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Research

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...

Research

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.

Research

Onset of maternal psychiatric disorders after the birth of a child with autism spectrum disorder: A retrospective cohort study

Mothers of a child with autism spectrum disorder have more psychiatric disorders after the birth of their child.

Research

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...

Research

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

Research

Intellectual disability and other neuropsychiatric outcomes in high-risk children of mothers with schizophrenia, bipolar disorder and unipolar major depression

We examined risk of intellectual disability and other neuropsychiatric outcomes in children of mothers with and without schizophrenia, bipolar or depression.

Research

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.

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

Research

Risk of Hospitalizations Following Gastrostomy in Children with Intellectual Disability

Gastrostomy was associated with health benefits including reduced all-cause and epilepsy hospitalizations, but was not protective against acute LRTI