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Research

Comorbidities and quality of life in children with intellectual disability

Many children with intellectual disability live with medical comorbidities. This study examined the impacts of comorbidities on quality of life (QOL) of children with intellectual disabilities and whether impacts varied with caregiver perceptions that medical needs had been met.

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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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The perceived effects of cannabis products in the management of seizures in CDKL5 Deficiency Disorder

CDKL5 Deficiency Disorder (CDD) is a severe treatment-resistant form of early-onset epilepsy. Current treatment options are often ineffective and associated with adverse effects, forcing families to seek alternative therapies for their children including products derived from cannabis. Reportsof miraculous cures and a public preferencefor 'natural' therapies have resulted in considerable public interest, and so this study aimed to characterize the use of cannabis in these individuals, as well as compare caregiver perceptions of efficacy and safety to objective evidence of seizure control and number of antiepileptic drugs used.

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The effects of JASPER intervention for children with autism spectrum disorder: A systematic review

Naturalistic developmental behavioural interventions are promising approaches for young children with, or suspected of having, autism spectrum disorder. Joint attention, symbolic play, engagement and regulation intervention (JASPER) is a well-researched naturalistic developmental behavioural intervention but, to date, no reviews have specifically evaluated its effects.

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Validating the rett syndrome gross motor scale

The Rett Syndrome Gross Motor Scale could be an appropriate measure of gross motor skills in clinical practice and clinical trials

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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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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 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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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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Resting Energy Expenditure and Metabolic Features in Children With Septo-Optic Dysplasia

Septo-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.