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Research

Does gastrostomy improve the lives of children with severe disability and their families?

Approximately 13,000 children in Australia live with moderate to severe intellectual disability.

Research

Towards evidence based care for Rett syndrome: a research model to inform management of rare disorders

Helen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763

Research

Intellectual disability: Population-based estimates of the proportion attributable to maternal alcohol use disorder during pregnancy

The aim of this study was to examine the association between maternal alcohol use disorder and intellectual disability in children.

Research

Initial assessment of the StepWatch Activity Monitorâ„¢ to measure walking activity in Rett syndrome

In girls and women with Rett syndrome, we assessed the accuracy of the StepWatch Activity Monitorâ„¢ and investigated relationships between daily step counts,...

Research

The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome population

This study aimed to investigate the trajectories over time of health status and health service use in Rett syndrome by mutation...

Research

Bone mineral content and density in Rett syndrome and their contributing factors

This study used densitometry to investigate the areal bone mineral density (aBMD) and bone mineral content (BMC) in an Australian Rett syndrome cohort...

Research

Variation over time in medical conditions and health service utilization of children with Down syndrome

Variation over time in medical conditions and health service utilization of children with Down syndrome.