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Research

Systematic Review and Meta-analysis: Mental Health in Children

The behavioral phenotype of neurogenetic disorders associated with intellectual disability often includes psychiatric comorbidity. The objectives of this systematic review and meta-analysis were to systematically review the prevalence of psychiatric disorders and symptoms in children and adolescents

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Epidemiology of gastrostomy insertion for children and adolescents with intellectual disability

Gastrostomy is increasingly used in multiple neurological conditions associated with intellectual disability, with no apparent accessibility barriers

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Investigating falls in adults with intellectual disability living in community settings and their experiences of post-fall care services

This study will determine the rate of falls among older adults with ID living in community based settings, which will assist to identify the extent of this problem

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Measurement of Sedentary Behaviors or "downtime" in Rett Syndrome

This study aimed to validate measures of sedentary time in individuals with Rett syndrome.

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Overview of health issues in school-aged children with Down Syndrome

Overview of Health Issues in School-aged Children with Down Syndrome

Tourette Syndrome

Tourette syndrome is a neurodevelopmental disorder characterised by uncontrollable movements and vocalisations known as tics.

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Towards a molecular characterization of autism spectrum disorders: An exome sequencing and systems approach

This paper profiles the functional pattern of DNA variants found at a higher rate in patients with autism spectrum disorder (ASD), X-linked intellectual...

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Community participation for girls and women living with Rett syndrome

This paper aimed to describe the relationships between level of impairment and participation in community activities for girls and women with Rett syndrome.

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X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Systematic sequencing of all X-chromosomal genes in patients with genetic evidence for X-chromosome locus involvement may resolve 58% of Fragile X-negative cases

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Impact of prenatal screening and diagnostic testing on trends in Down syndrome births and terminations in Western Australia 1980 to 2013

To assess how prenatal screening and diagnostic testing have impacted the diagnosis, termination and birth prevalence of Down syndrome in Western Australia...