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Research

Experiences Impacting the Quality of Life of Mothers of Children With Autism and Intellectual Disability

Mothers of autistic children and adults bewtween 11 and 24 years old were interviewed about the impacts and rewards associated with their children's disability.

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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...

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Effect of sitting posture on development of scoliosis in duchenne muscular dystrophy cases

This study assessed the contribution of physical factors including lumbar posture to scoliosis in non-ambulatory youth with DMD in Nepal.

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Health conditions and their impact among adolescents and young adults with down syndrome

The aim of this study was to examine the prevalence of medical conditions and use of health services among young adults with Down syndrome and describe the...

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The triple challenges associated with age-related comorbidities in Down syndrome

Major increases in the survival of people with Down syndrome during the last two generations have resulted in extended periods of adulthood requiring...

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Family satisfaction following spinal fusion in Rett syndrome

Families participating in the population-based and longitudinal Australian Rett Syndrome Database whose daughter had undergone spinal fusion provided data on...

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The Western Australian family connections genealogical project: Detection of familial occurrences of single gene and chromosomal Disorders

This study utilised a Western Australian (WA) genealogical database for the identification of single gene and chromosome disorders among families.

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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.

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Admissions in Children with Down Syndrome: Experience of a Population-Based Cohort Followed from Birth

This study describes patterns of hospitalisations for children and young people with Down syndrome in Western Australia.

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Perspectives on hand function in girls and women with Rett syndrome

Hand function is particularly affected and we discuss theoretical and practical perspectives for optimising hand function in Rett syndrome.