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Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanismsCornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features.
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Evaluation Tools Developed for Rett SyndromeRett syndrome (RTT) is a complex neurodevelopmental X-linked disorder associated with severe functional impairments and multiple comorbidities. There is wide variation in the clinical presentation, and because of its unique characteristics, several evaluation tools of clinical severity, behavior, and functional motor abilities have been proposed specifically for it.
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The neglect of a child with intellectual disability as reported in Australian news media: A Foucauldian discourse analysisPeople with intellectual disability experience a high risk of being neglected and family members are often identified as the perpetrators. Analysing the media provides insight into public narratives about social problems. A search of Australian newspapers published between 2016 and 2021 identified 27 articles that predominately reported on a single case of familial neglect of an individual with intellectual disability.
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Australian children living with rare diseases: health service use and barriers to accessing careChildren with rare diseases experience challenges at home and school and frequently require multi-disciplinary healthcare. We aimed to determine health service utilization by Australian children with rare diseases and barriers to accessing healthcare.
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Quality of life beyond diagnosis in intellectual disability – Latent profilingTo compare quality of life (QOL) across diagnoses associated with intellectual disability, construct QOL profiles and evaluate membership by diagnostic group, function and comorbidities.
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NHMRC funding awarded to support child health researchThe Kids Research Institute Australia researchers have been awarded more than $10 million in research funding from the National Health and Medical Research Council (NHMRC).
Research
What I Wish I Had Known: Examining Parent Accounts of Managing the Health of Their Child With Intellectual DisabilityAppropriate support for the health of children with an intellectual disability by parents and healthcare professionals is pivotal, given the high risk of chronic conditions. However, there is limited research that has collected important insights from parents on their learnings for supporting their child's evolving healthcare needs.
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Siblings of Individuals With Neurodevelopmental Conditions: Perspectives on Risk, Resiliency and Future Research DirectionsSiblings of individuals with neurodevelopmental conditions (NDCs) are at increased genetic and environmental risk for poorer psychosocial and neurocognitive outcomes compared to control groups of siblings of individuals without NDCs.
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Functional outcomes in children and adolescents with neurodisability accessing music therapy: A scoping reviewTo determine the evidence for functional outcomes experienced by a population with paediatric neurodisability (such as acquired brain injury, cerebral palsy, spinal cord injury, and other neurological disorders), who access music therapy through neurorehabilitation services across the rehabilitation spectrum.
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Key elements of Goal-Directed Training for children with cerebral palsy: A qualitative content analysisGoal-directed training is an evidence-based occupational therapy intervention for children with cerebral palsy targeting motor performance and goal attainment. There is variability and limited description on goal-directed training delivery within the studies who found it a successful intervention. The aim of this study was to establish the who, what, why and how of goal directed training according to practicing occupational therapists.