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Research
Psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) measureInitial evaluation suggests that QI-Disability is a reliable and valid measure of quality of life across the spectrum of intellectual disability
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Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual DisabilityThis cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders associated with intellectual disability.
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Severity Assessment in CDKL5 Deficiency DisorderA severity assessment was rapidly developed with input from multiple stakeholders. Refinement through ongoing validation is required for future clinical trials.
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Associations Between Hyperphagia, Symptoms of Sleep Breathing Disorder, Behaviour Difficulties and Caregiver Well-Being in Prader-Willi Syndrome: A Preliminary StudyPrader-Willi syndrome (PWS) is a rare genetic disorder characterised by neurodevelopmental delays, hyperphagia, difficulties with social communication and challenging behaviours. Individuals require intensive supervision from caregivers which may negatively affect caregiver quality of life. This study used data collected in the Australasian PWS Registry to evaluate associations between child behaviours and caregiver mental well-being.
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Stillbirth risk prediction using machine learning for a large cohort of births from Western Australia, 1980–2015Almost half of stillbirths could be potentially identified antenatally based on a combination of factors
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Energy drink intake is associated with insomnia and decreased daytime functioning in young adult femalesTo investigate the association between energy drink (ED) use and sleep-related disturbances in a population-based sample of young adults from the Raine Study.
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The misnomer of ‘high functioning autism’: Intelligence is an imprecise predictor of functional abilities at diagnosisWe argue that 'high functioning autism' is an inaccurate clinical descriptor when based solely on intelligence quotient demarcations
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How Families Manage the Complex Medical Needs of Their Children with MECP2 Duplication SyndromeMECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 (MECP2) gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and gastrointestinal problems. The aim of this qualitative study was to explore how the parents of children with MDS manage their child's seizures, recurrent respiratory infections, and gastrointestinal symptoms, and the impact on them as parents.
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Hospitalizations from Birth to 28 Years in a Population Cohort of Individuals Born with Five Rare Craniofacial Anomalies in Western AustraliaTo describe trends, age-specific patterns, and factors influencing hospitalizations for 5 rare craniofacial anomalies.
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Individual-Level Risk and Resilience Factors Associated with Mental Health in Siblings of Individuals with Neurodevelopmental Conditions: A Network AnalysisSiblings of individuals with neurodevelopmental conditions (NDCs) are exposed to unique family environments and experience a range of psychosocial risk and resilience factors.