《RETT SYNDROME AN UPDATE》专家PPT内容预览：
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《RETT SYNDROME AN UPDATE》专家PPT内容简介
    SUMMARY
    Background
    Recognition of Rett syndrome
    Management of Rett Syndrome

    RETT SYNDROME
    Described in 1966 by Andreas Rett
    First described in English by Hagberg in 1983
    1999 – mutations in MECP2 gene reported
    Methyl CpG binding protein 2
    CDKL5 cyclin-dependent kinase like 5
    Netrin G1
    1 in 10000 females

    RETT PHENOTYPE
    Rett syndrome
    Normal early development*
    Withdrawn autistic behaviour; loss of language
    Loss of hand-skills; stereotypic hand movements
    Deceleration of head growth
    Seizure disorder
    Progressive course with well described stages
    Caution re prognosis as broader phenotype recognised

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