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Research

The Risk of Neurodevelopmental Disabilities in Children of Immigrant and Refugee Parents: Current Knowledge and Directions for Future Research

We investigated the literature from 2002 to 2016 describing the risk of ASD, intellectual disability and ADHD in children of refugee and immigrant backgrounds.

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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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Risk of Mortality into Adulthood According to Gestational Age at Birth

To quantify the independent risks of neonatal, postneonatal, 1 to 5 and 6 to 30 year mortality by gestational age and investigate changes in survival over time.

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Mothers of Children with Autism have Different Rates of Cancer According to the Presence of Intellectual Disability in Their Child

Mothers of children with autism without ID had increased risk of cancer, which may relate to common genetic pathways

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Maternal mental health and risk of child protection involvement: Mental health diagnoses associated with increased risk

This WA data linkage study aims to assess whether maternal mental health problems are associated with worse child development outcomes, children’s safety and...

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The increasing prevalence of reported diagnoses of childhood psychiatric disorders: a descriptive multinational comparison

The objective of this study is to compare the time trend of reported diagnoses of autism spectrum disorder, hyperkinetic disorder, Tourette's syndrome, and...

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CDKL5 deficiency disorder: clinical features, diagnosis, and management

CDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy.

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A brief history of MECP2 duplication syndrome: 20-years of clinical understanding

MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene-a gene in which loss-of-function mutations lead to Rett syndrome (RTT). MDS has an estimated live birth prevalence in males of 1/150,000.

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Rett syndrome: establishing a novel outcome measure for walking activity in an era of clinical trials for rare disorders

This study investigated the capacity of three accelerometer-type devices to measure walking activity in Rett syndrome

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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