Trisomy 21.docx
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Trisomy 21 (Down syndrome)
Note up-slanting palpebral fissures, bilateral
epicanthal folds, small nose with flat nasal
bridge, open mouth with tendency for
tongue protrusion, and small ears with
overfolded helix.
Characteristic flat facies with hypertelorism,
depressed nasal bridge, and protrusion oftongue, as well as single palmar simian
crease in 2-year-old girl with Down
syndrome.
Hypodontia in patient with Down
syndrome.
Small auricle and anomalies of folds.
Protuberant abdomen and umbilical hernia.
Wide gap between first and second toes and
onychomycosis.
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Attention-Deficit Hyperactivity Disorder
Children with ADHD find it more difficult to
focus and to complete their schoolwork.
Children with ADHD tend to get distracted
from schoolwork rather easily, and they often
behave disruptively
Causes:
Genetics
The involved genes or chromosomes arenot definitively known. Vulnerability to
ADHD may be due to many genes of
small effect.
Environment
Hypotheses exist that include in utero
exposures to toxic substances, foodadditives or colorings, or allergic causes.
However, diet, especially sugar, is not a
cause of ADHD.
Personality factors
Although there remains much evidence
for the genetic etiology of ADHD, one
study indicated that the contribution of
personality aspects in combination with
genetics may be significant. Specifically,the presence of high neuroticism and low
conscientiousness in conjunction with
genetic vulnerability may constitute a risk
factor in the expression of ADH
Manifestations of ADHD:
appears to daydream, has troublemaintaining attention (unless the subject
is something of interest)
easily distracted (again, unless the subjectis something of interest)
difficulty following directions andcompleting tasks
doesn`t like and avoids tasks requiringsustained mental focus (including
schoolwork)
enjoys loud, excessive play has trouble with short term/mid term
memory, often forgetting details,doesn't
grasp monetary values
appears to ignore or not hear when spokento (exceptionally selective hearing)
constantly on the move, can't sit still,fidgets
has no concept of time compulsive, speaks and/or acts before
thinking
verbose (talks non-stop) difficulty waiting turns, interrupts or
disrupts conversations and activities
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Autism
Repetitively stacking or lining up objects is a
behavior sometimes associated with
individuals with autism.
A young boy with autism who has arranged
his toys in a row
Manifestations of Autism:
LANGUAGE AND COMMUNICATION.- The child may not babble, may be mute
- The development of speech and language
may be abnormally delayed or absent
- May act as though deaf /or not respond when
called by name or even by gesture.
- May echo or repeat words, phrases,
sentences /or gestation over and over again.
- Facial expressions and gestures may be
unusual or absent.
- Incorrect understanding of speech - words
may be used incorrectly.
- A flat monotonous tone or inappropriate van
ate in tone are observed.- Difficulty in initiating and/or sustaining
conversations.
SOCIAL INTERACTION
- Prefer to play alone
- Little awareness of other or of their feelings.
- Difficulty in forming relationships
- Indifference to or dislike being hugged.
- Aloofness and indifference to other although
most show an attachment in a simple level of
family.
BEHAVIOUR AND IMAGINATION
- Symbolic or imagination play may be absent.
- May be routine bound. Insist on sameness
and resist change
- Inappropriate use of toys in play
- Morbid attachment to objects-may hold onto
a teddy for the whole day.
- Throw tantrums, screams often for no
apparent reason.
- A tendency to focus on minor or trivial
aspects of thing in the environment instead of
being aware of the meaning of the complete
situation.
- Hyperactivity or under-activity.
- Laughing for no reason
- Some may have exceptional abilities e. g out
standing memory of music etc.