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Mental wellbeing in non-ambulant youth with neuromuscular disorders: What makes the difference?Mental wellbeing was independently associated with academic achievement and perceived family support but not with physical health variables
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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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Longitudinal Evaluation of the Stability of Hand Function in Rett SyndromeWe investigated the longitudinal stability of hand function in Rett syndrome and to analyze further the relationships between stability of hand function and genotype, age, and walking ability. Study design: Longitudinal video data of functional abilities of individuals with genetically confirmed Rett syndrome were collected by families of individuals registered with the Australian Rett Syndrome Database.
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CDKL5 deficiency disorder: clinical features, diagnosis, and managementCDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy.
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A brief history of MECP2 duplication syndrome: 20-years of clinical understandingMECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene-a gene in which loss-of-function mutations lead to Rett syndrome (RTT). MDS has an estimated live birth prevalence in males of 1/150,000.
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Twenty-five-year survival for aboriginal and caucasian children with congenital heart defects in Western Australia, 1980 to 2010Long-term survival was lower for Aboriginal children with congenital heart defects
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The Risk of Neurodevelopmental Disabilities in Children of Immigrant and Refugee Parents: Current Knowledge and Directions for Future ResearchWe investigated the literature from 2002 to 2016 describing the risk of ASD, intellectual disability and ADHD in children of refugee and immigrant backgrounds.
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Measurement of Sedentary Behaviors or "downtime" in Rett SyndromeThis study aimed to validate measures of sedentary time in individuals with Rett syndrome.
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Risk of Mortality into Adulthood According to Gestational Age at BirthTo quantify the independent risks of neonatal, postneonatal, 1 to 5 and 6 to 30 year mortality by gestational age and investigate changes in survival over time.
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Maternal mental health and risk of child protection involvement: Mental health diagnoses associated with increased riskThis WA data linkage study aims to assess whether maternal mental health problems are associated with worse child development outcomes, children’s safety and...