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Research

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

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

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...

Research

Twenty years of surveillance in Rett syndrome: what does this tell us?

This study aimed to describe overall survival and adult health in those 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.

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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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Changes in risk factors for preterm birth in Western Australia 1984-2006

Marked increases in maternal age and primiparous births were observed. A four-fold increase in the rates of pre-existing medical complications over time...

Research

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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Charting developmental trajectories from 12 to 36 months and associated early risk and protective factors

To investigate developmental trajectories in early childhood and predictors of class assignment.

Research

Associations between genotype, phenotype and behaviours measured by the Rett syndrome behaviour questionnaire in Rett syndrome

Rett syndrome (RTT) is a rare neurodevelopmental disorder with developmental impairments, comorbidities, and abnormal behaviours such as hand stereotypies and emotional features. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed to describe the behavioural and emotional features of RTT.