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Research

Day occupation is associated with psychopathology for adolescents and young adults with Down syndrome

In comparison to those young adults attending open employment from 2009 to 2011, those attending day recreation programs were reported to experience...

Research

Community participation: Conversations with parent-Carers of young women with Rett syndrome

In this paper, the issue of people with profound intellectual and multiple disabilities facing significant challenges to participating in their community is...

Research

Relationship between family quality of life and day occupations of young people with Down syndrome

This study aimed to explore relationships between family quality of life, day occupations and activities of daily living of young persons with Down syndrome.

Research

Early development and regression in Rett syndrome

Our findings provide additional insight into the early clinical profile of Rett syndrome.

Research

Evaluating the Extent of Clinical Uncertainty Among Treatment Options for Patients with Early-Onset Scoliosis

The objective of this study was to evaluate areas of clinical uncertainty among pediatric spine surgeons regarding the treatment of early-onset scoliosis.

Research

The phenotype associated with a large deletion on MECP2

Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene.

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Functioning and post-school transition outcomes for young people with Down syndrome

Our analysis shows that functioning in activities of daily living was related to post-school day occupation. Current health status and behaviour were found...

Research

A process and impact evaluation of use of a Powered Wheelchair Standing Device by boys with Duchenne muscular dystrophy

Graham Jenny Peter Hall Downs Jacoby BAppSci PhD CRFS FANZSRS FThorSoc FERS BApplSci (physio) MSc PhD BA (Hons) MSc Honorary Research Associate

Research

Establishing a national platform for the provision of evidence based practice in Prader-Willi syndrome

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

Research

International Rett syndrome study: InterRett

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