Authors:
Ager S, Fyfe S, Christodoulou J, Jacoby P, Schmitt L, Leonard H
Authors notes:
Journal of Child Neurology. 2006; 21(9):809-813
Keywords:
Predictors, scoliosis, 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.