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A precision medicine approach to interpret a GATA4 genetic variant in a paediatric patient with congenital heart disease

Patients with congenital heart disease (CHD) are identified in 1% of live births. Improved surgical intervention means many patients now survive to adulthood, the corollary of which is increased mortality in the over-65-year-old congenital heart disease population. In the clinic, genetic sequencing increasingly identifies novel genetic variants in genes related to CHD.

Child Development Interventions Among Indigenous Peoples in Australia, Canada, New Zealand, and the United States: A Scoping Review

Children's development is dependent on a range of factors influencing their life course outcomes. Protective and challenging social and cultural determinants impact how Indigenous families support their children's developmental foundations. However, there is a lack of international evidence investigating Indigenous child development interventions.

Co-designing a new clinical pathway to support families with children identified as having early-stage type 1 diabetes in Western Australia

Children with early-stage (pre-symptomatic) type 1 diabetes are currently identified primarily via research-based screening programmes in Australia. Once identified, families live with the knowledge that their child has an increased chance of developing symptomatic, lifelong, insulin-requiring type 1 diabetes but have no specific clinical pathway available to them in Western Australia for accessing tailored support or education. This project aimed to co-design a new clinical pathway to address this unmet need.

Move to Improve: Co-Designing a Hospital-Based Physical Activity Program for Children With Chronic Health Conditions

Physical activity can support physical and mental health among children living with chronic health conditions; however, programmes must be tailored to their specific needs to support participation.

Psychometric validation of the quality of life Inventory − Disability (QI-Disability) among patients with Lennox-Gastaut syndrome and Dravet syndrome

To evaluate the psychometric properties of the Quality of Life Inventory -Disability (QI-Disability) for individuals with Dravet syndrome (DS) or Lennox-Gastaut syndrome (LGS), two rare developmental and epileptic encephalopathy conditions.

A differentiated nasal epithelial cell model derived from children with acute wheeze and asthma

The airway epithelium is the primary structural and functional airway barrier and orchestrates innate immunity. Some children may have underlying epithelial vulnerabilities that contribute to the pathogenesis of acute wheeze and asthma.

Parents’ Work–Family Conflict and Children’s Emotional Well-Being: The Mediating Role of Parenting Behaviors

Despite growing evidence that parental work–family conflict (WFC) affects children’s emotional well-being, little is known about the multiple pathways underlying such effects. This study examines the association between parental WFC and children’s emotional well-being and the potential mediating role of parenting behaviors in this process.

Respiratory Syncytial Virus Strain Evolution and Mutations in Western Australia in the Context of Nirsevimab Prophylaxis

Nirsevimab is a long-acting monoclonal antibody used to prevent respiratory syncytial virus (RSV) infection in infants and high-risk children. During the 2024 RSV season in Western Australia, 21 922 doses were administered to infants entering their first season and 1221 doses to at-risk children. In this context, the selection and spread of escape variants are a potential concern. This study aimed to investigate nirsevimab binding site mutations using clinical and wastewater data.

Clostridioides (Clostridium) difficile in children and adolescents in the community in Cambodia

Clostridioides (Clostridium) difficile transmission between community and healthcare settings has been increasingly reported. We aimed to identify the prevalence and molecular epidemiology of C. difficile colonising adolescents and non-hospitalised children in Cambodia.

Impact of climate change on diarrhoea risk in low- and middle-income countries

Diarrhoea remains a leading cause of mortality among children under five years of age, with over 99 % of deaths occurring in low- and middle-income countries. Poor water quality, inadequate sanitation, poverty, undernutrition, and limited healthcare access contribute to this lingering problem, together with emerging environmental stressors driven by climate change.