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Research
Population-based prevalence of intellectual disability and autism spectrum disorders in Western AustraliaThe prevalence of intellectual disability has risen in WA over the last 10 years with most of this increase due to mild or moderate intellectual disability
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An investigation of the determinants of quality of life in adolescents and young adults with Down syndromeQuality of life of young people with Down syndrome was most negatively associated with burden of medical conditions, but also with lack of friendships
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Parent-reported health-related quality of life of children with Down syndrome: A descriptive studyTo describe health-related quality of life of Australian children and adolescents with Down syndrome and compare it with norm-referenced data.
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CDKL5 variants: Improving our understanding of a rare neurologic disorderProviding new insights into the interpretation of genetic variants in a rare neurologi disorder, in the contexts of population sequencing data.
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Predicting Long-Term Survival Without Major Disability for Infants Born PretermApgar score, birth weight, sex, socioeconomic status, and maternal ethnicity, in addition to gestational age, have pronounced impacts on disability-free survival.
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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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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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Caregiver Perspective of Benefits and Side Effects of Anti-Seizure Medications in CDKL5 Deficiency Disorder from an International DatabaseCDKL5 deficiency disorder presents as a challenging condition with early-onset refractory seizures, severe developmental delays, and a range of other neurological symptoms. Our study aimed to explore the benefits and side effects of anti-seizure medications in managing seizures among individuals with CDKL5 deficiency disorder, drawing on data from the International CDKL5 Disorder Database.
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"What about us?"- the drawbacks of current bruxism assessment criteria in evaluating vulnerable groupsJenny Helen Kingsley Downs Leonard Wong BApplSci (physio) MSc PhD MBChB MPH MBBS, MPH, MMedStat Head, Child Disability Principal Research Fellow
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The Feasibility of Personalized Endpoints in Assessing Treatment Outcomes for Rare Diseases: A Pilot Study of Goal Attainment Scaling in SCN2A-AssociatedFor individuals living with rare neurodevelopmental disorders, particularly those who are at the most severe end of the spectrum, standardized outcome measures may lack the sensitivity to capture small but meaningful changes.