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Research

Factors influencing participation in home, school, and community settings by children and adolescents with neuromuscular disorders: A qualitative descriptive study

This study explored how children and adolescents with a neuromuscular disorder (NMD) and their parents experienced barriers and enablers to the child's participation.

Research

Vagus nerve stimulation for the treatment of refractory epilepsy in the CDKL5 Deficiency Disorder

Our study suggests that vagus nerve stimulation is a generally safe and effective adjunct treatment for CDKL5-associated epilepsy

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What effect does regular exercise have on oxidative stress in people with Down syndrome? A systematic review with meta-analyses

There remains uncertainty about the effect of exercise on oxidative stress in people with Down syndrome

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Use of health services in the last year of life and cause of death in people with intellectual disability: a retrospective matched cohort study

People with intellectual disability were more likely to experience potentially preventable conditions at the end of their lives

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Overnight monitoring of sleep biomechanics: A scoping review

Body position and movement during sleep is assessed for both clinical and research purposes. A diverse array of both assessment tools and classification systems are used to capture and code sleep biomechanics data.

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Evolving Trends of Gastrostomy Insertion Within a Pediatric Population

New gastrostomy insertion among children who require long-term enteral feeding support increased over the study period

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Intellectual disability in children conceived using assisted reproductive technology

The risk of intellectual disability was increased in children born after assisted reproductive technology in Western Australia from 1994 to 2002

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The trajectories of sleep disturbances in Rett syndrome

This paper demonstrated that the evolution of sleep problems differed between subgroups of girls and women with Rett syndrome, in part explained by age and...

Research

Family functioning in families with a child with Down syndrome: A mixed methods approach

This study aimed to explore the factors that predict functioning in families with a child with Down syndrome using a mixed methods design.

Research

Measuring use and cost of health sector and related care in a population of girls and young women with Rett syndrome

This study measured use and cost of health sector and related services in Rett syndrome and effects of socio-demographic, clinical severity and genetic...