Journal article

The Natural History of Scoliosis in Females With Rett Syndrome

Jennepher Downs, Ian Torode, Kingsley Wong, Carolyn Ellaway, Elizabeth J Elliott, John Christodoulou, Peter Jacoby, Margaret R Thomson, Maree T Izatt, Geoffrey N Askin, Bruce I McPhee, Corinne Bridge, Peter Cundy, Helen Leonard



STUDY DESIGN: Population-based longitudinal observational study. OBJECTIVE: To describe the prevalence of scoliosis in Rett syndrome, structural characteristics and progression, taking into account the influences of age, genotype, and ambulatory status. SUMMARY OF BACKGROUND DATA: Scoliosis is the most common orthopedic comorbidity in Rett syndrome yet very little is known about its natural history and influencing factors such as age, genotype, and ambulatory status. METHODS: The infrastructure of the Australian Rett Syndrome Database was used to identify all cases with confirmed Rett syndrome in Australia and collect data on genotype and walking status. We identified radiological records an..

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Awarded by National Institutes of Health

Awarded by National Health and Medical Research Council (NHMRC)

Funding Acknowledgements

The National Institutes of Health ( 5R01HD043100-05) and the National Health and Medical Research Council (NHMRC) project grants #303189, and #1004384 and an NHMRC program grant #572742 were received previously to support this work. Professor Helen Leonard's funding (2009-2014) was from an NHMRC Senior Research Fellowship #572568. Professor Elizabeth J Elliott is supported by an NHMRC Practitioner Fellowship #457084.