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We argue that population-based studies are critical to overcome the selection bias seen in many clinical samples and to identify true variability within a...
This study assessed the functional skills of three girls with RTT aged 35 years before and during participation in a CE programme.
In girls and women with Rett syndrome, we assessed the accuracy of the StepWatch Activity Monitor™ and investigated relationships between daily step counts,...
We describe change in gross motor function over 3 to 4 years for 70 subjects participating in the Australian Rett Syndrome Database
Modifications to diagnostic criteria and introduction of genetic testing have likely affected the pattern and timing of Rett syndrome diagnosis...
This study aimed to investigate the trajectories over time of health status and health service use in Rett syndrome by mutation...
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.
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.
Improving the lives of children with a disability and their families sits at the core of our team.
A program developed by The Kids Research Institute Australia researcher Dr Jenny Downs has led to dramatic improvements in the functioning of Chinese children with Rett syndrome, and could change the world.