RETT SYNDROME website version
《RETT SYNDROME website version》內容預覽:
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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
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Withdrawn autistic behaviour; loss of language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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