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Research
Rett syndrome: establishing a novel outcome measure for walking activity in an era of clinical trials for rare disordersThis study investigated the capacity of three accelerometer-type devices to measure walking activity in Rett syndrome
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Community participation for girls and women living with Rett syndromeThis paper aimed to describe the relationships between level of impairment and participation in community activities for girls and women with Rett syndrome.
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Twenty years of surveillance in Rett syndrome: what does this tell us?This study aimed to describe overall survival and adult health in those with Rett syndrome.
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Gastrointestinal dysmotility in rett syndromeThrough evidence review and the consensus of an expert panel, we developed recommendations for the clinical management of gastroesophageal reflux disease,...
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Changes in risk factors for preterm birth in Western Australia 1984-2006Marked increases in maternal age and primiparous births were observed. A four-fold increase in the rates of pre-existing medical complications over time...
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Growth patterns in individuals with CDKL5 deficiency disorderAim: To compare growth in individuals with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder with population norms and to investigate the effect of gastrostomy on growth.
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Neurocognitive and self-reported psychosocial and behavioral functioning in siblings of individuals with neurodevelopmental conditions: a study using remote self-administered testingThis study compared and explored the neurocognitive profiles of siblings of persons with and without neurodevelopmental conditions (NDCs) and associations between objective test performance and self-reported psychosocial functioning.
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Modifiable child and caregiver factors that influence community participation among children with Down syndromeTo investigate modifiable child and caregiver factors influencing community participation among children with Down syndrome.
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Hospitalizations Following Complex Hip Surgery in Children with Intellectual Disability: A Self-Controlled Case Series AnalysisTo evaluate the associations between complex hip surgery and subsequent hospitalizations in children with intellectual disability, including a subset of children with cerebral palsy.
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Measuring the Burden of Epilepsy Hospitalizations in CDKL5 Deficiency DisorderInformation on the hospital service use among individuals with CDKL5 Deficiency Disorder, an ultrarare developmental epileptic encephalopathy, is limited, evidence of which could assist with service planning. Therefore, using baseline and longitudinal data on 379 genetically verified individuals in the International CDKL5 Disorder Database, we aimed to investigate rates of seizure-related and other hospitalizations and associated length of stay in this cohort.