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Research
A framework for understanding quality of life domains in individuals with the CDKL5 deficiency disorderThis study aimed to identify the quality of life domains important for individuals with CDKL5 deficiency disorder
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Apgar score and risk of autismThis study suggests that low Apgar score is associated with higher risk of autism spectrum disorder, and in particular autistic disorder
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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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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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Young people with intellectual disability transitioning to adulthood: Do behaviour trajectories differ in those with and without down syndromeChanges in emotional and behavioural problems for young people with intellectual disability with and without Down syndrome as they transition into adulthood
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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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Autism risk associated with parental age and with increasing difference in age between the parentsIncreases in ASD was not only limited to advancing paternal or maternal age alone but also to differences parental age including younger or older similarly age
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Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndromeThere were differences in the presentation of clinical features occurring in the CDKL5 disorder and in Rett syndrome.
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Population-based prevalence of intellectual disability and autism spectrum disorders in Western AustraliaThe prevalence of intellectual disability has risen in WA over the last 10 years with most of this increase due to mild or moderate intellectual disability