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Can RESPiratory hospital Admissions in children with cerebral palsy be reduced? A feasibility randomised Controlled Trial pilot study protocol (RESP-ACT)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.
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Research enriching the lives of girls with Rett syndromeA 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.
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Effect of sitting posture on development of scoliosis in duchenne muscular dystrophy casesThis study assessed the contribution of physical factors including lumbar posture to scoliosis in non-ambulatory youth with DMD in Nepal.
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The diagnosis of autism in a female: could it be Rett syndrome?The aims of this study were to compare the early and subsequent clinical courses of female subjects with Rett syndrome categorised by whether...
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Gross Motor Profile in Rett Syndrome as Determined by Video AnalysisThis study used video supplemented by parent report data to describe the gross motor profile in females with Rett syndrome (n=99) and to investigate...
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Rare childhood diseases: how should we respond?Paradoxically, rare diseases are common, collectively affecting 6-10% of the population and have a huge impact on patients and families, health services,...
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Seizures in Rett syndrome: an overview from a one-year calendar studyInformation on daily seizure occurrence and health service utilization and monthly anti-epileptic drug use was provided on 162 Rett syndrome cases for a...
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Development of a video-based evaluation tool in Rett syndromeThis paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT).
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NTNG1 mutations are a rare cause of Rett syndromeA translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).