Reports and Findings
Research
KMT2A-rearranged acute lymphoblastic leukaemiaKMT2A-rearranged acute lymphoblastic leukaemia (ALL) represents a high risk subtype of childhood ALL. Historical treatment strategies have comprised of intensification with conventional chemotherapy. However, outcomes have remained consistently poor compared to the advances that have been seen for other ALL subtypes, particularly for infants diagnosed before their first birthday
Research
Food Allergy Genetics and Epigenetics: A Review of Genome-Wide Association StudiesIn this review, we provide an overview of food allergy genetics and epigenetics aimed at clinicians and researchers. This includes a brief review of the current understanding of genetic and epigenetic mechanisms, inheritance of food allergy, as well as a discussion of advantages and limitations of the different types of studies in genetic research.
Research
Which emerging autism features at 12 months of age are associated with later parent-child interaction?Parent-child interactions (PCI) in infants with an elevated likelihood (EL) of autism start to diverge from other infants toward the end of the first year. This divergence is often attributed to emerging features of autism impacting infant social interactions in ways that become increasingly amplified. The aim was to identify which, if any, 12-month autism features were associated with later PCI qualities.
Research
Barriers and facilitators to mental health care access and engagement for LGBTQA+ people with psychosis: A scoping reviewLGBTQA+ individuals are at increased risk of experiencing psychosis and face barriers in accessing appropriate and timely mental health support. This scoping review maps the existing literature to identify barriers and facilitators to access and engagement to care for LGBTQA+ people across the psychosis spectrum.
Research
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.
Research
Results of an Australian trial of an automated insulin delivery (AID) system and other studies support likely benefit of AID use for many Australian adults with type 1 diabetesLess than 20% of Australians with type 1 diabetes (T1D) meet recommended glucose targets. Technology use is associated with better glycaemia, with the most advanced being automated insulin delivery (AID) systems, which are now recommended as gold-standard T1D care. Our Australian AID trial shows a wide spectrum of adults with T1D can achieve recommended targets. Other studies, including lived experience data, are supportive. Insulin pumps are not subsidised for most Australian adults with T1D. We advocate change.
Research
“I just don’t know enough”: Australian perspectives on community involvement in health and medical researchThere is increasing global support from governments and other funding bodies for community involvement in research, alongside a scientific and moral imperative for responsible and ethical research practice. Ninety per cent of Australian patient-led organisations in rare diseases have clearly articulated research priorities, indicating a desire among people affected by disease to be involved in research that impacts their communities.
Research
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed HackathonTimo Lassmann BSc (Hons) MSc PhD Feilman Fellow; Head, Precision Health Research and Head, Computational Biology timo.lassmann@thekids.org.au Feilman Fellow; Head, Precision Health Research and Head, Computational Biology Timo Lassmann, B.Sc.
Research
Examining Changes in Implementation of Priority Healthy Eating and Physical Activity Practices, and Related Barriers, Over Time in Australian Early Childhood Education and Care ServicesPromoting healthy eating and physical activity in early childhood education and care is recommended within guidelines and supported by health promotion programs; however, implementation is suboptimal. Evidence suggests implementation within the sector varies over time; however, this has not been empirically examined in relation to implementation barriers.
Research
Predictors of poor treatment outcomes among drug-resistant tuberculosis patients in Hunan province, ChinaDrug-resistant tuberculosis (DR-TB) is a significant public health concern, often resulting in poor treatment outcomes. This study aims to identify predictors of poor treatment outcomes among patients with DR-TB in Hunan Province, China.