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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...

News & Events

Funding to support research into the impact of standing wheelchairs

The Kids researchers are investigating the physical and psychological impacts of powered standing wheelchairs for boys suffering from Duchenne

Research

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

Helen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 946 08

Research

Multigenerational Familial and Environmental Risk for Autism (MINERvA) Network

Emma Helen Glasson Leonard BPsych BSc (Hons) PhD MBChB MPH Senior Research Fellow Principal Research Fellow +61 419 956 946 emma.glasson@

Research

A comparison of autism prevalence trends in Denmark and Western Australia

Prevalence statistics for autism spectrum disorders (ASD) vary widely across geographical boundaries. Some variation can be explained by diagnostic methods...

Research

The impact of single gene and chromosomal disorders on hospital admissions of children and adolescents: A population-based study

It is well recognized that genetic disease makes a significant contribution to childhood illness. Here, we present recent population data describing...

Research

The use of cross-jurisdictional population data to investigate health indicators of child maltreatment

To investigate the prevalence, trends, and characteristics of maltreatment and assault related hospital admissions and deaths among children

Research

Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome

There is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors.