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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

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.

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Impact of scoliosis surgery on activities of daily living in females with Rett syndrome

Scoliosis is a common orthopaedic complication of Rett syndrome, and surgery is commonly used to reduce asymmetry in cases with severe scoliosis.

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

Parent-reported health-related quality of life of children with Down syndrome: A descriptive study

To describe health-related quality of life of Australian children and adolescents with Down syndrome and compare it with norm-referenced data.

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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.

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A framework for understanding quality of life domains in individuals with the CDKL5 deficiency disorder

This study aimed to identify the quality of life domains important for individuals with CDKL5 deficiency disorder

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Population-based prevalence of intellectual disability and autism spectrum disorders in Western Australia

The prevalence of intellectual disability has risen in WA over the last 10 years with most of this increase due to mild or moderate intellectual disability

Research

Parental perspectives on the communication abilities of their daughters with Rett syndrome

Perspectives of parents are integral to the assessment of communication abilities and inform communication interventions for girls and women with Rett Syndrome