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Predictors of Scoliosis in Rett Syndrome

Centre for Child Health Research The University of Western Australia Telethon Institute for Child Health Research Perth, Western Australia School of Anatomy and Human Biology The University of Western Australia Perth, Western Australia

Susan Fyfe, PhD

Division of Health Sciences Curtin University of Technology Perth, Western Australia

John Christodoulou, PhD

Western Sydney Genetics Program Children's Hospital at Westmead Sydney, New South Wales Discipline of Paediatrics and Child Health University of Sydney Sydney, New South Wales

Peter Jacoby, MSc

Centre for Child Health Research The University of Western Australia Telethon Institute for Child Health Research Perth, Western Australia

Lincoln Schmitt, PhD

School of Anatomy and Human Biology The University of Western Australia Perth, Western Australia

Helen Leonard, MBChB

Centre for Child Health Research The University of Western Australia Telethon Institute for Child Health Research Perth, Western Australia, hleonard{at}ichr.uwa.edu.au.

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. (J Child Neurol 2006;21: 809—813; DOI 10.2310/7010.2006.00183).

Journal of Child Neurology, Vol. 21, No. 9, 809-813 (2006)
DOI: 10.1177/08830738060210091501


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