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Research

The International Collaboration for Autism Registry Epidemiology (iCARE): Multinational Registry-Based Investigations of Autism Risk Factors and Trends

iCARE provides a unique, unprecedented resource in autism research that will significantly enhance the ability to detect environmental and genetic...

Research

Resourceful and creative methods are necessary to research rare disorders

Our investigation used the infrastructure of InterRett, established in 2002 with dual aims of encour- aging international collaboration and ascertaining the...

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.

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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...

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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.

Research

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.

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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

Implementing Telehealth support to increase physical activity in girls and women with Rett syndrome

Helen Jenny Leonard Downs HM JA MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956