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Research
InterRett, a model for international data collection in a rare genetic disorderThis study compared socio-demographic, clinical and genetic characteristics of the international database, InterRett, and the population-based Australian...
Research
Correlation between clinical severity in patients with Rett syndromeRett 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 epidemiologyTo examine the prevalence, cumulative incidence, and survival in an Australian cohort with Rett syndrome (RTT).
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Linking MECP2 and pain sensitivity: the example of Rett syndromeThis study investigated the nature and prevalence of atypical pain responses in Rett syndrome and their relationships with specific MECP2 mutations.
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International award for Rett syndrome researchA 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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Sleep problems in Rett syndromeSleep problems are thought to occur commonly in Rett syndrome, but there has been little research on prevalence or natural history.
Research
Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male probandComprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations...
Research
Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidenceTo develop guidelines for the clinical management of scoliosis in Rett syndrome through evidence review and consensus expert panel opinion.