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《RETT-SYNDROME-101SoutheastRSAlliance》專(zhuān)家PPT內(nèi)容預(yù)覽
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《RETT-SYNDROME-101SoutheastRSAlliance》專(zhuān)家PPT內(nèi)容簡(jiǎn)介
    RETT SYNDROME A NEURODEVELOPMENTAL DISORDER OF YOUNG FEMALES CHARACTERIZED BY
    PROFOUND COGNITIVE IMPAIRMENT
    COMMUNICATION DYSFUNCTION
    STEREOTYPIC MOVEMENTS
    PERVASIVE GROWTH FAILURE

    RETT SYNDROME WHAT DO WE KNOW?
    GENETIC DISORDER MAINLY IN FEMALES
    VARIABLE CLINICAL EXPRESSION
    PERVASIVE GROWTH FAILURE
    SIGNIFICANT LONGEVITY
    CONSISTENT NEUROPATHOLOGY
    >95% OF FEMALES MEETING CONSENSUS CRITERIA HAVE MECP2 MUTATIONS 

    RETT SYNDROME CONSENSUS CRITERIA - 2001
    Normal at birth
    Apparently normal early development (may be delayed from birth)
    Postnatal deceleration of head growth in most
    Lack of achieved purposeful hand skills 
    Psychomotor regression: Emerging social withdrawal, communication dysfunction, loss of learned words, and cognitive impairment 
    Stereotypic movements: Hand washing/wringing/squeezing; Hand clapping/tapping/rubbing; Hand mouthing
    Gait dysfunction: Impaired (dyspraxic) or failing locomotion

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