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Research

Adapting a measure of gross motor skills for individuals with CDKL5 deficiency disorder: A psychometric study

Validated 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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Online health literacy resources for people with intellectual disability: protocol for a grey literature scoping review

People 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. 

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Pregnancy and birth outcomes of mothers with intellectual disability and their infants: Advocacy needed to improve well-being

For mothers with intellectual disability, modifiable risk factors for adverse outcomes need addressing

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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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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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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.

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The experiences of mothers of young adults with an intellectual disability transitioning from secondary school to adult life

The transition from school to adulthood for young adults with an intellectual disability involves movement from a generally secure and supported school...

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Maternal Conditions and Perinatal Characteristics Associated with Autism Spectrum Disorder and Intellectual Disability

Findings show that indicators of a poor intrauterine environment are associated with an elevated risk of ID, while for ASD, and particularly ASD without ID,...