RETT SYNDROME website version分析课件.pptVIP

RETT SYNDROMEAN UPDATE Rosemary Marks Developmental Paediatrician Starship Childrens Hospital 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cyclin-dependent kinase like 5 Netrin G1 1 in 10000 females RETT PHENOTYPE Rett syndrome Normal early development* Withdrawn autistic behaviour; loss of language Loss of hand-skills; stereotypic hand movements Deceleration of head growth Seizure disorder Progr