RETT SYNDROME AN UPDATE
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《RETT SYNDROME AN UPDATE》專(zhuān)家PPT內容簡(jiǎn)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Withdrawn autistic behaviour; loss of language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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