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Autism risk associated with parental age and with increasing difference in age between the parentsIncreases in ASD was not only limited to advancing paternal or maternal age alone but also to differences parental age including younger or older similarly age
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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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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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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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Young people with intellectual disability transitioning to adulthood: Do behaviour trajectories differ in those with and without down syndromeChanges in emotional and behavioural problems for young people with intellectual disability with and without Down syndrome as they transition into adulthood
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Health care utilization and costs for children and adults with duchenne muscular dystrophyAnnual economic cost of Duchenne Muscular Dystrophy was found to be high, reflecting a significant socioeconomic burden, especially in boys who reach adulthood
News & Events
Funding to support research into the impact of standing wheelchairsThe Kids researchers are investigating the physical and psychological impacts of powered standing wheelchairs for boys suffering from Duchenne
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Shoulder dystocia in babies born to Aboriginal mothers with diabetes: a population-based cohort study, 1998–2015Australian Aboriginal and Torres Strait Islander women with diabetes in pregnancy (DIP) are more likely to have glycaemic levels above the target range, and their babies are thus at higher risk of excessive fetal growth. Shoulder dystocia, defined by failure of spontaneous birth of fetal shoulder after birth of the head requiring obstetric maneuvers, is an obstetric emergency that is strongly associated with DIP and fetal size.
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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.
Research
Implementing Telehealth support to increase physical activity in girls and women with Rett syndromeHelen Jenny Leonard Downs HM JA MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956