title: Predictors of scoliosis in Rett syndrome.
abstract: Scoliosis is a common clinical manifestation of Rett syndrome, a neurodevelopmental disorder that almost exclusively affects girls. Following apparently normal development, these girls typically regress and lose previously attained cognitive, social, and motor skills. Severe intellectual and physical disabilities remain throughout life. Mutations in the methyl-CpG-binding protein 2 gene, MECP2, are detected in approximately 80% of cases and are associated with phenotypic variability. Population-based data on Australian cases were used to study the association between early developmental and genetic factors and the onset of scoliosis. The median age at scoliosis onset was 9.80 years, and three quarters of subjects had developed scoliosis by 13 years of age. Children with compromised early development before 6 months, those who were less mobile at 10 months, and those who never walked were more likely to have an earlier onset of scoliosis. When seven common point mutations and large genomic and C-terminal deletions were compared, the R294X mutation appeared to provide some protective effect against the development of scoliosis.
authors.affiliation: Telethon Institute for Child Health Research and Centre for Child Health Research, University of Western Australia, West Perth, WA 6872, Australia.
authors.forename: Sarah
authors.initials: S
authors.lastname: Ager
authors.forename: Susan
authors.initials: S
authors.lastname: Fyfe
authors.forename: John
authors.initials: J
authors.lastname: Christodoulou
authors.forename: Peter
authors.initials: P
authors.lastname: Jacoby
authors.forename: Lincoln
authors.initials: L
authors.lastname: Schmitt
authors.forename: Helen
authors.initials: H
authors.lastname: Leonard
mesh_terms: D000293:Adolescent; D000367:Age Factors; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D006801:Humans; D007223:Infant; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics; D009154:Mutation; D016016:Proportional Hazards Models; D012042:Registries; D015518:Rett Syndrome / Q000150:complications* / Q000235:genetics; D012307:Risk Factors; D012600:Scoliosis / Q000175:diagnosis* / Q000209:etiology* / Q000235:genetics
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2