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Caring for a child with severe intellectual disability in China: The example of Rett syndromeIntellectual disability affects more than 1.5% of the population of children in developing countries yet we know little about the daily lives and support...
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Functioning and post-school transition outcomes for young people with Down syndromeOur analysis shows that functioning in activities of daily living was related to post-school day occupation. Current health status and behaviour were found...
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Application of Population-Based Linked Data to the Study of Intellectual Disability and AutismData linkage is the bringing together of specific datasets from different sources using demographic information on individuals within a population.
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Evaluating the Extent of Clinical Uncertainty Among Treatment Options for Patients with Early-Onset ScoliosisThe objective of this study was to evaluate areas of clinical uncertainty among pediatric spine surgeons regarding the treatment of early-onset scoliosis.
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The phenotype associated with a large deletion on MECP2Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene.
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Parental Experiences of Having a Child Diagnosed With Septo-Optic DysplasiaSepto-optic dysplasia (SOD) is a congenital disorder affecting 1 in 10,000 births, defined by the presence of at least two of a clinical triad, consisting of optic nerve hypoplasia, midline brain defects and pituitary hormone deficiency. Children with SOD may have vision impairment, hormonal deficiencies, developmental disorders, or epilepsy, but the clinical picture is highly variable. The complexity of SOD, its interplay with family factors, and the need for multiple specialty commitments can make the diagnosis period a challenging time for families.
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Can Respiratory Hospital Admissions in Children with Cerebral Palsy Be Reduced? A Feasibility Randomized Controlled Trial (RESP-ACT)To investigate the feasibility of implementing recommendations of the consensus statement for the Prevention and Management of Respiratory Disease in children with severe cerebral palsy (CP) via RESPiratory hospital Admissions in children with cerebral palsy: a feasibility randomized Controlled Trial (RESP-ACT).
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International Rett syndrome study: InterRettHelen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763
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Multi-site validation of a suite of clinical outcome measures for clinical trial readiness in the CDKL5 Deficiency DisorderHelen Jenny Peter Leonard Downs Jacoby MBChB MPH BApplSci (physio) MSc PhD BA (Hons) MSc Principal Research Fellow Head, Child Disability
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The natural history of the MECP2 Duplication disorder: Australian surveillance and plans for development of an international registerHelen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763