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Research
Family satisfaction following spinal fusion in Rett syndromeFamilies participating in the population-based and longitudinal Australian Rett Syndrome Database whose daughter had undergone spinal fusion provided data on...
Research
Perspectives on hand function in girls and women with Rett syndromeHand function is particularly affected and we discuss theoretical and practical perspectives for optimising hand function in Rett syndrome.
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Qualitative Analysis of Parental Observations on Quality of Life in Australian Children with Down SyndromeWe investigated parental observations to identify QOL domains in children with Down Syndrome and determined whether domains differed between children and teens.
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What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?The MECP2 mutations occurring in the severe neurological disorder Rett syndrome are predominantly de novo, with rare familial cases. The aims of this study...
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Transition to adulthood for young people with intellectual disability: the experiences of their familiesA number of themes emerged from the qualitative data which included parents' views and concerns about the capacity of their young adult to adapt and change to life in adulthood
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Oral health experiences of individuals with Rett syndrome: A retrospective studySocial advantage may provide some protection for dental health in individuals with Rett syndrome
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Parent-observed thematic data on quality of life in children with autism spectrum disorderParent observations provide an initial framework for understanding quality of life in autism spectrum disorder
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Intraoperative neurophysiology monitoring in scoliosis surgery in childrenOur study adds to the literature supporting the role of intraoperative neurophysiology monitoring in scoliosis surgery in children
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Pregnancy and birth outcomes of mothers with intellectual disability and their infants: Advocacy needed to improve well-beingFor mothers with intellectual disability, modifiable risk factors for adverse outcomes need addressing
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Impact of Gastrostomy Placement on Nutritional Status, Physical Health, and Parental Well-Being of Females with Rett SyndromeGastrostomy placement was associated with improvement in BMI in females with Rett syndrome, but its long-term impact on individuals and their families is unclear