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Characteristics of non-Aboriginal and Aboriginal children and families with substantiated child maltreatmentTo investigate specific child and parental factors associated with increased vulnerability to substantiated child maltreatment.
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Impact of scoliosis surgery on activities of daily living in females with Rett syndromeScoliosis is a common orthopaedic complication of Rett syndrome, and surgery is commonly used to reduce asymmetry in cases with severe scoliosis.
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Predictors of seizure onset in Rett syndromeInformation on presence and age at onset of seizures, perinatal and developmental history, and genetic status was abstracted on 275 cases in the Australian...
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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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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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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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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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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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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