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Health conditions and their impact among adolescents and young adults with down syndromeThe 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...
Research
Family satisfaction following spinal fusion in Rett syndromeFamilies 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 DisordersThis study utilised a Western Australian (WA) genealogical database for the identification of single gene and chromosome disorders among families.
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Adapting a measure of gross motor skills for individuals with CDKL5 deficiency disorder: A psychometric studyValidated measures capable of demonstrating meaningful interventional change in the CDKL5 deficiency disorder (CDD) are lacking. The study objective was to modify the Rett Syndrome Gross Motor Scale (RSGMS) and evaluate its psychometric properties for individuals with CDD.
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The cost of respiratory hospitalizations in children with cerebral palsyTo establish the burden of respiratory illness in cerebral palsy (CP) on the Western Australian health care system by quantifying the costs of respiratory hospitalizations in children with CP, compared with non-respiratory hospitalizations.
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Substances Detected During Coroner Postmortem Toxicology Analyses in Poisoning- and Nonpoisoning-Related SuicidesDetermining the association between drug use and suicide is complicated but can help to inform targeted suicide prevention strategies.
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Young adult outcomes following premature birth: A Western Australian experienceChildhood outcomes following preterm birth are widely published, however long-term adult outcomes are less well described. We aimed to determine the quality of life and burden of co-morbidities experienced by preterm-born young adults in Western Australia.
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The impact for DCD – USA study: The current state of Developmental Coordination Disorder (DCD) in the United States of AmericaDevelopmental Coordination Disorder (DCD) is among the most under-recognized and under-supported disorders worldwide. The aim of this study was to present a preliminary national study that evaluated the unmet needs of children with DCD in the USA using the Impact for DCD survey.
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Resting Energy Expenditure and Metabolic Features in Children With Septo-Optic DysplasiaSepto-optic dysplasia (SOD) is a major cause of congenital hypopituitarism and is known to be associated with overweight and obesity in up to 44% of children. Given the role of the hypothalamus in hormonal regulation, we sought to assess the association of resting energy expenditure (REE), appetite and physical activity with SOD.
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Online health literacy resources for people with intellectual disability: protocol for a grey literature scoping reviewPeople with intellectual disability are at risk of poor physical and mental health. Risks to health are compounded by poor health literacy, that is, reduced capacity to access health services, respond quickly to changes in health status and navigate care pathways. Building health literacy skills is a strength-based way to increase health and optimise the use of healthcare services. The internet is a primary source of health information for many people, including people with intellectual disability and their families.