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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).
The Sibling Project focuses on children, adolescents and emerging adults who have a sibling with a disability, investigating their mental health, relationships and quality of life.
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.
We want to hear from siblings living outside of Australian cities!
Research
Rett Syndrome: Revised diagnostic criteria and nomenclatureThe purpose of this work was to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials.
Improving the lives of children with a disability and their families sits at the core of our team.
Research
Rett Syndrome Behaviour Questionnaire: Variability of Scores and Related FactorsRett syndrome (RTT) is a severe neurodevelopmental disorder affecting predominantly females and associated with variants in the MECP2 gene. Recent success in clinical trials have resulted in an expanded use of the Rett Syndrome Behaviour Questionnaire (RSBQ) for clinical and research purposes.
Research
Associations between genotype, phenotype and behaviours measured by the Rett syndrome behaviour questionnaire in Rett syndromeRett syndrome (RTT) is a rare neurodevelopmental disorder with developmental impairments, comorbidities, and abnormal behaviours such as hand stereotypies and emotional features. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed to describe the behavioural and emotional features of RTT.