《RETT-SYNDROME-101SoutheastRSAlliance》专家PPT内容预览
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《RETT-SYNDROME-101SoutheastRSAlliance》专家PPT内容简介
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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