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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

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.

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Factors associated with dental hospitalisations in children with intellectual disability or autism spectrum disorder: a Western Australian population-based retrospective cohort study

This study investigated dental hospitalisations in Western Australian (WA) children with intellectual disability (ID) and/or autism spectrum disorder (ASD) aged up to 18 years.

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Oral health care and service utilisation in individuals with Rett syndrome: an international cross-sectional study

There is a dearth of literature available on the comparative oral health status of those with Rett syndrome (RTT) despite diurnal bruxism being a supportive diagnostic criterion for the disorder. This study was designed to investigate the dental experiences of individuals with RTT in terms of perceived at-home and professional dental care.

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The development of a consensus statement for the prescription of powered wheelchair standing devices in Duchenne muscular dystrophy

PURPOSE: To develop a consensus statement for the prescription of a Powered Wheelchair Standing Device (PWSD) in young people with Duchenne muscular dystrophy (DMD). MATERIALS AND METHODS: An international multidisciplinary panel comprising clinicians and users (young people with DMD) along with their parents was consulted. A literature review was undertaken and a Delphi method was utilised to generate consensus statements.

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A preliminary investigation of the effects of prenatal alcohol exposure on facial morphology in children with Autism Spectrum Disorder

While early exposure to alcohol may influence the development of facial structures, it does not appear to be associated with ASD phenotypic variability

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Content validation of the Quality of Life Inventory—Disability

Satisfactory content validity is reported, where ongoing consumer feedback shaped the dataset from which the final items were selected

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Requirements for improving health and well-being of children with Prader-Willi syndrome and their families

Prader-Willi syndrome (PWS) is a rare genetic condition with multi-system involvement