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People with Cerebral Palsy and Their Family's Preferences about Genomics ResearchThe goal of this study was to understand individuals with cerebral palsy (CP) and their family's attitudes and preferences to genomic research, including international data sharing and biobanking.
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Microcephaly in Australian infants: A retrospective auditThe aim of this study was to describe clinical characteristics, outcomes and causes of microcephaly in children whose condition was identified within the first year of life.
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Reflections on How Tinnitus Impacts the Lives of Children and AdolescentsThe aim of this study was to generate a conceptual framework describing which aspects of children and adolescents' lives are affected by chronic tinnitus.
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Effect of Preemptive Intervention on Developmental Outcomes Among Infants Showing Early Signs of Autism: A Randomized Clinical Trial of Outcomes to DiagnosisIntervention for individuals with autism spectrum disorder (ASD) typically commences after diagnosis. No trial of an intervention administered to infants before diagnosis has shown an effect on diagnostic outcomes to date.
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Study protocol for Healthy Conversations @ Playgroup: a multi-site cluster randomized controlled trial of an intervention to promote healthy lifestyle behaviours in young children attending community playgroupsEarly childhood is a critical window for preventing obesity and chronic disease. Yet, 1 in 4 Australian children aged 5 years and under are affected by overweight or obesity; and significant proportions of children under 5 years fail to meet guidelines for diet quality, physical activity (PA), screen time, and sleep.
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A common genetic variant of a mitochondrial RNA processing enzyme predisposes to insulin resistanceMitochondrial energy metabolism plays an important role in the pathophysiology of insulin resistance. Recently, a missense N437S variant was identified in the MRPP3 gene, which encodes a mitochondrial RNA processing enzyme within the RNase P complex, with predicted impact on metabolism. We used CRISPR-Cas9 genome editing to introduce this variant into the mouse Mrpp3 gene and show that the variant causes insulin resistance on a high-fat diet.
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Not in employment, education or training (NEET); more than a youth policy issueAustralians who are Not in Employment, Education or Training (NEET) and receive income support span a wide spectrum of working ages. Australian research has concentrated on NEETs aged 15-29 years, in line with international standards. This paper investigates extending the NEET concept to include all working age persons 15-64 years and the value added to welfare policy through analysis of a new linked dataset.
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Higher ultraviolet radiation during early life is associated with lower risk of childhood type 1 diabetes among boysPopulation-level ecological studies show type 1 diabetes incidence is inversely correlated with ambient ultraviolet radiation (UVR) levels. We conducted a nested case–control study using administrative datasets to test this association at the individual level.
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Genetic counseling as preventive intervention: toward individual specification of transgenerational autism riskAlthough autism spectrum disorders (ASD) are among the most heritable of all neuropsychiatric syndromes, most affected children are born to unaffected parents. Recently, we reported an average increase of 3-5% over general population risk of ASD among offspring of adults who have first-degree relatives with ASD in a large epidemiologic family sample.
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Conducting decolonizing research and practice with Australian First Nations to close the health gapThe purpose of this paper is to highlight a perspective for decolonizing research with Australian First Nations and provide a framework for successful and sustained knowledge translation by drawing on the recent work conducted by a research group, in five remote communities in North-Western Australia.