vertigo, migraines,

seizures, a change in personality,

weakness in the arms or legs,

strabismus, and double vision - to

19 Pediatric conditions Hand notes

appear when the patient is vertical. If

the patient lies down, the symptoms

usually vanish in a short amount of

time. A CT scan may or may not

show any change in ventricle size,

particularly if the patient has a

history of slit-like ventricles.

Difficulty in diagnosing

overdrainage can make treatment of

this complication particularly

frustrating for patients and their

families.

Resistance to traditional analgesic

pharmacological therapy may also be

a sign of shunt overdrainage or

failure. Diagnosis of the particular

complication usually depends on

when the symptoms appear - that is,

whether symptoms occur when the

patient is upright or in a prone

position, with the head at roughly the

same level as the feet.

Orthopedic anomalies:

1. Osteogenesis imperfecta

2. Arthrogryposis multiplex congenital

3. Talipes equinovarus

4. Torticollis: is a condition in which there

is a lateral inclination and a rotation of the

head away from the midline of the body

with limitation of the range of motion of the

neck.

5. Congenital dislocation of the hip: in this

condition the femur head is completely

dislocated from the acetabulum. The infant

shows limited ability to abduct the hip,

asymmetry of the gluteal skin folds and

inguinal creases, and shortening of the

affected leg.

6. Clubfoot: flexion at the ankle with

inversion of the heel and fore foot.

20 Pediatric conditions Hand notes

Osteogenesis imperfecta

Osteogenesis imperfecta (oi and sometimes

known as brittle bone disease, or "lobstein

syndrome" is a genetic bone disorder.

People with oi are born with defective

connective tissue, or without the ability to

make it, usually because of a deficiency of

type-i collagen. This deficiency arises from

an amino acid substitution of glycine to

bulkier amino acids in the collagen triple

helix structure. The larger amino acid side-

chains create steric hindrance that creates a

bulge in the collagen complex, which in turn

influences both the molecular

nanomechanics as well as the interaction

between molecules, which are both

compromised. As a result, the body may

respond by hydrolyzing the improper

collagen structure. If the body does not

destroy the improper collagen, the

relationship between the collagen fibrils and

hydroxyapatite crystals to form bone is

altered, causing brittleness. Another

suggested disease mechanism is that the

stress state within collagen fibrils is altered

at the locations of mutations, where locally

larger shear forces lead to rapid failure of

fibrils even at moderate loads as the

homogeneous stress state found in healthy

collagen fibrils is lost. These recent works

suggest that oi must be understood as a

multi-scale phenomenon, which involves

mechanisms at the genetic, nano-, micro-

and macro-level of tissues.

Types

There are eight different types of oi, type i

being the most common, though the

symptoms vary from person to person

Type Description

I Mild

Ii Severe and usually lethal in the

perinatal period

Iii Considered progressive and deforming

Iv Deforming, but with normal sclera‘s

V

Shares the same clinical features of iv,

but has unique histologic findings

("mesh-like")

Vi

Shares the same clinical features of iv,

but has unique histologic findings

("fish scale")

Vii Autosomal recessive, associated with

cartilage associated protein

Viii Severe to lethal, autosomal recessive,

associated with the protein leprecan

Type i

Blue sclera in osteogenesis imperfecta.

Collagen is of normal quality but is

produced in insufficient quantities:

Bones fracture easily

21 Pediatric conditions Hand notes

Slight spinal curvature

Loose joints

Poor muscle tone

Discoloration of the sclera (whites of

the eyes), usually giving them a

blue-gray color. The blue-gray color

of the sclera is due to the underlying

choroidal veins which show through.

This is due to the sclera being

thinner than normal because of the

defective type i collagen not forming

correctly.

Early loss of hearing in some

children

Slight protrusion of the eyes

Ia and ib are defined to be distinguished by

the absence/presence of dentinogenesis

imperfecta (characterized by opalescent

teeth; absent in ia, present in ib). Life

expectancy is slightly reduced compared to

the general population due to the possibility

of fatal bone fractures and complications

related to oi type i such as basilar

invagination.

Type ii

Collagen is not of a sufficient quality or

quantity

Most cases die within the first year

of life due to respiratory failure or

intracerebral hemorrhage

Severe respiratory problems due to

underdeveloped lungs

Severe bone deformity and small

stature

Type ii can be further subclassified into

groups a, b, c, which are distinguished by

radiographic evaluation of the long bones

and ribs. Type iia demonstrates broad and

short long bones with broad and beaded ribs.

Type iib demonstrates broad and short long

bones with thin ribs that have little or no

beading. Type iic demonstrates thin and

longer long bones with thin and beaded ribs.

Type iii

Collagen improperly formed. Enough

collagen is made but it is defective

Bones fracture easily, sometimes

even before birth

Bone deformity, often severe

Respiratory problems possible

Short stature, spinal curvature and

sometimes barrel-shaped rib cage

Triangular face

Loose joints

Poor muscle tone in arms and legs

Discolouration of the sclera (the

'whites' of the eyes), often turning

blue during severe -break.

Early loss of hearing possible

Type iii is distinguished among the other

classifications as being the "progressive

deforming" type, wherein a neonate presents

with mild symptoms at birth and develops

the aforementioned symptoms throughout

life. Lifespan may be normal, albeit with

severe physical handicapping.

Type iv

Collagen quantity is sufficient but is not of a

high enough quality

Bones fracture easily, especially

before puberty

Short stature, spinal curvature and

barrel-shaped rib cage

Bone deformity is mild to moderate

Early loss of hearing

Similar to type i, type iv can be further

subclassified into types iva and ivb

characterized by absence (iva) or presence

(ivb) of dentinogenesis imperfecta.

22 Pediatric conditions Hand notes

Type v

Oi type

v in an adult

Oi type v in a child

Same clinical features as type iv.

Distinguished histologically by "mesh-like"

bone appearance. Further characterized by

the "v triad" consisting of a) radio-opaque

band adjacent to growth plates, b)

hypertrophic calluses at fracture sites, and c)

calcification of the radio-ulnar interosseous

membrane.

Oi type v leads to calcification of the

membrane between the two forearm bones,

making it difficult to turn the wrist. Another

symptom is abnormally large amounts of

repair tissue (hyperplasic callus) at the site

of fractures. At the present time, the cause

for type v is unknown, though doctors have

determined that it is inherited.

Type vi

Same clinical features as type iv.

Distinguished histologically by "fish-scale"

bone appearance.

Type vii

In 2005 a recessive form called "type

vii" was discovered (phenotype

severe to lethal).

Mutations in the gene crtap causes

this type.

Type viii

Oi caused by mutation in the gene lepre1 is

classified as type viii.

Treatment

At present there is no cure for oi. Treatment

is aimed at increasing overall bone strength

to prevent fracture and maintain mobility.

There have been many clinical trials

performed with fosamax (alendronate), a

drug used to treat those experiencing

brittleness of bones due to osteoporosis.

Higher levels of effectiveness apparently are

to be seen in the pill form versus the iv

form, but results seem inconclusive. The u.s.

Food and drug administration (fda) will not

approve fosamax as a treatment for oi

because long term effects of the drug have

not been fully researched yet, although it is

often used in preteens, instead of

pamidronate.

Bone infections are treated as and when they

occur with the appropriate antibiotics and

antiseptics.

23 Pediatric conditions Hand notes

Physiotherapy

Physiotherapy used to strengthen muscles

and improve motility in a gentle manner,

while minimizing the risk of fracture. This

often involves hydrotherapy and the use of

support cushions to improve posture.

Individuals are encouraged to change

positions regularly throughout the day in

order to balance the muscles which are

being used and the bones which are under

pressure.

Children often develop a fear of trying new

ways of moving due to movement being

associated with pain. This can make

physiotherapy difficult to administer to

young children.

Physical aids

With adaptive equipment such as crutches,

wheelchairs, splints, grabbing arms, and/or

modifications to the home many individuals

with oi can obtain a significant degree of

autonomy.

Bisphosphonates

Bisphosphonates (bps), particularly those

containing nitrogen, are being increasingly

administered to increase bone mass and

reduce the incidence of fracture. Bps can be

dosed orally (e.g. Alendronate) or by

intravenous injection/infusion (e.g.

Pamidronate, zoledronic acid).

Bp therapy is being used increasingly for the

treatment of oi. It has proven efficiency in

reducing fracture rates in children, however

only a trend towards decreased fracture was

seen in a small randomized study in adults.

While decreasing fracture rates, there is

some concern that prolonged bp treatment

may delay the healing of oi fractures,

although this has not been conclusively

demonstrated.

Pamidronate is used in usa, uk and canada.

Some hospitals, such as most shriners,

provide it to children. Some children are

under a study of pamidronate. Marketed

under the brand name aredia, pamidronate

is usually administered as an intravenous

infusion, lasting about three hours. The

therapy is repeated every three to six

months, and lasts for the life of the patient.

Common side effects include bone pain, low

calcium levels, nausea, and dizziness.

According to recent results, extended

periods of pamidrinate, (i.e.;6 years) can

actually weaken bones, so patients are

recommended to get bone densities every 6

months-1 year, to monitor bone strength.

Surgery

Metal rods can be surgically inserted in the

long bones to improve strength, a procedure

developed by harold a. Sofield, md, at

shriners hospitals for children in chicago.

During the late 1940s, sofield, chief of staff

at shriners hospitals in chicago, worked

there with large numbers of children with oi

and experimented with various methods to

strengthen the bones in these children. In

1959, with edward a. Miller, md, sofield

wrote a seminal article describing a solution

that seemed radical at the time: the

placement of stainless steel rods into the

intramedullary canals of the long bones to

stabilize and strengthen them. His treatment

proved extremely useful in the rehabilitation

and prevention of fractures; it was adopted

throughout the world and still forms the

basis for orthopedic treatment of oi.

Spinal fusion can be performed to correct

scoliosis, although the inherent bone

fragility makes this operation more complex

in oi patients. Surgery for basilar

24 Pediatric conditions Hand notes

impressions can be carried out if pressure

being exerted on the spinal cord and brain

stem is causing neurological problems.

Arthrogryposis multiplex

congenital

Definition: Arthrogryposis multiplex

congenital is disorders characterized by

multiple joint contractures through the body

present at birth.

Types

Arthrogryposis includes more than two-

hundred variations of contractures that are

present. Generally the conditions of

arthrogryposis can be divided into three

groups.

Disorders involving mainly the

person's limbs

Disorders including limb

involvement and the person's central

nervous system.

Example :

1) disorders with mainly limb involvement:

Amyoplasia.

- sporadic condition.

- distinct appearance of limbs and joints

- normal iq.

Other distal arthrogryposes. There

are 7 subtypes, classified as type i,

type ii and types iia to iie.

2) disorders with involvement of limbs and

other body parts:

- multiple pterygium syndrome (pterygium

25 Pediatric conditions Hand notes

meaning 'wing' and referring to triangular

membranes affecting the neck, knees,

elbows, ankles, etc.):

- autosomal recessive: multiple joint

contractures with marked pterygia

(dysmorphic facies and cervical vertebral

anomalies).

- autosomal dominant: multiple pterygia

(with or without mental retardation).

Other syndromes:

Freeman-sheldon syndrome.

Condition that primarily affects the face,

hands, and feet. People with this disorder

have a distinctive facial appearance.

Osteochondrodysplasias.

A group of hereditary disorders in which

bone or cartilage grows abnormally,and

skeleton develops abnormally.

Chromosomal disorders.

- cerebro-oculo-facial skeletal syndrome is a

genetic, degenerative disorder that involves

the brain and the spinal cord.

Causes

Children with arthrogryposis experience :

Neurologic deficits

- loss of neurons and multiple congenital

joint contractures of a person's body at the

time of their birth.

Connective tissue and skeletal

defects

- Fails to nourish the child's nerves that lead

to bones or muscles that make up their joints

to move with full range.

- Decreased space in the womb for the fetus

to move around, maternal fever, viral

infections, and environmental factors may

lead to arthrogryposis .

Maternal neuromuscular diseases

- myotonic dystrophy

-inherited disorder, muscles contract

but have decreasing power to relax.

- myasthenia gravis.

-chronic autoimmune neuromuscular

disease characterized by varying

degrees of weakness of the skeletal

(voluntary) muscles of the body.

Clinical presentation

1) Early sign of arthrogryposis :

Specific positioning present at birth

- internal rotation at the shoulders,

extension at the elbows, and flexion at the

wrists.

- severe equinovarus deformity of

the feet is frequently present

2) Child with arthrogryposis have:

Flexed joint

Limited joint motion

Muscle paralysis

Reduced facial gesticulation

Bone and joint deformity

26 Pediatric conditions Hand notes

Joint enlargement

Thickened skin over joints

Cylindrical elbows

Premature synostosis

Palate defect

Spinal cord motor neuron

degeneration

Muscle weakness

Multiple joint contractures

Therefore, arthrogryposis child have

difficulty in moving from one place to

another.

Investigation

In order to distinguish between the different

types of arthrogryposis, doctors can use:

1) X-rays

- detecting abnormalities in at child's

pelvis, limbs, and spine

2) Magnetic resonance imaging (MRI) scan

- to determine the extent of central

nervous system involvement in AMC

3 ) Computed tomography (CT) scan

- detecting the neurogenic and

myopathic forms

4) Ultrasound

- can detect the changes in soft tissue

structure and bone fusions at the joints

before birth.

5) genetic testing

- methods and procedures to determine the

presence of a genetic disorder.

Medical management

1 ) surgery

Can relieve the abnormal tension

shortened connective tissue and

muscle structures place on the joints.

Restructure bone tissue

2) Physical therapy

Helps strengthen the tissues and

extend range of motion.

Reference:

Http://www.disabled-

world.com/health/orthopedics

/arthrogryposis.php

Http://www.kyaskrusade.org/

wp-

content/uploads/2008/02/kyas

%20krusade%20arthrogrypos

is%20education%20page.pdf

27 Pediatric conditions Hand notes

Talipes equinovarus

Definition: Talipes equinovarus or

congenital clubfoot is a common

abnormality of foot developmental

deformity of the foot in which one or both

feet are excessively plantar flexed and

discovered at the time of birth.

Types

There are various types of talipes

equinovarus but three common types of

talipes equinovarus are talipes equinovalgus,

talipes calcaneovarus and talipes

calcaneovalgus.

Talipes equinovalgus is a deformity

that is a combination of talipes

equinus and talipes valgusmarked

by a plantar-flexed, everted, and

abducted foot

Talipes calcaneovarus is a talipes

calcaneus and talipes varus

combined; the foot is dorsiflexed,

inverted, and adducted

Talipes calcaneovalgus is a talipes

calcaneus and talipes valgus

combined; the foot is dorsiflexed,

everted, and abducted

Causes

There are three main causes that may

lead to talipes equinovarus :

Congenital

- genetic that are inherited from parents.

Position of baby

- position of baby in the womb; too little

fluid surrounding the baby, a condition

known as oligohydramnios.

Neuromuscular disorder.

- Abnormalities of the nervous system or

muscles

- Part of a syndrome of birth defects.

Clinical presentation

The foot is turned inward from the

normal position

The heel is higher than the ball of

the foot.

They also have stiff foot where the

joints can‘t be moved normally.

Their calf muscles also smaller than

normal.

Complication in mobility

Investigation

Talipes equinovarus is usually diagnosed

after a baby is born. However, as the

technology of :

1) Ultrasound scanning

- during pregnancy improves,

increasingly, talipes equinovarus is

being detected during scanning before

a baby is born.

2) Examined and checked initial

appearance of the child feet.

- the doctor examinate the child`s feet

by looking at initial mobility of the feet

and manipulation.

- initial mobility of baby`s feet by

varying degrees of deformity

- doctor will investigate the joints that

were rigid and more mobile.

28 Pediatric conditions Hand notes

3) x-rays

- detecting abnormalities in at child`s

feet

Medical management

1) Gentle manipulation means

- gently holding and stretching the

foot into a more natural position.

- added use of strapping, splints,

plaster casts or special boots, all of

which help maintain the position of

the foot.

2) Surgery also can help cure talipes

equinovarus

- if foot position isn‘t achieved by

the time your baby is about 3 months old.

- often carried out on the tendons and

muscles of the foot to correct their

length and loose them.

References :

Http://www.patient.co.uk/hea

lth/talipes-equinovarus-

%28club-foot%29.htm

Http://www.impcna.com/intr

anet/nelson%20pediatric/new

born/clubfoot%5b1%5d.pdf

Http://www.babyworld.co.uk/

information/baby/health/talip

es.asp

29 Pediatric conditions Hand notes

Congenital Hip Dislocation

Definition

The pelvis and femur are the two main

bones that form the hip joint. Articulation of

the head of the femur and the acetabulum of

the pelvis make the hip joint an enarthrodial

joint.

Some children are born with a hip problem

called congenital hip dislocation (dysplasia).

The condition is usually diagnosed as soon

as a baby is born. Mostly, it affects the left

hip in first-born children, girls, and babies

born in the breech position.

In hip dislocation, the ball at the top of the

thighbone (femoral head) does not sit

securely in the socket (acetabulum) of the

hip joint. Surrounding ligaments may also

be loose and stretched. The ball may be

loose in the socket or completely outside of

it.

Causes

Female newborn

Breech birth

Family history of congenital hip

dislocation

Symptoms

A ―clicking‖ sound when the

newborn‘s legs are pushed apart

Affected leg will look shorter than

the other one

Skin folds in the thighs will appear

uneven

Less flexibility on the leg

Limping when walking

Diagnosis

A very careful physical examination of a

newborn usually distinguishes hip

dislocation. In older infants and children, hip

x-rays can confirm the diagnosis.

Ortolani maneuver: the examiner puts the

newborn baby in a position of contralateral

hip is held still while the thigh of the hip

being tested is abducted and gently pulled

anteriorly. The acetabulum is not fully

developed if the examiner hears the ‗clunk‘

sound.

Barlow maneuver: it is done by adducting

the hip while pushing the thigh posteriorly.

If the hip goes out of the socket it means it is

dislocated and the newborn has a congenital

hip dislocation. They examine the baby by

laying the baby on its back and separating

their two legs apart if a clicking sound can

30 Pediatric conditions Hand notes

be heard then that means that the baby may

have this condition.

Tonic labyrinthine reflex (tlr): reflex

presents in a newborn babies. It is suggested

that in order to do this reflex exercise the

head is tilting back which causes the baby‘s

back to become stiffened, the legs are

straightened and pushed together with the

toes to point, and the arms bent at the

elbows and wrists. Also the hands will be

put into a fist are curled.

Treatment

Treatment of dislocation depends on the age

of the child. In a newborn ,a device called a

pavlik harness will ensure the hip bone in

the socket and stimulate normal hip

development. If that method doesn‘t work,

the hip bone can often be pushed back into

place in children aged 6 months to 2 years.

Called closed reduction under anesthesia, if

fails, open surgery to reposition the hip may

be necessary.

31 Pediatric conditions Hand notes

Torticollis

Introduction

Torticollis is caused by the shortening of

muscles in the neck, particularly the

sternocleidomastoid (scm) muscle. This can

occur from placement in utero, the birth

process or being constantly in the same

position in car seats, swings, etc. And not

having the opportunity to turn their neck to

both sides. Often, torticollis causes

plagiocephaly since the child is favoring one

side of the neck and pressure is always on

the same side of the head. They are many

type of symptom that can be cause for this

disease. The causes is base on the type of

this disease, for example head pain, neck

injury, and osteoarthritis

Definition

Torticollis, or wryneck, is a stiff neck

associated with muscle spasm, classically

causing lateral flexion contracture of the

cervical spine musculature (a condition in

which the head is tilted to one side). The

muscles affected are principally those

supplied by the spinal accessory nerve.

Types

1. Congenital muscle torticollis

2. Acquired torticollis

Congenital muscular torticollis

The etiology of congenital muscular

torticollis is unclear. Birth trauma or

intrauterine malposition is also

considered to cause damage to the

sternocleidomastoid muscle in the

neck. This results in a shortening or

excessive contraction of the

sternocleidomastoid muscle, often

with limited range of motion in both

rotation and lateral bending. The

head is typically tilted in lateral

bending toward the affected muscle

and rotated toward the opposite side.

The condition may be caused by

scars, disease of cervical vertebrae,

adenitis, tonsillitis, rheumatism,

enlarged cervical glands,

retropharyngeal abscess, or

cerebellar tumors. It may be

spasmodic (clonic) or permanent

(tonic). The latter type may be due to

pott's disease (tuberculosis of the

spine).

The reported incidence of congenital

torticollis is 0.3-2.0 %. Sometimes a

mass (a sternocleidomastoid tumor)

in the affected muscle may be noted,

this appears at the age of two to four

weeks, it disappears gradually, but

sometimes the muscle becomes

fibrotic. It is likely to disappear

within the first five to eight months

of life.

The condition is treated initially with

physical therapy, with stretching to

correct the tightness, strengthening

exercises to achieve muscular

balance, handling to stimulate

symmetry. A tot collar is sometimes

used. About 5–10% require "surgical

release" of the muscle if stretching

fails.

Infants with torticollis have a higher

risk for plagiocephaly. Altering the

head position and using a pillow

when supine helps as does giving a

lot of tummy time when awake.

Other less common causes such as

tumors, infections, ophthalmologic

problems and other abnormalities

should be ruled out. For example,

ocular torticollis due to cranial nerve

32 Pediatric conditions Hand notes

iv palsy should not be treated with

physical therapy. In this situation,

the torticollis is a neurological

adaptation designed to maintain

binocularity. Treatment should be

targeted at the extraocular muscle

imbalance.

In general, if torticollis is not

corrected facial asymmetry can

develop. Head position should be

corrected before adulthood (to about

the age of 18 there can be

improvement). Younger children

show the best results.

Congenital torticollis develops in the

infant but can be diagnosed at older

ages, even in adults who were

missed as infants/children.

The word torticollis means wry neck:

acquired torticollis is not the same as

congenital torticollis. All ages can

suffer from acquired torticollis.

Common treatment might involve a multi-

phase process:

1. Low-impact exercise to increase

strong form neck stability

2. Manipulation of the neck by a

chiropractor, physical therapist, or

d.o.†

3. Extended heat application.

4. Repetitive shiatsu massage.

An osteopathic physician (d.o.) May choose

to use cranial techniques to properly position

the occipital condyles - thereby relieving

compression of cranial nerve xi in children

with torticollis. This is an example of

osteopathic manipulative treatment.

Acquired torticollis

Acquired torticollis occurs because of

another problem and usually presents in

previously normal children and adults.

A self-limiting spontaneously occurring

form of torticollis with one or more

painful neck muscles is by far the most

common ('stiff neck') and will pass

spontaneously in 1–4 weeks. Usually the

sternocleidomastoid muscle or the

trapezius muscle is involved. Sometimes

draughts, colds or unusual postures are

implicated; however in many cases no

clear cause is found. These episodes are

rarely seen by doctors other than a

family physician.

Trauma to the neck can cause

atlantoaxial rotatory subluxation, in

which the two vertebrae closest to the

skull slide with respect to each other,

tearing stabilizing ligaments; this

condition is treated with traction to

reduce the subluxation, followed by

bracing or casting until the ligamentous

injury heals.

Tumors of the skull base (posterior fossa

tumors) can compress the nerve supply

to the neck and cause torticollis, and

these problems must be treated

surgically.

Infections in the posterior pharynx can

irritate the nerves supplying the neck

muscles and cause torticollis, and these

infections may be treated with

antibiotics if they are not too severe, but

could require surgical debridement in

intractable cases.

Ear infections and surgical removal of

the adenoids can cause an entity known

as grisel's syndrome, a subluxation of

the upper cervical joints, mostly the

atlantoaxial joint, due to inflammatory

laxity of the ligaments caused by an

infection. This bridge must either be

broken through manipulation of the

neck, or surgically resected.

The use of certain drugs, such as

antipsychotics, can cause torticollis.

Antiemetics - neuroleptic class -

phenothiazines

33 Pediatric conditions Hand notes

There are many other rare causes of

torticollis.

Spasmodic torticollis

Torticollis with recurrent but transient

contraction of the muscles of the neck and

esp. Of the sternocleidomastoid.

"intermittent torticollis . "cervical dystonia"

Treatment: botulinum toxin has been used to

inhibit the spastic contractions of the

affected muscles

Clinical presentation

Neck pain

Neck stiffness

Neck

tenderness(decreased

range of motion of the

neck)

Severs spasm of the

neck muscle(head is

tilted to one side)

Mild headache

Investigation

Evaluation of a child with torticollis

begins with history taking to

determine circumstances surrounding

birth and any possibility of trauma or

associated symptoms.

Physical examination reveals

decreased rotation and bending to the

side opposite from the affected

muscle. Some say that congenital

cases more often involve the right

side, but there is not complete

agreement about this in published

studies.

Evaluation should include a thorough

neurologic examination, and the

possibility of associated conditions

such as developmental dysplasia of

the hip and clubfoot should be

examined.

Radiographs of the cervical spine

should be obtained to rule out

obvious bony abnormality, and mri

should be considered if there is

concern about structural problems or

other conditions.

Evaluation by an ophthalmologist

should be considered in children to

ensure that the torticollis is not

caused by vision problems (iv cranial

nerve palsy, nystagmus-associated

"null position," etc.). Most cases in

infants respond well to physical

therapy. Other causes should be

treated as noted above.

Medical management

Treatments for congenital torticollis

involve stretching at shortened neck

muscle. The stretching that been

done to this case must be in passive

stretching. This type of treatment is

used to infants and small children.

This treatment oftenly successful

especially when it starts within 3

month of birth.

Surgery treatment may be needed to

correct the neck muscle, for the

preschool year (4-6 years old), if

other treatment like passive

stretching and drugs failed.

Acquired torticollis is treated by

identifying the causes of disorder,

application of heat, traction to

cervical spine and massage may help

to release neck and head pain.

Stretching exercises may help with

muscle spasm.

34 Pediatric conditions Hand notes

Drugs or potion that often used to

treat this condition include an

anticholierngic drug called baclofen.

Injection of botilium toxin can

temporarily relive the torticollis, but

repeat injection usually needed for

every 3 months. Surgery are rarely

needed for this disease

Conclusion

As a conclusion, we know

that tortticollis is a disease that can get from

birth or when we get head trauma or a pain

that can damage sternoclaidomastoid

muscle. Eventough there are many

treatments that we can get for this disease.

We still need to take a precaution and care

for our neck , because an injured around the

neck is really pain to be cure specially to

do stretching treatment and it must done for

many time until our sternocleidomastoid

muscle can relax like usual .

References:

1. Cheng jcy, wong mwn, tang sp, chen

tmk, mphil, shum slf, wong emc.

Clinical determinants of the outcome

of manual stretching in the treatment

of congenital muscular torticollis in

infants. Bone joint surg.

2001;83:679-687.

2. Tang sf, hsu kh, wong am hsu cc,

chang ch. Logitudinal followup

study of ultrasonography in

congenital muscular torticollis. Clin

orthop. 2002;403:179-185.

3. Hsu tc, wang cl, wong mk, hsu kh,

tang ft, chen ht. Correlation of

clinical and ultrasonographic

features in congenital muscular

torticollis. Arch phys med rehabil.

1999;80:637-641.

4. Yu c-c, wong f-w, lo l-j, et al.

Craniofacial deformity in patients

with uncorrected congenital

muscular torticollis: an assessment

from three-dimensional computed

tomography imaging. Plast reconstr

surg. 2004;113:24–33.

35 Pediatric conditions Hand notes

SEQUELAE OF

PREMATURITY

Hypotonia

Introduction

Hypotonia in general is a disorder in

itself but it is also looked at as condition

which is sign of various disorders and

indicates onset of problem related to muscle

tone or motor nerve that controls movements

and functionally of muscle.

Diagnosis of hypotonia its early

stage may help in treating the patient.

To detect hypotonia from early stage

is simple but to diagnosing the underlying

cause is difficult and unsuccessful.

Hypotonia is also one of the sequelae of

prematurity.

Definition

Hypotonia is the state of low muscle

tone (the amount of tension or resistance to

movement in a muscle), often involving

reduced muscle strength

Muscle tone indicates the ability of a muscle

to respond to a stretch increased or

decreased.

1. Explanation

- The low muscle tone can be

caused by a variety of conditions

such as underlying central

nervous system disorder, genetic

disorder, or muscle disorder.

- A lack of muscle tone and lack of

muscle strength are not the same

thing because a muscle can be

strong as a bodybuilders and still

have low tone.

- A child with low muscle tone has

muscles that are slow to start a

muscle contraction.

- Muscles contract very slowly in

response to a stimulus and cannot

maintain a contraction for as long

as a normal muscle. Because

low-toned muscles do not fully

contract before they again relax,

they remain loose and very

stretchy, never achieving their

full potential of sustaining a

muscle contraction over time.

2. Others name for hypotonia

- Hypotonia also known as ‘floppy

infant syndrome’ that is used to

described as feeling and

appearing as though they are ‗rag

dolls‘ a ‗ sack of jello‘ or a ‗

pillow full of pudding‘ easily

slipping through one‘s hand.

- Benign congenital hypotonia

- Congenital hypotonia

- Congenital muscle hypotonia

- Congenital muscle weakness

- Amyotonia congenital

- Infantile hypotonia

36 Pediatric conditions Hand notes

Etiology (causes)

Some causes of hypotonia are often

uknown origin. Scientist believes that they

may be caused by:

Trauma

Environmental factors

Genetic

Muscles

Central nervous system

‗The national institutes of health‘ list that

some condition known to cause hypotonia

includes:

Down syndrome(trisomy 21)

- A chromosome abnormality,

usually due to an extra copy of

the twenty-first chromosome.

Congenital cerebral ataxia

- A movement disorder which with

its sudden onset, often following

an infectious viral disease, causes

hypotonia.

Familial dysautonomia (riley-day

syndrome)

- An inherited disorder that affects

the function of nerves throughout

the body.

Prader-willi sydrome

- A congenital disease

characterized by obesity, severe

hypotonia, and decreased mental

capacity.

Kernicterus (rh incompatibility)

- A condition that develops when

there is a difference in rh blood

type between that of the mother

(rh negative) and that of the fetus

(rh positive).

Infant botulism

- A type of botulism, in which

clostridium botulinum bacteria

grow within an infant's digestive

tract, producing a toxin which is

potentially life-threatening.

Congenital hypothroidism

37 Pediatric conditions Hand notes

- A disorder that results from

decreased thyroid hormone

production.

Muscular dystrophy

- A group of disorders

characterized by progressive

muscle weakness and loss of

muscle tissue.

Myasthenia gravis

- A neuromuscular disorder

characterized by variable

weakness of voluntary muscles,

which often improves with rest

and worsens with activity. The

condition is caused by an

abnormal immune response.

Trisomy 13

- A syndrome associated with the

presence of a third number 13

chromosome.

Clinical presentation (sign & symptoms)

1. Children with hypotonia may

exhibit poor head control and

possibly fail to meet other

development milestone such as

sitting or crawling.

2. Decreased muscle tone which

muscles feel soft and doughy

(floppy muscle tone) and lack of

gross motor.

3. A child may difficulties with

sucking, swallowing and oral motor

functions (dysphagia).

4. Failure to acquire motor skill

developmental milestones (such as

holding head up without support

from parent, rolling over, sitting up

without support, walking)

5. Depending on the nature, severity

and location of the cerebral damage,

hypotonia can affect the entire body

or be limited to parts of the body.

6. Children with this disorder may not

exhibit developmental disabilities or

mental retardation.

7. A child with brain injury resulting

in hypotonia may or may not

experience a seizure disorder or

movement disorder.

Investigation

1. Molecular genetic studies for

characteristic condition

- Prader-willi syndrome is a

complex genetic condition that

affects many parts of the body

and in infancy, this condition

characterized by weak muscles

tone(hypotonia)

2. Creatine phosphokinase(cpk)

- To diagnose dermatomyositis or

viral myositis.

3. X ray of the knee to look for patella

calcification or stippling in

peroxysomal disorder.

4. Appropriate biochemistry for

metabolic reaction.

5. Electromyography(emg) and nerve

conduction studies. Single fibre or

repetitive stimulation for myasthenia.

- Neurogenic pattern with reduced

maximal effort, increased

duration and amplitude of motor

unit potentials and increased

38 Pediatric conditions Hand notes

numbers of polyphasic potential.

Dna testing.

6. Neuroimaging of brain

- To exclude structural brain

abnormality, either isolated or in

association with muscle disease.

7. Muscle biopsy

- May be justified in the neonate

if diagnosis cannot be secured by

alternative method.

8. Serial ultrasound and doppler

examination

- To detect signs of fetal anemia

such as increased blood flow

velocities and monitor hydrops

fetalis.

9. Quantitative analysis of maternal

anti-rhd antibodies

- An increasing level is a sign of

fetal rh disease

10. Intrauterine blood transfusion

- Intraperitoneal transfusion(blood

transfused into fetal abdomen)

- Intravascular transfusion(blood

transfused into fetal umbilical

vein)

11. Early delivery

- Usually after about 36 weeks

gestation.

Medical management

Medical management is very

important to the hypotonia infant. Most of

the cause of hypotonia currently have known

cure, but we can learn how to cope with and

overcome hypotonia symptoms.

Drugs

Cardiomyopathy frequently

coexists with neuromuscular

conditions causing hypotonia

Duchenne muscular dystrophy

Oral prednisone is used to increase

and sustain muscle strength

Infantile botulism

Supportive therapy for respiratory

insuffiency or bulbar dysfunction

–botulinum immune globulin is

beneficial if given within the first 3

days of illness

Synthoid for hypothyroidism

Folic acid supplementation

Iodine supplementation eliminates

mental retardation and bone

deformities.

Isolation measures to try and

prevent opportunistic infection such

as tuberculosis or pneumonia.

Suggestions

Don‘t take any drugs or poison

during pregnancy and all stage of

pregnancy, it may cause the baby

expose to any disorder.

Good prenatal care

Rehabilitation

Children with hypotonia can benefits

greatly from consistent, physical,

occupational and speech therapy

39 Pediatric conditions Hand notes

- To strengthen diminished or

hypotonic muscle group and in

some cases prevent muscular

atrophy and contractures of the

affected joint.

Diagnosis

Diagnosing a patient includes

obtaining family medical history and

a physical examination.

May include such additional tests as:

- Computerized tomography (ct)

scans

- Magnetic resonance imaging

(mri) scans

- Electroencephalogram (eeg)

- Blood tests

- Genetic testing (chromosome

karyotyping)

- Spinal taps

- Electrotromyography muscle

tests.

References

Jane case smith (5th

edition)

occupational therapy for children

Pedretti (5th

edition) occupational

therapy for physical dysfuntion

Stephan stobel, stephen d. Marks,

peter k. Smith, magdi h. El habbal,

lewis spitz (2007) paediatrics and

child health.

Encyclopedia of children‘s health

from

http://www.healthofchildren.com/g-

h/hypotonia.html.

Hypotonia(floppy syndrome) from

wikipedia the free encyclopedia.

Hypotonia - baby, symptoms,

definition, description,

demographics, causes and

symptoms, diagnosis from

http://www.healthofchildren.com/g-

h/hypotonia.

40 Pediatric conditions Hand notes

Neurodevelopmental

disorders

Definition

A neurodevelopmental disorder is an

impairment of the growth and development

of the brain at central nervous system. This

neurodevelopmental disorder cans effects

emotion, learning ability and memory.

Types of neurodevelopmental disorder

1. Cerebral palsy

2. Developmental delay

Cerebral Palsy

Definition: Cerebral palsy (CP) is a brain

paralysis. Cerebral palsy is a static brain

injury that is non- progressive disorder of

posture and movement.

Classification

Classification based on type of movement

disorder

Spastic type - there may be

intermittent increased tone and

pathological reflexes.

Athetoid - this is characterised by

increased activity (hyperkinesia).

This has been described as 'stormy

movement'.

Ataxic type - there may be loss of

orderly muscular co-ordination so

that movements are performed

with abnormal force, rhythm or

accuracy.

Mixed - there may be a combination

of several forms.

Classification based on distribution of

motor involvement

Motor deficits include:

Monoplegia

Diplegia

Hemiplegia

Triplegia

Quadriplegia

Double hemiplegia

The severity of gross motor impairment is

quantified using the Gross Motor Function

Classification System. This facilitates initial

assessment and monitoring response to

therapy.4,5

41 Pediatric conditions Hand notes

Classification based on a etiology

Classification can be according the timing of

the insult as prenatal (the most common),

natal, or postnatal.

Alternatively, it may depend on the actual

cause, such as congenital (developmental,

malformations, syndromic) or acquired

(traumatic, infectious, hypoxic, ischaemic,

TORCH (= toxoplasmosis, other, rubella,

cytomegalovirus, herpes simplex) infections,

and others).

Causes

Cerebral palsy may occur in prenatal, natal

and post natal. Child with cerebral palsy

experience:

Brain damage

failure of the brain to develop

properly (developmental brain

malformation) and neurological

damage to the child's developing

brain.

Athetoid ; basal ganglia -

responsible for processing the signals

that enable smooth, coordinated

movements and maintaining body

posture.

Ataxia; cerebellum - effect sense of

balance and depth perception.

Rigid spastic; premotor cortex at

cerebrum - uses information from

other cortical regions to select

movements appropriate to the

context of the action.

Atonic

◦ generalized atonic seizures :

entire brain

◦ partial atonic seizures : abnormal

activity in the frontal lobe or the

parietal lobe.

Mixed; both the pyramidal and

extrapyramidal areas of the brain.

Clinical Presentation

1 ) Early signs children with cerebral palsy :

Delayed milestones such as

◦ controlling head,

◦ rolling over,

◦ reaching with one

hand,

◦ sitting without

support,

◦ crawling,

◦ walking

Developing handedness before age

18 months.

2) Sign of children with cerebral palsy:

Abnormal muscle tone

Muscles may be very stiff (spastic)

or unusually relaxed and in awkward

positions

Abnormal movements

jerky movement and slow in writhing.

Skeletal deformities

People who have cerebral palsy on only one

side may have shortened limbs on the

affected side.

Joint contractures

severe stiffening of the joint

Mental retardation

Seizures

Speech problems

42 Pediatric conditions Hand notes

They are unable to control these muscles

and thus cannot speak normally.

Swallowing problems unable to

control these muscles will have

problems sucking, eating, drinking,

and controlling their saliva.

Therefore, they may drool.

Hearing loss

Vision problems weakness of the

muscles that control eye movement.

These people are often nearsighted.

Dental problems they have more

cavities than usual and difficulties

brushing the teeth.

Bladder control problems

These are caused by lack of muscle control.

Investigation

Cerebral palsy is usually diagnosed

when a child is very young. Sometimes a

doctor suspects an infant has CP if the baby

was premature and had complications

shortly before or after birth, such as bleeding

inside the brain or lung problems.

Doctors may also consider CP a possibility

if a baby doesn't sit up or begin to walk by a

certain age.

1 ) Doctors check suspected CP

child with a blood test.

Blood test

- Hormonal investigation

2) Doctor also tests the brain of CP

child by scan the brain, such as a CT

scan or MRI, may be used to detect a

damaged area of the brain.

Computed

tomography (CT) scan

This technique creates

images that show the

structure of the brain

and the areas of

damage.

Magnetic resonance

imaging (MRI) scan

Create an anatomical

picture of the brain's

tissues and structures.

Doctors prefer MRI

imaging because it

offers finer levels of

detail.

Cranial ultrasound.

To scan the type of

brain tissue that is damaged.

3) Doctor may order an

electroencephalogram (EEG) for

kids with seizures. An EEG uses

special patches called electrodes

placed on the scalp to record the

natural electrical currents inside the

brain. This recording can help the

doctor see telltale patterns in the

brain‘s electrical activity that

suggests a seizure disorder.

4) To diagnose CP, a doctor must do a

complete examination, paying close

attention to muscle tone and

strength, reflexes, and coordination.

43 Pediatric conditions Hand notes

Medical Management

1 ) Medication

Types of medication given to Cerebral Palsy

patient :

Baclofen

- It is a muscle relaxant

- It is given by mouth/ injected

directly into the spinal cord

(intrathecal injection).

- It help improve movement, speech,

swallowing and alertness.

Dantrolene

muscle relaxant

given in oral form.

relieve severe muscle spasms and

bring pain relief and increased

movement.

Sede- effect :cause serious liver

damage and disease, including

hepatitis and jaundice.

Botox / Botulinum toxin

- for muscles to relax.

- inject botox directly into the

spastic muscle.

-Dosage is based on body weight

- help reduce muscle spasticity

Flexeril (Cyclobenzadrine)

- muscle relaxant

- given orally

Anti-seizure Medications

Depakene (Valproic Acid)

given in tablet or liquid form.

help control and eliminate

seizures.

Valium (Diazepam)

- muscle relaxant

- given orally, intramuscularly or

by intravenous injection

- help relieve muscle spasms

Dilantin (Phenytoin)

- given by mouth, injection or

intravenously.

- help slow, control or stop

seizures.

Epival (Divalproex)

- given by mouth.

- help control or eliminate seizures.

Klonopin, Rivotril (Clonazepam)

- given by mouth in capsule form.

- control minor seizures

Tegretol (Carbamazepine)

- given by mouth

-help control or eliminate

seizures and help relieve pain

caused by neurological problems.

Zarontin (Ethosuximide)

- given in both capsule and liquid

form.

- help control or eliminate petit

mal seizures.

2) Surgery

-Orthopedic surgery is often

recommended when spasticity and stiffness

are severe enough to make walking and

moving about difficult or painful.

44 Pediatric conditions Hand notes

References

Neuromuscular disorder :

Occupational Therapy for

children by Jane Case –

Smith

Cerebral palsy :

http://www.medicinenet.com/

cerebral_palsy/article.htm

http://www.about-cerebral-

palsy.org/definition/spastic-

athetoid-ataxic.html

http://www.healing-

arts.org/children/cp/cpdrugs.h

tm#Dantrium

Chronic Cardiac Disorder

Definition

Heart is composed primarily with cardiac

muscle tissue that contract and relax without

stop until death. It must have a constant

supply of oxygen and nutrients. The damage

of cardiac muscle tissue will serve a

myocardial infarction or heart disease. It is

the chronic cardiac disorder.

Conditions affecting children may be

congenital or acquired. They can be child‘s

primary condition or can be associated with

other conditions like Down Syndrome.

Types of chronic cardiac disorder

conditions:

1. Congenital heart disease

- Meaning it is present from birth. It is the

problem with the structure or function of

heart as a result of an abnormality that

occurred during development of heart.

All congenital heart defects originate before

the end of the first trimester of gestatition, as

heart develops early in embryonic life and is

completely formed and functioning by 10

weeks.

It is divided into two types :

a) Cyanotic defects- blue discoloration

caused by a relative lack of oxygen.Blood is

shunted from right to left, and unoxygenated

is returned to the body. As a result, arterial

oxygen saturation levels fall below normal.

b) Acyanotic defects- oxygen saturation is

normal and the blood shunts from the left

side of heart to the right side. Thus,

45 Pediatric conditions Hand notes

oxygenated blood flows to the lung as well

as body. Common conditions : aortic

stenosis, atrial and ventricular septal defects,

coarctation of aorta, patent ductus arteriosis,

and endocardial cushion defect.

Major causes of this problem:

a) maternal infections

b) drug and alcohol during pregnancy.

c) chromosomal abnormalities and genetic

syndromes. (eg : Trisomy 21)

Sign and Symptoms

The symptoms of CHD become evident at

birth, during infancy, or even later in life.

Without interventions, some heart defect

may cause death, especially in infancy.

Symptoms of CHD :

Respiratory difficulties

Fatigue

Lack of tolerance for prone position.

Poor weight gain.

Feeding difficulties.

Investigation

-Impact to the children‘s occupational

performance...In childhood, commonly seen

deficits are in areas of play and activities of

daily living and also feeding.

- The body function most frequently affected

are the sensorimotor, especially motor and

neuromusculoskeletal.

- social participation in school or any

activities may be interrupted because of

bacterial illness, hospitalization and lack of

stamina.

- In adolescence, children with this illness

experience:

Delayed physiological maturation

Risk for psychosocial problems

Particularly anxiety

Depression

Poor self esteem and body image

Poor social interactions

Medical Management

1. To monitor patient‘s response activity.

2. Educate patient about disease process,

risk factors and lifestyle modifications.

3. Nitrate Drugs ( patch or spray)- use for

treatment and prevention of angina. Also for

treatment acute left ventricular failure. It is

used to treat acute chest pain, and if

symptoms change or unrelieved by nitrate

seek medical attention.

4. Beta-Andrenoceptor Antagonist-

Treatment of hypertension, Coronary artery

disease, Treatment for arrhythmia

(Following myocardial infarction, SVT, or

A.Fib), and Treatment for stable heart

failure..

5. Angiostensin Converting Enzyme

Inhibitors- for treatment of hypertension.

Prevention of cardiac remodeling following

myocardial infarction

2. Acquired Heart Disease (AHD)

This kind of heart disease is preventable if

precautions are taken and a pediatric

cardiologist informs the parent. This type of

heart disease occurs in childhood 1-4 per

1000 children.

46 Pediatric conditions Hand notes

Two most popular types of AHD are :

a) Kawasaki Disease

b) Rheumatic Heart Disease (RHD)

RHD is one of the most serious form of

heart disease of childhood and adolescene.

The disease involve damage of heart and

membrane.

Causes

It is caused by Rheumatic Fever. Rheumatic

Fever is an inflammatory disease which may

develop after an infection with streptococcus

bacteria, such as strep throat or scarlet fever.

It can involve the heart, joints, skin,

and brain.

It primarily affects the children between

ages 6 to 15 and occurs approximately 20

days after strep throat or scarlet fever.

Symptoms of RHD

Breathlessness

Fatigue

Palpitations

Chest pain

Fainting attacks.

And, symptoms of Rheumatic Fever:

Fever

Joint pain, migratory arthritis -- involving

primarily knees, elbows, ankles, and wrists

Joint swelling

Abdominal pain

Medical Management

Get a bed rest.

Administration of antibiotics

Anti-inflamontary medications.

May include surgery

The best way to prevent rheumatic heart

disease is to seek immediate medical

attention to a strep throat and not let it

progress to rheumatic fever.

* Strep throat is an infection of mucous

membrane lining the pharynx. It is caused

by bacteria. Sometimes the tonsils is

infected.

47 Pediatric conditions Hand notes

Common of Congenital Heart

Disease

1. Cyanotic: Tetralogy of Fallot.

It is the condition because of low oxygen

level in blood. This leads to cyanosis (bluish

purple colour to skin )

It also included four related defects of heart

and major blood vessels :

Ventricular Septal Defects ( hole

between right and left ventrical )

Narrowing of the pulmonary outflow

tract (valve and artery connect heart

with lung)

Overriding aorta ( artery that carry

oxygen rich blood to the body ),that

is shifted over the right ventricle and

ventricular septal defect, instead of

coming out from left ventricle.

Right ventricle hypertrophy

(thickened muscular wall of right

ventricle)

Tetralogy of Fallot is rare, but it is the most

common form of cyanotic congenital heart

disease. Patients with tetralogy of Fallot

have a higher incidence of major non-heart

congenital defects.

At birth, infants may not show signs of

cyanosis. However, later they may develop

sudden episodes (called "Tet spells") of

bluish skin from crying or feeding.

Factors that increase the risk this condition

during pregnancy :

Alcoholism in the mother

Diabetes

Mother who is over 40 years old

Poor nutrition during pregnancy

Rubella or other viral illnesses

during pregnancy

Symptoms

Clubbing of fingers (skin or bone

enlargement around the

fingernails)

Cyanosis, which becomes more

pronounced when the baby is upset

Difficult feeding (poor feeding

habits)

Failure to gain weight

Passing out

Poor development

Squatting during episodes of

cyanosis

Treatment

Surgery to repair tetralogy of Fallot is done

when the infant is very young. Sometimes

more than one surgery is needed. When

more than one surgery is used, the first

surgery is done to help increase blood flow

to the lungs.

Surgery to correct the problem may be done

at a later time. Often only one corrective

surgery is performed in the first few months

of life. Corrective surgery is done to widen

part of the narrowed pulmonary tract and

close the ventricular septal defect.

Expectations (prognosis)

Most cases can be corrected with surgery.

Babies who have surgery usually do well.

48 Pediatric conditions Hand notes

Ninety percent survive to adulthood and live

active, healthy, and productive lives.

Without surgery, death usually occurs by the

time the person reaches age 20.

Patients who have continued, severe

leakiness of the pulmonary valve may need

to have the valve replaced.

Regular follow-up with a cardiologist to

monitor for life-threatening arrhythmias

(irregular heart rhythms) is recommended.

If a child with tetralogy of Fallot becomes

blue, immediately place the child on his

or her side or back and put the knees up to

the chest. Calm the baby and seek medical

attention immediately.

2. Ventricular Spetal Defect (VSD)

Ventricular Spetal defect describes one or

more holes in the wall that separates the

right and left ventricles of the heart.

Ventricular Spetal defect is one of the most

common congenital (present from birth)

heart defects. It may occur by itself or with

other congenital diseases.

Causes

Before a baby is born, the right and left

ventricles of its heart are not separate. As

the fetus grows, a wall forms to separate

these two ventricles. If the wall does not

completely form, a hole remains. This hole

is known as a ventricular Spetal defect, or a

VSD.

The baby may have no symptoms, and the

hole can eventually close as the wall

continues to grow after birth. If the hole is

large, too much blood will be pumped to the

lungs, leading to heart failure.

The cause of VSD is not yet known. This

defect often occurs along with other

congenital heart defects.

Symptoms

Patients with ventricular Spetal defects may

not have symptoms. However, if the hole is

large, the baby often has symptoms related

to heart failure.

The most common symptoms include:

Shortness of breath

Fast breathing

Hard breathing

Paleness

Failure to gain weight

Fast heart rate

Sweating while feeding

Frequent respiratory infections

Investigation

Listening with a stethoscope usually reveals

a heart murmur (the sound of the blood

crossing the hole). The loudness of the

murmur is related to the size of the defect

and amount of blood crossing the defect.

Tests may include:

Chest x-ray -- looks to see if there

is a large heart with fluid in the

lungs

49 Pediatric conditions Hand notes

ECG -- shows signs of an enlarged

left ventricle

Echocardiogram -- used to make a

definite diagnosis

Cardiac catheterization (rarely

needed, unless there are concerns

of high blood pressure in the lungs)

MRI of the heart -- used to find out

how much blood is getting to the

lungs

*Electrocardiogram (ECG)- records the

electrical activity of heart.

An ECG is used to measure :

1. any damage to heart

2. size and position of your heart chamber

3. how fast your heart beating

4. effects of drugs or devices used to

control heart.

Medical Management

Baby with large VSD who have

symptoms may need medicine to control

it and suffer to close the hole.

Medications : digitalis (digoxin) and

diuretics.

If symptoms continued, surgery with a

Gore-Tex patch is needed. Some VSD can

be closed with a special device during

cardiac catherization (infrequently)

*catherization - involves passing a thin

flexible tube (catheter) into the right or

left side of the heart, usually from the

groin or the arm.

Do not drinking alcohol and using the

antiseizure medicine depakote and

dilantin during pregnancy to prevent

VSD.

3. Atrial Spetal Defect (ASD)

ASD is the defect which the wall separate

the upper heart chambers (atria) does not

close completely.

Causes

In fatal circulation, the atria are open to

allow blood to bypass to the lung. This

opening usually close around the time baby

is born.

If ASD is persistent, blood continues to flow

from left to right atria. This called a shunt. If

too much blood flows to the right of heart,

pressure in lungs will high. The problem

will occur if the shunt is too large, increased

pressure of the right side of heart would

result in reversal of blood flow..This will

result in shortness of breath.

Individual with ASD may risk for

developing number of complications:

Atrial fibrillation (in adults)

Heart failure

Pulmonary overcirculation

Pulmonary hypertension

Stroke

Symptoms

Small to moderate size may not produce

any symptoms.

Difficulty breathing (dyspnea)

50 Pediatric conditions Hand notes

Frequent respiratory infections in

children

Sensation of feeling the heart beat

(palpitations) in adults

Shortness of breath with activity

Investigation

Doctor may hear abnormal heart sounds

using stethoscope.

If the shunt is large, increased blood flow

across tricuspid valve may create an

additional murmur when heart relaxes

between beats.

Test may done :

Cardiac catheterization

Chest x-ray

Coronary angiography (for patients

over 35 years old)

Doppler study of the heart

ECG

Echocardiography

Heart MRI

Transesophageal echocardiography

(TEE)

Medical Management

Surgical closer is recommended if the

defect is large, heart is swollen, or

symptoms occur.

-The health care provider makes a tiny

surgical cut in the groin, then inserts the

catheters into a blood vessel and up into

the heart. The closure device is then

placed across the ASD and the defect is

closed.

*not all patients can have this procedure.

-Prophylactic (preventive) antibiotics

should be given prior to dental procedures

to reduce the risk of developing infective

endocarditis immediately after surgery for

the ASD, but they are not required later

on.

4. Patent Ductus Arteriousus

Patent = open

It is the condition which a blood vessel

called ductus arteriousus fails to close

normally at infant soon after birth.

The condition leads to abnormal blood

flow between aorta and pulmonary artery,

blood vessels that carry blood from the

heart.

Causes

Before birth, ductus arteriousus allows

blood to bypass the baby‘s lung by

connecting pulmonary arteries ( supply

blood to lung) with aorta (supply blood to

body). After infant is born, and lungs fill

with air, this blood vessels is no longer

needed.

- PDA affects girl more often than boy.

- Infants with genetic disorder, such as

Down syndrome, and whose mother has

rubella during pregnancy are higher risk

for PDA.

- PDA is common in babies with

congenital heart problems, such as

hypoplastic left heart syndrome,

51 Pediatric conditions Hand notes

transposition of great vessels, and

pulmonary ste nosis.

Symptoms

Small PDA may not causes any symptom

Bounding pulse

Fast breathing

Poor feeding habits

Shortness of breath

Sweating while feeding

Tiring very easily

Poor growth

Investigation

Babies with PDA often have a

characteristic heart murmur that can be

heard using stethoscope.

- In premature infants, heart murmur may

not hear. But, the doctor may suspect the

condition if infant has breathing or

feeding problems soon after birth.

- Changes may be seen on chest x-rays.

The diagnosis is confirmed with an

echocardiogram.

Medical Management

Medications such as indomethacin

or a special form of ibuprofen are

generally the first choice.

*indomethacin and ibuprofen -

Drug that used to relieve moderate

severe pain, tenderness, swelling

and stiffness. It works by stopping

body‘s production of substance

that causes pain, inflammation and

fever.

If these do not work, medical

procedures may be needed.

A transcatheter device closure is a

minimally invasive procedure that

uses a thin, hollow tube. The doctor

passes a small metal coil or other

blocking device through the catheter

to the site of the PDA. This blocks

blood flow through the vessel. Such

endovascular coils have been used

successfully as an alternative to

surgery.

Surgery may be needed if the

catheter procedure does not work or

cannot be used. Surgery involves

making a small cut between the ribs

to repair the PDA.

52 Pediatric conditions Hand notes

Traumatic Injuries

Introduction

Traumatic is an injury (referred as a wound)

to living tissue caused by an extrinsic agent.

It is also known as a disordered psychic or

behavioral state resulting from severe

mental or emotional stress or physical

injury. Injury means damage gained by a

biological organism. In this context,

traumatic injuries can be concluded as body

wound or shock produced by sudden

physical injuries. Traumatic injuries may

lead a patient to a difficult, abnormal and

strange life due to the traumatic injuries. He

or she might lose ability to do certain works

.in order to return to normal life, specific

treatments are needed and must be done

carefully and consistently. The examples of

traumatic injuries are fractures, congenital

hip dislocation and head injuries. These

abnormal conditions are going to be

described with full details.

Fractures

Definition

A fracture is the separation of an object or

material into two or more due to the action

of stress. In the medical term, fracture is

more often applied to the broken bones in

the biological organism such as Homo

sapiens, human. Broken bones or fracture

mostly occurs due to high physical force

exerted on the bones such as jumping,

collapsing hard materials with high impact

and overlayed by heavy items.

Types of fractures

Closed (simple) fractures are those in

which the skin is intact

Open (compound) fractures are

wounds that relate with the fracture, or

where fracture hematoma is exposed,

and may thus expose bone

to contamination. Open injuries may

carry more risky infection

Complete fracture: a fracture in which

bone fragments separate completely.

Incomplete fracture: a fracture in

which the bone fragments are still

partially joined.

Linear fracture: a fracture that is

parallel to the long of bone axis.

Transverse fracture: a fracture that is at

a right angle to the long of bone axis

Oblique fracture: a fracture that is

diagonal to a long of bong axis.

Spiral fracture: a fracture where at least

part of bone has been twisted

53 Pediatric conditions Hand notes

Comminuted fracture: a fracture in

which the bone has broken into a

number of pieces.

Impacted fracture: a fracture caused

when bone fragments are driven into

each other.

Causes

Advanced age

Certain genetic disorders

Excessive tobacco or alcohol

consumption

Female gender

Lack of physical activity on a regular

basis

Lack of proper nutrition, especially

calcium

Osteoporosis (thinning and

weakening of the bones)

Participation in sports

Thyroid or endocrine disorders

Vitamin deficiencies

Symptoms

Bleeding

Inability to move a joint

Numbness and tingling in the

affected region

Redness and warmth

Bruising

Signs

Pain

Swelling

Bruising.

Redness

Deformity

Diagnosis

Physical examination

Most fractures cause swelling, deformity,

and pain on attempted movement. In non-

communicative patients, refusal to mobilize

extremely may be the only sign of a fracture

or dislocation. Carrying out an assessment

of the sensory, motor and circulatory status

of the injured extremity is important before

therapy is initiated. After application of a

cast, splint, or traction or after manipulation

of a fractured extremity. Reevaluation of

neuromuscular of the limb should be carried

out always. When injury or makes physical

examination unreliable, x-rays are required

to detect a fracture.

54 Pediatric conditions Hand notes

Diagnostic tests

X-rays:

X-ray should include both anteroposterior

and lateral views. On a single view, the

characteristic displacement, discontinuity in

contour, or altered alignment of a fracture

may be hidden because of overlap of

projection, oblique views can be helpful.

Computed tomography:

Computed tomography is a useful adjunct to

plain x-rays in several circumstances

visualization of occult fracture can be

obtained. It determines the extent of

articular surface disruption in joint fractures.

Then, it may assess suspected pathologic

fractures.

Magnetic resonance imaging (MRI):

Providing excellent tomography, soft tissue

contrast and spartial resolution using

noninvasive and ionizing radiation

technology.mri also helps evaluating

pathologic fractures. It can also view occult

fractures.

Bone scan:

Using 99m

tc-labeled pyrophosphate or

similar radioactive analogs. It detects focal

injury of bone. It also scans whole body.

Medical management

Splinting

Prevents movement in the joints and bones

above and below of the fracture site. This is

to prevent bone edges from moving and

creating additional injuries at tissue,

muscles, vessels or nerves.

Examples of splinting:

Padded boards and rigid splints made of

foam or cardboard are commonly used for

upper- and lower-extremity fractures.

Vacuum splints are essentially large air

bladders that wrap around the affected

extremity and are inflated to provide

rigidity.

Traction splints are used to immobilize

fractures of the femur. These types of splints

use tension that's created by pulling straps to

place the bone in alignment.

55 Pediatric conditions Hand notes

Head injuries

Head injury is trauma of the head. A head

injury is any trauma that leads to injury of

the scalp, skull, or brain. The injuries can be

ranged from a minor bump on the skull to

serious brain injury.

Types of head injury

Skull fracture

Hemorrhage of the skin

Traumatic subdural hematoma

Traumatic extradural

Traumatic subarachnoid hemorrhage

Cerebral contusion

Concussion

Dementia pugilistica

A severe injury may lead to a coma

or death

Shaken baby syndrome - a form of

child abuse

Causes

Motor vehicle collisions

Home

Occupational accidents

Falls

Assaults

Bicycle accidents

Wilsons disease

Signs

Coma

Confusion

Drowsiness

Personality change

Seizures

Nausea

Vomiting

Headache

Lucid interval

Symptoms

loss of consciousness

headache

nausea

vomiting

dizziness

memory loss

behavioral changes

blurred vision

irritability

seizures

balance problems

Diagnosis

Computerized tomography (ct) scan of the

head allows the brain to be

imaged,visualized and examined for

bleeding and swelling in the brain. It can

56 Pediatric conditions Hand notes

also evaluate bony injuries to the skull and

look for bleeding in the sinuses of the face.

Medical management

The brain has been severely damaged by

trauma, neurosurgical evaluation may be

necessary. Treatments involve controlling

elevated intracranial pressure. Paralytics

Cerebrospinal fluid diversion

Decompressive craniectomy

Barbiturate coma

Hypertonic saline

Hypothermia.

References

Http://medical-

dictionary.thefreedictionary.com/traumatic+

injury

Http://www.webmd.com/a-to-z-

guides/understanding-fractures-basic-

information

Http://medical-

dictionary.thefreedictionary.com/incomplete

+fracture

Http://emedicine.medscape.com/article/1248

135-overview

57 Pediatric conditions Hand notes

Sensory Impairments

Definition:

It refers to a defect in sensing and passing

on the impulse. It leads in absence of

sensation and neuronal-coordination. People

that have sensory impairments: not able to

smell, view, hear, feel and react to the

stimuli given to the respective sensory

organs.

Types of sensory impairments:

Visual impairment: is the vision loss

resulting from disease, trauma or congenital

condition. (example: blind)

Hearing impairments: is refers to hard in

hearing or deafness. The individuals are

fully or partially unable to detect at least

some frequency sound that can be heard by

most people.

Olfactory and gustatory impairments:

Impairment of the sense of smell and taste

are commonly associated with aging but can

also occur in younger people due to a wide

variety of causes.

Anosmia – inability to smell

Dysosmia – things smell different

than they should

Hyperosmia– an abnormally acute

sense of smell.

Hyposmia– decreased ability to smell

Olfactory Reference Syndrome–

psychological disorder which causes

the patient to imagine he has strong

body odor

Parosmia – things smell worse than

they should

Phantosmia– "hallucinated smell,"

often unpleasant in nature

Somatosensory Impairments: Insensitivity to

stimuli such as touch, heat, cold, and pain

are often an adjunct to a more general

physical impairment involving neural

pathways and is very commonly associated

with paralysis

Deaf blindness:

1. Congenital deaf blindness is when

someone is born with combined sight and

hearing difficulties.

2. Acquired deaf blindness is when they

develop these problems later in life due to an

accident, illness or as a result of ageing in

later life.

Causes of Sensory Impairments

Blindness: diabetes, cataracts,

glaucoma, stroke, leprosy and

vitamin A deficiency.

Deafness: earwax blockage, aging,

prolonged exposure to loud noises

and ear infections.

Olfactory and gustatory

impairments: aging process, upper

respiratory infection, oral and

perioral infections.

Deaf blindness: premature birth, fetal

alcohol syndrome, rubella and

trauma related.

58 Pediatric conditions Hand notes

Clinical Presentation

Signs and symptoms of hearing loss may

include:

Muffled quality of speech and other

sounds

Difficulty understanding words,

especially against background noise

or in a crowd of people

Frequently asking others to speak

more slowly, clearly and loudly

Needing to turn up the volume of the

television or radio

Withdrawal from conversations

Avoidance of some social settings

Signs and symptoms of visual

impairments:

Flashing lights

Distorted vision

Blurred vision

Blind spot

Investigation

Diagnosis of blindness: by visual acuity

testing in each eye individually and by

measuring the visual field or peripheral

vision. People may have blindness in one

(unilateral blindness) or both eyes (bilateral

blindness). Historical information regarding

the blindness can be helpful in diagnosing

the cause of blindness. Poor vision that is

sudden in onset differs in potential causes

than blindness that is progressive or chronic.

Temporary blindness differs in cause from

permanent blindness. The cause of blindness

is made by examination of all parts of the

eye by an ophthalmologist.

Diagnosis of deafness:

General screening tests. Your doctor

may ask you to cover one ear at a

time to see how well you hear words

spoken at various volumes and how

you respond to other sounds.

Tuning fork tests. Tuning forks are

two-pronged, metal instruments that

produce sounds when struck. Simple

tests with tuning forks can help your

doctor detect hearing loss. A tuning

fork evaluation may also reveal

whether hearing loss is caused by

damage to the vibrating parts of your

middle ear (including your eardrum),

damage to sensors or nerves of your

inner ear, or damage to both.

Audiometer tests. During these

more-thorough tests conducted by an

audiologist, you wear earphones and

hear sounds directed to one ear at a

time. The audiologist presents a

range of sounds of various tones and

asks you to indicate each time you

hear the sound. Each tone is repeated

at faint levels to find out when you

can barely hear.

Medical Management

Hearing impairments:

Removing wax blockage. Earwax

blockage is a common reversible

cause of hearing loss. Your doctor

may remove earwax by loosening it

with oil and then flushing, scooping

59 Pediatric conditions Hand notes

or suctioning the softened wax out.

Hearing aids. If your hearing loss is

due to damage to your inner ear, a

hearing aid can be helpful by making

sounds stronger and easier for you to

hear. In some cases, you may be

satisfied with an inexpensive, over-

the-ear microphone device available

at electronic stores.

Cochlear implants. If you have

severe hearing loss, a cochlear

implant may be an option for you.

Unlike a hearing aid that amplifies

sound and directs it into your ear

canal, a cochlear implant

compensates for damaged or

nonworking parts of your inner ear.

Vision Impairments: The treatment of

blindness depends on the cause of blindness.

In third-world nations where there

are many people who have poor

vision as a result of a refractive error,

merely prescribing and giving

glasses will alleviate the problem.

Nutritional causes of blindness can

be treating by dietary changes.

People who are blind from cataracts.

In these patients, cataracts surgery

would, in most cases, restore their

sight.

Inflammatory and infectious causes

of blindness can be treated with

medication in the form of drops or

pills.

References

http://health.nytimes.com/health/guid

es/symptoms/blindness/overview.ht

ml

http://www.mayoclinic.com/health/h

earing-

loss/DS00172/DSECTION=causes

http://www.mayoclinic.com/health/h

earing-

loss/DS00172/DSECTION=sympto

ms

http://www.cdbrabc.ca/causes_of_db

1.htm

http://www.wellsphere.com/healthy-

living-article/5-symptoms-that-

could-mean-you-are-going-

blind/1279733

http://www.medicinenet.com/blindne

ss/page3.htm#treatment

60 Pediatric conditions Hand notes

Down syndrome

Definition

Down's syndrome (primarily in the United

Kingdom), trisomy 21, is a chromosomal

condition caused by the presence of all or

part of an extra 21st chromosome. It is

named after John Langdon Down, the

British physician who described the

syndrome in 1866

Down syndrome is a chromosomal

condition characterized by the

presence of an extra copy of genetic

material on the 21st chromosome,

either in whole (trisomy 21) or part

(such as due to translocations). The

effects and extent of the extra copy

vary greatly among people,

depending on genetic history, and

pure chance. The incidence of Down

syndrome is estimated at 1 per 733

births, although it is statistically

more common with older parents

(both mothers and fathers) due to

increased mutagenic exposures upon

some older parents' reproductive

cells

Often Down syndrome is associated

with some impairment of cognitive

ability and physical growth, and a

particular set of facial characteristics.

Individuals with Down syndrome

tend to have a lower-than-average

cognitive ability, often ranging from

mild to moderate disabilities. Many

children with Down syndrome who

have received family support,

enrichment therapies, and tutoring

have been known to graduate from

high school and college, and enjoy

employment in the work force. The

average IQ of children with Down

syndrome is around 50, compared to

normal children with an IQ of 100. A

small number have a severe to high

degree of intellectual disability.

Individuals with Down syndrome

may have some or all of the

following physical characteristics:

microgenia (an abnormally small

chin), an unusually round face,

macroglossia (protruding or

oversized tongue), an almond shape

to the eyes caused by an epicanthic

fold of the eyelid, upslanting

palpebral fissures (the separation

between the upper and lower

eyelids), shorter limbs, a single

transverse palmar crease (a single

instead of a double crease across one

or both palms), poor muscle tone,

and a larger than normal space

between the big and second toes.

Health concerns for individuals with

Down syndrome include a higher

risk for congenital heart defects,

gastroesophageal reflux disease,

recurrent ear infections that may lead

to hearing loss, obstructive sleep

apnea, and thyroid dysfunctions.

Causes

1. Genetic passing through metabolic

diseases: The disease is passing

through from the parent to the baby.

Genetic and metabolic disorder is

difficult to diagnosis in the new

born. The baby will look healthy and

will not have symptom when they

are born, because the disease will not

attack until the time when children

start contact their surrounding

environment.

61 Pediatric conditions Hand notes

2. Immune disorder : The immune

function becomes react to certain

situations and starts to attack the

brain tissues, it is important to

abnormal movements of body,

disturb in emotion and

obsessive(thinking too much)

disorder symptoms.

3. Infectious disease : Infectious

diseases is defined as a type of

disease that can transmit from the

carrier to other person through one or

more of type of ways, include

physical contact, share food, body

fluid, and so on.

4. Nutritional deficiency: Women

who have folic acid and iodine

deficiency during their pregnancy

can cause risk to their babies in

contact neurodevelopmental

disorders, leading to excessive

mental retardation. Taking of both

can cause brain damage as it result of

toxins carry forward in the new born

central nervous system.

5. Physical trauma : Most cases of

physical trauma is caused by

congenital injury, it happen because

of injured as result of lack of oxygen

to the brain or damage to the brain

tissues, leading to cerebral palsy that

cause lasting physical disability in

child development.

6. Environment toxic: 5000

environment toxins have made of

human, include heavy metals such as

lead and mercury. If the child is

unlucky to have high levels of heavy

metal are gathered in their brain to

detoxification dysfunction of body

organs, it can caused brain damage,

known to impairment of emotional

and physical development.

7. Medication: Some vaccines are use

to protect the child at the beginning

of the disease. One of the vaccine,

thimerosal contains 50 time more

toxins than the free mercury, if the

baby not remove them, it will cause

mercury in the brain, leading to brain

damage and consider the child

development.

Signs and symptoms

Down syndrome are characterized by

the neotenization of the brain and

body to the fetal state. Down

syndrome is characterized by

decelerated maturation (neoteny),

Incomplete morphogenesis (vestigia)

and atavisms.

Down syndrome can result from several

different genetic mechanisms. This results in

a wide variability in individual due to

complex gene and environment interactions.

Prior to birth, it is not possible to predict the

symptoms that an individual with Down

syndrome will develop.

Physical characteristics

Individuals with Down syndrome

may have some or all of the

following physical characteristics:

Microgenia (abnormally small chin),

oblique eye fissures with epicanthic

skin folds on the inner corner of the

eyes (formerly known as a

mongoloid fold),

Muscle hypotonia (poor muscle

tone), a flat nasal bridge, a single

62 Pediatric conditions Hand notes

palmar fold, a protruding tongue

(due to small oral cavity, and an

enlarged tongue near the tonsils)

Macroglossia "face is flat and broad"

a short neck, white spots on the iris

known as Brushfield spots,

excessive joint laxity including

atlanto-axial instability,

Excessive space between large toe

and second toe, a single flexion

furrow of the fifth finger, a higher

number of ulnar loop dermatoglyphs

and short fingers.

Growth parameters such as height,

weight, and head circumference are

smaller in children with DS than

with typical individuals of the same

age. Adults with DS tend to have

short stature and bowed legs—the

average height for men is 5 feet

1 inch (154 cm) and for women is 4

feet 9 inches (144 cm). Individuals

with DS are also at increased risk for

obesity as they age and tend to be

"round in shape".

Charact

eristics

Perce

ntage

Charact

eristics

Perce

ntage

Mental

retardatio

n

100% Small

teeth

60%

Stunted

growth

100% Flattened

nose

60%

Atypical

fingerprin

ts

90% Clinodacty

ly

52%

Separatio

n of the

abdomina

l muscles

80% Umbilical

hernia

51%

Flexible

ligaments

80% Short neck 50%

Hypotoni

a

80% Shortened

hands

50%

Brachyce

phaly

75% Congenital

heart

45%

disease

Smaller

genitalia

75% Single

transverse

palmar

crease

45%

Eyelid

crease

75% Macroglos

sia (larger

tongue)

43%

Shortened

extremitie

s

70% Epicanthal

fold

42%

Oval

palate

69% Strabismu

s

40%

Low-set

and

rounded

ear

60% Brushfield

spots (iris)

35%

Mental characteristics

Most individuals with Down

syndrome have intellectual disability

in the mild (IQ 50–70) to moderate

(IQ 35–50) range, with individuals

having Mosaic Down syndrome

typically 10–30 points higher

Language skills show a difference

between understanding speech and

expressing speech, and commonly

individuals with Down syndrome

have a speech delay. Fine motor

skills are delayed and often lag

behind gross motor skills and can

interfere with cognitive

development. Effects of the

condition on the development of

gross motor skills are quite variable.

Some children will begin walking at

around 2 years of age, while others

will not walk until age 4. Physical

therapy, and/or participation in a

program of adapted physical

education (APE), may promote

enhanced development of gross

motor skills in Down syndrome

children

63 Pediatric conditions Hand notes

Screening

Pregnant women can be screened for various

complications during pregnancy. Many

standard prenatal screens can discover

Down syndrome.

Genetic counseling along with

genetic testing, such as

amniocentesis, chorionic villus

sampling (CVS), or percutaneous

umbilical cord blood sampling

(PUBS) are usually offered to

families who may have an increased

chance of having a child with Down

syndrome, or where normal prenatal

exams indicate possible problems.

Amniocentesis and CVS are

considered invasive procedures, in

that they involve inserting

instruments into the uterus, and

therefore carry a small risk of

causing fetal injury or miscarriage.

The risks of miscarriage for CVS and

amniocentesis are often quoted as

1% and 0.5% respectively. There are

several common non-invasive

screens that can indicate a fetus with

Down syndrome. These are normally

performed in the late first trimester

or early second trimester. Due to the

nature of screens, each has a

significant chance of a false positive,

suggesting a fetus with Down

syndrome when, in fact, the fetus

does not have this genetic condition.

Screen positives must be verified

before a Down syndrome diagnosis

is made.

Health problems

Individuals with Down syndrome have a

higher risk for many conditions. The

medical consequences of the extra genetic

material in Down syndrome are highly

variable and may affect the function of any

organ system or bodily process. Some

problems are present at birth, such as certain

heart malformations. Others become

apparent over time, such as epilepsy.

Congenital heart disease

The incidence of congenital heart disease in

children with Down syndrome is up to 50%.

An atrioventricular septal defect also known

as endocardial cushion defect is the most

common form with up to 40% of patients

affected. This is closely followed by

ventricular septal defect that affects

approximately 30% of patients.

Malignancies

Hematologic malignancies such as leukemia

are more common in children with DS. In

particular, the risk for acute lymphoblastic

leukemia is at least 10 times more common

in DS and for the megakaryoblastic form of

acute myelogenous leukemia is at least 50

times more common in DS. Transient

leukemia is a form of leukemia that is rare in

individuals without DS but affects up to 20

percent of newborns with DS. This form of

leukemia is typically benign and resolves on

its own over several months, though it can

lead to other serious illnesses. In contrast to

hematologic malignancies, solid tumor

malignancies are less common in DS,

possibly due to increased numbers of tumor

suppressor genes contained in the extra

genetic material.

Decreased incidence of many cancer types

Health benefits of Down syndrome include

greatly reduced incidence of many common

malignancies except leukemia and testicular

cancer

64 Pediatric conditions Hand notes

Thyroid disorders

Individuals with DS are at increased risk for

dysfunction of the thyroid gland, an organ

that helps control metabolism. Low thyroid

(hypothyroidism) is most common,

occurring in almost a third of those with DS.

This can be due to absence of the thyroid at

birth (congenital hypothyroidism) or due to

attack on the thyroid by the immune system

Gastrointestinal

Down syndrome increases the risk of

Hirschsprung's disease, in which the nerve

cells that control the function of parts of the

colon are not present.[ This results in severe

constipation. Other congenital anomalies

occurring more frequently in DS include

duodenal atresia, annular pancreas, and

imperforate anus. Gastroesophageal reflux

disease and celiac disease are also more

common among people with DS.

Infertility

There is infertility among both males and

females with Down syndrome; males are

usually unable to father children, while

females demonstrate significantly lower

rates of conception relative to unaffected

individuals.[citation needed]

Women with DS are

less fertile and often have difficulties with

miscarriage, premature birth, and difficult

labor. Without preimplantation genetic

diagnosis, approximately half of the

offspring of someone with Down syndrome

also have the syndrome themselves. Men

with DS are almost uniformly infertile,

exhibiting defects in spermatogenesis. There

have been only three recorded instances of

males with Down syndrome fathering

children.

Neurology

Children and adults with DS are at increased

risk for developing epilepsy. The risk for

Alzheimer's disease is increased in

individuals with DS, with 10–25% of

individuals with DS showing signs of AD

before age 50, up to 50% with clinical

symptoms in the sixth decade, and up to

75% in the 7th decade. This sharp increase

in the incidence and prevalence of dementia

may be one of the factors driving the

decreased life expectancy of persons with

Down Syndrome.

Ophthalmology and otolaryngology

Eye disorders are more common in people

with DS. Almost half have strabismus, in

which the two eyes do not move in tandem.

Refractive errors requiring glasses or

contacts are also common. Cataracts

(opacity of the lens), keratoconus (thin,

cone-shaped corneas), and glaucoma

(increased eye pressures) are also more

common in DS Brushfield spots (small

white or grayish/brown spots on the

periphery of the iris) may be present.

Hearing loss

In the past, prior to current treatment, there

was a 38–78% incidence of hearing loss in

children with Down syndrome. Fortunately,

with aggressive, meticulous and compulsive

diagnosis and treatment of chronic ear

disease (e.g. otitis media, also known as

Glue-ear) in children with Down syndrome,

approximately 98% of the children have

normal hearing levels.

However, more recent studies show that

hearing impairment and otological problems

are still found in 38-90% of children with

65 Pediatric conditions Hand notes

Down syndrome compared to 2.5% for

normal children.

The elevated occurrence of hearing loss for

individuals with Down is not surprising.

Every component in the auditory system is

potentially adversely affected by Down

syndrome[. Problems may include:

Stenosis of the ear canal

Malformation of the malleus, incus, and

stapes

Shortened or narrow cochlea

Neural transmission rates that are

accelerated (at the level or brainstem) or

delayed (at the level of the cortex)

Weak immune system leading to

increased middle ear pathology

Otitis media with effusion is the most

common cause of hearing loss in Down

children, the infections start at birth and

continue throughout the children‘s lives. The

ear infections are mainly associated with

Eustachian tube dysfunction due to

alterations in the skull base. However,

excessive accumulation of wax can also

cause obstruction of the outer ear canal as it

is often narrowed in children with Down

syndrome. Middle ear problems account for

83% of hearing loss in children with Down

syndrome. The degree of hearing loss varies

but even a mild degree can have major

consequences on speech perception,

language acquisition, development and

academic achievement if not detected in

time and corrected.

Early intervention to treat the hearing loss

and adapted education is useful to facilitate

the development of children with Down

syndrome, especially during the preschool

period. For adults, social independence

depends largely on the ability to complete

tasks without assistance, the willingness to

separate emotionally from parents and

access to personal recreational activities.

Given this background it is always important

to rule out hearing loss as a contributing

factor in social and mental deterioration.

Other complications

Instability of the atlanto-axial joint occurs in

approximately 15% of people with DS,

probably due to ligamental laxity. It may

lead to the neurologic symptoms of spinal

cord compression.[83]

Periodic screening,

with cervical x-rays, is recommended to

identify this condition.

Other serious illnesses include immune

deficiencies.

Prognosis

The above factors can contribute to a shorter

life expectancy for people with Down

syndrome. One study, carried out in the

United States in 2002, showed an average

lifespan of 49 years, with considerable

variations between different ethnic and

socio-economic groups. However, in recent

decades, the life expectancy among persons

with Down syndrome has increased

significantly up from 25 years in 1980. The

causes of death have also changed, with

chronic neurodegenerative diseases

becoming more common as the population

ages. Most people with Down Syndrome

who live into their 40s and 50s begin to

suffer from an Alzheimer's disease-like

dementia.

Management

Treatment of individuals with Down

syndrome depends on the particular

manifestations of the condition. For

instance, individuals with congenital heart

disease may need to undergo major

corrective surgery soon after birth. Other

66 Pediatric conditions Hand notes

individuals may have relatively minor health

problems requiring no therapy.

Examination at birth

Initial examination of newborns with DS

should pay particular attention to certain

physical signs that are more commonly

found in DS. Evaluation of the red reflex

can help identify congenital cataracts.

Movement of the eyes should be observed to

identify strabismus. Constipation should

raise concerns for Hirschsprung's disease

and feeding problems should prompt intense

education to ensure adequate input and

nutrition.

At birth, an ultrasound of the heart

(echocardiogram) should be done

immediately in order to identify congenital

heart disease (this should be carried out by

someone with experience in pediatric

cardiology). A complete blood count should

be done in order to identify pre-existing

leukemia. A hearing test using brainstem

auditory evoked responses (BAERS) testing

should be performed and any hearing

deficits further characterized. The thyroid

function should also be tested. Early

Childhood Intervention should be involved

from birth to help coordinate and plan

effective strategies for learning and

development.

The American Academy of Pediatrics,

among other health organizations, has issued

a series of recommendations for screening

individuals with Down Syndrome for

particular diseases. These guidelines enable

health care providers to identify and prevent

important aspects of DS. All other typical

newborn, childhood, and adult screening and

vaccination programs should also be

performed.

Plastic surgery

Plastic surgery has sometimes been

advocated and performed on children with

Down syndrome, based on the assumption

that surgery can reduce the facial features

associated with Down syndrome, therefore

decreasing social stigma, and leading to a

better quality of life. Plastic surgery on

children with Down syndrome is

uncommon, and continues to be

controversial. Researchers have found that

for facial reconstruction, "...although most

patients reported improvements in their

child's speech and appearance, independent

raters could not readily discern

improvement.... For partial glossectomy

(tongue reduction), one researcher found

that 1 out of 3 patients "achieved oral

competence," with 2 out of 3 showing

speech improvement.

Cognitive development

The identification of the best

methods of teaching each particular

child ideally begins soon after birth

through early intervention programs.

Cognitive development in children

with Down syndrome is quite

variable. It is not currently possible

at birth to predict the capabilities of

any individual reliably, nor are the

number or appearance of physical

features predictive of future ability.

Since children with Down syndrome

have a wide range of abilities,

success at school can vary greatly,

which underlines the importance of

evaluating children individually. The

cognitive problems that are found

among children with Down

syndrome can also be found among

other children. Therefore, parents

can use general programs that are

67 Pediatric conditions Hand notes

offered through the schools or other

means.

Individuals with Down syndrome

differ considerably in their language

and communication skills. It is

routine to screen for middle ear

problems and hearing loss; low gain

hearing aids or other amplification

devices can be useful for language

learning. Early communication

intervention fosters linguistic skills.

Language assessments can help

profile strengths and weaknesses; for

example, it is common for receptive

language skills to exceed expressive

skills. Individualized speech therapy

can target specific speech errors,

increase speech intelligibility, and in

some cases encourage advanced

language and literacy. Augmentative

and alternative communication

(AAC) methods, such as pointing,

body language, objects, or graphics

are often used to aid communication.

Relatively little research has focused

on the effectiveness of

communications intervention

strategies.[94]

In education, mainstreaming of

children with Down syndrome is

becoming less controversial in many

countries. For example, there is a

presumption of mainstream in many

parts of the UK. Mainstreaming is

the process whereby students of

differing abilities are placed in

classes with their chronological

peers. Children with Down

syndrome may not age

emotionally/socially and

intellectually at the same rates as

children without Down syndrome, so

over time the intellectual and

emotional gap between children with

and without Down syndrome may

widen. Complex thinking as required

in sciences but also in history, the

arts, and other subjects can often be

beyond the abilities of some, or

achieved much later than in other

children. Therefore, children with

Down syndrome may benefit from

mainstreaming provided that some

adjustments are made to the

curriculum.

68 Pediatric conditions Hand notes

CHILDREN WITH

MOVEMENT

DISORDERS

Ataxia

Definition

Ataxia is defined as delayed initiation of

movement responses, errors in range and

force of movement, and errors in the rate

and regularity of movement.

The agonist and antagonist muscle group is

in poor coordination. In jerky and poorly

controlled movements is result from this.

When a patient with ataxia reaches for an

object, it is apparent that the shortest

distance between the patient and object is

not a straight line. The patient with gait

ataxia has a staggering, wide-based gait with

reduced or no arm swing. The patient may

have a tendency to fall and their step length

may be uneven. The patient with cerebellar

dysfunction isolated to only one cerebeller

hemisphere will have a tendency to fall on

the side of the lesion or dysfunction due to

the ipsilateral influence of the cerebellum on

the lower motor neurons. Ataxia will result

in poor postural stability. Ataxia can occur

in the entire body, in the trunk, or in the UEs

and LEs. Ataxia in the UEs causes

dysfunction in activities in which the patient

attemps to perform a combination of gross

and find motor movements, such as bringing

a glass of water to the mouth. The UEs

oscillates back and forth, causing the water

to spill. Ataxia in the LEs results in an

impaired ability to ambulate while

maintaining balance.

Types

Cerebellar Vestibular ataxia

Ataxia

Sensory ataxia

(1) Cerebellar Ataxia

The term cerebellar ataxia is used to

indicate ataxia that is due to

dysfunction of the cerebellum.

Variety of elementary neurological

deficits is cause by this, such as

antagonist hypotonia, asynergy,

dysmetria, dyschronometria,

and dysdiadochokinesia. These

abnormalities manifest themselves

depends on which cerebellar

structures have been damaged, and

whether the lesion is bilateral or

unilateral impairs the balance and the

control of eye movements is effect

from dysfunction of

the vestibulocerebellum . This

presents itself with postural

instability, in which the patient tends

to separate his/her feet upon

standing, in order to gain a wider

base and to avoid titubation (bodily

oscillations tending to be forward-

backward ones). The instability is

therefore worsened when standing

with the feet together, regardless of

69 Pediatric conditions Hand notes

whether the eyes are open or closed.

The Romberg's test is negative. It

denotes the individual's inability to

carry out the test, because the

individual feels unstable even with

open eyes.

Next, dysfunction of

the spinocerebellum presents itself

with a wide-based "drunken sailor"

gait (called truncal ataxia),

characterised by uncertain starts and

stops, lateral deviations, and unequal

steps.

Then, disturbances in carrying out

voluntary, planned movements by

the extremities (called appendicular

ataxia) is effect from dysfunction of

the cerebrocerebellum. These

include, intention tremor (coarse

trembling, accentuated over the

execution of voluntary movements,

possibly involving the head and eyes

as well as the limbs and torso); then,

peculiar writing abnormalities (large,

unequal letters, irregular

underlining); a peculiar pattern

of dysarthria (slurred speech,

sometimes characterised by

explosive variations in voice

intensity despite a regular rhythm).

There also inability to perform

rapidly alternating movements,

known as dysdiadochokinesia. This

could involve rapidly switching

from pronation to supination of the

forearm. Movements become more

irregular with increases of speed.

Furthermore, cannot judge distances

or ranges of movement. This is

known as dysmetria. It‘s often seen

as undershooting, hypometria, or

overshooting, hypermetria, the

required distance or range to reach a

target. This is sometimes seen when

a patient is asked to reach out and

touch someone's finger or touch their

own nose.

Lastly, the rebound phenomenon,

also known as the loss of the check

reflex is also sometimes seen in

patients with cerebellar ataxia. When

a patient is flexing their elbow

isometrically against a resistance.

When the resistance is suddenly

removed without warning, the

patient's arm may swing up and even

strike themselves. With an intact

check reflex, the patient will check

and activate the opposing triceps to

slow and stop the movement. This is

some example of cerebellar ataxia

with dysfunction of

the cerebrocerebellum.

(2) Sensory Ataxia

The term sensory ataxia is employed

to indicate ataxia due to loss

of proprioception, the loss of

sensitivity to the positions of joint

and body parts. Dysfunction of

the dorsal columns of the spinal cord

is generally caused, because they

carry proprioceptive information up

to the brain. In some cases, the cause

of sensory ataxia may instead by

70 Pediatric conditions Hand notes

dysfunction of the various parts of

the brain which receive positional

information, including the

cerebellum, thalamus, and parietal

lobes.

Sensory ataxia presents itself with an

unsteady "stomping" gait with

heavy heel strikes, as well as a

postural instability that is usually

worsened when the lack of

proprioceptive input cannot be

compensated for by visual input,

such as in poorly lit environments.

Physicians can find evidence of

sensory ataxia during physical

examination by having the patient

stand with his/her feet together

and eyes shut. This will cause the

instability to worsen markedly,

producing wide oscillations and

possibly a fall in affected patients.

This is called a positive Romberg's

test. Worsening of the finger-

pointing test with the eyes closed is

another feature of sensory ataxia.

Also, when the patient is standing

with arms and hands extended

toward the physician, if the eyes are

closed, the patient's finger will tend

to "fall down" and then be restored

to the horizontal extended position

by sudden muscular contractions.

(3) Vestibular Ataxia

The term vestibular ataxia is

employed to indicate ataxia due to

dysfunction of the vestibular

system, which in acute and

unilateral cases is associated with

prominent vertigo, nausea and vo

miting. In slow-onset, chronic

bilateral cases of vestibular

dysfunction, these characteristic

manifestations may be absent,

and dysequilibrium may be the

sole presentation.

Causes

The three types of ataxia have

overlapping causes, and therefore can either

coexist or occur in isolation. It‘s focal

lesions, exogenous substances, radiation

poisoning, vitamin B12 deficiency, causes

of insolated sensory ataxia, non-hereditary

cerebellar degeneration, heredibary ataxias,

arnold-Chiari malformation and Wilson‘s

Disease.

(1)Focal Lesions

Any type of focal lesion of

the central nervous system (such

as stroke, brain tumour, multiple

sclerosis) will cause the type of

ataxia corresponding to the site of

the lesion: cerebellar if in the

cerebellum, sensory if in the

dorsal spinal cord (and rarely in

the thalamus or parietal lobe), and

vestibular if in the vestibular

system (including the vestibular

areas of the cerebral cortex).

(2)Exogenous Substances

Exogenous substances that cause

ataxia mainly do so because they

have a depressant effect on

central nervous system function.

71 Pediatric conditions Hand notes

The most common example

is ethanol, which is capable of

causing reversible cerebellar and

vestibular ataxia. Other examples

include various prescription drugs

(e.g. most antiepileptic

drugs have cerebellar ataxia as a

possible adverse effect), Lithium

level over

1.5mEq/L, cannabis ingestion and

various other recreational drugs

(e.g. ketamine, PCP or dextromet

horphan, all of which are NMDA

receptor antagonists that produce

a dissociative state at high doses).

Exposure to high levels

of methylmercury, through

consumption of fish with high

mercury concentrations, is also a

known cause of ataxia and other

neurological disorders.

(3)Radiation Poisoning

Ataxia can be induced as a result

of severe acute radiation

poisoning with an absorbed dose

of more than 30 Grays.

(4)Vitamin B12 Deficiency

Vitamin B12 deficiency may

cause, among several

neurological abnormalities,

overlapping cerebellar and

sensory ataxia.

(5)Causes of isolated Sensory Ataxia

Peripheral neuropathies may

cause generalised or localised

sensory ataxia (e.g. a limb only)

depending on the extent of the

neuropathic involvement. When

they involve the dorsal columns,

spinal disorders of various types

may cause sensory ataxia from

the lesioned level below.

(6)Non-Hereditary Cerebellar

Degeneration

Cerebellar degeneration include

chronic ethanol

abuse, paraneoplastic cerebellar

degeneration, high altitude

cerebral oedema, coeliac

disease, normal pressure

hydrocephalusand cerebellitis is

caused of non-hereditary.

(7)Hereditary Ataxias

Ataxia may depend

on hereditary disorders consisting

of degeneration of the cerebellum

and/or of the spine; most cases

feature both to some extent, and

therefore present with

overlapping cerebellar and

sensory ataxia, even though one is

often more evident than the other.

Hereditary disorders causing

ataxia include autosomal

dominant ones such

as spinocerebellar ataxia, episodic

ataxia,

anddentatorubropallidoluysian

atrophy, as well as autosomal

recessive disorders such

as Friedreich's ataxia (sensory and

72 Pediatric conditions Hand notes

cerebellar, with the former

predominating) and Niemann

Pick disease, ataxia-

telangiectasia (sensory and

cerebellar, with the latter

predominating),

and abetalipoproteinaemia. An

example of X-linked ataxic

condition is the rare fragile X-

associated tremor/ataxia

syndrome.

(8)Arnold-Chiari Malformation

Arnold-Chiari malformation is a

malformation of the brain. It

consists of a downward

displacement of the cerebellar

tonsils and the medulla through

the foramen magnum, sometimes

causinghydrocephalus as a result

of obstruction of cerebrospinal

fluid outflow.

(9)Wilson’s Disease

Wilson's Disease is an autosomal-

recessive gene disorder whereby

an alteration of the ATP7B gene

results in an inability to properly

excrete copper from the

body. Copper accumulates in the

nervous system and liver and can

cause ataxia as well as

other neurological and organ

impairments.

Clinical Presentation

Symptoms vary depending on the type of

ataxia but include early problems with

unsteadiness and clumsiness, which in early

onset types usually start between the ages of

4 and 16. In late-onset types of ataxia - as

the result of alcoholism, for example -

symptoms usually begin after the age of 20.

Ataxia can develop over time or come on

suddenly, depending on the cause.

Symptoms may remain mild or worsen as

the ataxia progresses.Ataxia, may cause:

Coordination is poor

A tendency to stumble and unsteady walk

Difficulty with fine-motor tasks, such as

eating, writing or buttoning a shirt

Speech, vision and hearing may be affected

Involuntary back-and-forth eye movements

(nystagmus)

Difficulty swallowing

If you aren't aware of having a condition

that causes ataxia, such as multiple sclerosis,

see your doctor if you:

Lose balance

Muscle coordination in a hand, arm or leg is

lost

Have difficulty in walking

Speech is slur

Have difficulty swallowing

73 Pediatric conditions Hand notes

Investigation

Diagnosing ataxia can take a while

because many other conditions can cause

similar symptoms.

Blood tests, MRI scans and genetic tests

may be performed to help confirm diagnosis

when ataxia is suspected

Families affected by ataxia may be offered

blood tests to see if individuals are carriers.

Antenatal screening is also available for

some types of ataxia.

The following questions should be ask:

1. Is there vertigo, tinnitus, or

deafness?

Any one of these three signs and

symptoms should suggest Ménière's

disease or other labyrinthine disease

as well as eighth nerve pathology.

2. Are there headaches, nystagmus, or

papilledema?

These signs should suggest a

cerebellar tumor or acoustic

neuroma.

3. Are there other neurologic signs?

If there are long tract signs such as

hyperactive reflexes and loss of

vibratory or position sense, one

should consider multiple sclerosis,

pernicious anemia, or basilar artery

insufficiency. If there are glove and

stocking hypoesthesia and

hypoactive reflexes, one should

consider peripheral neuropathy or

tabes dorsalis.

4. Is the ataxia worse in the dark?

This is a sign that the dorsal column

or peripheral nerve is affected, and

one should look for peripheral

neuropathy, pernicious anemia,

multiple sclerosis, and Friedreich's

ataxia. One should also look for

tabes dorsalis.

5. Is there a secondary gain?

Hysterical patients and patients who

are malingering will often show a

completely normal neurologic

examination, but be unable to walk

or stand without staggering. The

author has been particularly

impressed with patients applying for

long-term disability who stagger a

great deal without support, but as

soon as support in the form of a cane

is given, their ataxia completely

clears up.

Diagnostic

The wise clinician should consider a

neurologic referral at the outset. An

audiogram and caloric testing should be

done if there is vertigo, tinnitus, or deafness.

Then, a CT scan or MRI of the brain should

be done if these suggest eighth nerve

damage. Headaches, sustained nystagmus,

or papilledema are other indications for a

CT scan or MRI. If multiple sclerosis is

suspected, MRI of the brain is very useful,

74 Pediatric conditions Hand notes

as well as spinal fluid for gamma globulin

and myelin basic protein. Perhaps VEP,

brain stem evoked potential (BSEP), or

SSEP studies should be done.

Magnetic resonance angiography will allow

assessment of the vertebral-basilar arteries if

vascular disease is suspected. If this is not

available, four-vessel cerebral angiography

may be utilized. Patients with hypoactive

reflexes and glove and stocking

hypoesthesia and hypalgesia will need a

neuropathy workup. Referral to a

psychologist for psychometric testing should

be done when there is ataxia in the presence

of a normal neurologic examination.

Medical Management

The medical management of

ataxia and its effectiveness

depend on the underlying cause

may limit or reduce the effects of

ataxia, but it is unlikely to

eliminate them entirely. Recovery

tends to be better in individuals

with a single focal injury (such

as stroke or a benign tumour),

compared to those who have a

neurological degenerative

condition. A review of the

management of degenerative

ataxia was published in 2009.

The movement disorders

associated with ataxia can be

managed by pharmacological

medical managements and

through physical

therapy and occupational

therapy to reduce disability. Some

drug medical managements that

have been used to control ataxia

include: 5-hydroxytryptophan (5-

HTP), idebenone, amantadine,

physostigmine, L-carnitine or

derivatives, trimethoprim–

sulfamethoxazole, vigabatrin,

phosphatidylcholine,

acetazolamide, 4-aminopyridine,

buspirone, and a combined

coenzyme Q10 and vitamin E

antioxidant therapy. For

retraining specific functional

motor patterns, physical

therapy requires a focus on

adapting activity and

facilitating motor learning. The

large components of therapy is

gait, coordination, and balance

training. Training will likely need

to be intense and focused, as

indicated by one study performed

with stroke patients experiencing

limb ataxia who underwent

intensive upper limb

training. Their therapy consisted

of constraint-induced movement

therapy which resulted in

improvements of their arm

function. Medical management

will likely include strategies to

manage difficulties with everyday

activities such as walking. Gait

aids (such as a cane or walker)

can be provided to decrease the

risk of falls associated with a

balance impairment or poor

coordination. Severe ataxia may

eventually call for the use of a

wheelchair.

A possible coexisting motor

deficit need to be addressed in

75 Pediatric conditions Hand notes

addition to those induced by

ataxia, in order to obtain better

results; for example muscle

weakness and decreased

endurance which would lead to

increasing fatigue and poorer

movement patterns.

Tics Disoder

Definition

According to Philip Barker (1971), tics,

sometime known as habit spasm, are

repetitive, sudden movement of muscles or

groups of muscles, not under voluntary

control and serving no obvious purpose.

They more often affect the muscles of the

face, and eye-blinking tics are common.

Various facial contortions may occur and

muscle groups in other parts of the body

may be affected. The head and neck may be

suddenly and briefly moved in one direction

or contorted. They may be similar

movement of trunk and limbs. The same

movements tend to occur repeatedly, in

severe cases scores or hundreds of times

daily. Tics, especially when they involve

large movements of trunk or limbs, can be

seriously handicapping.

Some with Tourette‘s syndrome will

describe a need to complete a tic in a certain

way or a certain number of times in order to

relieve the urge or decrease the sensation.

Tics are often worse with excitement or

anxiety and better during calm, focused

activities. Certain physical experiences can

trigger or worsen tics, for example tight

collars may trigger neck tics, or hearing

another person sniff or throat-clear may

trigger similar sounds. Tics do not go away

during sleep but are often significantly

diminished.

76 Pediatric conditions Hand notes

Types

Tics are divided into two that are by

complexity and by number of tics and

duration.

Tics by complexity are also divided into two

that are simple tic and complex tic.

Simple tic are sudden, short, repetitive

movements that involve a limited number of

muscle groups. Simple motor tics include

eye blinking, vision irregularity, facial

grimace, shoulder shrugging and head or

shoulder jerk. Simple vocal tics are

repetitive throat-clearing and sniffing or

grunt sounds.

Complex tic are different, coordinated

pattern of movement involve several muscle

groups. Complex motor tics include facial

grimace combined with head twist and

shoulder shrug, appear purposeful, sniffing

or touching objects, hopping, jumping,

bending or twisting. Complex vocal tics

include words or phrases.

Tics by number of tics and duration are

divided into transient tics condition and

chronic tics condition.

Transient tics condition presents less than

one year and do not happen again. The child

is benign and does not requires treatment.

Chronic tics condition present more than a

year. There is a history of a number of tics

that have been present. Chronic motor tic is

the individual has one or several motor tics

(no vocal tics) on and off for more than one

year. Chronic vocal tics has been one or

more vocal tics (no motor tics) on and off

for more than a year.

Causes

Experts do not know the exact cause of tics,

but some research points to changes in the

brain and problems with how nerve cells

communicate. Research is ongoing and it is

believed that an abnormal metabolism of the

neurotransmitters dopamine and serotonin ,

the chemicals in the brain that carry nerve

signals from cell to cell are involved with

the disorder. It is genetically transmitted

with parents having a 50% chance of

passing the gene on to their children. Girls

with the gene have a 70% chance of

displaying symptoms while boys with the

gene have a 99% chance of displaying

symptoms.

Clinical Presentation

Both multiple motor and one or more

vocal tics have been present at some

time during the illness.

The tics occur many times a day,

nearly every day, or occasionally

throughout a period of more than 1

year

The anatomic location, number,

frequency, complexity, type, or

severity of tics changes over time

Tics have their onset (vigorous

beginning) before age 21 years

People with Tourette‘s Syndrome are

more likely to have any combination

of the following problems:

77 Pediatric conditions Hand notes

Attention-Deficit/Hyperactivity

Disorder (ADHD)

Difficulties with Impulse Control

Obsessive-Compulsive Disorder

(OCD)-obsession thought (describe

unwanted disturbing or often

nonsensical worries)

Various Learning Disabilities (such

as dyslexia)

Various Sleep Disorders

Investigation

A screening neurologic examination should

be conducted that includes assessment of

coordination, motor overflow, strength,

reflexes, tone, balance, and untoward motor

movement. A mental status examination

should focus on mood, affect, language,

intelligence, cognitive processes, thought

content, attention, orientation, insight, and

judgment.

Tics do not warrant to routine serum

screening, neuroimaging, or electrical

studies unless secondary tics or differential

concerns are raised by history or

examination.

To be diagnosed with Tourette‘s syndrome,

observe that a person must have several

different types of tics that are specifically,

multiple motor tics and at least one vocal tic.

Begin by asking the parents:

How long the child has had the tic?

How often he experiences it?

Can they identify any precipitating

or pain factors?

Can the patient control the tics with

conscious effort?

Does the child have any stress in his

life such as difficult school work?

Next, carefully observe the tic. Is it a

purposeful or involuntary

movement? Note whether it‘s

localized or generalized, and

describe it in detail.

Medical Management

In managing these children, a

supportive attitude from the parent

and the community are important to

relief of any stress the child may be

experiencing. Any apparent causes

of anxiety should be removed and

co-existing psychiatric problems

should receive the appropriate

treatment.

Although many treatments have been

suggested for tics disorders including

individual psychotherapy and

behavior therapy, treatment with

certain drugs seems to be most

effective. The mainstays of drug

therapy have been the antipsychotic

drugs haloperidol and pimozide.

Clonidine, a drug primarily used to

control hyperextension, is sometimes

effective in controlling tics, though

usually less so than haloperidol and

pimozide. These drugs are only use

to manage tics and cannot cure tics.

Occupational therapy referral is

helpful if the child has prominent

78 Pediatric conditions Hand notes

handwriting deficits, sensory

defensiveness, or late gross motor

development.

Conclusion

A comprehensive physical examination

should be part of the evaluation of tics,

especially in young children with

communication difficulties. More

controlled, independent studies are needed

to establish the treatment of children with

ADHD and comorbid tic disorder or

Tournette‘s Syndrome. A review of the

literature on tic classification and the

available instruments to rate tic severity

suggests the need for developing a better

classification profile and more adequate

rating instruments.

Children with tic disorders present clinical

challenges that require a combined approach

of patient and family education, behavioral

therapies, and medical intervention.

Successful outcomes depend on attention to

associate and set realistic goals for the

family and clinician. These disorders

obviously bridge neurology and the

behavioral sciences, discouragement the

artificial split of brain and mind while

encouraging an integrated conceptualization

and treatment approach.

References:

1) Keith Cheng and Kathleen M.

Myers, Child and Adolescent

Psychiatry The Essential : 9 (151-

168)

2) Michael Rutter and Eric Taylor,

Child and Adolescent Psychiatry

Fourth Edition: 36 (593-606)

3) Philip Borker, Basic Child

Psychiatry Sixth Edition : 15 (187-

190)

4) http://emedicine.medscape.com/articl

e/1182258-clinical

5) http://tourette13.tripod.com/

6) http://www.ninds.nih.gov/disorders/t

ourette/detail_tourette.htm

7) http://www.cnsspectrums.com/aspx/a

rticledetail.aspx?articleid=1725

8) http://www.wrongdiagnosis.com/t/tic

s/book-diseases-

8c.htm?ktrack=kcplink

79 Pediatric conditions Hand notes

Corticobasal degeneration

Introduction

In 1968, Rebeiz and his associates

was the first identified Corticobasal

Degeneration (CBD)

Three individuals who shows

different characteristic symptomps

and unknown disorder being

observed by them.

Corticobasal degeneration(CBD)

refered to the neurodegenerative

disease and known as few names :

Corticobasal degeneration with

neuronal achromasia

Corticonigral degeneration with

nuclear achromasia

Corticobasal ganglionic degeneration

(CBGD)

Corticobasal degeneration (CBD)

cause damage to the basal ganglia.

Corticobasal degeneration (CBD)

also related to the movement

disorder disease.

Although the specific cause of

corticobasal degeneration (CBD) is

unknown, the damage of basal

ganglia part occurs as a result of this

disease.

Neuronal degeneration of

dipigmentation (loss of melanin in a

neuron)

In subtantia nigra.

Definition

Corticobasal degeneration (CBD) is

a rare neurological disorder that

associated with progressive brain

degeneration.

Corticobasal degeneration (CBD)

also known as corticobasal

ganglionic degeneration (CBGD)‘.

Corticobasal degeneration leads to

loss of brain tissue and atrophy

(shrinkage) of multiple areas of the

brain including the cerebral cortex

and basal ganglia.

Especially the area in the upper and

front section of the brain.

80 Pediatric conditions Hand notes

Types

Predominant movement disorders

and cortical dysfunctions associated

with corticobasal degeneration

(CBD) may include :

Parkinsonism

Alien hand syndrome

Apraxia ( Ideomotor

Apraxia and Link

Apraxia)

Aphasia

PARKINSONISM!!!

► complications in development.

► parkinsonism in cbd most present in

an extremity such as arm and it always

asymmetric.

► commonly involve movement

dysfunction which are gait disorder, rigidity,

bradykinesia.

► most typical manifestation of

parkinsonism in cbd is limb rigidity.

► leads to disruptions in gait and related

movements.

ALIEN HAND SYNDROME!!!

► An individual cannot able to control

the movements of his or her hand because of

the sensation that the limb is ―foreign‖.

► Movement of the alien limb reacts to

yhe external stimuli and do not occur

sporadically or without stimulation.

APRAXIA / IDEOMOTOR APRAXIA

(IMA)!!!

► Inability to repeat or mimic particular

movements with or without implementation

of objects.

► Can be presented in hands and arms.

► Cause difficulties and trumbling in

maintaining balances.

APHASIA!!!

► As the disease progress, the individual

loss the ability to speak.

► Facing difficulties in initiating

spoken dialogue and also falls under the

non- fluent (as opposed to fluent or flowing)

disorder.

Causes

Related causes of Corticobasal degeneration

(CBD) included :

Subarachnoid hemorrhage Bleeding in the subarachnoid area of

the brain because of the rupture of a

blood vessel

Area : space between brain and the

skull.

Subdural hematonia

81 Pediatric conditions Hand notes

Collection of blood underneath the

duro mater, the tough outer layer of

the meninges, the membrane that

surround the brain and also spinal

cord

Introcerebral hematoma

Electrolyte abnormalities

Diabetic cana Unconsciousness, state as a

complication of diabetes mellitus

Hepatic encephalopathy

Cause by marked liver disease that

results in disruptions of consciousness.

Renal failure A condition of life- threatening in

which there is a build up of waste

and fluid in the body due to sever

deferloration of kidney failure.

Cerebral metastases The spread of a neoplasm from a

primary site to the brain

Hypoxic encephalopathy

Complication

There are several complications associated

with corticobasal degeneration (CBD)

disease:

Chronic brain failure

Myoclonus

Parkinsonism

Prevalence

Only 500-700 are diagnosed from suffer

corticobasal degeneration (CBD) disease

from 2000-3000 people.

Clinical Presentation

A set of standard diagnostic criteria

can be used which is centered on the

desease‘s development because

corticobasal degeneration (CBD) is

progressive.

Psychiatric and cognitive

dysfunctions although occur in

corticobasal degeneration (CBD) ,

but they are less prevalent and

slightly lack establishment as

common criteria of the presence of

the disease.

Sign and symptoms

Gradual loss of brain tissue and

symptoms usually begin between ages early

45 and 70

The initial symptoms includes :

Stiffness

Jerkiness

Shakiness

Slowness

Clumsiness in movement

(upper / lower extremity)

Difficulty with articulation /

calculation (dysarthria)

Symptoms occurring on one

side of the body first then

gradually moving to the other

side.

Other symptoms include :

Balance → difficulty in

walking and balancing

Memory → having problems

in short-terms memory such

as repeating questions or

misplacing objects.

82 Pediatric conditions Hand notes

Muscle control → difficult to

control muscles of the face

and mouth.

Speech → difficult in order

to speaking and difficulty of

comprehension language.

Individuals with having corticobasal

degeneration(CBD) disease may having

difficulties in completing several specific

task :

Opening a door

Brushing one‘s teeth

Using tools such as

can opener

Example :

A patient may have

difficulties with complex

movements like dancing

when a leg is affected. As

the disease continues

progresses, the patient

may started to trip and

fall. Besides, he/ she may

experience uncontrollable

movement of arm or leg.

Investigation

A comprehensive neurological exam

involves combination of one or more types

of laboratoty evaluations :

COMPUTERIZED TOMOGRAPHY (CT

SCAN)

#uses a series of x-rays to create a

details three- dimensional image of

brain.

# detect abnormalities / changes in

the brain.

Magnetic Resonance Imaging (MRI)

- uses powerful radio waves and

magnets to create a details three-

dimensional image of brain.

- to detect abnormalities/ changes

in the brain

Mental status and neuropsychological test

- some questions will be ask such as

emotional state and daily routines

and conduct tests to measure

thinking skills (cognitive skills)

- psychiatric assessment to test

behavior changes of patients,

depression or other mental illness

that occur.

Position emission tomography

- doctors will injects the patients with

a small amount of radioactive

material

- emission defectors been placed on

the patients brain..

- PET provides visual images of the

brain act.

- SPECT measures the following of

blood to various regions of the brain

Medical Management – Treatments

Corticobasal degeneration can‘t be cured

and being slow down, but doctors can help

manage the patients conditions.

Individual that having symptoms are

provided with specific therapy or

medications.

83 Pediatric conditions Hand notes

Example:

> The treatment for Parkinson‘s

Disease may partially respond to the

rigidity and difficulty in walking.

The treatment are :

Muscle relaxants or anti-

seizure medication -for muscle contractions and

twitching

Depressions or treatments

for Alzheimer’s disease -suitable for individual that

have memory and behaviour

problems

Surgical

Medications

> levodopa

# medications that usually

used to treat Parkinson‘s

disease.

# It usually less effective for

people with CBD, but for

certain people, it may provide

moderate, short-term

improvement in muscle

rigidity and stiffness.

# Increase the levels of

brain chemical called

dopamine by transmitting

messages from brain (control

and coordinate body‘s

movement).

# Then, dopamine levels

increase and causes a

corresponding improvement

in muscle tone.

Common side effects of levodofa :

- Nausea

- indigestion

- involuntary, physical movements,

such as jerking

- mood changes- for example,feeling

more anxious

- drowsiness

Baclofen

Can be used to treat muscle rigidity and

stiffness. Blocking some of the nerve signals

that cause muscle stiffness.

Side effects of baclofen :

- dizziness

- drowsiness

- constipation

- diarrhoea

- headache

- an increased need to urinate

Colazepam

can be used to treat symptoms of muscle

spams

Side effect of clonazepam :

- Fatigue

- muscles weakness

- loss of co-ordination

- light- headedness

Conclusion

As the conclusion, Corticobasal

degeneration (CBD) or Corticobasal

Ganglion Degeneration (CBGD) is one type

of disease that commonly associated with

the movement disorder and also cognitive

disorder. This disease can be considered as

the most seriously disease as it cannot be

ascertained be cured.CBD is a progressive

condition,that means the initial symptoms

will become more severe over time and that

new symptoms may develop. Symptoms

84 Pediatric conditions Hand notes

progress can vary widely between

individuals, but after the onset of the

symptoms,people typically live for around

eight years. People who suffer from this

problem are very vulnerable for developing

other complications such as pneumonia,

which can lead to fatal.Even research into

treatments for CBD is ongoing,but yet there

still no current treatment. Hence, treatment

for CBD just focused on relieving the

symptoms, and ensuring the person with the

condition by the best possible quality of this

meaningful life.

References

Internets :

http://en.wikipedia.org/wiki/Corticob

asal_degeneration

http://www.nhs.uk/Conditions/Cortic

obasal-

degeneration/Pages/Treatment.aspx

http://www.mayoclinic.org/corticoba

sal-degeneration/

http://www.ninds.nih.gov/disorders/c

orticobasal_degeneration/corticobasa

l_degeneration.htm

Reference book:

William W. HAY, JR, Professor,

Department of Pediatrics – Current

Diagnosis and Treatment in

Pediatrics, eighteen edition

85 Pediatric conditions Hand notes

Dyskinesis

Definition

Dyskinesis is synonym to dyskinesia.

Dyskinesia is a movement disorder which

consists of effects including diminished

voluntary movements and the presence of

involuntary movements, similar to tics or

choreia.

Dyskinesia can be anything from a

slight tremor of the hands to

uncontrollable movement of, most

commonly, the upper body but can

also be seen in lower extremities.

Discoordiation can also occur

internally especially with the

respiratory muscles and it often goes

unrecognised.

Dyskinesia is a symptom of several

medical disorders and is

distinguished by the underlying

cause.

Medical Management

Some authors suggest that the precipitating

factor preceding episodes of paroxysmal

dyskinesia is the most significant component

in determining the course of the disease, the

underlying disease mechanism (see

"Pathophysiology"), and response to

treatment. The duration of episodes also

appears to have some effect on the disease

course and treatment response.

Paroxysmal kinesigenic dyskinesia

(PKD):-

-In many patients with idiopathic

paroxysmal kinesigenic dyskinesia

(PKD), episodes tend to lessen with

age. In addition, the attacks may

sometimes spontaneously disappear

over time (remission). PKD responds

well to therapy with various

anticonvulsant medications.

-For example, the anticonvulsant

agent phenytoin (Dilantin), formerly

known as diphenylhydantoin, was

one of the first medications

recognized as an effective therapy

for PKD. Reports indicate that

patients may also benefit from

treatment with the anticonvulsants

phenobarbital, primidone

(Mysoline), valproic acid

(Depakene), or the benzodiazepine

clonazepam (Klonopin®).

-In addition, carbamazepine

(Tegretol), another anticonvulsant

agent, has been found particularly

effective in most PKD patients.

Some patients may also benefit from

acetazolamide, which is a carbonic

anhydrase inhibitor; combination

therapy with acetazolamide and

carbamazepine; or treatment with

tetrabenazine (Nitoman, Xenazine), a

monoamine-depleting agent.

Although therapy with the dopamine

precursor levodopa (L-dopa) has

been effective for some PKD

patients, others have not received

benefit from such therapy.

Paroxysmal non-kinesigenic dyskinesia

(PNKD):-

The non-kinesigenic episodes of

idiopathic PNKD may also decrease

in frequency and intensity over time

in some patients. Unlike PKD,

PNKD usually does not respond to

anticonvulsant therapy. Yet, in some

cases, patients may benefit from

treatment with certain

anticonvulsants, such as clonazepam,

86 Pediatric conditions Hand notes

valproic acid or phenobarbital.

Indeed, clonazepam (Klonopin®) is

often considered the medication of

choice for PNKD. Benzodiazepines,

a class of medications that act on the

central nervous system, may be

helpful in relaxing muscles, relieving

anxiety, or promoting sleep.

Other benzodiazepines also may

have some effectiveness in PNKD,

such as oxazepam (Serax®) or

diazepam (Valium®). Other agents

occasionally found effective for

some patients include benztropin

(Cogentin®), possibly in

combination with phenytoin;

acetazolamide; carbamazepine;

chlordiazepoxide; trihexyphenidyl;

dopamine depleting drugs (e.g.,

tetrabenazine) or dopamine receptor

antagonists (e.g., haloperidol).

However, it is important to note that

some patients report an exacerbation

of symptoms when treated with

antidopaminergic drugs.

In addition, whereas therapy with the

dopamine precursor L-dopa has been

reported to aggravate symptoms,

some patients have received

moderate benefit from such

treatment. Some researchers suggest

that patients with long-lasting PNKD

episodes may tend to have an

increased response to medication

than those with short-lasting attacks.

In addition, in some patients with

symptomatic PNKD, administration

of appropriate therapies to manage

an underlying condition, such as

certain endocrine disorders (e.g.,

diabetes or idiopathic

hypoparathyroidism), may alleviate

non-kinesigenic episodes.

Paroxysmal exertion-induced

dyskinesia (PED)

-In some patients with familial PED,

the attacks spontaneously remit;

others may improve with certain

benzodiazepines, such as

clonazepam and the anticonvulsant

agent carbamazepine.

-Most patients, however, obtain no

benefit from treatment with

clonazepam, anticonvulsants, or

other attempted therapies (e.g.,

levodopa, trihexyphenidyl,

barbiturates).

-Most patients with short-lasting

PHD episodes benefit from

carbamazepine. In some cases, other

anticonvulsants may also be

effective, such as phenytoin

(Dilantin®) or combination therapy

with phenytoin and phenobarbital.

o -In contrast, according to

reports in the medical

literature, those patients with

long-lasting nocturnal attacks

did not respond to

anticonvulsant therapy, nor

were administration of

benzodiazepines or certain

antipsychotic agents

(phenothiazines) effective.

o -However, a patient with

long-lasting PHD secondary

to head trauma had an

effective response to therapy

with the carbonic anhydrase

inhibitor acetazolamide.

o In addition to medical

therapy, surgical

interventions such as chronic

thalamic stimulation, are

being explored as potential

therapies in patients with

medically intractable

paroxysmal dyskinesias

87 Pediatric conditions Hand notes

Types

Paroxysmal kinesigenic Dyskinesia

more appropriate since the episodes

are often not witnessed and therefore

the movement disorder cannot be

classified into choreic, athetotic,

ballistic, or dystonic. In many patients

with PKD,

Paroxysmal kinesigenic dyskinesia or

(PKD) is on of the type in dyskinesis.

PKD is sudden attacks of involuntary

movements, including dystonia,

chorea, athetosis, or ballism

precipitated by sudden movement

[kertesz,1967]. The characteristic of

this type of dyskinesia is, the

symptom most commonly occurs

when a patient stand up quickly or

startle. For example the ‗ringing bell‘.

Hyperventilation or prolonged

physical exercise may also trigger the

attact. Many patient experience an

‗aura‘ like sensation.

Symptom usually manifested

unilaterally, but may alternate or even

be bilateral.

Limbs are more commonly involved

,but neck, face, and trunk may also

affected.

Males are more commonly affected

than females with ratio of 3.75:1

[farh,1994)

Mostly, PKDs are idiopathic, and in

the majority, there is a family history

of autosomal dominant inheritance

with penetrance > 70%. Sporadic

cases are reported frequently

[Jankovic and Demirkiran, 2002].

Paroxysmal Nonkinesigenic Dyskinesia

(PNKD)

Paroxysmal Nonkinesigenic

Dyskinesia (PNKD) is an episodic

movement disorder first described

by Mount and Reback in 1940 under

the name "Familial paroxysmal

choreoathetosis".

It is a rare hereditary disease that is

affects various muscular and nervous

systems in the body, passing to

roughly 50% of the offspring.

Paroxysmal exercise-induced

dystonia (PED)

Paroxysmal exercise-induced

dystonia (PED) is another one types

of dyskinesis. It is a rare, typically

idiopathic familial condition,

although sporadic and secondary

cases have been reported.

It is because the number of reported

cases that have been reported by

people with PED is very small

leading to difficulty in studying and

classifying this disease and most

studies are limited to a very small

number of test subjects.

Paroxysmal exercise-induced

dystonia or PED is a rare

neurological disorder characterized

by sudden, transient, involuntary

movements, often including repetitive

twisting motions and painful

posturing triggered by exercise or

other physical exertion.

biliary dyskinesia

derangement of the filling and

emptying mechanism of the

gallbladder.

dyskinesia intermit´tens

intermittent disability of the limbs

due to impaired circulation.

tardive dyskinesia

- an iatrogenic disorder of involuntary

88 Pediatric conditions Hand notes

repetitive movements of facial,

buccal, oral, and cervical muscles,

induced by long-term use of

antipsychotic agents, sometimes

persisting after withdrawal of the

agent.

- tardive dyskinesia is serious side

effect of long-term use of drugs

called neuroleptics. The most

commonly used neuroleptics are older

anti-psychotic drugs, including

Investigation

A diagnosis of paroxysmal kinesigenic, non-

kinesigenic, exertion-induced, or

hypnogenic dyskinesia is based upon a

thorough clinical evaluation including;-

a complete physical and neurologic

assessment

evaluation of characteristic

symptoms with assessment of

episode duration

frequency

"trigger factors" or precipitants

a careful patient and family history.

There is no definitive diagnostic test for

these disorders. Certain blood tests, other

laboratory studies, or neuroimaging or

neurophysiologic studies may be conducted

to eliminate similar disorders and to confirm

or rule out underlying conditions that may

result in secondary (symptomatic)

paroxysmal dyskinesia. Such neuroimaging

or neurophysiologic studies may include

computerized tomography (CT) scanning or

magnetic resonance imaging (MRI) to create

detailed, cross-sectional images of certain

bodily tissues and organs;

electroencephalography (EEG) to detect or

rule out potential seizure activity; or other

techniques, such as specialized sleep studies

(e.g., polysomnograms) in those with

suspected paroxysmal hypnogenic

dyskinesia to help evaluate the occurrence of

nocturnal episodes of involuntary

movement. However, experts indicate that

neuroimaging studies (e.g., CT or MRI)

typically are not helpful in those with

idiopathic (familial or sporadic) paroxysmal

dyskinesia.

The differential diagnosis of idiopathic

paroxysmal kinesigenic dyskinesia (PKD)

includes repeated seizures or epilepsy and

hyperexplexia, also known as startle disease.

Patients with hyperexplexia have an

exaggerated startle response to unexpected

stimuli. These heightened responses may

cause stiffening and falling without loss of

consciousness. Tetany, associated with

hypocalcemia; may rarely mimic

paroxysmal dyskinesias. It is characterized

by muscular twitching and cramping;

spasms at the wrist and ankle joints;

spasmodic closure of the larynx, with an

associated, high-pitched sound upon

inhalation (stridor), and abnormal

involuntary movements resembling chorea.

The diagnosis of idiopathic, particularly

sporadic, paroxysmal non-kinesigenic

dyskinesia (PNKD) may include measures

to help differentiate the condition from

movement disorders in which symptoms

have an emotional rather than an organic

origin (psychogenic disease).

The differential diagnosis of paroxysmal

hypnogenic dyskinesia should also include

various forms of epilepsy. However, EEG

findings may provide evidence of seizure

activity arising from a specific region of the

cerebral cortex.

89 Pediatric conditions Hand notes

Causes

Tardive dyskinesia

Tardive dyskinesia occurs primarily as a

rare, but serious, side effect of neuroleptic

drugs. This drugs are prescribed for the

treatment of psychiatric, gastrointestinal and

neurological disorders. Tardive dyskinesia

usually occurs after months to years of

neuroleptic drug use, but in some cases, it

may begin after only six weeks of use.

Medications known to cause tardive

dyskinesia;-

Chlorpromazine (Thorazine)

Fluphenazine (Prolixin)

Haloperidol (Haldol)

Metoclopramide (Metozolv, Reglan)

Prochlorperazine (Compazine)

Trifluoperazine (Stelazine)

The risk factors for tardive dyskinesia:-

A number of factors increase the risk of

developing tardive dyskinesia. Not all

people with risk factors will get tardive

dyskinesia. Risk factors of tardive

dyskinesia is include:

Advanced age

Female gender

Substance abuse

Use of neuroleptic drugs

Clinical Presentation

Symptom of dyskinesia

Tardive Dystonia

Tardive dystonia is a movement disorder

characterized by muscle contractions and

spasms that cause irregular and

uncomfortable movements and postures.

Tardive dystonia symptoms may vary

among patients and range in intensity

depending upon the severity of the

condition.

The common symptoms of tardive

dystonia;-

Very often, tardive dystonia involves the

muscles of the face, but the movements

caused by the disorder may be more

generalized and include other parts of the

body as well. Symptoms of the disorder are

often characterized according to where they

occur in the body. Common symptoms

include:

Spasmodic torticollis – This

symptom occurs when the muscles

of the neck contract and pull the

head down, causing an abnormal and

uncomfortable posture. This is often

the most painful type of tardive

dystonia movement.

Blepharospasm – This symptom

affects the muscles that control

eyelid contractions and is

characterized by movements that

appear as prolonged blinking.

Blepharospasm can result in vision

problems and the inability to perform

many everyday tasks, including

reading or driving.

Diurnal bruxism – This symptom

results in rhythmic, forceful

contractions of the jaw muscles and

causes teeth grinding while awake

(but not while sleeping). Diurnal

bruxism can result in severe pain and

significant tooth damage.

Dysphonia – Dysphonia affects the

muscles involved in breathing and

speaking. Patients experiencing

dysphonia often speak with a

strangled and raspy voice and can

sound as if they are out of breath.

90 Pediatric conditions Hand notes

Ballismus – Ballismus causes the

arms or legs to involuntarily jut out

from the body. Some individuals

with this form of dystonia note that

their movements are sometimes

mistaken for aggression.

Diagnosis

Symptoms of tardive dystonia can appear

gradually, so it may not be immediately

apparent that victims are dealing with a

serious movement disorder. This, along with

other factors, often makes it difficult to

diagnose tardive dystonia and related

movement disorders.

There is no one test that can determine if a

patient has the disorder; instead, doctors

must carefully watch the movements at

various intervals to determine whether or not

they are involuntary and whether they

worsen or improve over time.

Individuals who suspect they have tardive

dystonia should keep a diary of their

symptoms, noting the location and severity

of the movements, as well as how often they

occur.

Tardive Dyskinesia Symptoms

There has been little research on the

movement disorder known as tardive

dyskinesia (TD), which affects

approximately 20 percent of patients who

have been treated for certain psychoses with

medications known as dopamine

antagonists. The symptoms of tardive

dyskinesia are a side effect of medications

that are targeted at the specific dopamine

receptor involved in emotion and lower

cognitive function. These medications,

including metoclopramide (commonly

known as Reglan, Deglan and Maxolon to

name a few), wind up affecting the function

of voluntary muscle control.

Diagnosing Tardive Dyskinesia

Part of the difficulty in diagnosing

tardive dyskinesia lies in the fact that

symptoms are similar to other types

of disorders, including Tourette's

syndrome. One variety of tardive

dyskinesia, known as tardive

tourettism, is so similar that only

careful study of the circumstances

surrounding the onset of the disorder

can determine which condition is

actually present.

Other similar disorders include

tardive dystonia, akathisia and

myoclonus. The first differs from

other types of dystonia (muscle

spasms and uncontrollable

movements in the torso) in that the

tardive variety is permanent and is

drug-related as opposed to being

caused by genetics, injury, infection

or environmental toxins.

Akathisia is more internalized and

accompanied by inner anxiety. It is

also more generalized, involving the

entire body. Myoclonus manifests

itself most often as brief, jerky

contractions of a particular muscle

group. However, the term actually

refers to a symptom that may be the

result of any number of neurological

disorders. In most cases, a

differential diagnosis is required in

order to determine what strain of

tardive dyskinesia is present.

Characteristic Symptoms

Regardless of the variety of the disease,

tardive dyskinesia is characterized by

sudden, uncontrollable movements of

voluntary muscle groups. Signs of classic

tardive dyskinesia normally consist;-

91 Pediatric conditions Hand notes

Coordinated- experience movement

in the limbs and digits. Interestingly,

these involuntary movements are

more pronounced when the patient

attempts to relax.

constant movements of the mouth

Tongue- suddenly move about in a

squirming, twisting manner. In

extreme cases, the tongue may move

well over 60 times a minute.

jaw and cheeks- patient will move

ther jaw up and down, for example

as if chewing.

Repeated lip smacking and puffing

of the cheeks may also be present.

Severity of the condition is indicated

by the frequency of these movements

or spasms. Any emotional arousal or

agitation tends to cause these

movements to decrease. Symptoms

may disappear completely when the

patient is asleep.

Tardive Dyskinesia Risk Factors &

Treatments

There is no cure for tardive dyskinesia

although the condition can be managed in

some cases. Those who are at an increased

risk for developing tardive dyskinesia are

those who have been treated with dopamine

antagonists for four years or longer;

according to a study from the Yale

University School of Medicine. Risk factors

can also be aggravated by the use of alcohol

and tobacco. Post menopausal women are

also at greater risk because of lower

estrogen levels.

References

Sources:

National Institute of Neurological

Disorders and Stroke,

http://www.ninds.nih.gov/disorders/d

ystonias/dystonias.htm

http://www.wikipedia.com

http://www.medplus.com

http://www.wemove.com

92 Pediatric conditions Hand notes

Dystonia

Introduction

There is surgical therapy which was

first used for the treatment of dystonia. It is

used over 300 years ago when Isaac minnius

find out problem at one of the neck muscles

in a patient with cervical dystonia in 1641.

At that time, there was problem of

identifying the part of the brain that was

affected. The surgical therapy is being

practice to the patient and the report was

unfortunately mixed with some surgical

centers reporting great successes while

others reported makes failures, with mixed

result often occurring even within the same

center. Advances in medical technology

have helped to create the appropriate therapy

with the syndrome of this problem.

Result from this medical technology

by increasing the improvement of the

consistency of the treatment. The result lead

to the development of brain pacemaker

technology called deep brain stimulation or

DBS.

Definition:

Dystonia syndrome is a movement

disorder that causes the muscles to

involuntarily contract, jerk or spasm.

These involuntary muscle contractions may

also result in forced repetitive and twisting

movements or awkward, unnatural postures

(Elizabeth Quinn, 2009). These muscle

contraction also occur because of the

abnormalities functioning of the brain. It can

be experienced by children and adults. In

this topics, we are discussing about dystonia

syndrome in children.

Type, clinical presentation and medical

management of dystonia syndrome

As we know, dystonia is the sustained

of muscle contraction which cause the

twisting or repetitive movement. Two most

important type of dystonia are primary

(idiopathic) and secondary dystonia.

Primary Dystonia

The most important types of primary

dystonia in children are dopa-responsive

dystonia (DRD) and idiopathic torsion

dystonia (generalized dystonia) related with

the DYT1 mutation. Other type of primary

dystonia is, myoclonus dystonia.

Causes

Genetic mutation or

Unknown

The factor related to the primary

dystonia is either there is a specific genetic

mutation combined with environmental

conditions or is unknown. Primary dystonia

is suspected to be caused by a pathology of

the central nervous system which come from

those part of the brain concerned with motor

function, such as basal ganglia, and the

GABA (gamma-aminobutvric acid )

producing purkinje neurons. In other word,

the main cause of primary dystonia is

unknown.

Generalised dystonia

93 Pediatric conditions Hand notes

Usually begin around the time when the

child reaches puberty. The symptoms

usually begins in one of the limbs before

spreading to other parts of the body. The

symptoms include muscle spasms, the limbs

or torso can take on an abnormal, twisted

postures, a foot, legs or arm can turn

inwards, and body parts can jerk rapidly.

1) Dopa-responsive dystonia (DRD)

Dopa-responsive dystonia (DRD) is

also known as hereditary progressive

dystonia with diurnal fluctuations or Segawa

Syndrome. It is a type of generalized

dystonia (affect any part of the body). DRD

can be misdiagnosed as cerebral palsy. DRD

usually present between 1 to 12 year old

child with foot dystonia which affect their

movement especially the way their walk.

Causes

Low doses of levodopa

Clinical presentation

Suffer with their gait.

The sole of the foot may bend

upwards

The foot may turn outwards at the

ankle

Might also have muscle stiffness and

spasm in their arms and torso.

Medical management

Carbidopa/ levodopa is the mainstay

of treatment in DRD. Levodopa is

psychoactive drug which contain in certain

kind of food,herb and dietary supplement.

Levodopa is used to increase dopamine

concentrations.

Focal late-onset dystonia(only affect one

body part)

2) Cervical dystonia

This type of dystonia is also called

torticollis. It affects the muscles in the neck.

The contraction and spasms in neck muscles

are the effect of cervical dystonia.

Clinical presentation

Head and neck twisting

The head and neck being pulled

forward

The head and neck being pulled

backwards

The head and neck being pulled from

side to side.

These symptoms can range from mild

to severe. The symptoms of muscle spasms

and contractions can lead to the additional

symptoms of neck pain and stiffness.

Medical management

All the symptoms states can be

relieved by touching the chin, neck or back

of the neck. The reasons for this action is

unknown.

3) Blepharospasm

This syndrome affect the muscles

around the eye.

Clinical presentation

Eye irritation

Sensitivity to light (photophobia)

Uncontrollable blinking

Uncontrollable closing of the eye.

There can be various symptom

during the day and maybe there are few or

no symptoms when wake up in the morning

but the symptoms get worse when the

person get tired or under stress.

94 Pediatric conditions Hand notes

Medical management

A toxin injection called botulinum can

help for the treatment of the facial spasm.

The example of facial spasm is the eye. So

this method can be used to treat

blepharospasm.

4) Hemifacial spasm

Clinical presentation

Hemifacial spasm causes muscle on

one side of the face to spasm

The spasm become more prominent

and troublesome when the person

with this syndrome is under stress

and tired.

Medical management

The treatment is just the same as

treatment for the blepharospasm. This is

because it affects the facial. So botulinum

can be injected to the patient with hemifacial

spasm.

5) Laryngeal dystonia

Laryngeal dystonia causes the

muscles of the larynx (voice box) ) to spasm

depending on whether the muscles of the

larynx are spasming outwards or inwards.

Clinical presentation

The voice change whether

‗strangled‘ quality or a very

quiet, ‗breathy‘ quality

Medical management

There has been no satisfactory

treatment for this type of dystonia. Speech

therapy, psychotherapy, and

pharmacotherapy can also been used.

Furthermore, injection of botulinum toxin

can be used for this treatment. All patients

received bilateral thyroarytenoid injections.

6) Oromandibular dystonia

Oromandibular is a type of dystonia that

affects the muscles in the mouth and jaws.

This cause the mouth to pull outwards and

upwards.

Clinical presentation

Usually the symptoms will occur when

the person use their mouth such as talking

and eating. The person with this type of

dystonia might also have difficulties in

swallowing (dysphagia).

Medical management

The treatment will begin with the use

of medications and Botox injections.

Dental appliances can also been used

= (They are used for tooth grinding

to reduce the symptoms).

Segmental late-onset dystonia

7) Myoclonus dystonia

Myoclonus dystonia is a rare type of

dystonia that affects the muscles in the arms,

neck and torso (upper part of the body

excluding the head and limbs).

Clinical presentation

It causes sudden ‗jerk-like‘ spasms

which feel like experiencing an

electric shock.

Medical management

Benzodiazepines (particularly

clonazepam) used to treat myoclonus

95 Pediatric conditions Hand notes

dystonia improve both myoclonus and

tremor. Anti-epileptic drugs, including

valproate and topiramate, may also improve

myoclonus

Secondary dystonia (acquired dystonia)

Secondary dystonia are those

disorder in which the dystonia is due to

another particular cause. Usually it involve

the brain damage, or by some identified

cause such as chemical imbalance.

Causes

Brought on after trauma

Induced by certain drugs

Result of diseases of the nervous

system

Clinical presentation

Depression

Lack of concentration

Poor memory function

Incontinence Constipation

Dizziness

Trouble sleeping

Difficulty reading

Investigation

There are no specific diagnosis to

dystonia but there are some way that can be

used as the investigation. Firstly, the doctor

must be familiar with dystonia`s symptom

and they must be able to identify the

physical signs. The most important thing is,

the history of the patient must be clear for

the doctor`s record. Usually, the doctor in

charge in the investigation of dystonia

syndrome is the movement disorder

neurologist.

The investigation should include :

Patient history

Family history

Laboratory studies such as blood and

urine tests,and analysis of

cerebrospinal fluid= (to reveal the

presence of toxins )

Electrical recording techniques, such

as electromyography (EMG) or

electroencephalography (EEG) = (to

provide a definitive diagnosis)

Genetic testing for specific forms of

dystonia

Other tests and screening intended to

rule out other conditions or disorders

Medical management

The purpose of the medical

management is to help lessen the symptoms

of muscle spasm, pain and awkward

postures. The various type of medical

management are specific for the specific

type of dystonia. The medical management

include:

Oral medication

Mainstay of treatment

No single drug helps to decrease

number of individuals.

Include levodopa, trihexyphenidyl,

clonazepam, and baclofen

Botulinum toxin injection

Treat some part of the body such as

neck, jaw, hands or foot.

Servical surgery can be done if there

is no respond after the injection

Ablative surgeries

Pallidotomy and thalatomy

Intrathecal baclofen

Deep brain stimulation

96 Pediatric conditions Hand notes

Therapy

Physical therapy

Aquatic therapy

Regular relaxation practices

Prognosis

Dystonia`s patient who undergo

treatment results positively in their lifestyle.

Most of them had become educated, remain

independent and active, work, date and

marry, and enjoy children and family. Most

cases of primary dystonia will usually

stabilize within five years of onset.

Diagnosis and treatment can often minimize

the impact of clinical presentation and

improve or maintain a person`s ability to

function in everyday activities.

References

Books

1. Harvey S.Singer, Eric H. Kossoff,

Adam L. Hartman , Thomas

O.Crawford. Treatment of pediatrics

neurologic disorder. 2005: 139-144

Internet

2. http://www.dystonia-

foundation.org/pages/articles/221.ph

p?id=14

3. http://www.dystonia-

foundation.org/pages/more_info___s

econdary_dystonias/74.php

4. http://www.mayoclinic.com/health/d

ystonia/DS00684/DSECTION=alter

native-medicine

5.

http://www.ncbi.nlm.nih.gov/books/

NBK1414/

6.

http://www.ncbi.nlm.nih.gov/pubme

d/941769

7. http://en.wikipedia.org/wiki/Dystoni

a#Generalized_dystonias

97 Pediatric conditions Hand notes

Hereditary Spastic Diplegia

Definition

Spastic Diplegia that had been

formally identified as Little‘s

Disease

A type of cerebral palsy where both

the arms and legs have abnormal

stiffness.

It is often affecting the legs and the

affected person is a kid.

Spastic diplegia means stiff or

contracted muscles affecting two

extremities causing weakness.

Spastic diplegia is sometimes also

called paraplegia.

Though a large amount of scenarios

are generally formed from cerebral

palsy, it could be a hereditary

sickness.

Characteristically of spastic diplegia

is in fact brought about through

neurological malformations in or

surrounding the ventricles.

Types

Hereditary spastic diplegia are divided into

two types:

i. Pure

- involve only the lower limbs

- example : spastic paraplegia 4

- this type has an autosomal

recessive mode of inheritance and is

due to a mutation in the SPG 4.

ii. Complex

- involve the upper limbs ( to a lesser

degree) and the nervous system.

- example : spastic paraplegia 11

- this type has an autosomal

dominant mode of inheritance and

the

responsible gene has been mapped to

human chromosome 12.

Classification

i. Based on symptoms

- pure hereditary spastic diplegia is

spastic in the lower limbs

- complex hereditary spastic diplegia

when associated with other

neurological signs, including ataxia,

mental retardation, dementia,

extrapyramidal signs, visual

dysfunction or epilepsy.

ii. Base on mode of inheritance

- hereditary spastic diplegia is a

group of genetic disorder, each

caused by different genes that cause

similar symptoms.

- four different mode of inheritance

(a) autosomal dominant

- represent the most common

mode of inheritance

- autosomal means that the

hereditary spastic diplegia gene is located on

one of the autosomal chromosomes.

(b) autosomal recessive

- forms of hereditary spastic

diplegia are located on one of the

autosomes.

- they can be present in males or

females and passed to males or females.

(c) mitochondrial inheritance

(d) x-linked recessive

98 Pediatric conditions Hand notes

- some genes responsible for

hereditary spastic diplegia are found on the

x chromosome.

iii. Based on patient‘s age at onset

Type l

- age onset below 35 years

- spasticity of the lower limbs

is more marked

Type ll

- age onset over 35 years

- muscle weakness, urinary

symptoms and sensory loss are

marked

Causes

Infection

- women who have an infection while

they are pregnant

- increased levels of cytokines -

immune system cells

- caused by a maternal infection

- can lead to damage of the unborn

baby‘s nervous system.

- the cytokines produce inflammation

to fight the infection, but the inflammation

can damage the unborn baby‘s still

developing nervous system

Seizures, mental retardation, thyroid

- Women with seizures, mental

retardation, or thyroid problems are a likely

to give birth to a child with cerebral palsy.

- Being exposed to a poisonous

substance during pregnancy, also put the

unborn baby at higher risk for cerebral

palsy.

Periventricular leukomalacia (PVL).

- Periventricular leukomalacia is

damage of the white-matter that surrounds

the ventricles.

- periventricular white-matter is

vulnerable to injury in the premature infant

because the blood supply system, and some

of the cells that make up the white-matter

are not fully developed.

- infections present in the mother

increases the risk of PVL.

Degeneration of the upper motor

neurons in the brain and spinal cord.

- These neurons control voluntary

movement; and the cell bodies of these

neurons are located in the motor cortex

area of the brain.

- axons that travel to the brainstem

and down the spinal cord.

- The axons relay messages to lower

motor neurons that are located all along

the brainstem and spinal cord.

- Lower motor neurons then carry the

messages out to the muscles.

- muscles become more spasticity and

weakness.

Genetic, inherited or hereditary

disease.

- it is passed on from generation to

generation

99 Pediatric conditions Hand notes

- it is caused by abnormal variation

(mutations) in the genes that may be passed

on from an affected parent to the unborn

child in the DNA.

Clinical Presentation

Symptoms:

Difficulty with balance, stubbing the

toe stumbling

Increased urinary urgency and

frequency

hyperactive reflexes

clonus

Babinski's sign

diminished vibration sensation in the

feet

muscle spasms,

Muscle pain

Difficulty with walking and scissor

gait

- caused by tight muscles in the hips

and legs.

Problems with speech, swallowing or

breathing

peripheral neuropathy, ataxia, mental

retardation, and epilepsy

deafness

nystagmus

arm, face and neck muscles are

usually affected to a lesser degree

than the legs

Investigation

Diagnosis :

- diagnosis of hereditary spastic diplegia

relies upon family history.

- the presence or absence of additional

signs and the exclusion of other nongetic

causes of spasticity.

- sporadic cases.

- specialized genetic testing targeted

towards known genetic mutations are

available at certain specialized centers.

- cerebral and spinal MRI is an

important procedure and also to detect

associated abnormalities.

Prognosis :

1. Hereditary spastic diplegia /

paraplegia is a progressive

condition and usually starts in the

legs and then spreads to other

muscles, leading to confinement

the bed, the prognosis for

individuals varies greatly.

2. Some cases are seriously

disabling while others are less

disabling and are compatible with

a productive and full life.

3. The majority of individuals with

hereditary spastic diplegia have a

normal life expectancy.

Medical Management

Treatments for Spastic Diplegia :

The treatment plan for cerebral palsy

Spastic Diplegia is usually the mix of

medications, physical therapy, selected

dorsal rhizotomy (SDR) orthopedic

surgery, leg braces as well as rehab.

Physical Therapy

- to restore and maintain the ability to

move

- to reduce muscle tone

- to maintain or improve range of motion

and mobility

100 Pediatric conditions Hand notes

- to increase strength and coordination

- to prevent complications such as frozen

joints, contractures or bedsores.

Surgical interventions

- Orthopaedic surgery can be used to

reduce the effects of contracture,

relocate dislocated joints, assist with

the production of power during

walking and alleviating pain.

- Selective Dorsal Rhizotomy (SDR)

works to prevent the development of

deformities by removes some of the

sensory nerves

- SDR surgery can improve speech,

vision and leg function.

Baclofen

- a voluntary muscle relaxant to relax

muscle and reduce tone.

Botulinum toxin (BOTOX)

- it release the muscle in which it is

injected

-not effective in large muscles

- needs to be injected every three to four

months

Oxybutinin

- this drug can relieve the spasm of

urinary bladder

- help in controlling the flow of urine by

increasing the capacity of the urinary

bladder.

References

- www.disabled-world.com/disability/

hsp.php

- www.wemove.org/hsp/hsp_cau.html

-http://www.brainandspinalcord.org/

-www.hspersunite.org.au/about-hsp/what-is-

hsp/

101 Pediatric conditions Hand notes

Myclonus

Definition

A sudden, brief, jerky, shock like,

involuntary movement.

Introduction

A symptom and not a diagnosis of

disease.

The movement are quite rapid and

may be triggered by attempt at

voluntary movement, sensory

stimulation or startle.

Myoclonic twitches or jerks happens

because the sudden muscle

contractions that is call positive

myoclonus or muscle relaxation that

is known as negative myoclonus.

Myoclonus sometimes occurs in

response to an external event or

when a person attempt for making a

movement and the twitching cannot

be controlled by the person.

Hiccup and ‗sleep starts‘ is the

familiar examples of myoclonus.

These type of myoclonus normally

occur in healthy person and cause no

difficulties.

In some cases, myoclonus occur in

one part of the body and spreading to

another areas of muscles .

However, the severe cases can

disrupt movement and a person‘s

ability to do a daily works such as

feeding , walking, talking and etc.

These types of myoclonus can

indicate underlying disorder in the

brain or nerves.

Anatomically, myoclonus may

originate of the lesions or wounds of

the cortex , sub-cortex or spinal cord.

Types

There are many types of MYOCOLONUS,

such as ;

I. Action myoclonus

- is characterized by muscular

jerking triggered or intensified by

voluntary movement

- is the most disabling forms and this

types of myoclonus will affect the

arms ,legs, face and the voices.

- is it caused by brain damage

because the lack of O2 and the blood

flow to the brain when we inhales or

because the heart is temporarily

stopped pumping.

II. Cortical reflex myoclonus - is a type of epilepsy that originates

in the cerebral cortex

- jerks usually involved only a few

muscles in one part of the body,

however jerks involving many

muscles may occur

- this type of myoclonus can be

intensified when individual is try to

move in certain way

III. Essential myoclonus ~it‘s occurs in the absence of

epilepsy or other apparent

abnormalities of the brain or nerves

~ it‘s can happen to somebody

eventhough people with no family

history but it can also appear in the

inheritance

~this type of myoclonus tends to

stable without increasing in severity

overtime

~in some of families, there will be an

association of essential myoclonus,

essential tremor and myoclonus

dystonia.

102 Pediatric conditions Hand notes

IV. Palatal myoclonus ~is a regular , rhythmic contractions

of one or both side of the rear of the

roof of the mouth called soft palate

~these contractions is very rapid and

occurring 150 times a minute then

may persist during sleep,

accompanied by myoclonus in other

muscles likes face, tongue,

diaphragm and throat.

~this condition is happen at adults

~some people with palatal

myoclonus always regard it as minor

problem, although them occasionally

report of a clicking sound in the ear

and a noise sound in the soft palate

that made by the muscles

V. Progressive myoclonus epilepsy

(PME)

~this rare disorder is a group of

disease characterized by myoclonus

and epileptic seizures always get

worse overtime and sometimes are

fatal

~many of the PME disease is occur

in the childhood or adolescence

~research have founds many forms

of PME , lafora body disease is

inherited as an autosomal recessive

disorder, that it when a child inherits

two copy of defective gene. This

disease is characterized by

myoclonus, epileptic seizures and

dementia

~ a 2nd

group of PME disease is

belongings to the class of cerebral

storage disease usually involves

myoclonus, visual problems,

dementia, and dystonia.

~then, the other group is the class of

system degenerations often is

accompanied by action myoclonus,

and problem with balance and

walking

VI. Reticular reflex myoclonus

~is a type of epilepsy that originates

in the brainstem

~myoclonic jerks is usually affect all

part of the body with muscles on the

both side of the body affected

simultaneously and some of the

people will experienced only a part

of the body like a legs

~these myoclonus disorder can be

triggered by either or voluntary

movement

VII. Spinal myoclonus ~is myoclonus originating in the

spinal cord including segmental

,propriospinal myoclonus

~the latter is usually due to a

thoracic generator producing truncal

flexion jerk

~it is often stimulus-induced with a

delay due to the slow conducting

propriospinal nerve fibres

VIII. Stimulus-sensitive myoclonus ~is triggered by a variety of external

events, including noise, light and

movement

~surprise may increase the

sensitivity of the subject/patient

IX. Sleep myoclonus ~is happens during the initial phase

of sleeping

~somebody with sleep myoclonus

are rarely troubled by or need a

treatment for the condition

~however, this type of myoclonus

may be a symptom in more complex

or disturbing sleep disorder needs to

see a doctor

103 Pediatric conditions Hand notes

Causes

Myoclonus may be caused by a variety of

problems;

Myoclonus may develop in response

to infection, head or spinal cord

damage, brain tumor, stroke, liver or

kidney failure, lipid

o storage disease, drugs

poisoning and other disorder

Hypoxia is the prolonged oxygen

deprivation to the brain may result in

posthypoxic myoclonus

Then, myoclonus also occur because

of itself, but most often it is one of

same symptoms associated with wide

variety of nervous system disorder.

Myoclonic jerks is usually occur in

person with epilepsy that is a

disorder in which electrical activity

in the brain becomes disordered

leading to seizures.

Jerks of a muscle group or a series in

rapid sucession which result in the

person jerking bolt upright from a

more relaxed sitting position is seen

ambulatory patient being treated with

a lots amount of drugs such as

morphine.

It is also because by some of the

unrelated drugs such as

anticholinergics

Beside that, pretidine and tramadol

also can cause a jerk because the

neurotransmitter did not have

opioids.

Then , it also caused by central

nervos system.

Clinical Presentation

Spontaneous ~The initial evaluation is taken to

decide whether the myoclonus is

spontaneous.Typically seen normally

or in patients with metabolic

encephalopathies or CJD

Action ~which occurs during active

muscular contractions , and is very

disabling

Reflex ~which occurs to somesthetic, visual

and auditory stimulies

Besides that the other clinical presentation

or is commonly known as a symptons is

myoclonic seizures that can be describes as

jumps. They are caused by rapid contraction

and relaxation of the muscle. Person with no

epilepsy can suffer a little but same jerks in

the form of brief twitches or hiccups.

People with epilepsy , myoclonic seizures

cause abnormal movements on both side of

the body at same time. In reflex , epilepsy ,

myoclonic seizures can bring on by flashing

or environmental trigger.

Severe cases of pathologic myoclonus can

distort movement and severely limits of a

person ability to walk, sleep, and talk .

104 Pediatric conditions Hand notes

Myoclonic jerks commonly occur in

individuals with epilepsy.

Investigation

History and examination is followed by a

series of the investigation that can help to

find the cause.

There are many investigations will be done

to know the myoclonus problem;

Electroencephalography(EEG)

~this test is to record the electrical

activity of your brain.

o ~a small electrodes are

attached on the patient scalp

with paste. The patient will

be asked to inhale steadily for

a few minutes and at the

same time light may be

flashed in patient‘s eyes.

Electromyography(EMG)

o ~this test will measure the

electrical discharge produce

in muscle.

~a very fine wire electrodes

are inserted into the allocated

muscle, an instrument record

the electrical activity from

the patient‘s muscles

o ~these signal help to

investigate if there is a

damage to the muscles.

Magnetic resonance imaging(MRI) ~a test that uses magnetic and radio

waves to take pictures of the inside

of the body

CT scan a type of x-ray that uses a computer

to make pictures of the inside of the

body.

Blood test ;

- blood chemistrty

- thyroid function

- complete blood cell count

- toxicology screen to check for

drugs or toxic

- blood test for looking other

metabolic causes

Medical management / Treatments

There are many ways to treat this

myoclonus disorder;

Medications ~Tranquilizer such as Clonezepam,

Diazepan and Lorazepam

~Anticonvulsants such as Keppra

,Tegretol , Topamax and Depakote

Therapies ~Botox may be helpful in treating

various form all types of myoclonus.

Botox will block the release of chemical

messenger that triggers muscle

contractions

Surgery ~Surgery will be an option if there are

the lesion/wound in your brain or spinal

cord

References

http://www.thirdage.com/hc/c

/what-is-myoclonus

http://en.wikipedia.org/wiki/

Myoclonus

http://www.ninds.nih.gov/dis

orders/myoclonus/detail_myo

clonus.htm

http://www.mayoclinic.com/h

ealth/myoclonus/DS00754

105 Pediatric conditions Hand notes

Rett’s Syndrome

Definition

Rett syndrome is a childhood

neurodevelopmental disorder characterized

by normal development in early life.

However, between 6 and 18 months

of age, though, changes in the normal

patterns of mental and social development

begin.

For example, patient will loss of

purposeful use of hands, distinctive

hand movements,

slowed brain and head growth, gait

abnormalities, seizures, and mental

retardation.

Rett syndrome is an autism spectrum

disorder that affects girls almost exclusively.

Although there's no cure, early

identification and treatment may help girls

and families who are affected by Rett

syndrome.

The disorder was identified by Dr.

Andreas Rett, an Austrian physician.

Types

There are some types of Rett syndrome:

· Atypical

· Classical

· Provisional

Rett syndrome is classified as atypical if:

· The disorder begins soon after birth or

beyond 18 months of age, sometimes as late

as 3 or 4 years old.

· Speech and hand skill problems are

mild.

· The disorder appears in a boy is very

rare.

Rett syndrome is classified as classical if the

patient meets the diagnostic criteria. For

example:

· The patient developed normally until

the age 6 to 18 months.

· The patient has severely impaired

language and communication skills.

Rett syndrome is classified as provisional if

some symptoms appear between ages 1 and

3.

Stages

There are four stages of Rett syndrome:

Stage 1 (early onset)

· Generally begins between 6 and 18

months age.

· At this stage, symptoms of the

disorder are overlooked because they vague.

· The baby starts to show less eye

contact and not interested in toys.

· Delays in gross motor skills such as

sitting or crawling will be occurring.

· Hand-wringing and decreasing in the

growth of the head may be occur, but it still

not enough to draw attention.

· Usually, this stage lasts for a few

months but can persist for more than one

year.

Stage 2 (rapid destructive)

· Generally begins between ages 1 and

4 years old.

· At this stage, purposeful hand skills

and spoken language are lost.

· Characteristic of hand movements

start to appear. For example, wringing,

washing, clapping, or tapping, as well as

repeatedly moving the hands to the mouths.

106 Pediatric conditions Hand notes

· Sometimes, hands are clasping behind

the back or held the sides with random

touching, grasping, and releasing.

· It happens while the children are

awake and disappear while the children

sleep.

· Breathing irregularities may occur

and breathing back to normal during sleep.

· Display autistic-like symptoms occur

in some girls with Rett syndrome.

· General irritability and irregularities

in sleep may be seen.

· Initiating the motor movements will

be difficult and gait patterns are unsteady.

· Slowing of head growth is noticed.

· Usually, this stage lasts for weeks or

months.

Stage 3 (plateau or pseudo-stationary)

· Generally begins between ages 2 and

10.

· At this stage, apraxia, motor problems

and seizures are prominent.

· However, there may be improvement

in behavior with less irritability, crying, and

autistic-like features.

· Children with Rett syndrome may

show more interest in their surroundings.

· Their alertness, attention span and

communication skills also may improve.

· Many of the girls with Rett syndrome

remain at this stage for most of their lives.

· Usually, this stage last for years.

Stage 4 (late motor deterioration)

· At this stage, the prominent features

are muscle weakness, rigidity, spasticity,

dystonia and scoliosis.

· Girls who are can walk before this

may stop walking.

· There is no decline in cognition,

communication, or hand skills.

· Repetitive hand movements will

decrease and eye gaze will improve.

· Usually, this stage last for years or

decades and is characterized by reduced

movement.

Causes

Rett syndrome is caused by a

mutation in the MECP2 gene, which is

located on the X chromosome. The X

chromosome is one of two chromosomes

that form the gender of a person.

Researchers found that the MECP2

gene is one of the genes that responsible for

making a protein needed for normal brain

development. The research was identified in

1999.

In each cell, girls have two X chromosome.

Every cell inactivates one of its two X

chromosomes because a cell just needs only

one copy of the gene. The more cells that

have an inactivated version of the mutated

gene, the milder the case of Rett syndrome.

Whereas, the boys have one X chromosome

and one Y chromosome. Usually, boys will

die from mutations in Rett syndrome gene

before the birth or in early life because they

lack the second normal X chromosome. The

second X chromosome partially protects the

girls.

Seventy to 80 of girls that faced with Rett

syndrome have a mutation of the MECP2

gene. Scientists think that the other 20 to 30

percent of cases the syndrome may be

caused by mutations in other parts of the

MECP2 gene. It may be by partial gene

deletions or by genes that have not yet

found.

107 Pediatric conditions Hand notes

Clinical Presentation

Signs of Rett Syndrome

· Children with Rett syndrome do not

make conversation.

· Children with Rett syndrome have a

problem with learning and reasoning or in

the other hand, it called intelligence.

· Cannot control the use of hands and

puts her hands in the mouth often also the

sign of Rett syndrome.

· The growth of the head becomes

slowly not like the other parts of the body

also the sign for the children with Rett

syndrome.

· Children with Rett syndrome also

walk in an unstable manner, on tiptoes or

with the feet spread wide apart.

· Children with Rett syndrome also

have problem breathings and problem

sleeping during normal.

· They also have to face with seizures

and scoliosis.

Symptoms of Rett Syndrome

· The rate of growth becomes slow.

After birth, the brain growth with slowly.

Usually, the first sign that a child has Rett

syndrome is the size of head smaller than

normal. That sign start to appear after 6

months of age. Delayed growth in other

parts of the body becomes evident when the

children with Rett syndrome get older.

· The children with Rett syndrome will

loss the normal movement and coordination.

Usually, it starts between 12 to 18 months of

age. The decreasing of hand control and

ability to crawl or walk normally are the first

signs that often include in Rett syndrome. At

first, the decreasing of this ability happens

rapidly and then continues more gradually.

· The children with Rett syndrome also

will loss the abilities of communication and

thinking. At ages 12 to 18 months, they

typically begin to lose the ability to speak

and communicate in other ways. They also

become uninterested in other people, toys

and their surroundings. Over time, most of

them gradually regain eye contact and

develop nonverbal communication skills.

· The children with Rett syndrome have

an abnormal hand movement. As the disease

progresses, the children typically develop

their own particular hand patterns. For

example, hand wringing, squeezing,

clapping, tapping or rubbing.

· Eye with unusual movements also the

symptom for the children with Rett

syndrome. Examples of unusual eye

movements are blinking or closing one eye

at a time.

· Problems in breathing include breath-

holding, abnormally rapid breathing and

forceful exhalation air or saliva also one of

the symptoms that will face by the children

with Rett syndrome. These problems happen

during waking hours, but not during sleeps.

· Irritability also the symptom of Rett

syndrome. The children with Rett syndrome

become more agitated and irritable when

they get older. They will cry or scream with

suddenly and will last for hours. Between

the ages of 2 and 10 years old, the children

become calmer.

· Children with Rett syndrome have

abnormal behaviors. For example, sudden,

odd facial expressions and long bouts of

laughter, screaming that occur for no reason,

108 Pediatric conditions Hand notes

hand licking, and grasping of hair or

clothing.

· Seizures also the symptom for Rett

syndrome. Most of the children with Rett

syndrome will have the development of

seizures. Symptoms different from person to

person, and they can range from periodic

muscle spasms to full-blown epilepsy.

· Abnormal curvature of the spine or

scoliosis occurs in children with Rett

syndrome. Usually, it begins between 8 and

11 years old.

· Children with Rett syndrome also

have an irregular heartbeat or arrhythmia.

For the children and adults that have Rett

syndrome, this is a life-threatening problem.

· Constipation is a common problem in

people that have Rett syndrome.

Investigation

· Blood and urine tests; analysis of

cerebrospinal fluid (CSF), neurophysiologic

tests, such as electromyography (EMG) and

Nerve conduction velocity (NCV) studies,

and neuroimaging techniques, including

computerized tomography (CT) scanning or

magnetic resonance imaging (MRI) – to

eliminate possible neurodegenerative,

neurometabolic, mitochondrial, or other

disorders that may have similar symptoms.

· Electroencephalography (EEG) –

detect brain wave patterns that are

unusually slow, characteristic of certain

types of seizure activity, or associated with

abnormal sleep patterns.

· X-ray – confirm relative shortening of

certain bones.

· Electrocardiography – to detect heart

conduction abnormalities.

· Developmental landmarks – generally

in head circumference and growth progress

· Nutritional markers – weight and

height of the patient

· Musculo-skeletal status – muscle

tone, supine posture for scoliosis and joint

contractures

· Movements – gross motor function,

involuntary movements and voluntary hand

use.

· Mental and cortical functions –

intellectual disability, speech and epilepsy.

· Brainstem and autonomic functions –

disturbed awake breathing rhythm, poor

peripheral circulation, mood disturbance

and sleep disturbance.

Medical Management

There are various treatments for the various

health issues of Rett syndrome. For

example:

Naltrexone (ReVia) is an opiate antagonist

that can help regulate irregular breathing.

Yet, a study suggests that the drug speeds up

the progression of the disease.

Levodopa (L-dopa) therapy is a synthetic

dopamine drug that can help relieve muscle

stiffness.

Some people with Rett syndrome who take

anticonvulsants to prevent seizures

experience carnitine

deficiency. Levocarnitine (L-carnitine)

effectively treats the deficiency.

Tyrosine (dopamine and noradrenalin)

and tryptophan (serotonin) are amino acids

that can improve neurotransmitter levels in

the brain.

109 Pediatric conditions Hand notes

Bromocripitine (parlodel) can improve the

brain's dopamine function. The drug helps

with self-stimulatory hand movements.

· Intake of nutritional and caloric must

be controlled.

· Supplemental feedings is used to deal

with slowed growth.

· A feeding tube is necessary if the

child has difficulty chewing.

· A nasogastric feeding tube will

directly deliver the liquid nutrients to the

stomach through a tube inserted in the nose.

· Special diets can help a person to

maintain an ideal weight and nutritional

balance, which may contribute toward

making symptoms less severe.

· Advantage of providing a normal

intake of fluids and high-fiber foods is to

avoid or relieve constipation.

· Calcium and minerals supplements

help to build up the bones and slow the

progression of scoliosis.

Prognosis

The course of Rett syndrome,

including the age of onset and the severity of

symptoms, varies from child to child.

Despite the difficulties with symptoms, most

individuals with Rett syndrome continue to

live well into middle age and beyond.

Because the disorder is rare, very little is

known about long-term prognosis and life

expectancy. Currently, there is no cure for

Rett syndrome. Treatment for the disorder is

symptomatic. It only focusing on the

management of symptoms and requiring a

multidisciplinary approach.

Treatment of Rett syndrome includes:

· Medication may be needed for

breathing irregularities and motor

difficulties, and antiepileptic drugs may be

used to control seizures. There should be

regular monitoring for scoliosis and possible

heart abnormalities.

· Occupational therapists will help

children develop skills needed for

performing self-directed activities such as

dressing, feeding, and practicing arts and

crafts.

· Physiotherapy and hydrotherapy may

prolong mobility.

· Physical therapy responsible to keep

the muscles of the hands from contracting.

· Speech therapy may be necessary if

the child has problems in speaking,

communicating or swallowing.

· Some children may require special

equipment and aids such as braces to arrest

scoliosis, splints to modify hand

movements, and nutritional programs to help

them maintain adequate weight.

· Special academic, social, vocational,

and support services may also be required in

some cases.

References

1. http://www.mayoclinic.com/health/rett

-syndrome/DS00716

2. http://www.ninds.nih.gov/disorders/ret

t/details rett.htm

3. http://www.ncbi.nlm.nih.gov/pudmedh

ealth/PMH0002503/

4. http://www.mychildwithoutlimits.org/

5. http://www.healthnewflash.com/condit

ions/rett syndrome.php

6. http://www.wellness.com

110 Pediatric conditions Hand notes

CHILDREN WITH

DEVELOPMENTAL

DELAY

Developmental Delays

Definition

Child development refers to the

process in which children go through

changes in skill development during

predictable time periods, called

developmental milestones.

Developmental delay occurs when

children have not reached these

milestones by the expected time

period.

For example, if the normal range for

learning to walk is between 9 and 15

months, and a 20-month-old child

has still not begun walking, this

would be considered a

developmental delay.

Developmental delays can occur in

all five areas of development or may

just happen in one or more of those

areas.

Additionally, growth in each area of

development is related to growth in

the other areas. So if there is a

difficulty in one area (e.g., speech

and language), it is likely to

influence development in other areas

(e.g., social and emotional).

A child may have a developmental delay in

one or more of these areas.

Gross motor: using large groups of

muscles to sit, stand, walk, run,

keeping balance, and changing

positions.

Fine motor: using hands and fingers

to be able to eat, draw, dress, play,

write, and do many other things.

Language: speaking, using body

language and gestures,

communicating, and understanding

what others say.

Cognitive: Thinking skills including

learning, understanding, problem-

solving, reasoning, and

remembering.

Social: Interacting with others,

having relationships with family,

friends, and teachers, cooperating,

and responding to the feelings of

others.

TYPE

There are various types of developmental

delays in infants and young children which

are listed below :

1. Attention Deficit Disorder (ADD)/

Attention Deficit Hyperactivity

Disorder (ADHD)

One of the most common

neurobehavioural disorder,

characterized by problems with

inattentiveness, over-activity,

impulsivity or a combination.

2. Angelman Syndrome

A genetic disorder in which gene

15 is missing or unexpressed.

Children with this syndrome

typically developmental delays

that are frequently evident

between 6-12 age.

3. Autism Spectrum Disorders

111 Pediatric conditions Hand notes

Autism is an umbrella term for a

wide spectrum of disorders

Sometimes referred to as

―Pervasive Developmental

Disorders‖ or ―Autism Spectrum

Disorders.‖

4. Bipolar Disorder

Also known as manic depression

A form of mood disorder

characterized by variation of

moods that fluctuate between a

manic phase of elation,

hyperactivity and hyper

imagination, and a depressive

phase f inhibition, slowness to

conceive ideas and move, and

anxiety or sadness.

5. Central Auditory Processing

Disorder (CAPD)

Children with CAPD cannot fully

process auditory information

passed between the ear and the

brain.

They may have difficulties hearing

amidst distracting background

noise, remembering information,

discriminating between similar

sounds or words, or listening long

enough to complete a task.

It may affect their ability to

develop normal language skills,

succeed academically, or

communicate effectively.

6. Cerebral Palsy

Disorder caused by damage to the

brain that occurs before, during, or

shortly following birth.

It affects body movement and

muscle coordination such as

seizures, abnormal speech, hearing

and visual impairments, and

mental retardation.

7. Down Syndrome

Chromosomal abnormalities that

changes the course of development

and causes the characteristics

associated with the syndrome.

Speech and language may be

delayed

8. Expressive Language Disorder

Child will have problems

expressing him or herself in

speech.

Characteristics may include limited

vocabulary, difficulty recalling

words and producing complex or

lengthy sentences.

Children with expressive disorder

often start speaking late and

experience delays acquiring

expressive language.

9. Fragile-X syndrome

Most common form of mental

retardation

More common in boys than girls.

Often have distinctive physical

feature such as long face, large

prominent ears and hyperextensible

joints.

10. IsoDicentric 15

Also known as idic (15)

Patient may experienced flat nose

(button nose), folds at the corner of

the eyes and other may be present.

11. Landau-Kleffner Syndrome

Progressive loss of the ability to

understand and use spoken

112 Pediatric conditions Hand notes

language, following a period of

normal speech development.

Most frequently occur in

developing children who are

between 3 to 7 years old.

12. Learning disabilities (LD)

Characterized by difficulty

learning, sorting and storing

information.

Usually affected individuals have

with average or above average

intelligence.

They may have one or more

difficulties with skills such as

listening, speaking, reading,

writing, reasoning, or mathematical

abilities that interfere with

academic performance.

13. Mental retardation

Substantial limitations in

intellectual functioning and

adaptive skills.

Person with mental retardation may

have difficulties with

communication, conceptual skills,

social skills, self care, home living,

community use, self direction,

health and safety, functional

academics, leisure and work.

14. Neural Tube Defects

Birth defects that involve central

nervous system.

The disability that may occur

including learning disabilities,

social issues, lower extremity

paralysis, loss of bowel or bladder

control, and hydrocephalus .

These disabilities can produce

retardation unless it is surgically

treated.

15. Phenylketonuria (PKU)

Is an inherited metabolic disorder

in which the body cannot

metabolize the amino acid

phenylalanine that is present in

many common foods.

PKU can cause various degree of

mental retardation, seizures, and

other neurological problems.

16. Pruder-Willi Syndrome

Prader-Willi Syndrome is a

combination of birth defects

caused by inheriting both copies of

the #15 chromosome from the

mother (25%) or by inheriting a

deletion of a region of

chromosome #15 from the father

(75% of PWS).

Signs of PWS include hypotonia,

global developmental delay evident

before age 6, feeding problems in

infancy, narrow face, almond-

shaped eyes, small-appearing

mouth, hypopigmentation, motor

planning problems, behavioral

problems, sleep disturbances and

compulsive eating problems.

17. Seizure disorder

It may cause physical convulsion,

minor physical signs, thought

disturbances, or a combinations of

symptoms that are the result of

uncontrolled electrical activity in

the brain.

The patient may occur one or more

different types and levels of

severity of seizures.

18. Tourette Syndrome

Tourette Syndrome is a

neurological disorder characterized,

113 Pediatric conditions Hand notes

in mild form, by recurring

involuntary body movements and

sounds (called tics) and, in

advanced cases by large involuntary

bodily movements, noises like

barks and whistles, and in many

instances an uncontrollable urge to

utter obscenities.

People with Tourette Syndrome are

often impulsive and have other

symptoms of Attention Deficit

Disorder.

19. Traumatic Brain Injuries

TBI is a disabilities category that

occurs because of brain injury to

the brain as a result of an accident,

insufficient oxygen, poisoning or

infection at any time during

individual‘s life.

It does not include congenital or

degenerative brain injuries or brain

injuries caused by birth trauma.

20. Williams Syndrome

Rare genetic disorder present at

birth at is associated with deletion

of genetic material in chromosome

7.

The disorder is characterized by

unique elfin facial features, heart

and blood vessels problem, elevated

blood calcium levels, slow weight

gain, feeding problems, colic, dental

problems, kidney problems, hernias,

and hypotonia.

Causes

Three main causes of developmental delay.

genetic

complications in prenatal, natal and

post natal

environment

1) Developmental delay cause by

genetic

autism spectrum disorder

down syndrome

fragile X syndrome

2) Developmental delay cause by

complication in prenatal, natal and

post- natal

Prenatal

drug abuse

alcohol

smoking

brain trauma

ex : mother had an accident during

pregnancy and may cause brain

damage to the baby

Natal

Premature birth

premature baby`s brain didn`t fully

develop.

Encephalitis

It is an irritation and inflammation of

the brain that lead to the destruction

of nerve cells, bleeding into the brain

(intracerebral hemorrhage), and brain

damage.

Brain trauma

114 Pediatric conditions Hand notes

Ex : doctor`s equipment hits baby`s

head

Post - natal

fatal exposure to toxins

brain trauma

Ex : baby falls down

meningitis

is an inflammation of the meninges,

the membranes that cover the brain

and spinal cord.

3) Developmental delay cause by

environment

malnutrition

unbalanced diet in which certain

nutrients are lacking, in excess (too

high an intake), or in the wrong

proportions

metabolic disorder

abnormal chemical reactions in your

body disrupt metabolic process

child abuse

abuse:

to treat in a harmful, injurious, or off

ensive way

child abuse is physical, sexual,

emotional mistreatment, or neglect

of children.

learning abnormalities

socio-emotional development

is changes in a person's emotions,

relations with others, self-concept,

and personality, which is a stable

way of thinking, feeling, and

behaving.

Illness.

Sign and symptom

There are several general sign and

symptom of this developmental delay.

These include :

Behavioral Signs

Does not pay attention or stay

focused on an activity for as long

time as other children of the

same age.

Avoids or rarely makes eye

contact with others

Shows aggressive behaviours and

appears to be very stubborn

compared with other children

Displays violent behaviours on a

daily basis

Does not seek love and approval

from the caregiver or parent

Gross Motor Signs

Has stiff arms and / or legs

Has a floppy or limp body

posture

Uses one side of body more than

the other

Has a very clumsy manner

compared with other children of

the same age

115 Pediatric conditions Hand notes

Vision Signs

Seems to have difficulty following

objects or people with his eyes

Rubs eyes frequently

Turns, tilts or holds head in a

strained or unusual position when

trying to look at an object

Has difficulty focusing or making

eye contact

Eyes appears to be crossed or

turned

Brings objects too close to eyes

to see

One or both eyes appear abnormal

in size or coloring

Hearing Signs

Talks in a very loud or very soft

voice

Seems to have difficulty

responding when called

Has difficulty understanding what

has been said or following

directions

Doesn‘t startle to loud noises

Ears appear small or deformed

Investigation

Investigation of developmental delay is

carried out during the early life‘s child. The

investigation of this abnormal condition

might be difficult. Regression is necessary

to be defined out.

When performing investigations, the

approach to perform it is influenced by:

1)The practicalities of carrying out

investigations on child/subject

2)Financial considerations

3)Identifying prevalent serious

conditions.The examples are Creatine

Kinase and Muscular Dystrophy

4)Identifying treatable conditions

Investigation methods

1)Genetics

-Chromosome analysis shows the highest

number of abnormalities investigating

developmental delay

-Chromosome and Fragile X are located in

first line investigations if history and

examination do not reveal an obvious

etiology.

-Fragile X indicates the commonest factor of

learning disability

2)Neuroimaging

-Day case admission to hospital for sedation

or general anaesthesia is required if cranial

MRI[Magnetic Resonance Imaging] is

conducted for child below 5 or 6 years.

3)Metabolic

-Individual Inborn Errors of Metabolism

[IEM] can present with non-specific

developmental delay.

-Usually these errors are rare to occur

-Metabolic investigations are specific

116 Pediatric conditions Hand notes

5)Renal, Bone

-Electrolytes and Urea are placed in first line

investigations

-Calcium measurement may assist in the

diagnosis of Velo-cardio-facial and

Williams

syndrome,pseudohypoparathyroidism.

6)TFT[Thyroid Function Test]

-Thyroid Function tests are easy to be

performed

-Many chromosomal abnormalities are

associated with an increased risk of

thyroidism

7)Lead

-Chronic lead toxicity may cause long

lasting developmental delay, behavorial and

poor coordination

-Treatable by chelation

8)FBCF

-Full Blood Count and Feritin[FBCF]

detects iron deficiency which may lead to

developmental delay

-It is treatable

9)Opthalmology

-Opthalmology is performed when there are

concerns about visual function, abnormal

appearances of eyes.

10)Radiograph

-Mainly performed to detect suspected

skeletal dysplasia or lead toxicity.

Medical Management

There is no one treatment that works

for every child with a developmental

delay.

In many cases, the delay can be

overcome with the right combination

of treatment by the therapies.

Children are unique, they learn and

grow and develop in their own way,

at their own pace, based on their

strengths and weaknesses.

Any treatment plan will take this

uniqueness into account and be

designed to focus on individual

needs.

Early intervention services are the

main theme of treatment, but any

underlying conditions that have lead

to developmental delay will need to

be treated as well. Early intervention

services may include:

Speech and language therapy.

Occupational therapy.

Physical therapy.

In addition, if there are other disabilities

present, medical or surgical treatments

may be required to manage those

conditions.

Reference

http://www.firstsigns.org/delays_disorders/o

ther_disorders.htm

http://www.webmd.com/parenting/baby/reco

gnizing-developmental-delays-birth-age-2

http://wiki.answers.com/Q/Definition_of_so

cio-emotional_development

117 Pediatric conditions Hand notes

http://dictionary.reference.com/browse/abus

e

http://www.wrongdiagnosis.com/symptoms/

developmental_delay_in_children/common.

htm

http://www.mychildwithoutlimits.org/?page

=what-causes-developmental-delay

CHILDREN WITH

COGNITIVE

DYSFUNCTION

Mental Retardation

Definition

Mental Retardation is a condition diagnosed

before age 18 that includes below-average

general intellectual function, and a lack of

the skills necessary for daily living. The

person who faced with this disease has a

noticeable deficiency in the development of

motor, social, cognitive and language

functions.

Types

There are 4 types of mental retardation.

Mild Mental Retardation

Mild mental retardation is approximately

85% of mentally retarded population.The

patient is often acquire academic skills up to

sixth-grade level.He can become fairly self-

sufficient and in some cases live

independently,with community and social

support.

Moderate Mental Retardation

This kind of mental retardation is 10% of

mentally retarded population. The patient

can carry out work and self-care tasks with

moderate supervision. He is typically

acquire communication skills in childhood.

He also is able to live and function

118 Pediatric conditions Hand notes

successfully within the community in such

supervised environments as group homes.

Severe Mental Retardation

It covers about 3-4% of mentally retarded

population. The patient may master very

basic self-care skills and some

communication skills. They are able to live

in a group home.

Profound Mental Retardation

This profound mental retardation is only 1-

2% of mentally retarded population.The

patient may be able to develop basic self-

care and communication skills but with

appropriate support and

training.Moreover,this type of patient need a

high level of structure and supervision.

Table 1 shows types of mental retardation

with different IQ level :

LEVEL OF MENTAL

RETARDATION

IQ

LEVEL

Mild Mental Retardation 50-69

Moderate Mental Retardation 36-49

Severe Mental Retardation 20-34

Profound Mental Retardation Below 20

Table 1

Causes

Infections (at birth/after birth)

Congenital CMV (Cytomegalovirus)

Congenital Rubella

Congenital Toxoplasmosis

Encephalitis

HIV infection

Listeriosis

Meningitis

Chromosomal Abnormalities

Chromosome deletion (such as Cri

Du Chat)

Chromosome translocation (a gene is

located in an unusual spot on a

chromosome, or located on a

different chromosome than usual)

Defects in the chromosome or

chromosomal inheritance (such as

Fragile X Syndrome, Angelman

Syndrome,Prader-Willi Syndrome)

Errors of chromosome numbers (ex :

Down‘s Syndrome )

Environment

Deprivation Syndrome

Genetic Abnormalities And Inherited

Metabolic Disorders

Adrenoleukodystrophy

Galactosemia

Hunter Syndrome

Hurler Syndrome

Lesch-Nyhan Syndrome

Phenylketonuria

Rett Syndrome

Sanfilippo Syndrome

Tay-Sachs Disease

Tuberous Sclerosis

Metabolic

Congenital Hypothyroid

Hypoglycemia (poorly regulated

Diabetes)

Reye Syndrome

119 Pediatric conditions Hand notes

Hyperbilirubinemia (very high

bilirubin levels in babies)

Nutritional

Malnutrition

Toxic

Intrauterine exposure to alcohol,

cocaine, amphetamines and other

drugs

Lead poisoning

Methyl mercury poisoning

Trauma (before and after birth)

Intracranial hemorrhage

Lack of oxygen to the brain

Severe head injury

Unexplained Cause

It is the largest category of cause of

mental retardation

Clinical Presentation

Mild Mental Retardation

1. Have learning difficulties and poor

social skills

2. Can reach the educational plateau up

to Grade 6

3. The educational attainment is very

difficult or impossible

4. With age until childhood,he may

learn enough job skills and life skills

to carry forward his life on his own

Moderate Mental Retardation

1. Reach developmental milestones a

bit later than others

2. Child faces difficulty in learning

basic communication, social and

academic skills

3. Have lacks ability to retain

information and remember things

4. Also have lacks curiosity, logical

thinking and problem solving

capability

5. Need constant supervision and care

for survival

6. They are trainable for vocational

activities

Severe Mental Retardation

1. Shows all mentioned symptoms of

mild and severe, but a very high

level

2. Shows aggressiveness and self-injury

3. Child not able to learn the basic

skills of life

4. Needs another person‘s nursing,

supervision and care throughout his

entire life

5. The children can be trainable with

activity of daily living (ADL)

Profound Mental Retardation

1. There is no muscle co-ordination

seen in the infant

2. Child not able to reach

developmental milestones like

talking,walking and crawling as

expected with age and growth

3. Child requires constant care and

supervision throughout his life

120 Pediatric conditions Hand notes

Investigation

We can assess the patient who suspected

with mental retardation by a lot of ways.

Some of them are :

Physical Examination

The therapist should looking for any

characteristic dysmorphic

(abnormality of shape) features of

face and body.

Interviews With Parents

It is to assess the child‘s daily

living,muscle control,communication

and social skills.

Denver Developmental Screening

Test

Used for screening cognitive and

behavioural problems in preschool

children.

Electroencephalogram

It is used to detect associated

epilepsy.

IQ Test

IQ Test is used to assess the patient‘s

intelligence.

There are a few types of IQ Test :

1. Wechsler Intelligence Scale

For Children

2. Stanford-Binet

3. Woodcock-Johnson Tests of

Cognitive Abilities

4. Kaufman Assessment Battery

For Children

Radiological Investigation

MRI and CT Scan are used to detect

the presence of physical findings that

are unseen by human‘s eye.

Medical Management

MEDICINE

Anti-Psychotics

Anti-psychotics used to control the

symptoms of mental retardation.

SURGERY

Surgery is rare to manage the child

with mental retardation.

REHABILITATION

Occupational Therapist:

Occupational Therapist help patient

acquire the skills to care for

themselves or others which including

:

Keeping a schedule

Medication management

Education

Participate in the community

Engaging in productive

activities to fill the day

Coping skills

Building social skills

Physiotherapist: Therapist help to the

impairments of vision, ambulation,

activities of daily living (ADL),

movement and muscle strength.

Therapist also focus the treatment on

121 Pediatric conditions Hand notes

improving gross and fine motor

skills,balance and co-

ordination,strength and endurance as

well as cognitive and sensory

processing/integration.

Family Therapy

Family members should be

interactive and co-operate each other

to help the patient to develop their

coping skills.This therapy also can

be supportive to the patient and

produces warm home environment

which can help patient to reach their

full potential.

References

1. Frankenburg, W.K. and Dodds, J.B.:

The Denver Developmental

Screening Test. J. Pediat., 71:181,

1967.

2. Frankenburg, W.K., Dodds, J.,

Archer, P. et al.: The DENVER II: A

major revision and restandardization

of the Denver Developmental

Screening Test. Pediatrics, 89:91-97,

1992

3. Camp, B.W.: Evaluating bias in

validity studies of developmental/

behavioral screening tests,

2007,28,234-240.

4. Begg, C.B.Biases in the assessment

of diagnostic tests. Stat Med

1987;6:411-423

122 Pediatric conditions Hand notes

Pervasive Development

Disorders

Introduction

The term pervasive development

disorder was first used in the 1980s

to describe a class of neurological

disorders that involve impaired

social and communication skills and

repetitive behaviors.

Due to the difficulty of accurately

describe these disorders using the

term pervasive development

disorders, some neurological and

psychiatric specialists have

suggested a new term to describe this

class of disorders, including autistic

spectrum disorders and various

neurological disorders system.

Definition

Pervasive development disorders (PDD)

refers to a group of conditions that come

from childhood involving severe damage in

several areas, including physical, behavioral,

cognitive, social and language development.

PDD appears in the early stages as

an affected, but more often identified

in young children, mostly boys 18-30

months of age when their parents or

doctors note the absence or delay in

speech development and less

interested in normal children or other

regression of early speech and

sociability.

Classical autism is best known

subtypes of the disease and involves

severe qualitative deficits in social

interaction, language communication

and play and is associated with

perseverative behavior and

stereotypic.

Other conditions that fall under this

category of Pervasive Development

Disorders including Asperger‘s

disorder, Rett's disorder, Childhood

Disintegrative Disorder and

Pervasive Development Disorder

Not Otherwise Specified

(PDDNOS).

Types

There are 5 main types of pervasive

development disorders :

Autistic Disorders

Autistic Disorder, sometimes

referred to as early autism baby

or child autism, is four times

more frequently in boys than

girls. Autistic Disorder children

have moderate to severe range of

communication, socialization and

behavioral problems. Many

children with autism also have

mental retardation.

Rett‘s Disorder

Rett‘s Disorder, also known as

Rett syndrome, diagnosed

primarily in females. In children

with Rett‘s Disorder,

123 Pediatric conditions Hand notes

development seemed normal

over the first 6-18 months at the

point where parents notice

changes in their child's behavior

and some regression or loss of

ability, especially in gross motor

skills like walking and moving .

This was followed by a clear loss

in abilities such as speech,

thought, and the hand use. The

repetition of certain movements

or meaningless gestures is an

important indicator for the

diagnosis of Rett's Disorder. This

gestures usually consists of

regular hand-wringing or hand

washing.

Childhood Disintegrative Disorder

Childhood Disintegrative

Disorder is extremely rare, it is

clearly apparent regression in a

variety areas of functioning (such

as the ability to move, bladder

and bowel control, and social and

language skills) following a

period of at least 2 years of

development seems normal. By

definition, childhood

Disintegrative Disorders can only

be confirmed when symptoms

are preceded by at least 2 years

of normal development and the

beginning of the decline was

prior to 10 years.

Asperger's Disorder

Asperger's Disorder, also

referred to as Asperger‘s

syndrome, are disorders

characterized by lack of

development of social skills,

difficulty with social

relationships, poor coordination

and focus, and a variety of

limited interest, but normal

intelligence and adequate

language skills in the areas of

vocabulary and grammar. An

individual with Asperger's

Disorder do not have a

significant delay in language

development, but he may have

difficulty to understanding the

subtleties used in conversation,

such as irony and humor.

Pervasive Developmental Disorder

Not Otherwise Specified, or

PDDNOS

This category is used to refer to

children who have significant

problems with communication

and play, and some difficulty

interacting with others, but are

too social to be considered

autistic. Typically, children with

PDDNOS showed no signs until

age three or four.

Causes

The cause of this disorder is

unknown although brain structure

abnormalities, genetic mutations, and

changes in brain function is believed

to play a role. However, no single

brain abnormalities or location is

connected to the cause. In 2004,

scientists reported finding the gene

124 Pediatric conditions Hand notes

mutation (in the gene MECP2) are

present in 80% of people affected

with Rett's syndrome. In 2004, a

comprehensive review of research on

twins revealed that the interaction

between various genes may play a

role in the cause of autism. Several

neurological conditions such as

epilepsy, is usually found to

accompany this disorder.

Clinical Presentation

Signs and symptoms

Pervasive developmental

disorders symptoms can be seen

as early as the development of

early stage, the usual starting age

is the age of three. Although each

of the five with its own

symptoms, in general, the early

symptoms of a comprehensive

development disorders including

the following:

language listening skill

difficulties associated with

people, objects, or activities

unusual play

repetitive body movements or

behavior patterns

difficulty in handling changes in

routine or environment

unusual responses to sensory

stimuli, such as lighting and noise

The following are the most

common symptom of several

disorders overall development.

However, each child may

experience symptoms differently.

Signs of autism may include:

• Social interaction is not well

with others, including parents

* avoid making eye contact with

others, including parents

* failure to develop friends or

interact with other children

Do not communicate well

with others

Delayed or does not develop

language

Have echolalia (repeating words

or phrases repeatedly, like an

echo)

• demonstrate repetitive

behaviors

• is preoccupied, usually with

lights, moving objects, or parts

of objects

• do not like the sound

Signs of Asperger's disorder may

include:

• normal development of speech,

self-help skills, thinking skills

(cognitive development), and

curiosity about their environment

• difficulty with social

interaction, such as making

friends, sharing ideas, facial

expressions (smile), or eye

contact with others

125 Pediatric conditions Hand notes

Symptoms of Rett‘s disorder may

include:

• Growth of normal pregnancy,

birth, and newborn development

• normal growth and

development during the first 5-18

months of life

• normal head circumference at

birth

Signs of childhood

disintegrative disorder may

include:

• at least two years, and usually

up to four years, the normal

development including speech,

social interactions and

relationships, and play and

adaptive behavior

• within a short period (several

months), losses in social

function, communication and

behavioral skills occurs.

Without any obvious illness or

cause, children experiencing

disintegrative disorder become

nervous, angry, negative, and

disobedient with frequent

temper tantrums and outbursts

for no apparent reason. These

children have lost a complete

speech and language,

understanding language, and a

decrease in thinking (cognitive)

skills.

Investigation

Diagnosis

o Pervasive development disorders are

diagnosed using Diagnostic and

Statistical Manual of Mental

Disorder (DSM), which provide

criteria for physicians to diagnose a

certain type.

o Diagnosis of pervasive development

disorders is difficult because there is

no special test medicine, such as

blood tests or imaging tests that can

confirm the diagnosis. Some doctors

may hesitate to diagnose children

with certain types of pervasive

developmental disorder.

o Diagnosis of this disorder usually

require consultation and evaluation

by experts in child development

disorders, such as child psychiatrists,

pediatric neurologist,

neuropsychologist or development

child psychologist.

o The experts evaluate medical

laboratory tests, neurological tests,

and psychological tests; interview

parents and children, and observe

and evaluate behavior. Educational

skills test, communication

assessment and motor skills

assessment can be carried out.

o Medical tests can be done to push

other medical conditions, including

electroencephalography, MRI, and

blood tests.

o When the pervasive development

disorder is diagnosed, the diagnosis

must be narrowed to one of five

126 Pediatric conditions Hand notes

types, which is achieved by using

pre-established criteria of DSM,

which outlines the major differences

between the types.

o For example, for childhood

disintegrative disorder confirmed,

the symptoms must be preceded by

at least two years of normal

development and the beginning of

the decline and regression must

occur before the age of 10.

Treatment for Pervasive Development

Disorder

Specifically for PDD treatment will

be determined by your doctor based

on your child:

• your child's age, overall health, and

medical history the extent of disorder

type of disorder

Your child's tolerance for specific

therapy or medical expectations for

the course disorder

• your opinion or preference

Individual treatment plan based on

the symptoms of each child and the

severity. Multi-disciplinary approach

to treatment used to meet the

individual needs of each child.

Treatment includes:

speech therapy

occupational therapy

• social skills training (to help

children learn to perform activities of

daily living, or ADL, and how to

communicate and connect with

others)

• Behavioral therapy

Treatment:

Conventional

Treatment for children with

Pervasive Development Disorder

is limited.

The main treatment is through a

structured program of education

and very personal. Social skills

training and psychotherapy can

be helpful. Treatment may also

include physical and

occupational therapy.

There is no specific medication

for the PDD. When medications

are used it is to target specific

symptoms such as agitation,

emotional instability, and self-

injury.

Treatment:

Alternative

Here is a list of some commonly

used alternative treatment for

PDD. There are many good

anecdotes supporting the

technique, but they never

supported by any solid research.

Facilitate communication

This is a technique that

encourages people with

communication disabilities to

express themselves. A therapist

helps children spell words using

127 Pediatric conditions Hand notes

the keyboard. Children initiates

the movement while the therapist

provides physical support.

Sensory Integration Therapy

Therapy is directed towards

improving the sensory stimulus

of the children.

Lovaas Method

It was developed by psychologist

Ivar Lovaas at UCLA. It is an

intensive intervention program

for preschool age of autistic

children. It uses specific

techniques of behavior therapy.

Therapy usually consists of 4 to 6

hours a day of one on one of

training, 5 to 7 days a week.

About half the children involved

in this program to make

significant progress.

Vitamin Therapy

There are anecdotal reports that

vitamin B6 and magnesium help

children with autism. Both of

these nutrients involved in the

metabolism of serotonin.

References

http://www.utoronto.ca/kids/pdd.htm

l

http://addadhdadvances.com/PDD.ht

ml

http://www.humanillnesses.com/Beh

avioral-Health-Ob-Sea/Pervasive-

Developmental-Disorders.html

http://www.minddisorders.com/Ob-

Ps/Pervasive-developmental-

disorders.html

http://www.healthofchildren.com/P/P

ervasive-Developmental-

Disorders.html

http://medical-

dictionary.thefreedictionary.com/per

vasive+developmental+disorder

http://www.nichcy.org/wp-

content/uploads/docs/fs20.pdf

http://www.mamashealth.com/menta

l/pdd.asp

http://www.yalemedicalgroup.org/st

w/Page.asp?PageID=STW026935

128 Pediatric conditions Hand notes

Autism Spectrum Disorder

Introduction

1. The term autism spectrum describes

a range of neurodevelopmental

conditions, usually present from

early childhood and persisting

through life, which are associated

with difficulties in social

functioning, communication and

behaviour.

2. Autism spectrum conditions also

include Asperger Syndrome.

3. Most recent reviews estimate a

prevalence of one to two cases per

1000 people for autism, and about

six per 1000 for Autism Spectrum

Disorder, with Autism Spectrum

Disorder averaging a 4.3:1 male-to-

female ratio.

4. The number of people known to have

autism has increased dramatically

since the 1980s, at least partly due to

changes in diagnostic practice, the

question of whether actual

prevalence has increased is

unresolved.

5. Autism affects many parts of the

brain, how this occurs is poorly

understood.

6. Parents usually notice signs in the

first two years of their child's life.

Early behavioral or cognitive

intervention can help children gain

self-care, social, and communication

skills.

DEFINITION

1. Autism is a pervasive developmental

disorder. Its symptoms include

differences and disabilities in many

areas including social

communication skills, fine and gross

motor skills, and sometimes

intellectual skills. It appears in the

first 2 or 3 years of life.

2. The autism spectrum disorders are

more common in the pediatric

population than are some better

known disorders such as diabetes,

spinal bifida, or Down syndrome

3. All children with ASD demonstrate

deficits in social interaction, verbal

and nonverbal communication, and

repetitive behaviors or interests.

4. In addition, they will often have

unusual responses to sensory

experiences, such as certain sounds

or the way objects look.

5. Each of these symptoms runs the

gamut from mild to severe. They will

present in each individual child

differently.

6. For instance, a child may have little

trouble learning to read but exhibit

extremely poor social interaction.

Each child will display

communication, social, and

behavioral patterns that are

individual but fit into the overall

diagnosis of Autism Spectrum

Disorder (ASD).

129 Pediatric conditions Hand notes

Types

There are four main sub-types of autism

spectrum disorder

1. Autism, also known as autistic

disorder, childhood autism, early

infantile autism, Kanner‘s syndrome

or infantile psychosis.

2. Asperger syndrome, also known as

Asperger‘s disorder or simply

Asperger‘s.

3. Childhood Disintegrative Disorder,

also known as CDD, dementia

infantalis, disintegrative psychosis or

Heller‘s syndrome.

4. Pervasive Developmental Disorder

(Not Otherwise Specified), also

known as PDD (NOS) or atypical

autism.

Autism (Autistic Disorder)

1. Each person with autism is a unique

individual, with his or her own

strengths and weaknesses.

2. Some people with autism have

extremely good memories or are

good at paying attention to detail.

3. However most people with autism

also find it difficult to talk to other

people or to make friends. Some may

not even be able to talk at all.

4. People with autism tend to have poor

coordination and concentration and

they usually have a limited range of

interests. And they may do things or

say things over and over again.

5. Some people with autism have other

disabling conditions, such as a

learning disability or epilepsy.

Asperger syndrome

1. People with Asperger syndrome have

difficulties with social interactions,

social communications and

imagination – sometimes known as

the triad of impairments. They also

demonstrate a narrow, repetitive

range of activities.

2. However each person with Asperger

syndrome is a unique individual,

with his or her own strengths and

weaknesses.

Childhood Disintegrative Disorder

1. It is also known as CDD, dementia

infantalis, disintegrative psychosis or

Heller‘s syndrome.

2. Children with CDD appear to

develop normally until the age of

two.

3. After that they go backwards, losing

many of the skills they had before,

such as the ability to walk or talk.

4. They also share some of the

symptoms of people with autism. For

example, they may have difficulty

with social interaction,

communication, repetitive behaviors

or interests.

Pervasive Developmental Disorder (Not

Otherwise Specified)

1. It is used to describe people who

don‘t fit neatly into one of the

specific kinds of Autism Spectrum

Disorder, such

as Autism or Asperger syndrome

2. Individuals with this condition are

more likely to have other conditions

such as epilepsy.

130 Pediatric conditions Hand notes

3. There is no cure for this condition

but there are some interventions

which can help decrease the

symptoms.

4. There are also some interventions

which can help with related

problems, such as anxiety or self

harm.

Causes

Although autism is the result of a neurologic

abnormality, the cause of these problems

with the nervous system is unknown in most

cases. Research findings indicate a strong

genetic component. Most likely,

environmental, immunologic, and metabolic

factors also influence the development of the

disorder.

1. There is probably no single gene or

genetic defect that is responsible for

autism. Researchers suspect that

there are a number of different genes

that, when combined together,

increase the risk of getting autism.

2. In some children, autism is linked to

an underlying medical condition.

Examples include metabolic

disorders (untreated

phenylketonuria), congenital

infections (rubella, cytomegalovirus

,toxoplasmosis), genetic disorders

(fragile X syndrome, tuberous

sclerosis), developmental brain

abnormalities (microcephaly,

macrocephaly, cerebral dysgenesis),

and neurologic disorders acquired

after birth (lead

encephalopathy, bacterial

meningitis).

3. Environmental factors and

exposures may interact with genetic

factors to cause an increased risk of

autism in some families.

4. Emotional trauma: Some believed

that emotional trauma at an early

age, especially bad parenting, was to

blame.

5. Vaccines: Although the mercury

preservative used in

some vaccines is known to be

neurotoxic, the most recent research

on this subject does not suggest a

specific link between vaccines and

autism spectrum disorder.

Signs and symptoms

In both children and adults, the signs and

symptoms of the autism spectrum disorders

include problems with social skills, speech

and language, and restricted activities and

interests.

Social skills

Basic social interaction can be difficult for

children with autism spectrum disorders.

Symptoms may include:

Unusual or inappropriate body

language, gestures, and facial

expressions

Lack of interest in other people or

in sharing interests or

achievements

Unlikely to approach others or to

pursue social interaction, comes

across as aloof and detached,

prefers to be alone.

131 Pediatric conditions Hand notes

Difficulty understanding other

people‘s feelings, reactions, and

nonverbal cues.

Resistance to being touched.

Difficulty or failure to make

friends with children the same age.

Speech and language

Problems with speech and language

comprehension are a telltale sign of the

autism spectrum disorders. Symptoms may

include:

Delay in learning how to speak

(after the age of 2) or doesn‘t talk

at all.

Speaking in an abnormal tone of

voice, or with an odd rhythm or

pitch.

Repeating words or phrases over

and over without communicative

intent.

Trouble starting a conversation or

keeping it going.

Difficulty communicating needs

or desires.

Doesn‘t understand simple

statements or questions.

Taking what is said too literally,

missing humor, irony, and

sarcasm.

Restricted behavior and play

Children with autism spectrum disorders are

often restricted, rigid, and even obsessive in

their behaviors, activities, and interests.

Symptoms may include:

Repetitive body movements (hand

flapping, rocking, spinning);

moving constantly.

Obsessive attachment to unusual

objects (rubber bands, keys, light

switches).

Preoccupation with a specific

topic of interest, often involving

numbers or symbols (maps,

license plates, sports statistics).

A strong need for sameness, order,

and routines (e.g. lines up toys,

follows a rigid schedule). Gets

upset by change in their routine or

environment.

Clumsiness, abnormal posture, or

odd ways of moving.

Fascinated by spinning objects,

moving pieces, or parts of toys

(e.g. spinning the wheels on a race

car, instead of playing with the

whole car).

Investigation

There is no lab test or X-ray that can

confirm the diagnosis of autism. The

diagnosis of autism is based on clinical

judgment regarding observations of the

individual's behavior. Information from

family members and other observers is of

primary importance in making the diagnosis;

however, the pediatrician may order tests to

rule out other conditions that might be

confused with autism, such as mental

retardation, metabolic or genetic diseases, or

deafness.

A single visit with the pediatrician is not

enough to establish the diagnosis of autism

spectrum disorder.

1. The pediatrician observes the child

and may do a simple screening test

132 Pediatric conditions Hand notes

to see if a developmental problem

may be present. Screening tests do

not diagnose autism. Done in the

office, they are simple tests that

indicate a problem may exist. They

usually involve simply observing

specific behaviors (for very young

children) or how a child responds to

simple commands or questions (for

older children).

2. If the pediatrician believes that

further evaluation is necessary, he

or she will refer the child to a

professional who specializes in

developmental disorders. This

specialist may be a developmental

pediatrician, a child psychiatrist, a

pediatric neurologist, or a child

psychologist.

3. Other professionals, such as speech

and language pathologists,

audiologists (specialists in testing

hearing), occupational therapists,

physical therapists, and social

workers, may be involved in the

evaluation process.

4. The comprehensive evaluation of a

child with autism might include:

o obtaining complete medical and

family history

o physical exam

o formal audiology evaluation

o selected medical or lab tests on

an individual basis (for

example, lead levels, genetic

tests, metabolic tests,

electroencephalogram)

o speech, language, and

communication assessment

o cognitive and behavioral

assessments (focus on social

skills and relationships,

problem behaviors, motivation

and reinforcement, sensory

functioning, and self-

regulation)

o academic assessment

(educational functioning,

learning style).

Medical Management

A pediatrician will refer the caregiver and

the child to a specialist in developmental

disorders for the assessment. Some people

may want to have this specialist treat their

child's condition, but they are free to seek

treatment elsewhere.

There is no standard treatment for autism,

and different professionals have different

philosophies and practices in caring for

their patients.

You may want to talk to more than one

specialist to find the one with whom you

feel most comfortable.

Ask family members, friends, and the

health care practitioner to obtain referrals.

Call autism groups or check the Internet

for referral services.

When seeking a specialist to treat a child's

autism, the opportunity should be available

to ask questions and discuss the treatments

available to the child. Be aware of all the

options so that an informed decision can be

made.

A reputable specialist will present each

type of treatment, provide the pros and

cons, and make recommendations based

133 Pediatric conditions Hand notes

on published treatment guidelines and his

or her own experience.

The decision of which treatment to

pursue is made with this specialist (with

input from other members of the

professional care team) and family

members, but the decision is ultimately

the caregivers'.

Be certain to understand exactly what

will be done and why, and what can be

expected from the choices.

There is no cure for autism, nor is there a

standard therapy that works for all people

with autism. A number of different

treatment approaches have evolved over

time as we have learned more about autism.

Different approaches work for different

people. Accepted interventions may work

for some and not for others.

Different professionals, each with

excellent credentials and experience, may

disagree about what is the best approach

for the child.

Treatment strategies used in autism

spectrum disorder include behavioral,

educational, biomedical, and

complementary therapies. Some of these

are supported by scientific studies, while

others are not. It is important to discuss

and consider the research support for the

treatments chosen.

REFERENCES

1. http://www.researchautism.net/pages

/autism_autistic_asperger_spectrum/

autism_introduction

2. http://www.autism-help.org/

3. http://autism.about.com/od/autismter

ms/f/defautism.htm

4. http://www.nimh.nih.gov/health/publ

ications/autism/complete-

index.shtml

5. http://www.researchautism.net/autis

m.ikml

http://www.emedicinehealth.com/aut

ism/page2_em.htm#Autism Causes

6. http://www.helpguide.org/mental/aut

ism_spectrum.htm#signs

7.

http://www.emedicinehealth.com/aut

ism/page7_em.htm#Autism

Treatment

134 Pediatric conditions Hand notes

Attention deficit disorder

(ADD)

Definition

Attention deficit disorder (ADD) is a

biologically based condition causing a

persistent pattern of difficulties resulting in

one or more of the following behaviours :

1. Inattention

2. Hyperactivity

3. Impulsivity

Inattention

o Difficulty attending or focusing on a

specific task.

o May become distracted within a

matter of minutes.

o Difficulties with staying organized.

o Keeping track of time,completing

task and making careless error.

Hyperactivity

o Difficulty inhibiting behaviour.

o In constant motion.

o May engage in excessive fiddling,

leg swinging and squirming in their

chair.

Impulsivity

o Difficulty controlling impulse.

o Do not think before act.

o Say and do whatever comes into

mind without thinking about the

consequences.

o Might say something inappropriate

and regret it later.

o Difficulty waiting for their turn in

line.

Attention deficit disorder(ADD) is

sometimes known as hyperkinetic

disorder.

Types

There are 6 types of ADD :

1) ADDD(Inattentive ADD or

Attention Deficit Daydreaming

Disorder)

2) ADOD (Overfocussed ADD or

Attention Deficit Overfocussed

Disorder)

3) ADAD(Temporal Lobe ADD or

Attention Deficit Aggravated

Disorder)

4) ADLD(Limbic ADD or Attention

Deficit Low or Depressive Disorder)

5) ADAD++(Ring of fire ADD or

ATTENTION Deficit Aggravated++

Disorder)

6) Classic ADD

ADDD (INATTENTIVE ADD OR

ATTENTION DEFICIT DAYDREAMING

DISORDER)

Poor concentration .

Poor tendency to Daydreaming.

Present around 50% of females with

ADD but less in males.

Respond well to the Stimulants

Dexamphetamin,Ritalin,‖antidepress

ants‖-mirtazapine and fluvoxamine.

135 Pediatric conditions Hand notes

ADOD (OVERFOCUSSED ADD OR

ATTENTION DEFICIT OVERFOCUSSED

DISORDER)

Often focuses excessively on one

particular activity ,to the neglect of most

other things.

Feel distressed or irritable whenever

they have to give their attention from

what they are focussing on.

Responds well to stimulant type

―antidepressants‖-venlafaxine XR or

fluoxetine.

ADAD (TEMPORAL LOBE ADD OR

ATTENTION DEFICIT AGGRAVATED

DISORDER)

Special features include

irritability,anger,aggravation,rage

and violence.

Associated with a malfunction of 1

or both of temporal lobe of brain that

causes irritability.

Often associated with déjà vu(feeling

that they have been in places before

they really have been there).

Unusually poor memory.

ADLD (LIMBIC ADD OR ATTENTION

DEFICIT LOW OR DEPRESSION

DISORDER)

Moodliness,pessimism,recurring

negative thinking,low energy,low

interest and low self esteem.

Stimulant type‖antidepressants‖

work well-Noradrenalin and

dopamine.

ADAD++(RING OF FIRE ADD OR

ATTENTION DEFICIT

AGGRAVATED++ DISORDER)

Extreme

sensitivity,irritability,distractibility,a

ggravation,rage,aggression and

violence due to overactivity in

several parts of brain.

Patient very distressed.

Need immediate treatment with

anticonvulsant.

CLASSIC ADD

Inattentive

Distractible

Disorganized

Perhaps hyperactive

Restless

Impulsive

Clinical Presentation

Clinical presentation of ADD in adults

:

Fitgetiness and squirming, rarely

gross hyperavtivity and often

manifest.

Impulsivity.

Inattention for ―boring‖ activities.

136 Pediatric conditions Hand notes

Waking slowly and difficulty in the

morning unless unusually

challenged.

Falling asleep with difficulty until

overwhelmingly tired.

Spatial.

Emotional outburstwhich may

include child abuse, screaming or

hitting others.

Bedwetting is uncommon but can be

a problem for adults.

Unexplained severe and persistent

emotional negativity without obvious

cause.

Clinical presentation of ADD in

children :

Hyperactivity, fitgetiness or

squirming.

Impulsitivity(difficulty staying

focused on an immediate task).

Inattention for unexciting mental

activity.

Waking slowly especially in young

children.

Falling asleep slowly with difficult at

night.

Spatial dyslexia.

Episodic explosiveness(emotional

outburst).

Bedwetting due to primary nocturnal

enuresis.

Unexplained and unreasonable

emotional negativity.

Investigation

ADD SYMPTOMS-TREATMENT

A child must have conditions at least 6 of

the following symptoms for at least 3

months plus to extent that is unusual for

their age and level of intelligence.

Cannot pay attention to detail or

makes careless errors.

Cannot finish tasks or continue

paying attention in activities or

procedure.

Cannot concentrate to listen to what

is said to them.

Fails to follow through instructions

or to finish homework.

Disorganized about tasks and

activities.

Avoids tasks like homework that

require sustained mental effort or

long task.

Loses things unnecessary for certain

tasks or activities such as pencils,

books or toys.

Easily distracted from any activities.

Forgetful in the course of activities

or games.

ADD- ALTERNATIVE MEDICINE

ADD child must have conditions of at l

east 3 of the following symptoms for at least

3 months to an extent that is unusual for

their age.

137 Pediatric conditions Hand notes

Runs around, excessively climbs or

behave very busy all day long over

things they are always busy.

Making their own special noise in

playing ,or has difficulty in a quiet

leisure activities.

Leaves seat when classes is in

continue of teaching or in other

conditions where remaining seated is

normal.

Always busy with hands or feet or

squirms on seat.

One of the following symptoms must have

persisted at least for 3 months to an extent

that is unusual for their age and level of

intelligence:

Answered or speak before the

questions have been completed.

Cannot wait for their turns in games

or procedure.

Talks excessively without correct

conditions and situation.

Intrudes or likes to jump into others

conversation or games before their

turn.

Diagnosis

There is no single diagnosis test for ADD.

So,the information below need to be

gathered.

Medical history

Past psychiatric history

Educational history

MEDICAL HISTORY

Difficulties and risks in pregnancy

and during birth-if the mother was in

poor health or drank alcohol or

complicated labour.

Several medical conditions such as

fragile-X syndrome and fetal alcohol

syndrome.

Accidents,operation,cronic medical

conditions such as epilepsy and

asthma.

Overdose folic acid during

pregnancy.

PAST PHYCHIATRIC HISTORY

Enquiring any mental health

problems can help rule out

depression or anxiety behind the

symptoms.

EDUCATIONAL HISTORY

The level of their ability.

How their function within their peer

group.

Any behaviour difficulties such as

suspensions or exclusion.

Causes

ADD has a large genetic component.It

caused by a neuro-chemical disconnection

between 2 parts of the frontal lobes inside

the brain.Then,it affects the central nervous

system‘s development and cause impairment

in the ability to concentrate.

Cause of ADD :

138 Pediatric conditions Hand notes

1) ORGANIC BRAIN DAMAGE

2) GENETICS

3) ENVIRONMENTAL FACTORS

4) FAMILY FACTORS

ORGANIC BRAIN DAMAGE

Caused by injury,oxygen

deprivation, prenatal complication or

infection during birth.

Most children with ADD do not

show ‗hard‘ signs of brain damage.

Damage may only be the case in

10% or less of this population.

GENETICS

10% of ADD parents are hyperactive

and monozygotic twins.

Parents have a higher correlation of

them both exhibiting the disorder

dizygotic twins.

ENVIRONMENTAL FACTORS

Artificial colours in various food

stuffs.

Lead levels in the atmosphere.

Environmental pollution.

Fluorescent light levels have all been

implicated.

FAMILY FACTORS

Mothers of children with ADD tend

to be critical,disapproving,not

affectionate and may use severe

punishment.

The family not giving any

opportunity to process and

manipulate environmental stimuli for

the children(at an early stage)

Medical Management

Treatment of ADD is not curable. The best

treatment for ADD is a combination of :

Medication.

Behaviour modification strategies.

Professional counselling.

Drug therapy is an important component of

treating ADD.

A class of drug called psychostimulants or

stimulants have been used to effectively

treat ADD for years.

Stimulant drugs to treat ADD include :

o Adderall and Adderall XR.

o Concerta.

o Dexedrine.

o Focalin and Focalin XR.

o Metadate CD and Metadate ER.

o Methylin.

o Ritalin,Ritalin LA.

o Vyvanse.

o Desoxyn.

NOTE THAT: Adderall XR, Concerta,

Vyvanse and Focalin XR are FDA-approved

for adults.

Nonstimulant Drugs.

139 Pediatric conditions Hand notes

In cases where stimulants don‘t work or cause

unpleasant side effects,nonstimulants might

help. Types of nonstimulants drugs :

o Strattera.

o Intuniv.

Both medication improve concentration and

impulse control.

When stimulant and nonstimulants are not

effective or well-tolerated,several other

medications are available to treat ADD

which are :

o Pamelar or other tricyclic

antidepressants.

o Catapres or Tenex.

o Wellbutrin.

o Effexor.

Conclusion

In conclusion, Attention Deficit Disorder

provides many blessings as well as the

difficulties mentioned. It tends toward

creativity and is unique problem solvers.

The greatest intervention of all that an

authority figure can provide is that of role

modelling.For instance, telling the child

where and how they plan to channel it

constructively. ADD is not a curse, it is a

blessing in that it encourages all of us to

think about our motivations. Sharing of

the self is the most precious gift of all.

REFERENCES

http://www.add101.com/types.htm

http://www.Idpride.net/addexplained.htm

http://phychcentral.com/lib2007

http://www.addmtc.com/clinical

http://add.about.com

http://www.webmd.com/add

Thomas E. Brown (2005): Attention Deficit

Disorder: The Unfocused Mind in Children

and Adults. Yale University Press.

140 Pediatric conditions Hand notes

Attention Deficit

Hyperactivity Disorder

(ADHD)

Definition

Attention deficit hyperactivity

disorder (ADHD) is one of the most

childhood chronic disorders and can

continue through adolescent and adulthood.

It is categorized as developmentally

inappropriate with abnormally high levels of

hyperactivity, impulsivity and inattentive.

ADHD behaviors are hard to separate from

typical childhood behaviors. These

symptoms will lead to difficulty in social

participation, academic and emotional.

After a diagnosis is done, ADHD

may be associated with neurological,

learning disabilities and significant

behavioral. A therapist also may suggests

the use of medication, behavioral therapy

and modifications in their daily life

activities. ADHD once considered an acute

disorder has been reconceptualized as a

chronic, life-spanning disorder (American

Academy of Pediatrics, 2001).

Types Of ADHD

ADHD has three subtypes. One of

them is predominantly inattentive.

Children with this subtype are unlikely to

act out or have difficulties getting along

with other children. They may sit quietly,

but they are not focusing to what they are

doing. Therefore, the child may be

overlooked, but parents and teachers may

not notice that he or she has ADHD.

Other types are predominantly

hyperactive and impulsive and also

combination of the two types stated before.

Predominantly hyperactive and impulsive,

we can classified it when fewer than six

symptoms appear, inattention may still be

present in some degree. Most children have

combination type of ADHD.

Some medical researchers find that

40% to 60% of ADHD children will have

symptoms persist into adulthood. Children

when they are diagnosed as ADHD, they

must be out of the normal range for a child's

age and development.

Causes

The cause of ADHD has not been

fully defined by scientists, though many

research considered that genes play a large

role, ADHD probably results from a

combination factors.

One of the causes is genes. Based

on some international studies of identical

twins and siblings showed that ADHD

always occur in families. If one identical

twin is diagnosed with ADHD, there is at

92% probability of diagnosis with the twin

sibling. When comparing with non-identical

twin sibling, the probability falls to 33%.

Overall population incidence is 8% to 10%

ADHD children who carry a specific type of

certain gene, have thinner brain tissue in the

areas of the brain related with attention.

However, when the children grow up, the

141 Pediatric conditions Hand notes

brain will develop into the normal thickness

and their ADHD symptoms will improve.

Besides, the cause of ADHD is

environmental factor. There is a potential

link between cigarette smoking and alcohol

or drugs use during pregnancy with ADHD

in children. Alcohol and drug abuse will

reduce the activity of neurons that produce

neurotransmitters. Plus, preschoolers may

have a high risk of developing ADHD when

they are exposed to high level of leads

which can be found in old building or

plumbing fixtures.

Other than that, sugar is the cause

of developing ADHD among children. More

research discounts the theory than supports

it which state that refined sugar make

symptoms worse. In a study, the researchers

gave the sugar substitute aspartame,

Nutrasweet to the children who were

considered by their mother as sugar-

sensitive. The mothers who thought their

children were given sugar found that their

children more hyperactive than others.

However, the mothers who thought their

children were given aspartame found that

their children act normally. Although sugar

is the popular factor in causing ADHD, there

is no reliable proof of this.

Furthermore, the food additives

also is one of the factor of developing

ADHD. Food additives are the substances

added to the food to make it more attractive

and tasty such as artificial coloring and food

preservatives. Based on recent British

research, they found that there has a relation

between the intake of food additives and the

increase in activity.

Brain injuries also related to

ADHD, but this has not been conclusively

confirmed by the researchers. Children who

have a brain injury may show some

behaviors similar to ADHD. However, only

minority of the children with ADHD

suffered a traumatic brain inj

Symptoms Of ADHD

Key behaviors of ADHD are severe

inattention, hyperactive and impulsive in the

children. To be confirmed with the disorder,

a child must have symptoms for six more

months and to a degree that is over than

other children of the same age.

Children who have symptoms

in inattention may:

1. Be easily distracted, forget

things, and often switch from

one activity to another

2. Difficult to focus on one

thing.

3. The child always fails to give

attention to details or makes

careless mistakes in school

works and other activities.

4. Difficult to organize tasks

and activities.

5. Easily feel bored only in a

few minutes, unless they are

doing something enjoyable.

6. Does not seem to listen when

spoken directly.

7. Dislikes tasks that require

sustained mental effort such

as school works.

8. Does not follow through on

instruction

142 Pediatric conditions Hand notes

9. Become easily confused,

more slowly and daydream.

10. Hard to process data as

accurately and quickly as

others.

Symptoms of hyperactivity.

1. Squirm and fidgets in

their seats.

2. Be constantly in

motion.

3. Has difficulty in

playing quietly.

4. Leaves seat when

remaining seated is

expected.

5. Often runs and climbs

excessively in an

inappropriate

situation.

Children who have symptoms

of impulsivity may:

1. Difficult in awaiting

turn.

2. Always be in

impatient.

3. The child frequently

blurts out answers

before questions have

been completed.

4. Intrudes and

interrupts others.

ADHD can be mistaken for other

problems by parents and teachers. They can

miss the fact that the children who have

symptoms of inattention have ADHD

because they are less likely to act out and

quiet. Actually, the children are not focusing

on what they are doing compared to others

who tend to have social problems. However,

not the only children with symptoms of

inattention can be missed out, but adults also

may think the children with the impulsive

and hyperactive behaviors just have

disciplinary and emotional problems.

Signs and Tests

The American Academy of Pediatrics

(AAP) has issued guidelines to diagnose the

children who are labeled with ADHD. The

diagnosis is based on very specific

symptoms:

1. The children should have at least six

symptoms of inattention or six of

combination of impulsivity and

hyperactivity, with some symptoms

present before age seven.

2. The symptoms must be present for at

least six months.

3. The symptoms must be severe

enough to cause significant

difficulties in home, school, and in

relationships with friends.

The older child should have an evaluation

by a doctor if the symptoms of ADHD are

present. The evaluation is including:

1. Parent and teacher questionnaires.

2. Psychological evaluation of the child

and family including psychological

and IQ testing.

3. Complete developmental, mental,

physical and psychosocial

examination, and nutritional.

143 Pediatric conditions Hand notes

HOW ADHD IS DIAGNOSED?

Normally pediatrician and specialist will

determine if a child:

1. Has any infected middle ear that is

causing hearing problems?

2. Has any learning disabilities?

3. Has any medical problems related to

thinking abilities and behavior?

4. Has anxiety or depression or other

psychiatric problems?

5. Has any undetected hearing vision

problems?

6. Has been affected by a sudden

change like the death of a family

member?

Specialists also will ask the parents or

teachers to gather the information about the

children after have checked school and

medical records for clues.

1. Are the behaviors excessive and long

term, and do they affect all aspects of

child‘s life?

2. Do they happen often in this child

compared with their friends?

3. Are their behaviors a continuous

problem or response in a temporary

situation?

4. Do the behaviors appear in certain

places or only in one place?

Common Associated Features Of ADHD

1. Defiant, aggressive, and antisocial

behaviors.

2. Problems with social relationships.

3. IQ under 100 in majority of the

children.

4. Specific learning problem such as

spelling and reading.

5. A history of specific developmental

delay like in language acquisition.

6. Clumsiness and neurodevelopmental

immaturities.

Treatment/Medical Management

There are guidelines produced by American

Academy of Pediatrics (AAP), to treat

ADHD:

1. Set specific, appropriate target

goals for therapy.

2. Use medication and behavior

therapy.

3. When treatment has not achieved

the target goals, reevaluate the

diagnosis and how well the

treatment plan has been

implemented.

4. Always keep in touch with the

doctor to check on goals, results,

and any side effects of

medications. During the

assessment, information should be

gathered from parents, teachers,

and the child.

EDUCATION

The family and school should

explain more about the nature

of disorder to the children.

Children with ADHD,

normally, often come in

criticism and little praise.

However, it does not the

parents or the children‘s

fault. As parents, they should

144 Pediatric conditions Hand notes

be clear about their children‘s

unacceptable behaviors.

Both, teachers and parents

should reduce the chances of

child acquiring a behavioral

disorder as a key objective of

the treatment. All teaching

medium must follow up the

child‘s limited attention span

because they need special

learning unlike the other

normal kids.

MEDICATION

The popular type of

medication used for treating

ADHD is called a stimulant.

For majority of children,

ADHD medications reduce

hyperactivity and impulsivity

and improve their ability to

focus, work, and learn

besides may improve

physical coordination. The

age approved for the use of

drugs is 3-6 years and older.

They also have a calming

effect on children with

ADHD. The

psychostimulants used to

treat ADHD are:

- Amphethaine-

dextroamphetamine

(Adderall)

- Dexmethylphenidate

(Focalin)

- Dextroamphetamine

(Dexedrine, Dextrostat)

- Lisdexamfetamine

(Vyvanse)

- Methylphenidate (Ritalin,

Concerta, Metadate,

Daytrana)

- Atomexetine (Straterra)

The side effects of the usage

of stimulants are decreased

appetite, sleep problems,

anxiety, and irritability. Some

children also report

temporary stomachaches or

headaches. Most side effects

are minor and disappear over

time or if the dosage level is

lowered.

PSYCHOTHERAPY

Also known as behavioral

therapy, aims to help a child

change his behavior. Assists

the child in organizing tasks

or completing homework,

controlling the emotionally

difficult event, and help him

how to monitor his own

behavior. Therapists would

teach children social skills,

such as how to wait their

turn, share toys, ask for help,

or respond to teasing. For

parents, these are the tips to

help your child with ADHD:

a. Often communicate with the

child's teacher.

b. Keep a consistent daily

schedule, including regular

times for homework, meals,

and outdoor activities.

c. Make sure the child gets a

healthy diet with plenty of

fiber and basic nutrients.

145 Pediatric conditions Hand notes

d. Make sure the child gets

enough sleep.

e. Praise and reward their good

behavior.

f. Provide clear and consistent

rules for the child.

DIET

Parents must aware with their

child‘s diet. Do not give them

too much junk foods, sweets

and other creamy or sugar-

based product when they are

young. If not, their level of

hyperactivity will increase.

Additives are rarely the only

culprits; one or more natural

foods, such as milk and

wheat products or oranges,

are usually involved as well.

146 Pediatric conditions Hand notes

Conduct Disorder (CD)

Definition

Conduct disorder (CD) is a behavioral and

emotional disorder of childhood and

adolescence. Children with conduct disorder

act inappropriately, infringe on the rights of

others, and violate the behavioral

expectations of others. Conduct disorder

involves long-term (chronic) behavioral

problem.

Types

There are two types of conduct disorder:

Childhood onset

Prior to age 10

More likely to be male, few

girls develop childhood onset

Violent, more severely

impaired.

Adolescent onset

After age 10

More destructive

More even gender

distribution

Less severely impaired

Causes

This disease may be caused by the

following:

Poor parent-child relationship

The child maybe in little contact with

his/her parent. The parents maybe

too busy until neglected their

children. A disharmony family may

lead to poor parent-child

relationships.

Dysfunctional family

A dysfunctional home environment

can be another major contributor to

CD. An emotionally, physically or

sexually abusive home environment,

or parental substance abuse can

damage a child‘s perceptions of

himself and put him on a path toward

negative behavior.

Drug abuse or alcoholism in parents

Maternal smoking during pregnancy

may be linked to the development of

CD in boys. Animal and human

studies point out that nicotine can

have undesirable effects on babies.

Physical abuse

Children that physically abuse may

causes to CD.

Brain damage

Other conditions that may cause or

co-exist with CD include head

injury. When there are serious

problems during pregnancy, delivery

and the postnatal period.

Genetic defects

A family history of antisocial

personality disorder.

Clinical Presentation

Signs and symptoms

A physical examination and blood tests can

help rule out medical conditions that are

similar to conduct disorder.

Conduct disorder is often associated

with attention deficit disorder.

147 Pediatric conditions Hand notes

CD also can be an early sign of

depression or bipolar disorder.

Children with conduct disorder tend to be

impulsive, hard to control and not concerned

about the feelings of other people.

Symptoms may include:

Breaking rules without obvious

reason

Cruel or aggressive behavior toward

people or animals. For example:

bullying, fighting, using dangerous

weapons, forcing sexual activity and

stealing.

Failure to attend school (truancy-

beginning before age 13)

Heavy drinking or heavy illicit drug

use.

Intentionally setting fires

Lying to get a favor or avoid things

they have to do

Running away

Vandalizing or destroying property.

Children who exhibit these behaviors should

receive a comprehensive evaluation.

Many children with a conduct disorder may

have coexisting conditions such as mood

disorders, anxiety, PTSD, substance abuse,

ADHD, learning problems or thought

disorders which can also be treated.

Investigation

See your health care provider if your child:

Regularly gets in trouble

Has mood swings

Is bullying others or cruel to animals

Is being victimized

Seems to be overly aggressive

PROGNOSIS

Children who have severe of

frequent symptoms tend to have the

poorest outlook.

Follow-up studies of conduct

disordered children have shown a

high incidence of antisocial

personality disorder, affective

illnesses and chronic criminal

behavior later in life.

Treatment usually begins with a

comprehensive evaluation. This will include

a detailed medical history and psychological

testing.

A combination of treatment methods seems

more effective than single treatment.

Medical Management

Diagnosis

Conduct disorder is diagnosed and

treated by a number of social

workers, school counsellors,

psychiatrics and psychologists.

Genvine diagnosis may require

psychiatric expertise to rule out

conditions such as bipolar disorder

or ADHD.

A comprehensive evaluation of the

child should include interviews with

148 Pediatric conditions Hand notes

the child and parents, a full social

and medical history, a cognitive

evaluation and a psychiatric exam.

One or more clinical inventories or

scales may be used to assess the

child for conduct disorder.

Treatment

Parent management training

Many times treatment for conduct

disorder is family-focused. When

parents can participate fully, this

method helps parents to encourage

appropriate behaviors in their

children. Once the parent child

relationship smoothes out, many

children are better able to improve

their social and academic worlds in a

more productive manner.

Family therapy

Help families learn less defensive

ways of communicating with each

other. It can foster mutual support

and more effective problem solving

and conflict resolution within the

family.

Social skills training

This training is to enhance their

problem solving abilities. A child

can learn to identify problems,

recognize causation, appreciate

consequences and consider alternate

ways of handling difficult situations.

Individual psychotherapy

The youngster with conduct disorder

symptoms may be helped in figuring

out why he does what he does. As

the child grows older, the clinician

helps the child better understand his

motions and actions and how to deal

with both.

Medication

Lithium, a mood stabilizer, and

anticonulsants have also been shown

to reduce impulsive aggression.

Prevention

A supportive, nurturing and

structured home environment

is believed to be the best

defence against conduct

disorder.

Children with learning

disabilities or difficulties in

school should get immediate

and appropriate academic

assistance.

Addressing these problems

when they first appear helps

to prevent the frustration and

low self-esteem that may lead

to conduct disorder later on.

149 Pediatric conditions Hand notes

References

1. Nurcombe B. Oppositional defiant

disorder and conduct disorder. In

:Ebert MH, Loosen PT, Nurcombe

B, Leckman JF, eds. Current

Diagnosis & Treatment Psychiatric

2nd

ed. New York: McGraw Hill.

2. Thomas CR. Evidence-based practise

for conduct disorder symptoms. J

Am Acad Child Adolesc Psychiatric.

2006: 45: 109-114.

3. Whittinger NS. Clinical precursors

of adolescent conduct disorder in

children with attention-deficit /

hyperactivity disorder. J Am Acad

Child Adolesc psychiatric. 2007; 46:

179-187.

4. www.ncbi.nlm.nih.gov/pubmedhealt

h

5. http://emedicine.medscape.com

6. http://en.wikipedia.org/wiki/Conduct

_disorder

7. http://www.nmha.org/go/conduct

disorder

150 Pediatric conditions Hand notes

Learning Disabilities

Definition

sometimes called a learning

disorder or learning difficulty

including several disorders in which a

person has difficulty learning in a typical

manner

usually caused by an unknown factor or

factors that affects the brain's ability to

receive and process information

problematic for a person to learn as quickly

A child with a learning disability cannot try

harder, pay closer attention, or improve

motivation on their own; they need help to

learn how to do those things

Types of Learning Disabilities

Academic Skills Disorders

Reading disorder

Of all students with specific learning

disabilities, 70%-80% have deficits in

reading.

The term "Developmental Dyslexia" is often

used as a synonym for reading disability;

can affect any part of the reading process,

including difficulty with accurate or fluent

word recognition, or both, word decoding,

reading rate, prosody (oral reading with

expression), and reading comprehension.

used to be known as "word blindness."

phonemic awareness—the ability to break

up words into their component sounds, and

difficulty with matching letter combinations

to specific sounds (sound-symbol

correspondence).

Writing disorder

can also be called Dysphasia/Aphasia

include impairments in handwriting,

spelling, organization of ideas, and

composition.

The term "dysgraphia" is often used as an

overarching term for all disorders of written

expression.

Math disability

Sometimes called dyscalculia

can cause difficulties such as learning math

concepts (such as quantity, place value, and

time), difficulty memorizing math facts,

difficulty organizing numbers, and

understanding how problems are organized

on the page.

Dyscalculics are often referred to as having

poor "number sense".

Auditory processing disorder

Difficulties processing auditory information

include difficulty comprehending more than

one task at a time and a relatively stronger

ability to learn visually.

Developmental Speech and Language

Disorders

Nonverbal learning disability

often manifest in motor clumsiness, poor

visual-spatial skills, problematic social

151 Pediatric conditions Hand notes

relationships, difficulty with math, and poor

organizational skills.

often have specific strengths in the verbal

domains, including early speech, large

vocabulary, early reading and spelling skills,

excellent rote-memory and auditory

retention, and eloquent self-expression.

Developmental Articulation Disorder

may have trouble controlling their rate of

speech.

Or they may lag behind playmates in

learning to make speech sounds.

For example, Wallace at age 6 still said

"wabbit" instead of "rabbit" and "thwim" for

"swim."

They appear in at least 10 percent of

children younger than age 8.

Articulation disorders can often be outgrown

or successfully treated with speech therapy.

Developmental Receptive Language

Disorder

Some people have trouble understanding

certain aspects of speech.

their brains are set to a different frequency

and the reception is poor.

Their hearing is fine, but they can't make

sense of certain sounds, words, or sentences

they hear.

many people with receptive language

disorders also have an expressive language

disability.

"Other" Learning Disabilities

Attention Disorders

Some children and adults who have attention

disorders appear to daydream excessively.

In a large proportion of affected children--

mostly boys--the attention deficit is

accompanied by hyperactivity.

These problems are usually hard to miss

because of their constant motion and

explosive energy, hyperactive children often

get into trouble with parents, teachers, and

peers.

Causes

Errors in Fetal Brain Development

· Throughout pregnancy, the brain

development is vulnerable to disruptions.

· If the disruption occurs early, the

fetus may die, or the infant may be born

with widespread disabilities and possibly

mental retardation.

· If the disruption occurs later, when

the cells are becoming specialized and

moving into place, it may leave errors in the

cell makeup, location, or connections.

Genetic Factors

· Learning disabilities tend to run in

families indicates that there may be a

genetic link.

· Parent who has a writing disorder

may have a child with an expressive

language disorder.

· Some learning difficulties may

actually stem from the family environment.

· For example, parents who have

expressive language disorders might talk

less to their children. In such cases, the child

lacks a good model for acquiring language.

152 Pediatric conditions Hand notes

Tobacco, Alcohol, and Other Drug Use

· A mother's use of cigarettes, alcohol,

or other drugs during pregnancy may have

damaging effects on the unborn child.

· Alcohol also may be dangerous to the

fetus' developing brain. It appears that

alcohol may distort the developing neurons.

· Heavy alcohol use during pregnancy

has been linked to fetal alcohol syndrome, a

condition that can lead to low birth weigh,

intellectual impairment, hyperactivity, and

certain physical defects.

· Any alcohol use during pregnancy

may influence the child's development

· Drugs such as cocaine, especially in

its smokable form known as crack, seem to

affect the normal development of brain

receptors.

Problems During Pregnancy or Delivery

· Involve complications during

pregnancy.

· This type of disruption seems to cause

newly formed brain cells to settle in the

wrong part of the brain.

· Or during delivery, the umbilical cord

may become twisted and temporarily cut off

oxygen to the fetus.

Clinical Investigation

The symptoms and signs of a learning

disabilities

Motor difficulties and learning disabilities

Signs that the child might have a motor

coordination disability include problems

with physical abilities that require hand–eye

coordination, like holding a pencil or

buttoning a shirt.

Math difficulties and learning disabilities

A child with a math–based learning disorder

may struggle with memorization and

organization of numbers, operation signs,

and number ―facts‖ (like 5+5=10 or

5x5=25).

might also have trouble with counting

principles (such as counting by 2s or

counting by 5s) or have difficulty telling

time.

Language difficulties and learning

disabilities

Signs of a language–based learning disorder

involve problems with verbal language

skills, such as the ability to retell a story and

the fluency of speech, as well as the ability

to understand the meaning of words, parts of

speech and direction.

Reading difficulties and learning

disabilities

Reading comprehension problems occur

when there is an inability to grasp the

meaning of words, phrases, and paragraphs.

Signs of reading difficulty include problems

with:

letter and word recognition

understanding words and ideas

reading speed and fluency

general vocabulary skills

Writing difficulties and learning

disabilities

153 Pediatric conditions Hand notes

Symptoms of a written language learning

disability revolve around the act of writing

and include. They include problems with:

neatness and consistency of writing

accurately copying letters and words

spelling consistency

writing organization and coherence

Auditory Processing Disorder

Problems with reading, comprehension,

language

Visual Processing Disorder

Problems with reading, math, maps, charts,

symbols, pictures

Other characteristics that may be present

Performs differently from day to day

Responds inappropriately in many instances

Distractible, restless, impulsive

Says one thing, means another

Difficult to discipline

Doesn‘t adjust well to change

Difficulty listening and remembering

Difficulty telling time and knowing right

from left

Difficulty sounding out words

Reverses letters

Places letters in incorrect sequence

Difficulty understanding words or concepts

Delayed speech development; immature

speech

Investigation

The first step in diagnosing a learning

disability is ruling out vision or hearing

problems.

A person may then work with a psychologist

or learning specialist who will use specific

tests to help diagnose the disability.

Often, these can help pinpoint that person's

learning strengths and weaknesses in

addition to revealing a particular learning

disability.

Specialists trained to do psychological

testing and result interpretation

· Clinical psychologist

· School psychologist

· Educational psychologist

· Developmental psychologist

· Neuropsychologist

· Psychometrist

· Occupational therapist (tests sensory

disorders that can lead to learning problems)

· Speech and language therapist

Diagnosis

IQ-Achievement Discrepancy

· often identified by school

psychologists, clinical psychologists,

and neuropsychologists through a

combination of intelligence testing,

academic achievement testing, classroom

performance, and social interaction and

aptitude.

154 Pediatric conditions Hand notes

· Other areas of assessment may

include perception, cognition, memory,

attention, and language abilities.

· is used to determine whether a child's

academic performance is commensurate

with his or her cognitive ability.

· If a child's cognitive ability is much

higher than his or her academic

performance, the student is often diagnosed

with a learning disability.

Response to Intervention (RTI)

· a treatment-oriented diagnostic

process known as response to

intervention (RTI).

· Their performance can be closely

monitored to determine whether increasingly

intense intervention results in adequate

progress.

· Those who respond will not require

further intervention.

· Those who do not respond adequately

to regular classroom instruction are

considered "nonresponders."

· The process does not take into

account children's individual

neuropsychological factors such as

phonological awareness and memory, that

can help design instruction.

· RTI by design takes considerably

longer than established techniques, often

many months to find an appropriate tier of

intervention.

· it requires a strong intervention

program before students can be identified

with a learning disability.

· RTI is considered a regular education

initiative and is not driven by psychologists,

reading specialists, or special educators.

Assessment

· The most commonly used

comprehensive achievement tests include

o the Woodcock-Johnson III (WJ III),

o Weschler Individual Achievement Test II

(WIAT II)

o the Wide Range Achievement Test III

(WRAT III)

o the Stanford Achievement Test–10th

edition

· Assessments that measure multiple

domains of reading include

o Gray's Diagnostic Reading Tests–2nd

edition (GDRT II)

o the Stanford Diagnostic Reading

Assessment.

Assessments that measure reading sub skills

include

the Gray Oral Reading Test IV – Fourth

Edition (GORT IV)

Gray Silent Reading Test,

Comprehensive Test of Phonological

Processing (CTOPP)

Tests of Oral Reading and Comprehension

Skills (TORCS)

155 Pediatric conditions Hand notes

Test of Reading Comprehension 3 (TORC-

3)

Test of Word Reading Efficiency (TOWRE)

the Test of Reading Fluency

· The purpose of assessment is to

determine what is needed for intervention,

which also requires consideration of

contextual variables and whether there are

comorbid disorders that must also be

identified and treated, such as behavioural

issues or language delays.

Medical Management

1) Ritalin (methylphenidate), Dexedrine

(dextroamphetamine), and Cylert

(pemoline)

stimulants in the same category as "speed"

and "diet pills," they seldom make children

"high" or jitterier.

temporarily improve children's attention and

ability to focus

help children control their impulsiveness

and other hyperactive behaviors.

Shortly after taking the medication, they

become more able to focus their attention.

They become more ready to learn.

effective for 3 to 4 hours and move out of

the body within 12 hours.

2) Types of therapy that have not proven

effective in treating the majority of

children with learning disabilities or

attention disorders:

Megavitamins

Coloured lenses

Special diets

Sugar-free diets

Body stimulation or manipulation

3) Special equipment

Word processors with spell checkers and

dictionaries

Text-to-speech and speech-to-text programs

Talking calculators

Books on tape

4) Special Education

Prescribed hours in a resource room

Placement in a resource room

Enrollment in a special school for learning

disabled students

Individual Education Plan (IEP)

Educational therapy

5) Meet an Occupational therapy

Conclusion

Prognosis of learning disabilities

Learning disabilities can be lifelong

conditions.

In some people, several overlapping learning

disabilities may be apparent. Other people

may have a single, isolated learning problem

that has little impact on their lives.

References

http://www.medicinenet.com/learning_disab

ility/article.htm#tocb

http://www.helpguide.org/mental/learning_d

isabilities.htm

156 Pediatric conditions Hand notes

http://www.ldanatl.org/aboutld/teachers/und

erstanding/symptoms.asp

http://www.learninginfo.org/causes-

learning-disabilities.htm

www.learning-disabilities.org/learn3.html

http://en.wikipedia.org/wiki/Learning_disabi

lity

Lerner, Janet W. (2000). Learning

disabilities: theories, diagnosis, and

teaching strategies. Boston: Houghton

Mifflin. ISBN 0395961149.

Aaron, P.G. (1995). "Differential Diagnosis

of Reading Disabilities.". School Psychology

Review24 (3): 345–60. ISSN 0279-6015.

Patti L. Harrison; Flanagan, Dawn P.

(2005). Contemporary intellectual

assessment: theories, tests, and issues. New

York: Guilford Press. ISBN 1-59385-125-1.

Marcia A. Barnes; Fletcher, Jack; Fuchs,

Lynn (2007). Learning Disabilities: From

Identification to Intervention. New York:

The Guilford Press. ISBN 1-59385-370-X.

Finn, C.E., Rotherham A.J. & Hokanson

C.R. (2001). Rethinking Special Education

For A New Century. Progressive Policy

Institute

http://kidshealth.org/teen/diseases_condition

s/learning/learning_disabilities.html

1 Attached files|88KB

157 Pediatric conditions Hand notes

CHILDREN WITH

SENSORY DEFICIT

Deafness

DEFINITION

Partially or completely lacking in the

sense of hearing or loss the ability to

detect certain frequencies of sound.

Deafness can occur in only one ear

or both ears.

There are three primary types of

hearing loss:

Conductive hearing loss-

hearing loss caused by the

inability of the sound to reach

the inner ear. This can result

from outer or middle ear

problems such as ear

infection, excess wax or

swelling. This type of hearing

loss is most likely to respond

to medical or surgical

treatment.

Sensorineural hearing loss-

hearing loss caused by

disorders of the inner ear or

auditory nerve. This type of

loss is usually permanent. It

can be caused by hereditary

or congenital problems,

excess noise, old age,

medications, infections, such

as ear infections and

meningitis or from tumors

compressing the nerve of

hearing such as an acoustic

neuroma.

Mixed hearing loss- hearing

losses that are a combination

of both conductive and

sensorineural loss.

LEVEL OF HEARING LOSS

Mild deafness: 20-40 db

Moderate deafness: 41-70 db

Severe deafness: 71-95 db

Profound deafness: 95 db

PREVELANCE

Hearing loss occurs in approximately

1/2000 in live births.

Children who have hearing loss with

addition disability occur in

approximately 30/100.

CAUSES OF DEAFNESS

Genetic causes- may or may not be

part of a recognized genetic

syndrome such as Turner’s syndrome

and Klinefelter’s syndrome.

Intrauterine- congenital infections

such as rubella, toxoplasmosis and

maternal drugs such as alcohol,

cocaine and streptomycin and also

ototoxic drugs (medications that

damage ears) such as aspirin, quinine

and antibiotics.

Prenatal causes- prematurity or low

birth weight, low Apgar scores, birth

158 Pediatric conditions Hand notes

asphyxia, severe

hyperbilirubinaemia, and sepsis.

Postnatal causes- assisted

ventilation, severe jaundice, mumps

and childhood infections such as

meningitis, encephalitis, head injury,

syphilis and otitis media.

Unknown causes- no definite

unknown aetiology.

Nose or throat problems- nasal

allergies, sinus problems and

blockage of the eustachian tube.

Ear disorders- otosclerosis and

meniere’s disease.

Tumors- ear and brain

(hydrocephalus).

Neurological disorder- multiple

sclerosis and stroke.

Hypothyrodism (underactive

thyroid).

SIGN AND SYMPTOM

Symptoms of deafness in infants:

1-4 months- lack of response

to sounds or voices.

4-8 months- disinterest in

musical toys and lack of

verbalization such as

babbling, cooing and aking

sounds.

8-12 months- lack of

recognition of child‘s own

name.

12-16 months- lack of

speech.

Signs of deafness in child or infants:

don‘t respond to things said

to them, or don‘t seem to

notice that you have spoken

to them.

ask you to repeat things

(more for older children than

infants).

need to search right and left

to find the voice or sound.

start talking later than

children the same age.

can‘t say words and

sentences the right way.

have difficulty hearing one

voice when several people

are talking.

miss quick or soft sounds.

are performing poorly at

school.

Common behaviour in children with

hearing loss:

Sad - because they don‘t

understand why people shout

at them

Angry and frustrated - at not

being able to hear or

communicate

Shy - particularly around

people they don‘t know,

because they can‘t

understand everything they

say.

Quiet and withdrawn at

school - if they can‘t hear the

teacher well or follow

instructions

Exhaustion - hearing takes a

lot of energy. Children with a

hearing loss are often

159 Pediatric conditions Hand notes

exhausted by the end of the

day.

Misbehaved - a behavioural

problem can sometimes mask

a hearing loss in children.

Often behavioural problems

result from frustration at not

hearing correctly.

INVESTIGATION

DIAGNOSIS:

The diagnosis of pediatric hearing loss

requires careful history, family history and

physical examination. Accurate assessment

of the degree of hearing loss is essential to

develop the appropriate treatment plan.

Testing hearing in a young child with

hearing loss can be difficult and require

experience and significant expertise. There

are multiple ways depending on the child‘s

age and severity of hearing loss that hearing

can be tested.

Behaviour testing

This test is given from birth

to 6 months of age.

The child behaviour is

monitored during the test and

compared to normal hearing

children as younger children

cannot give the specific

responses required in pure-

tone audiometry.

This test requires experience

and skill from the tester.

Condition play audiometry

Similar to behaviour testing

This test is given for children

ages two and half a year to

five years.

A more complete frequency-

specific hearing test can be

obtained from this method.

Pure-tone audiometry

This is a standard hearing

test.

This test determines the

lowest tone at which a child

can hear a specific tine at a

specific frequency.

For older children, speech

can also be tested by

presenting words as opposed

to tones.

Speech testing can give an

accurate assessmentof the

ability to wear hearing aids.

Auditory Brainstem Response

Testing (ABR,BSER,BAER)

Auditory sound or stimulus

from a probe placed in the ear

to stimulate the hearing

system is used.

The response of this sound is

measured by surface

electrodes placed on the

head.

No responses are required

from the child to measure

these responses.

160 Pediatric conditions Hand notes

Evoked Otocoustic Emissions

(EOAEs)

OAE are sounds that are

produced in the cochlea and

measured with via probe in

the ear canal.

No responses are required

from the child to measure this

sounds.

Other tests depending on

symptoms, family history,

associated other medical

problems and physical

examination may be

obtained.

These include the following:

- MRI scan- uses magnetic

waves to make pictures of

the inside of the head.

- CT scan of the temporal

bone- a type of x-ray that

uses a computer to

makepictures of the head.

- Urinalysis- urinalysis can

reveal diseases that have

gone unnoticed because

they do not produce

striking signs or

symptoms. Examples

include various forms of

glomerulonephritis and

diabetes mellitus.

- Thyroid testing- blood

test used to evaluate how

effectively the thyroid

glandis working

- Electrocardiography

(EKG)- an instrument

used in the detection and

diagnosis of heart

abnormalities that

measures electrical

potentials on the body

surface and generates a

record of the electrical

currents associated with

heart muscles activity.

- Complete blood cell

count.

- Other blood work.

- Genetic testing.

Genetic Testing

A relatively new diagnostic

tool to diagnose paediatric

hearing loss is via molecular

genetics or genetic testing.

This type of testing involves

obtaining blood from a

hearing impaired child and

performing a chromosomal

analysis.

The chromosomal defect

leading to the hearing loss

can be identified.

This test used for both

diagnostic and research

purposes.

MEDICAL MANAGEMENT

Family support, advice and

information.

Hearing aids: the early use of hearing

aids (before 6 months of life) has a

better outcome, in term of speech

and language development.

Pre-school education support.

161 Pediatric conditions Hand notes

Special school education need

assessment and provision.

Cochlear implants: cochlear implants

in both ears are recommended for

children with severe to profound

deafness only if they do not get

enough benefit from hearing aids

after trying them for 3 months.

Other devices such as radio aids (the

teacher wears a transmitter and the

child with hearing loss wears a

receiver).

Communication support (spoken or

signed) including:

Auditory-oral approaches

maintain that many deaf

children can develop their

listening skills and a spoken

language. These approaches

emphasise the use of hearing

aids, radio aids and cochlear

implants to maximize the

hearing a deaf child may

have.

Lip reading and speech

reading.

Sign bilingualism describes

an approach that encourages

the learning and using of two

languages at the same time: a

sign language and

written/spoken language.

Finger spelling: each letter of

the alphabet is indicated by

using the fingers and

palm of the

hand. It is used for spelling

names, places or forwords

that don‘t have a sign.

Vibrotactile devices.

Speech therapy.

PREVENTION

Rubella immunisation programmes

aiming at eradication.

Early diagnosis and treatment of

potential causes (meningitis).

Cautious prescribing of medications

for pregnant and possibly pregnant

women as well as children.

REFERENCES

http://www.medicinenet.com/detecti

ng_hearing_loss_in_children/article.

htm

http://www.pamf.org/hearinghealth/f

acts/children.html

http://www.patient.co.uk/doctor/Chil

dhood-Deafness.htm

http://www.vanderbilthealth.com/bill

wilkerson/27938

Pediatric Audiotology: diagnosis,

technology and management by Jene

Reger Madell and Carol Flexer.

Visual Receptive Deficit

Introduction

162 Pediatric conditions Hand notes

The visual receptive component is

the process of extracting and

organizing information from the

environment (solah&Linear 1986)

It means that the visual receptive

component is the process of pulling

out and arrange the input that gain

from the environment.

Visual receptive is one of the visual

perceptive components.

Another component for visual

perception which related to visual

receptive component is visual

cognitive component.

Visual receptive cognitive

component is the ability to interpret

and use what is seen.

Visual receptive component include

fixation,pursuit and saccadic eye

movements,acuity.accomondation,bi

nocular vision and stereopsis

convergence and divergence.

Definition

♦The visual receptive deficit means

disability to pull out and translate the

information that gain from the environment

and surrounding.

♦Children with visual receptive deficit is

unable to recognize and identify of

shape,object,colour and other quantities.

♦They are also always related with low

vision,blindess and any other visual problem

Type Of Visual Receptive Deficit

♦The importance of good vision for

classroom work cannot be emphasized

enough.

♦More than 50% of a student‘s time is spend

working at near point visual task such as

reading and writing.

♦Another 20% is spent on task that require

the student to shift focus from distance to

near and near to distance such as copying

from the board.

♦More than 70% of the day, tremendons

stress is being put on the visual

system(Ritty,Solah&Cool 1992)

♦Many student with low vision dysfunctions

can have difficulty meeting the behavioral

demands of sitting still, sustaining attention

and completing their work .

☻One type of visual receptive deficit is

REFRACTIVE ERROR.

Binocular Dysfunction

Experiences blurred vision at

distance and near, with the degree of

loss of clarity depending on the

amount of astigmatism.

Astigmatism

Astigmatism is type of refractive

error of eye and is the common

reason why a person goes to see an

eye professional.

When the conditions motor fusion

and the sensory have meet for

binocular fusion to occur, the single

163 Pediatric conditions Hand notes

binocular vision is at the best

difficult and at worst impossible.

One eye overtly turn in, out, up, or

down because of muscular

imbalance, the condition is known as

strabismus or we called as wandering

eye.

Another type of binocular

dysfunction is phoria.

Phoria refers to a tendency for one

eye to go slightly in,out,up and down

but with the absence of over

misalignment of two eyes.

BLINDNESS

Blindness is those people who is

unable to see or loss of vision.

This problem is due to the damage

in the region of the left or right

occipital cortex.

Occipital cortex play an important

role for vision. It processing visual

information that receives from the

environment.

Nearsightedness& Farsightedness

The child who is nearsighted has

blurred distance vision but generally

experiences clarity at near point.

The child who is farsighted

frequently has clear distant and near

vision but has to exert extra effort to

maintain clear vision at near point.

Causes of Visual Receptive Deficit

There are several causes that lead to the

visual receptive deficit:-

♦Disruption/dysfunction of oculomotor

control.

♦Visual field deficit.

♦Visual acuity deficit

DISRUPTION /DSFUNCTION OF

OCULOMOTOR

Oculamotor system makes possible

the reception of visual stimuli(visual

receptive).

The purpose of occulamotor function

is to achieve and maintain foveation

of an object.

Occulomotor disruption occur when

the six muscles around each eyes

which work together in an extremely

arrange manner in order to

accurately controls eye movement

are not properly coordinated

The causes of occulomotor

dysfunction range from slow

development to disease of the central

nervous system.

VISUAL FIELD DEFICIT

Visual field is the external world that

can be seen when a person looks

straight ahead.

Damage to the receptor cell in the

retina or to the optic pathway that

relays retinal information to the

central nervous system(CNS) for

164 Pediatric conditions Hand notes

processing result in a visual field

deficit.

The location and the extent of the

visual field deficit depends on where

damage occurs on the pathway.

The example of case involving the

visual field deficit is blindness or

loss of vision.

VISUAL ACUITY DEFICIT

Visual acuity is the ability to see

small visual detail. Acuity

contributes to the capability of the

CNS to recognize object.

Acuity is also said as keenness or

sharpness and with regard to vision,

acuity ensures that clear and precise

visual information is provided to the

CNS for processing.

Most of the deficiencies in visual

acuity are caused by the deficit in the

optical system (the cornea or lense)

or even the length of the eyeball.

This is causes the image to be

focused poorly on the retina.

The example of case regarding the

visual acuity deficit is

nearsightedness, farsightedness and

astigmatism

CLINICAL PRESENTATION

☻There are a few of sign and symptom that

shows for every causes of visual receptive

deficit.

DISRUPTION/DSYFUNCTION OF

OCULOMOTOR

Children with oculomotor system

dysfunction always has a fatigue, eye

pain, or headache after a period of

sustained viewing in near task such as

reading.

The children also may have difficulties

concentrating and maintaining attention

in school work, an activity such as

drawing, colouring, cutting and

puzzling.

VISUAL FIELD DEFICIT

Children with visual field deficit is

having difficulty of seeing.

In early stage, the children have

difficulty recognizing object at a

distance (street sign or bus sign).

The children also may have difficulty in

differentiating colours particularly in

the green blue-violet range. The

children may also difficult seeing well

up close for example is reading.

VISUAL ACUITY DEFICIT

Children with visual acuity deficit

result in an inability to discriminate

small details and to distinguish

contrast and colour.

Activities dependent on

reading,writing,and fine motor

coordinate(e.g: reading the

book,dialing a telefon,identifying

money and brush the teeth.

The children may be unable to

identify landmarks, see obstacle in

the path of walking, or accurately

detect motion which may impair his

or her ability to ambulate safely and

165 Pediatric conditions Hand notes

maintain orientation in the

environment.

This may reduce the independence

level of the children.

Investigation

There are some diagnoses that can be

done to detect the visual receptive

deficit among the children.

Interview with the

family regarding significant visual

history helps identify any

conditions that may be associated

with visual limitations.

Interview with the

teacher to know the level of the

children during learning activities

at school.

Perimetry,confrontati

on and careful observation of the

child as he or she performs daily

activities give useful information

regarding field integrity in

measuring visual field.

A head scan may help

to confirm where and what kind of

damage has happened to the visual

part of the brain.

Some school and

clinics use a telebinocular or other

similar instrument in vision

screen.This provide information on

clarity or visual acuity at both near

and far distance, as well as

information on depth perception

and binocularity.

Medical Management

There are some treatments that can be done

to overcome the problem that involve in

visual receptive deficit:-

Some children have surgery to

correct an eye turn. Although this

intervention can correct the eye

cosmetically, it does not always

result in binocular vision.

Encourage the children to use the

spectacles, contact lenses or low

vision aid(LVA).This will help the

children see more clearly and ensure

the vision part of the brain grow and

develop correctly.

Problem at the school may be reduce

expecially in reading by increase the

size of print and word space out.

Home visiting teachers,

physiotherapist and occupational and

speech therapy may all add to the

child‘s cares and education. It is

important to continue the programme

that they recommend.

When reading, it can be helpful to

read line at time through a ‗letter

box‘ placed over the page.

Placing a piece of blue tack below

the line they are reading at the

beginning of the next sentence can

help some children find their way

back to the start of the next line more

quickly.

Prognosis

The children who is undergo the treatment

shows a positive feedback which they shows

the improvement in their level of life

regarding the visual receptive problem.

Some of the treatment are very suitable with

the patient. However not everyone is lucky

166 Pediatric conditions Hand notes

enough to be healthy as it was. Some

treatment maybe not suitable with the

children or the children cannot be cured

because it has a severe problem. The

treatment such as surgery procedure is not

guaranted enough to solve the problem

involving Blindness. But another treatment

such as using a spectacle may help the

children who has a low vision problem.

REFERENCE

OCCUPATIONAL THERAPY FOR

CHILDREN,15th

EDITION,COPYRIGHT 2005 JANE

CASE SMITH.

OCCUPATIONAL THERAPY-

practice skill for physical

dysfunction,16th

EDITION,COPYRIGHT 2006

MOSBY.

Visual Perceptive

DEFINITION

●Visual perception is the ability to interpret

information and surrounding from the effect

of visible light entering the eye

●Visual reception component is the process

of extracting and organizing information

From the surrounding.

●Visual reception components are:

-visual fixation

-pursuit

-saccadic eye movement

-acuity

-accommodation

-binocular fusion and stereopsis

-convergence and divergence

-Visual fixation:

is the prerequisite skill for other

oculomotor.For example shifting the gaze

between object.

-Pursuit:

is continued fixation on the moving object

so the object is maintained in the fovea(the

most centre part of the macula in the eye)

-Saccadic eye movement:

is defined as rapid change of fixation from

one point to another.For example during

reading.

-Acuity:

is the capacity of each eye to differentiate

the fine of object in the visual field.

-Accommodation:

167 Pediatric conditions Hand notes

The ability of each eye to compensate for

blurred vision which a process used to

obtain clear vision.

-Binocular fusion:

The ability mentally to combine the image

from two eyes into single perception.There

are two types of prerequisite skills which are

motor fusion and sensory fusion.

-Stereopsis:

Binocular depth perception or three

dimensional vision.

-Convergence and divergence

The ability of both eyes to turn inward

toward the medial plane and outward from

the medial plan.

●Visual cognitive component provide the

ability to interpret and use what is seen

●Visual cognitive component are:

-visual attention

-visual memory

-visual discrimination

-visual imagery

-visual attention:

Its involves the selection of visual input and

provide an appropriate time frame through

which visual information is passed by the

eyes to the brain to be interpret.

There are 4 component of visual attention

1.alertness–is the transition from an awake

to the attentive and ready state needed for

active learning and adaptive behaviour.

2.selective attention–is the ability to choose

relevant information and ignoring irrelevant

information.

3.vision vigilance–is conscious mental effort

to concentrate and persist at a visual task.

4.shared attention–is when two or more

simultaneous tasks are given and the abiliy

to respond to it.

-visual memory:

It involves the integration of visual

information with previous experiences.

-visual discrimination:

The ability to detect features of stimuli for

recognition, matching and categorization.

*Recognition is the ability to note key

feature of a stimuli and relate them to the

memory.

*Matching is the ability to note the

similarities among visual stimuli.

168 Pediatric conditions Hand notes

*Categorization is the ability to determine

quality and category by which similarities

and differences can be detected.

●Object vision

Is implicated in the visual identification of

objects by colour,texture,shape and

size.Obvision are divided into three which

are form constancy,visual closure and

figure-ground.

1.Form constancy is the recognition of

forms and objects as the sane in the various

environment,positions and sizes.It help a

person develop stability and consistency in

the visual world.

2.Visual closure is the identification of

forms or objects from incomplete

figure.Enables a person to quickly recognize

the object,shapes and form by matching it to

previous memory that stored.

3.Figure-ground is the ability to differentiate

between foreground or background forms

and objects. It is the ability to separate

essential data from distracting environment.

●Spatial vision provides information about

the location of object qualities that needed to

guide action. There are three aspect of

spatial vision that are position in space,

depth perception and topographic

orientation.

1.Position in space is the determination of

the spatial relationship of figures and objects

to oneself or other forms and objects. This

provides the awareness of an object's

position in relation to the observe. This

perceptual ability is important to

differentiate among letters and sequences of

letters in a word.

2.Depth perception is the determination of

the distance between objects,figures or

landmarks and the observer and changes in

planes of surfaces. It help people to move in

spaces.

3.topographic orientation is the

determination of the location of objects and

the settings and the route to the location.

-Visual imagery

The ability to ´picture´ people,ideas and

ojects in the mind´s eye even mhen the

object are not physically present.

169 Pediatric conditions Hand notes

VISUAL PERCEPTIVE DEFICITS

TYPE

1.Blindness

2.Low vision

CAUSES

1.Macular degeneration

2.Diatetic retinopathy

3.Glaucoma

4.Hypertension

5.Choroiditis

6.Retinitis pigmentosa

CLINICAL PRESENTATION

1.May have reversal b for d, p for q or

inversion u for n, w for m.

2.Has difficulty negotiating.

3.Complaints eyes hurt and itch.

4.Always rubbing eyes.

5.Complaints print blurs while reading

6.Turns head when reading a cross page

7.Hold paper at odd angle.

8.Can not copy correctly

9.Loses place frequently.

10.Does not recognize an object or word

when only part of it is not shown.

11.Hold pencil tightly.

12.Struggles to cut or paste

13.Letters colliding, irregular pacing, letters

not in on line.

INVESTIGATION

To detect the perception deficit is through a

few test perform by thre ophthalmologist.

The tests are

1.Visual acuity test:a person needs an eye

chart measure how well the person sees at

various distances. For example by using

snell chart

2.Visual field tesr:ophthalmologist use this

test to measure side or peripheral vision.

3.Tonometry test:This test determine the

fluid pressure inside the eye to evaluate for

glaucoma.

MEDICAL MANAGEMENT

1.Treatment for glaucoma involves the

application of eyes drop or oral

administration of medication to decrease the

pressure in the eyes.

170 Pediatric conditions Hand notes

2.Laser treatment for glucoma to reduce the

fluid pressure in the eye.

3.Early phases of cataract, treatment may

only involves prescription glasses and

magnifies.

4. In progress cataract, surgery is the only

option fir the patient.

5.Laser procedure and surgical treatment are

used to reduced the effect of diabetic

retinopathy on the retina of the eye.

Visual perception deficit in

head injury

Definition

-Is any trauma that leads to injury of the

scalp, skull or the brain.

-After the brain injury,visual changes may

occur.These changes can vary from mild to

severe impairment depending on the type

and the location of the injury.The ability to

perform daily activities can be affected in

various ways.

-Types changes may be in

1. Ocularmotor control

2. Visual acuity

3. Visual attention

4. Visual perception

1. Oculamotor control difficulties result in

problem coordinating eye muscle. For

examples

•Difficulty in tracking object movement in

space with the eye

• Problem with scanning

•Difficulty with reading

•Double vision (a condition where two

images are form a single object either some

or all

171 Pediatric conditions Hand notes

of the time.The two images may be one

on top of the other, side by side or a mix of

both)

2. Visual acuity is simply how clearly you

see,whether it is near vision as needed for

Reading and far distant for driving.Any

changes included

• Needed for corrective lenses.

•Altered contrast sensitivity(seeing object

distinct from the background environment

for example seeing white sock on white

carpet).

3.Visual attention is the ability to focus on

object and environment to note specific

Characteristic and know their relationship

to each other.

4.Visual perception is the ability the brain to

interpret information. After the brain injury

visual perception can be altered in several

ways

•Visual field deficits-lose of vision in a

part of one sides of the body.

•Reduced visual attention-limited focus

sometimes on one side of the body

•Impaired spatial relation-decreased ability

to see object s in relations to their

environment or other object. For example

eating only from one side of the plate.

•Problem in reading

•Problem in the financial management

•Difficulty with functional mobility tasks

and navigating around environmental

Obstacles.

Bibliography

-Jane Case Smith fifth edition:occupational

therapy for children

-http://www.nhs.uk/condition/Double

vision/Pages/Introduction.aspx

-

http://www.wrongdiagnosis.com/symptom/b

lindness/causes.

172 Pediatric conditions Hand notes

Deaf and Blind

Introduction

In the subject Pediatric Condition,

there are many chapters we will learn. One

of the chapters is Children with Sensory

Deficits. In this chapter, I have do an

assignment about deaf and blind.

In this children problem, we can

define what definition of deaf is and

definition of blind. In this assignment, I also

put the type of deaf and blind and what are

the causes that lead to deaf and blind.

Besides that, we can know the clinical

presentation of deaf and blind. Furthermore,

we can define what the investigation for

deaf and blind is. We also can define what

the suitable medical management for deaf

and blind are.

Deaf is hearing impairment or the

condition where in ability to defect certain

frequencies of sound. Blind is the condition

of lacking visual perception. Deaf and blind

may result from genetic or disease.

There are much type of deaf and

blind such as conductive hearing loss and

colour blindness. This type of disorder can

be detect by doing some test and can be

treated by using hearing aids or do surgery.

Definition Of Deaf

Deaf is partially or completely

lacking in the sense of hearing.

Unable to receive sound.

Hard to hearing.

Deafness can occur in one or both

ears.

Definition Of Blind

The condition of lacking visual

perception due to physiological

factors.

Conditions that prevent an individual

from receive sound in any forms.

Can affect individuals of any age and

may occur at any time from infancy

through old age.

Type of Deaf

Conductive Hearing Loss- part in

the outer ear and/or middle ear don‘t

work properly. It is caused by head

injury, ear infection, birth defects

and disease such as otosclerosis.

Sensorineural Hearing Loss-

results from damage to the delicate

sensory hair cells of the inner ear or

the nerves which supply it. It is

causes by normal ageing proses, too

much loud noise, genetic, head

injury and certain medications.

A Mixed Hearing Loss- refers to a

combination of conductive and

sensorineural loss and means that a

problem occurs in both the outer or

middle and the inner ear.

A Central Hearing Loss- results

from damage or impairment to the

nerves or nuclei of the central

nervous system, either in the

pathways to the brain or in the brain

itself.

173 Pediatric conditions Hand notes

Neural Hearing Loss- hearing nerve

doesn‘t work properly causes by

genetic, head injury and tumour.

Type Of Blind

Colour blindness- the decreased

ability to perceive differences

between some of colour that other

can distinguish. It is more often of

genetic and may also occur because

of brain damage or exposure to

certain chemical.

Blind sight- is phenomenon in

which people are perceptually blind

in a certain area of their visual field

demonstrate some response to visual

stimuli.

Monocular blindness- is the visual

loss that affects only one eye. This

condition is common and could last

from a few minute to a few hours.

Night blindness- is a decreased

ability to see at night. Problems

seeing in any dark or dim lighting.

Causes Of Deaf

Age- old age have higher percentage

to loss sense of hearing than

children. The ability to hear

decrease with increasing of age.

Long-term Exposure to

Environmental Noise- People who

lives near airports or freeways is

exposed to levels of noise. Common

sources of damaging noise levels

include car stereos and

transportation. If one is exposed to

loud sound at high levels, then

hearing impairment will occur.

Genetic- If a family has a dominant

gene for deafness it will persist

across generations because it will

manifest itself in the offspring even

if it is inherited from only one parent

Disease or illness-

Measles may result in

auditory nerve damage

Mumps may result in

profound sensorineural

hearing loss

HIV may directly affect the

cochlea and central auditory

system.

Chlamydia may cause

hearing loss in new-born to

whom the disease has been

passed at birth.

Syphilis is commonly

transmitted from pregnant

women to their fetuses, and

about a third of the infected

children will eventually

become deaf.

Otosclerosis is a hardening of

the stapes in the middle ear

and causes conductive

hearing loss.

Medication-Some medications cause

irreversible damage to the ear, and

are limited in their use for this

reason. This includes some diuretics,

aspirin and NSAIDs, and macrolide

antibiotics.

Exposure to Ototoxic Chemical-

Hearing loss can also result from

specific drug. Ototoxic chemicals

174 Pediatric conditions Hand notes

have an additive effect on a person‘s

hearing loss. Fatal alcohol syndrome

is reported to cause hearing loss of

infants born to alcoholic mother.

Physical trauma- People who had

head injury are especially vulnerable

to hearing loss or tinnitus, either

temporary or permanent. There can

be damage either to the ear itself or

to the brain centers that process the

aural information conveyed by the

ears.

Causes Of Blind

Genetic- eyes disease that

transmission from parent by genes.

Cataract- clouding of the lens of the

eyes which impedes the passage of

light.

Glaucoma- an eyes disorder in

which the optic nerve suffer damage.

Corneal opacities- inflammatory

eyes disease that cause scarring of

the cornea.

Trachoma- is a bacterial infection of

the eyes. Infection spreads from

person to person.

Accident- blind can occur if

something hurt the eyes.

Optic nerve (atrophy)-affect the

nerve bundle that send signal from

the eyes to the back of the brain.

Childhood blindness can be caused by

conditions related to pregnancy, such as

congenital rubella syndrome and retinopathy

of prematurity. Blindness also can occur in

combination with such condition as mental

retardation, autism spectrum disorder,

cerebral palsy, hearing impairment, and

epilepsy.

Clinical Presentation Of Deaf

Clinical sign;

Doesn‘t react when called

Appears inattentive or prone to

daydreaming

Listens to the TV at high volume

Balance problems

Language impairment

Talk too loudly

Mispronounces words

Behind in development motor skill

and coordination

Is often tired, grump, frustrated or

over-active

Clinical symptom in infants;

1-4 months : lack of response to

sound or voices.

4-8 months : disinterest in musical

toy.

: Lack of

verbalization such as babbling

8-12 months : lack of recognition of

child‘s own name

12-16 months: lack of speech

175 Pediatric conditions Hand notes

Clinical Presentation Of Blind

Clinical symptom;

Impaired vision

Language impairment

Poor vision

Denial of colour issues

Clinical sign;

Eyes don‘t line up, one eye appears

Crossed or looks out

Eyelids are red-rimmed, crusted or

swollen

Eyes are watery

Child rubs eyes a lot

Blinks more than usual

Has trouble reading

Things are blurry or hard to see

Investigation Of Deaf

SCANNING TEST

Otoacoustic Emissions Test (OAE)

the machine send sound to

the inner ear

Automated Auditory Brainstem

Response (AABR)

A small device that makes

special sound is placed in

baby ear.

A machine measure the

hearing nerve‘s response to

the sound.

If the children fails one of the skinning test,

they should do full hearing evaluation test

FULL HEARING EVALUATION

TEST

Test Age

Diagnostic Auditory

Brainstem Response

Under 6

months

Visual Reinforcement

Audiometry (VRA)

6 months to

2 years

Conditioned Play

Audiometry (CPA)

2 years to 4

years

Tympanometry Any age

Investigation Of Blind

Ishihara plates-the test consist of a

colour red plates which contains a

circle of dots appearing randomized

in colour size.

Night vision threshold test (NVTT)-

is an example of a colour perception

test.

Physical examination

Blood pressure- high blood pressure

increase risk of hypertensive

retinopathy, stroke and central retinal

vein thrombosis.

Visual acuity- reflects the integrity

of the central field

Examination of pupils

Ophthalmoscopy and slit lamp

examination-to examine the optic

nerve.

176 Pediatric conditions Hand notes

Medical Management of Deaf

A child with a hearing loss may

prefer to stay away from noisy

places, such as rock concerts,

Football games, and airports, as this

can cause noise overflow.

Controlling noise and using hearing

protectors are insufficiency for

preventing hearing loss from these

chemical.

Myringotomy

Psychotherapy

Tumpanoplasty tube placement

Cochlear implants

For children with a severe to

profound sensorineural hearing loss,

who receive little from hearing aids.

Bone conduction implants

For children with conductive hearing

loss, mixed hearing loss or sided

deafness.

Hearing aids

For children with a mild-to-moderate

sensorineural hearing loss.

MEDICAL MANAGEMENT OF BLIND

Contact lenses- used after surgery for

bilateral or unilateral cataracts in

children under two years of age.

Glasses- used in selected cases when

the cataract surgery involves both

eyes and contact lenses have failed.

Colour vision test

Cataract surgery-removal of the

natural lens of the eyes.

Laser surgery-is the surgery using a

laser to cut tissue instance of a

scalpel.

Use drug- example: Prednisone,

Timoptic, Xalatan

References

http://deafness.about.com/od/medical

causes/tp/topcauses.htm

http://www.pamf.org/hearinghealth/f

act/type.html

http://deafness.about.com/og/earbasi

c/a/typesoftloss.htm

http://www.pamf.org/hearinghealth/f

act/children.html

http://www.preventblindness.org/chil

dren/trouble-signs.html

http://en.wikipedia.org/wiki/hearing-

impairment

http://www.cochlear.com/au/hearing-

and-hearing-loss/type-hearing-loss-

children

http://www.cochlear.com/au/signs-

symptom-hearing-loss-children

http://www.cochlear.com/au/hearing-

loss-treatments/children

177

Acknowledgment

Thanks for all the students who involved to prepared this hands notes.