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Research

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

Research

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

Research

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

Research

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

Research

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

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A Perth medical researcher responsible for major advancements in the understanding of the neurological disorder Rett syndrome has had her efforts recognised

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Research

Validated measures capable of demonstrating meaningful interventional change in the CDKL5 deficiency disorder (CDD) are lacking. The study objective was to modify the Rett Syndrome Gross Motor Scale (RSGMS) and evaluate its psychometric properties for individuals with CDD.

Research

Eye gaze is used more frequently than gestures for communication, and this is related to age, MECP2 mutation type, and gross motor abilities