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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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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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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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A fine balance and a shared learning journey: Exploring healthcare engagement through the experiences of youth with Neuromuscular DisordersExplored Youth with Neuromuscular Disorders perceptions of health, health behaviors and healthcare engagement
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Quantitative and qualitative insights into the experiences of children with Rett syndrome and their familiesEarly presentation of Rett syndrome, including regression and challenges for families seeking a diagnosis
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How can clinical ethics guide the management of comorbidities in the child with Rett syndrome?This paper reviews the disorder Rett syndrome and evidence for the management of scoliosis and poor growth within a clinical ethics framework
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Brief Report: Burden of Care in Mothers of Children with Autism Spectrum Disorder or Intellectual DisabilityMothers of children with autism spectrum disorder or intellectual disability have higher rates of treatment episodes for psychiatric disorders
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Family satisfaction following spinal fusion in Rett syndromeWe evaluated family satisfaction following spinal fusion in girls with Rett syndrome
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The relationship between maternal psychiatric disorder, autism spectrum disorder and intellectual disability in the child: a composite pictureResearch conducted by this laboratory has previously published four papers examining the relationship between maternal psychiatric disorders and having a...
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Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndromeThis study investigates relationships between methyl-CpG-binding protein 2 gene (MECP2) mutation type and speech-language abilities in girls with Rett syndrome.