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Research
Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: A cohort studyWe investigated the impact of spinal fusion on survival and risk of severe lower respiratory tract infection in Rett syndrome.
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Septo-optic dysplasia and gastroschisis: trends in birth prevalence and association with maternal ageThis study aims to describe the risk factors and trends in birth prevalence of septo-optic dysplasia (SOD) and gastroschisis between 1980 and 2023. This descriptive, population-based study of SOD and gastroschisis used Western Australian Register of Developmental Anomalies data from 1980 to 2023. Birth prevalence was calculated using Midwives Notification System data for all births after 20 weeks gestation.
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Using a large international sample to investigate epilepsy in Rett syndromeThe aim of this study was to identify characteristics of epilepsy in Rett syndrome (RTT), and relationships between epilepsy and genotype.
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“I have a good life”: the meaning of well-being from the perspective of young adults with Down syndromeThe purposes of this study were to explore what makes for a "good life" from the perspective of young adults with Down syndrome and to identify the barriers...
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Assessment and management of nutrition and growth in rett syndromeWe developed recommendations for the clinical management of poor growth and weight gain in Rett syndrome through evidence review and the consensus of an...
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Early mortality and primary causes of death in mothers of children with intellectual disability or Autism spectrum disorderMothers of children with intellectual disability or autism spectrum disorder (ASD) have poorer health than other mothers.
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Neuropsychological profiles of adolescents sentenced to detention in Western Australia with and without prenatal alcohol exposureYouth with prenatal alcohol exposure (PAE) are under-recognised in the justice system, warranting improved identification. This study aimed to compare neuropsychological profiles of adolescents, with and without PAE and identify neuropsychological tasks predictive of PAE-group membership. It was hypothesised that participants with PAE would score significantly lower on neuropsychological tests.
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Association between disability status and dental attendance patterns in Australian children: A national surveyThis study investigated the dental attendance patterns of Australian children with and without disabilities using data from Growing up in Australia: The Longitudinal Study of Australian Children.
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The effect of functioning on Quality of Life Inventory-Disability measured quality of life is not mediated or moderated by parental psychological distressThe measurement of quality of life (QOL) in children with intellectual disability often relies upon proxy report via caregivers. The current study investigated whether caregiver psychological distress mediates or moderates the effects of impairment on their ratings of QOL in children with intellectual disability.
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Identifying how the principles of self-determination could be applied to create effective alcohol policy for First Nations Australians: Synthesising the lessons from the development of general public policyHarmful alcohol consumption contributes to poorer health for all people. For Indigenous Peoples of Australia, Canada, and New Zealand alcohol impacts their wellbeing significantly, this is partially explained by both their experiences of colonisation and the resulting impact on structural and social determinants of health. Indigenous Peoples have a recognised right to self-determination, which includes their right to contribute to policy decisions that affect them.