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An Aboriginal and Torres Strait Islander adolescent model of primary health carePete Azzopardi PhD, FRACP, MEpi, MBBS, GDipBiostats, BMedSci Head, Adolescent Health and Wellbeing Head, Adolescent Health and Wellbeing Professor
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A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discoveryThe Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema was released in 2022 and approved by ISO as a standard for sharing clinical and genomic information about an individual, including phenotypic descriptions, numerical measurements, genetic information, diagnoses, and treatments. A phenopacket can be used as an input file for software that supports phenotype-driven genomic diagnostics and for algorithms that facilitate patient classification and stratification for identifying new diseases and treatments.
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A Lifeline to Fill the Silence of Homelessness: Person-Centered Analysis of Digital Coping and Links to Mental and Physical HealthIndividuals experiencing homelessness are among the most vulnerable population for mental and physical health disparities. Despite navigating numerous stressors on a day-to-day basis, they are vastly underrepresented within coping research. Using a person-centered approach, this study addresses ways in which technology is leveraged to manage ongoing stressors associated with the experience of homelessness.
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Invasive fungal disease and antifungal prophylaxis in children with acute leukaemia: a multicentre retrospective Australian cohort studyInvasive fungal disease (IFD) is a common and important complication in children with acute myeloid leukaemia (AML). We describe the epidemiology of IFD in a large multicentre cohort of children with AML.
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Septo-optic dysplasia and gastroschisis: trends in birth prevalence and association with maternal ageThis study aims to describe the risk factors and trends in birth prevalence of septo-optic dysplasia (SOD) and gastroschisis between 1980 and 2023. This descriptive, population-based study of SOD and gastroschisis used Western Australian Register of Developmental Anomalies data from 1980 to 2023. Birth prevalence was calculated using Midwives Notification System data for all births after 20 weeks gestation.
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Preliminary validity evidence for a rapid fundamental movement skill assessment tool for primary education settingsAssessment of motor competence is critical for planning and monitoring children's development. However, many assessment tools require time, training, and resources not available to most teachers. We aimed to evaluate the external aspect of construct validity of a rapid product-oriented fundamental movement skill assessment tool designed specifically for primary education settings.
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Parental experiences of using continuous glucose monitoring in their young children with early-stage type 1 diabetes: a qualitative interview studyTo explore parents' experiences of using continuous glucose monitoring in their young children with early-stage type 1 diabetes, being followed in the Australian Environmental Determinants of Islet Autoimmunity (ENDIA) study.
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Maternal Allergic Disease Phenotype and Infant Birth Season Influence the Human Milk MicrobiomeEarly infancy is a critical period for immune development. In addition to being the primary food source during early infancy, human milk also provides multiple bioactive components that shape the infant gut microbiome and immune system and provides a constant source of exposure to maternal microbiota. Given the potential interplay between allergic diseases and the human microbiome, this study aimed to characterise the milk microbiome of allergic mothers.
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Infant Diet Recommendations Reduce IgE-Mediated Egg, Peanut, and Cow's Milk AllergiesMeta-analyses of randomized controlled trials have found that introducing eggs and peanuts earlier during infancy reduced egg and peanut allergy risk. Hence, infant feeding advice has dramatically changed from previous recommendations of avoidance to current recommendations of inclusion of common food allergens in infant diets.
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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.