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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).
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
Overview of health issues in school-aged children with Down SyndromeOverview of Health Issues in School-aged Children with Down Syndrome
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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.
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Feeding experiences and growth status in a Rett syndrome populationFeeding difficulties in Rett syndrome are complex and multifactorial. In this study, we describe the feeding experiences in Rett syndrome and examine the...
National Siblings Day is a holiday dedicated to celebrating the bond between siblings. It is a time to recognize the importance of siblings, whether they are brothers, sisters, step-siblings, or even those who feel like family.
Improving the lives of children with a disability and their families sits at the core of our team.
We want to hear from siblings living outside of Australian cities!
Research
Multi-site validation of a suite of clinical outcome measures for clinical trial readiness in the CDKL5 Deficiency DisorderHelen Jenny Peter Leonard Downs Jacoby MBChB MPH BApplSci (physio) MSc PhD BA (Hons) MSc Principal Research Fellow Head, Child Disability