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Research
Development of an International Database for a Rare Genetic Disorder: The MECP2 Duplication Database (MDBase)The natural history of MECP2 duplication syndrome (MDS), a rare X-linked neurodevelopmental disorder with an estimated birth prevalence of 1/150,000 live births, is poorly understood due to a lack of clinical data collected for research. Such information is critical to the understanding of disease progression, therapeutic endpoints and outcome measures for clinical trials, as well as the development of therapies and orphan products.
Research
Improving the Journey Before, During and After Diagnosis of a Neurodevelopmental Condition: Suggestions from a Sample of Australian Consumers and ProfessionalsThe current study used a transdiagnostic approach to explore experiences of consumers and professionals on how the process of assessing and diagnosing neurodevelopmental conditions can be improved.
Find out about the research outputs for the Development Pathways Project, and see the published research outcomes.
Research
Mums Minds MatterAmy Jenny Susan Desiree Keerthi Finlay-Jones Downs Prescott Silva Kottampally BPsych(Hons), MPsych(Clinical), MHealthEcon, PhD (Clin Psych) BApplSci
Research
Global, regional, and national incidence, prevalence, and years lived with disability for 301 acute and chronic diseases and injuries in 188 countries, 1990–2013: a systematic analysis for the Global Burden of Disease Study 2013Estimates were calculated for disease and injury incidence, prevalence, and YLDs using GBD 2010 methods with some important refinements.
Research
Crowding and other strong predictors of upper respiratory tract carriage of otitis media-relatedWe investigated predictors of nasopharyngeal carriage in Australian Aboriginal and non-Aboriginal children.
Research
Low vitamin D levels are associated with symptoms of depression in young adult malesResults from studies examining associations between serum 25-hydroxyvitamin D (25(OH)D) concentrations and depressive symptoms are equivocal.
News & Events
Study to use eye masks and earplugs to teach preterm babies the rhythm of lifeResearchers will fit nearly 500 preterm babies with tiny eye masks and earplugs for the study.
ORIGINS is Australia's largest longitudinal cohort study of its kind. Following 10,000 WA children from their time in the womb into early childhood, ORIGINS researchers are working to better understand when and why non-communicable diseases develop, and provide solutions for early intervention to ensure every child and family flourishes throughout their lifetime.
Research
The natural history of the MECP2 Duplication disorder: Australian surveillance and plans for development of an international registerHelen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763