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ContentsNormal Development: Definition,
MilestonesDevelopmental Delay: Definition,
CriteriaAnatomical and Pathological Aspects &
Differential DiagnosisApproach to A Child with Mental/Motor
Developmental Delay:* History* Physical Examination* Investigations
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Definition of Development
• It is a continuous process from conception to maturity
• Depends on the interaction between the child (genetic factors) and the environment (acquired factors)
• Assessed as Milestones.
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Introduction toDevelopmental
Delay• Generally, developmental delay is a term used to describe a child who does not reach developmental milestones at the expected age, even after allowing for the broad variation of normality. A classification scheme for neurodevelopment disabilities is provided in the next table. An estimated 5 to 10% of the pediatric population has a developmental disability.
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Description Disability
Significant delay in fine or gross motor skills with no impairment in other developmental areas
Gross motor delay
Significant delay in receptive and/or expressive language skills with no delay in other developmental domains
Developmental language disorders (specific language disorders)
Significant delay in two or more developmental streams as measured by appropriate standardized screening tests;. This term reserved for children<5 yr of age
Global developmental delay
Early-onset non-progressive motor impairment with associated abnormalities in muscle tone
Cerebral palsy
Primary sensory impairments
Visual impairment: an optically or medically diagnosable condition in the eye(s) or visual system that affects the development and normal use of vision, ranging from slight to complete blindness
Visual
Hearing impairments: a reduction in the ability to hear sound, ranging from slight to complete deafness
Hearing
School related
ADHD: a persistent pattern of inattention and/or hyperactivity that is expressed with higher frequency and severity than normally found in the population
ADHD
Learning disabilities: significantly lowered individual achievement than normal as measured by standardized tests assessing reading, mathematics, or written expression
Learning disabilities
Autistic spectrum disorders
PDD: impairments in social or communication skills or restrictive/repetitive patterns of behavior
Pervasive developmental delay (PDD)
Pervasive developmental disorders not otherwise specified: similar to PDD but not enough symptoms to warrant a PDD diagnosis
Pervasive developmental disorders not otherwise specified
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When can we say this child has a
delayed development?
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Mental Function• Measured with the IQ “Intelligence
Quotient”Level of MR
Stanford-Binet IQ Score
WISC-III IQ Score
Educational Label
Mild 67-52 70-55 Educable (EMR)
Moderate 51-36 54-40 Trainable (TMR)
Severe 35-20 39-25
Profound < 20 < 25 Severe-Profound
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Motor Function
• Denver Developmental Screening Test II
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Anatomical Review
• Regarding the mental and motor function of the body.
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Bone
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Mental Disability
Hereditary Inborn errors of metabolism Fragile X Syndrome
Early Alterations Trisomies IU infections, toxins
Perinatal Placental insuffi ciency Prematurity, hypoxia
Acquired Childhood D/O meningitis Trauma
Environmental and Social Deprivation Psychosis/ neurosis
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The Cerebrum
Encephalopathy
Dysgenesis
Degenerative
Cerebral Palsy
Hydrocephalus
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The Spinal Cord
Transection
Maldevelopment
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Maldevelopment
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The anterior Horn Cells
WERDING-HOFFMAN DISEASE
POMPE’S DISEASE
POLIOMYELITIS
TRANSVERSE MYELITIS
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The Peripheral Nerves
Infantile
Spinal Muscular Atrophies
Inflammatory Demyelinating Neuropathies: GBS; CIDP
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CHILDHOOD
Axonal or Neuronal
Ataxia telangectasia, Friedreich Ataxia
Myelin disorders
Charcot-marie-tooth disease
Immune
Guillain Barré
Toxic
Diphtheria, Heavy Metals
Metabolic
Diabetes Mellitus , Vitamin B12 deficiency
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The Neuromuscular Junction
Myasthenia Gravis
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The MusclesMyopathies
Muscular DystrophyDuchenne/Becker
InflammatoryDermato-/poly-myositis
MetabolicMitochondrial
EndocrineThyroid
Congenital
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The Bones
Rickets
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Approach toA Child WithDevelopmen
tal Delay
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The Cerebrum
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CLINICAL PICTURE
• Any perinatal insult: toxins, infection, radiation, undernutrition, maternal illness, hypoxia
• Instrumental/complicated delivery• Neonatal seizures, respiratory distress,
hyperbilirubinemia, metabolic disorder, head trauma
• Brain Surgery/Shunts• Loss of previously acquired milestones
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• Abnormal facies and stature (any signs consistent with a syndrome)
• Ht, Wt, and Head Circumference• Abnormality in organs (CHD,
Hepatomegaly, Genitalia, skin)• Abnormal neurlogic exam.• Shunts• Sign of increased ICP
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INVX
• CBC with Differential• TORCH antigens/antibodies by ELISA,
PCR• CSF analysis and culture• EEG• Karyotyping• Brain CT / MRI• Metabolic screen
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The Spinal Cord
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-Both genetic and enviromental factors such as nutrition
-having a child with spina bifida increase the risk of occurance in next child by 8 times
-patients with spina bifida are usually asymptomatic
-meningocele and myelomeningocele are evident at birth other than obvious spinal cord deformity symptoms are caused by the complications of spina bifida even after correction
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Usually they are identified by examination and x-ray findings
by PE :Over the lumber region of the back there may
be an overlying skin lesion as :-Tuft of hair-lipoma -birth mark-small dermal sinusThe underlying lesions identified by us and
MRI
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By examinations : - paralysis of the legs -dislocation of hips and talipes -scoliosis -neuropathic bladder and bowel -hydrocephalus from the Arnold-
Chiari Malformation
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-Blood test during pregnancy by Triplet test and confirmed by aminocentesis
-Evaluation of the fluid that surrounds the brain and spinal cord
Ultrasound- Urinary tract
evaluation, including a urinalysis-
-X-ray of spine ,hips, legs and skull.
MRI-
Invx
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The anterior Horn Cells
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Clinical Picture
• Begin between 6 m to 6 y• Progressive proximal weakness• Decrease spontaneous movements• Floppiness• Atrophy• Loss of head control• With time : legs stop moving all together• Play• Mental, social , language, sensations are all
normal
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• Face : decrease facial expressions, increase drooling and gargling
• Eyes: bright , open, mobile
• Neurological examination:Flaccid weaknessEarly loss of reflexesRapid, shallow, predominantly abdominal
breathing
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INVX
Mild increase in ALP
EMG
MUSCLE BIOPSY
DIAGNOSIS IS MADE BY DNA PROBE FOR SMA
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• Poliomylitis:• Abs• Isolation of the virus• CSF: increase cells , mainly
lymphocytes,proteins early 30-60mg… late may rise to 100-600mg, normal sugar
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The Neuromuscular Junction
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CLINICAL PIC.
Fluctuating weakness of voluntary muscles, particularly the cranial nerves double vision, dysphagia and ptosis.
* Proximal muscles are affected difficulty with combing hair, getting up from a chair ………….etc.
* Onset: usually subacute, but acute onset (with respiratory failure) does occur.
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Common presentations include: i) involvement of facial and bulbar
muscles and proximal weakness; ii) diplopia and ptosis alone(ocular
myasthenia); iii) complaints of fluctuating weakness,
particularly of proximal muscles; iv) patients may present in respiratory
failure, particularly if there has been an associated infection or physical stress.
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Signs are of motor weakness: ptosis, ocular palsies, gaze palsies, facial and jaw weakness, bulbar palsy.Myasthenia classically has fatigueability of muscle strength: eg on repeated muscle contraction strength becomes less and less. This is best examined in the most affected muscles: if there is ocular weakness, ask the patient to look upwards and observe to see if ptosis develops; if there is proximal weakness test repeated shoulder abduction. Note that reflexes are normal, there is no muscle wasting or fasciculations and sensory examination is normal.
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INVX
i) Tensilon Test (Edrophonium)ii) Anti-acetylcholine receptor antibodies: the
most sensitive test iii) Electrophysiology: repetitive stimulation:this is
the electrical equivalent of testing for fatigueability: repeated shocks are given and if myasthenia is present, there may be a decline in the amplitude of the muscle response.
iv) CT scan of the thorax: may show a thymoma.
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Peripheral Nerves
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C/P
1. combination of motor, sensory and sometimes autonomic deficits
2. Motor symptoms: hypotonia, weakness and atrophy more distal than proximal; some time with fasiculation
3. Sensory - most neuropathies present with slowly progressing, symmetrical sensory loss, often "stocking/glove" distribution
4. Loss of deep tendon reflexes5. Autonomic - postural hypotension, weak bowel
and bladder sphincters, impotence, unreactive pupils
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Peripheral Nerves causes
• electromyography (EMG): • An action potential amplitude that is twice normal• An increase in duration of the action potential • A decrease in the number of motor units in the
muscle
• Nerve conduction velocity (NCV) ==> slow
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• nerve, skin, or muscle biopsy may be performed to confirm the diagnosis. ==> microscopic evaluation and chemical analysis
• blood and urine tests
• imaging tests (e.g., CT scan, MRI scan)
• Lumbar puncture: ↑ CSF protein is diagnostic for Guillain-Barre
syndrome
• Genatic marking as SMN gene test for spinal muscle atrophy
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The Muscles
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CLINICAL PIC.
Skeletal muscle weakness is the hallmark of most myopathies, primarily in the muscles of the shoulders, upper arms, thighs, and pelvis (proximal muscles). the distal muscles of the hands and feet may be involved during the advanced stage of disease.
-Aching -Cramping -Pain -Stiffness -Tenderness -Tightness
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• Family History
* Risk factors for other myopathies include the following: -Autoimmune disorders (e.g., myasthenia gravis, scleroderma, thyroiditis) -Endocrine disorders (e.g., Cushing syndrome, hypothyroidism, hyperthyroidism, Addison disease) -Infection (e.g., HIV, Lyme disease, trichinosis) -Vitamin D deficiency, vitamin E or A toxicity -Metabolic disorder (e.g., glycogen and lipid storage diseases)
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• If heart (cardiac) muscle is affected in later stages of disease, abnormal heart rhythms or weakness of the heart muscle (cardiomyopathy) may develop. A patient with cardiomyopathy is at risk for congestive heart failure.
• -When the muscles involved in breathing weaken, there may be significant breathing difficulties and increased risk for pneumonia, flu, and other respiratory infections. In severe cases, patients may require a machine that assists breathing (respirator). When swallowiIf heart (cardiac) muscle is affected in later stages of disease, abnormal heart rhythms or weakness of the heart muscle (cardiomyopathy) may develop. A patient with cardiomyopathy is at risk for congestive heart failure.
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Clinical and Neurological Evaluation Some of the early symptoms associated with myopathies include muscle weakness, muscle pain or tenderness, muscle pain during exercise, and muscle fatigue. Some may fall a lot, have trouble walking, or may experience difficulty getting out of a chair.
Various signs and symptoms the physician looks for include the following:
-Endocrine abnormalities -Heart problems -Mental dysfunction Muscle weakness that occurs in any particular pattern -Muscular shrinkage (atrophy) -Skin rash The neurological exam involves testing the following: -Ability to rise from sitting -Ability to walk -Coordination -Deep tendon reflexes (the knee jerk reaction)
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INVXBlood Tests
1- CK, LDH, PK.2-hormone excesses or deficiencies.3-Antibodies found in the blood might indicate an inflammatory myopathy.
* Electromyogram * Muscle Tissue Biopsy
A muscle biopsy involves surgically removing a very small amount of tissue to be examined under the microscope and analyzed for cellular and protein abnormalities
* Muscle MRI
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Distinguishing Features in Proximal Weakness
Myasthenia Myopathy Neuropathy
↔ ↓ or absent Absent Tendon Reflexes
↔Brief, small-amplitude, polyphasic
Fasciculations; denervation;
amplitude; polyphasic
EMG
Abnormal repetitive
stimualtion↔ ↔ or mildly ↑ NCS
↔ ↑ ↔ or mildly ↑ [CK]
↔
Fiber necrosis, fatty
replacement, excessive collagen
Group atrophy Muscle Biopsy
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The Bones
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• Undernutrition• Deficient sun exposure• Limbs deformities (bow legs,
knock knees)
C/P Suggesting Bone Causes
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• Small head• Scanty hair• Frontal bossing• Craniotabes• Rickety rosary• Expansion of metaphyses• Bowing of bones• Hypotonia
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Invx
• Bone profile: Ca, Phosphate, ALP• X-Rays of bones• Bone scan• Renal Function Test
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