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Research

Predictors of seizure onset in Rett syndrome

Information on presence and age at onset of seizures, perinatal and developmental history, and genetic status was abstracted on 275 cases in the Australian...

Research

Characteristics of non-Aboriginal and Aboriginal children and families with substantiated child maltreatment

To investigate specific child and parental factors associated with increased vulnerability to substantiated child maltreatment.

Research

Trends in the diagnosis of Rett syndrome in Australia

Modifications to diagnostic criteria and introduction of genetic testing have likely affected the pattern and timing of Rett syndrome diagnosis...

Research

Longitudinal hand function in Rett syndrome

Loss of hand function is a core feature of Rett syndrome. This article describes longitudinal hand function at 3 time points for 72 subjects participating...

Research

The conductive environment enhances gross motor function of girls with Rett syndrome. A pilot study

This study assessed the functional skills of three girls with RTT aged 35 years before and during participation in a CE programme.

Research

Early mortality and primary causes of death in mothers of children with intellectual disability or Autism spectrum disorder

Mothers of children with intellectual disability or autism spectrum disorder (ASD) have poorer health than other mothers.

Research

Using a large international sample to investigate epilepsy in Rett syndrome

The aim of this study was to identify characteristics of epilepsy in Rett syndrome (RTT), and relationships between epilepsy and genotype.

Research

Assessment and management of nutrition and growth in rett syndrome

We developed recommendations for the clinical management of poor growth and weight gain in Rett syndrome through evidence review and the consensus of an...

Research

“I have a good life”: the meaning of well-being from the perspective of young adults with Down syndrome

The purposes of this study were to explore what makes for a "good life" from the perspective of young adults with Down syndrome and to identify the barriers...