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This study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous findings in...
Feeding difficulties in Rett syndrome are complex and multifactorial. In this study, we describe the feeding experiences in Rett syndrome and examine the...
Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that is usually associated with mutations in the MECP2 gene.
Information on presence and age at onset of seizures, perinatal and developmental history, and genetic status was abstracted on 275 cases in the Australian...
Scoliosis is a common clinical manifestation of Rett syndrome, a neurodevelopmental disorder that almost exclusively affects girls.
To examine the prevalence, cumulative incidence, and survival in an Australian cohort with Rett syndrome (RTT).
Senior Research Fellow
The most common cause of morbidity and mortality in children with severe cerebral palsy (CP) is respiratory disease. BREATHE-CP (Better REspiratory and Airway Treatment and HEalth in Cerebral Palsy) is a multidisciplinary research team who have conducted research on the risk factors associated with CP respiratory disease, a systematic review on management and a Delphi study on the development of a consensus for the prevention and management of respiratory disease in CP.
The EQ-5D-Y-5L is a generic preference-based measure of health-related quality of life for children. This study aimed to describe the distributional properties, test-retest reliability, and convergent validity of the EQ-5D-Y-5L in children with intellectual disability (ID).
Improving the lives of children with a disability and their families sits at the core of our team.