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Research

Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database

Stereotypic hand movements are a feature of Rett Syndrome but few studies have observed their nature systematically.

Research

Overview of health issues in school-aged children with Down Syndrome

Overview of Health Issues in School-aged Children with Down Syndrome

Research

InterRett, a model for international data collection in a rare genetic disorder

This study compared socio-demographic, clinical and genetic characteristics of the international database, InterRett, and the population-based Australian...

Research

Feeding experiences and growth status in a Rett syndrome population

Feeding difficulties in Rett syndrome are complex and multifactorial. In this study, we describe the feeding experiences in Rett syndrome and examine the...

Research

Correlation between clinical severity in patients with Rett syndrome

Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that is usually associated with mutations in the MECP2 gene.

Research

Rett syndrome in Australia: a review of the epidemiology

To examine the prevalence, cumulative incidence, and survival in an Australian cohort with Rett syndrome (RTT).

Child Disability

Improving the lives of children with a disability and their families sits at the core of our team.

Research

Survival of children and adolescents with intellectual disability following gastrostomy insertion

Whilst gastrostomy insertion was associated with lower survival rates than children without gastrostomy, survival improved with time

Research

Epidemiology of gastrostomy insertion for children and adolescents with intellectual disability

Gastrostomy is increasingly used in multiple neurological conditions associated with intellectual disability, with no apparent accessibility barriers