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An investigation of the determinants of quality of life in adolescents and young adults with Down syndromeQuality of life of young people with Down syndrome was most negatively associated with burden of medical conditions, but also with lack of friendships
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CDKL5 variants: Improving our understanding of a rare neurologic disorderProviding new insights into the interpretation of genetic variants in a rare neurologi disorder, in the contexts of population sequencing data.
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Parent-reported health-related quality of life of children with Down syndrome: A descriptive studyTo describe health-related quality of life of Australian children and adolescents with Down syndrome and compare it with norm-referenced data.
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Neonatal complications in public and private patients: A retrospective cohort studyDespite the rates of low Apgar scores being higher in public patients, the rates of special care admission were lower.
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Resourceful and creative methods are necessary to research rare disordersOur investigation used the infrastructure of InterRett, established in 2002 with dual aims of encour- aging international collaboration and ascertaining the...
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The International Collaboration for Autism Registry Epidemiology (iCARE): Multinational Registry-Based Investigations of Autism Risk Factors and TrendsiCARE provides a unique, unprecedented resource in autism research that will significantly enhance the ability to detect environmental and genetic...
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Early mortality and primary causes of death in mothers of children with intellectual disability or Autism spectrum disorderMothers of children with intellectual disability or autism spectrum disorder (ASD) have poorer health than other mothers.
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Health care utilization and costs for children and adults with duchenne muscular dystrophyAnnual economic cost of Duchenne Muscular Dystrophy was found to be high, reflecting a significant socioeconomic burden, especially in boys who reach adulthood
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Using a large international sample to investigate epilepsy in Rett syndromeThe aim of this study was to identify characteristics of epilepsy in Rett syndrome (RTT), and relationships between epilepsy and genotype.
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Assessment and management of nutrition and growth in rett syndromeWe developed recommendations for the clinical management of poor growth and weight gain in Rett syndrome through evidence review and the consensus of an...