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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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Early development and regression in Rett syndromeOur findings provide additional insight into the early clinical profile of Rett syndrome.
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Orthopaedic issues in Rett SyndromeThis chapter reviews the prevalence, characteristics, and clinical management of orthopedic problems in RTT.
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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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Access to Oral Healthcare in Individuals With Rett Syndrome: A Qualitative Study of Parent PerspectivesIntellectual and developmental disabilities (IDD) are varied in their nature and presentation. Barriers to oral healthcare are reported in studies of general populations with IDD but these may not reflect the barriers experienced by individuals with rare disorders such as Rett syndrome.
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Down syndrome or Rett syndrome in the family: Parental reflections on sibling experienceSiblings of children with intellectual disability have unique family experiences, varying by type of disability.
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Can telehealth increase physical activity in individuals with Rett syndrome? A multicentre randomized controlled trialTo evaluate the effects of a physical activity programme on sedentary behaviour and physical activity in ambulant individuals with Rett syndrome.
Our research covers a broad range of areas from the influence of mutation type on health outcomes to factors impacting on the lives of familes.