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Research
Medical Comorbidities in MECP2 Duplication Syndrome: Results from the International MECP2 Duplication DatabaseSince the discovery of MECP2 duplication syndrome (MDS) in 1999, efforts to characterise this disorder have been limited by a lack of large datasets, with small case series often favouring the reporting of certain conditions over others. This study is the largest to date, featuring 134 males and 20 females, ascertained from the international MECP2 Duplication Database (MDBase).
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Trends and burden of diabetes in pregnancy among Aboriginal and non-Aboriginal mothers in Western Australia, 1998-2015Diabetes in pregnancy (DIP), which includes pre-gestational and gestational diabetes, is more prevalent among Aboriginal women. DIP and its adverse neonatal outcomes are associated with diabetes and cardiovascular disease in the offspring.
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Modifiable child and caregiver factors that influence community participation among children with Down syndromeTo investigate modifiable child and caregiver factors influencing community participation among children with Down syndrome.
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Child protection involvement of children of mothers with intellectual disabilityChildren born to parents with intellectual disability (ID) have been shown as disproportionally represented in child protection services however with limited population-based research.
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Oral parafunction and bruxism in Rett syndrome and associated factors: An observational studyTo explore patterns of parafunction, and bruxism, and its relationships with genotype and snoring in individuals with Rett syndrome.
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Longitudinal Evaluation of the Stability of Hand Function in Rett SyndromeWe investigated the longitudinal stability of hand function in Rett syndrome and to analyze further the relationships between stability of hand function and genotype, age, and walking ability. Study design: Longitudinal video data of functional abilities of individuals with genetically confirmed Rett syndrome were collected by families of individuals registered with the Australian Rett Syndrome Database.
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Oral health care and service utilisation in individuals with Rett syndrome: an international cross-sectional studyThere is a dearth of literature available on the comparative oral health status of those with Rett syndrome (RTT) despite diurnal bruxism being a supportive diagnostic criterion for the disorder. This study was designed to investigate the dental experiences of individuals with RTT in terms of perceived at-home and professional dental care.
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Unraveling the Optimum Latent Structure of Attention-Deficit/Hyperactivity Disorder: Evidence Supporting ICD and HiTOP FrameworksAttention Deficit/hyperactivity disorder (ADHD) is conceptualized differently in the Diagnostic and Statistical Manual (DSM-5), the International Classification of Diseases-10 (ICD-10), and the Hierarchical Taxonomy of Psychopathology (HiTOP) frameworks. This study applied independent cluster confirmatory factor analysis (ICM-CFA), exploratory structure equation model with target rotation (ESEM), and the S-1 bi-factor CFA approaches to evaluate seven ADHD models yielded by different combinations of these taxonomic frameworks.
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Factors associated with dental hospitalisations in children with intellectual disability or autism spectrum disorder: a Western Australian population-based retrospective cohort studyThis study investigated dental hospitalisations in Western Australian (WA) children with intellectual disability (ID) and/or autism spectrum disorder (ASD) aged up to 18 years.
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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.