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In order to help doctors and families reduce the risk of fractures, we developed clinical guidelines for managing bone health in Rett syndrome.
We compared information on the life expectancy of Dr Rett's original group in 1966 with information in the Australian Rett Syndrome Database.
We investigated the occurrence of different types of hand stereotypies and whether they were more frequent in one hand or the other.
Research
Parental experiences of scoliosis management in Rett syndromeScoliosis is the most common orthopaedic complication of Rett syndrome. Parents of affected individuals are vital partners in the clinical management...
Research
Sleep problems in Rett syndromeSleep problems are thought to occur commonly in Rett syndrome, but there has been little research on prevalence or natural history.
Research
Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male probandComprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations...
Research
The experiences of mothers of young adults with an intellectual disability transitioning from secondary school to adult lifeThe transition from school to adulthood for young adults with an intellectual disability involves movement from a generally secure and supported school...
News & Events
New insight into Rett syndrome severityA research collaboration between Australia and Israel has identified a genetic variation that influences the severity of symptoms in Rett syndrome.
News & Events
New guidelines a model for better management of rare conditionsNew guidelines a model for better management of rare conditions
Be involved in the Sibling Snapshot Project! Researchers from The Kids Research Institute Australia are conducting research which explores the unique