Search
Showing results for "1"
Research
A flexible computational pipeline for research analyses of unsolved clinical exome casesExome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar.
Research
The course and prognostic capability of motor difficulties in infants showing early signs of autismDelays within the motor domain are often overlooked as an early surveillance marker for autism. The present study evaluated motor difficulties and its potential as an early predictive marker for later autism likelihood in a cohort of infants showing early behavioral signs of autism aged 9-14 months. The motor domain was evaluated using the motor subscales of the Mullen Scales of Early Learning at baseline, and at a 6-month follow-up.
Research
Estimated Therapy Costs and Downstream Cost Consequences of iBASIS-Video Interaction to Promote Positive Parenting Intervention vs Usual Care Among Children Displaying Early Behavioral Signs of Autism in AustraliaThe growing global prevalence of autism spectrum disorder is associated with increasing costs for support services. Ascertaining the effects of a successful preemptive intervention for infants showing early behavioral signs of autism on human services budgets is highly policy relevant.
Research
Global, regional, and national disability-adjusted life years (DALYs) for 306 diseases and injuries and healthy life expectancy (HALE) for 188 countriesThese summary measures can also be used to quantify the component of variation in epidemiology that is related to sociodemographic development.
Research
The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical serviceThe Rare and Undiagnosed Diseases Diagnostic Service refers to a genomic diagnostic platform operating within the Genetic Services of Western Australia
Research
Getting creative: Using art-based techniques to identify how arts organizations enhance young people’s well-beingMental health concerns present significant challenges for Australian youth. Arts organizations play a key role in promoting preventative mental health strate-gies through enhancing the social and emotional well-being (SEWB) of youth. However, little is known about how the arts promote SEWB and the processes and contexts through which this occurs.
News & Events
Importance of boredomIn this blog, Clinical Psychologist and Clinical Lead (Psychology) Dr Mei’en Lim offers families — both parents and children — advice on how to embrace boredom.
News & Events
“Correlation doesn’t equal causation”: Autism and caesarean sectionsA new study that combines data from over 20 million births has found that a caesarean section delivery is associated with autism spectrum disorder (autism) and attention-deficit hyperactivity disorder (ADHD).
News & Events
Technology powering researchResearchers at The Kids are harnessing the power of apps and other online tools to ensure the results of their research reach those who need it most – children, young people and families.
Research
Fetal head circumference growth in children with specific language impairmentThe aim was to characterise fetal brain growth in children with specific language impairment (SLI). A nested case-control study was set in Perth, WA.