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.