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Genetic analysis reveals range of Rett syndromeThe first comprehensive analysis of the clinical effects of genetic mutations involved in Rett syndrome
Research
The Sibling ProjectThe Sibling Project focuses on the wellbeing, relationships and needs of children, adolescents and emerging adults who have a sibling with a developmental disability.
Our vision is to increase awareness and improve outcomes for children with movement disorders and other neurodevelopmental conditions impacting on motor function.
Research
Use of equipment and respite services and caregiver health among Australian families living with Rett syndromeThis study assessed factors that could influence equipment and respite services use among Australian families caring for a girl/woman with Rett syndrome and...
Research
Altered attainment of developmental milestones influences the age of diagnosis of rett syndromeThis study describes the attainment of gross developmental milestones and regression, and assesses the relationships between genotype and age at diagnosis.
Research
Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndromeThere is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors.
Research
Hip displacement and scoliosis in Rett syndrome - screening is requiredThe prevalence of hip displacement and spinal deformity in a clinic population of females with Rett syndrome to define implications for screening and management
Research
The impact of having a sibling with an intellectual disability:parental perspectives in two disordersThis study describes the impact of having a sibling with Down syndrome or Rett syndrome using a questionnaire completed by parents.
Research
Physical and mental health of mothers caring for a child with Rett syndromeThis study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome...
We also wanted to find out whether any particular behaviours were associated with any specific mutation types.