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Research
Early development and regression in Rett syndromeOur findings provide additional insight into the early clinical profile of Rett syndrome.
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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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It's not what you were expecting, but it's still a beautiful journey: The experience of mothers of children with Down syndromeThe purpose of this study was to describe qualitatively the experience of parenting for mothers of a child with Down syndrome and to explore spirituality.
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Total population investigation of dental hospitalizations in Indigenous children under five years in Western Australia using linked dataThe aim of this study was to compare dental hospital admissions in a total state birth population of Indigenous and non-Indigenous children aged under five...
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Description of Total Population Hospital Admissions for Treacher Collins Syndrome in AustraliaTo describe patterns and demographic characteristics of total-population hospital admissions with a diagnosis of Treacher Collins syndrome (TCS) in Australia.
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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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To Feel Belonged: The Voices of Children and Youth with Disabilities on the Meaning of WellbeingThe aim of this paper was to describe the meaning of wellbeing for children and youth with disabilities from their perspective.
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Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation familiesEpilepsy and mental retardation limited to females (EFMR) is an intriguing X-linked disorder affecting heterozygous females and sparing hemizygous males.
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Gross Motor Profile in Rett Syndrome as Determined by Video AnalysisThis study used video supplemented by parent report data to describe the gross motor profile in females with Rett syndrome (n=99) and to investigate...
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Development of a video-based evaluation tool in Rett syndromeThis paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT).