《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Withdrawn autistic behaviour; loss of language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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