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To explore patterns of parafunction, and bruxism, and its relationships with genotype and snoring in individuals with Rett syndrome.
Rett syndrome (RTT) is a complex neurodevelopmental X-linked disorder associated with severe functional impairments and multiple comorbidities. There is wide variation in the clinical presentation, and because of its unique characteristics, several evaluation tools of clinical severity, behavior, and functional motor abilities have been proposed specifically for it.
Rett syndrome (RTT) is a severe neurodevelopmental disorder associated with multiple neurobehavioral abnormalities. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed for pediatric RTT observational studies. Because its application has expanded to adult and interventional studies, we evaluated the RSBQ's psychometric properties in six pediatric (n = 323) and five adult (n = 309) datasets.
Senior Research Fellow
Head, Child Disability
Improving the lives of children with a disability and their families sits at the core of our team.
We interviewed 17 parents with a daughter with Rett syndrome to gain their perspectives on how their daughter communicates and barriers.
This study explored relationships between speech and language abilities in girls with Rett syndrome and how they may be affected by the type of genetic mutation
We hypothesised that MECP2 mutations occur predominantly on the male derived X chromosome.
We investigated the factors that may affect the age at diagnosis for girls and woman with Rett syndrome.