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Research
An exploration of the use of eye gaze and gestures in females with rett syndromeEye gaze is used more frequently than gestures for communication, and this is related to age, MECP2 mutation type, and gross motor abilities
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Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delaysParents of children living with rare chronic and complex diseases have called for better education and resourcing of health professionals
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Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of lifeInvestigate impacts on maternal health and family quality of life in families with a child with the CDKL5 disorder
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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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Improved Survival in Down Syndrome over the Last 60 Years and the Impact of Perinatal Factors in Recent DecadesImproved survival for children born with Down syndrome over the last 60 years has occurred incrementally, but disparities still exist
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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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Admissions in Children with Down Syndrome: Experience of a Population-Based Cohort Followed from BirthThis study describes patterns of hospitalisations for children and young people with Down syndrome in Western Australia.
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The experiences of mothers of young adults with an intellectual disability transitioning from secondary school to adult lifeThe transition from school to adulthood for young adults with an intellectual disability involves movement from a generally secure and supported school...
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Determinants and Outcomes of Preterm Birth & Pathways into Developmental DisordersBrad Carrington Fiona Farrant Shepherd Stanley BM CCJ FJ BSc (Hons), PhD PhD FAA FASSA MSc MD FFPHM FAFPHM FRACP FRANZCOG HonDSc HonDUniv HonFRACGP
Research
Down syndrome studies; the transition from secondary school to adulthood: Experiences and life outcomes for youth with an intellectual disability and their familiesHelen Jenny Keely Leonard Downs Bebbington HM JA KB MBChB MPH BApplSci (physio) MSc PhD MClinPsych/PhD Principal Research Fellow Program Head,