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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.

Clinical and cognitive profile of nigral iron content in children with ADHD

ADHD has been associated with impaired central nervous dopaminergic pathways. Brain iron is an essential cofactor for the synthesis of dopamine and the substantia nigra (SN) is a significant pool of dopaminergic neurons playing a central role in the activity of the nigrostriatal pathway. The present study investigated SN iron content in children with ADHD, its relationship with ADHD symptom severity and cognitive performance.

Transforming families: evaluation of a digital resource to enhance parental support for trans children

Parental support is a critical protective factor for trans and gender diverse children, yet many parents lack access to trustworthy, evidence-based information. The Transforming Families project aimed to address this gap by co-designing a digital resource to enhance parental understanding, support, and acceptance.

Seasonal variation in BMI outcomes at 6 months: secondary analyses of a multidisciplinary healthy lifestyle programme for children and adolescents with obesity

While international evidence suggests seasonal variations may influence outcomes of interventions for pediatric obesity, data for Aotearoa New Zealand are limited. We examined seasonal variations in changes in body mass index standard deviation score (BMI SDS) in young people with obesity enrolled in an intervention programme. 

Addressing the challenges of intellectual disability identification for health policy and research in Australia

This article discusses the important issue of the need for a stable definition of intellectual disability in order to allow comparisons by place and over time such as in the monitoring of this population's health needs and utilization. The aim of the new Australian National Centre for Intellectual Disability Health, established in 2023, is to ensure that all Australian children and adults with intellectual disability receive high-quality healthcare that meets their needs.

Skeletal muscle health in childhood cancer survivors: a systematic review and meta-analysis

Childhood cancer survivors (CCS) are at risk of long-term skeletal muscle deficits following intensive therapies during critical periods of growth. This review aimed to synthesize approaches for assessing muscle quantity, quality, and function in CCS and to quantify deficits relative to healthy peers. 

Wideband Absorbance Among Aboriginal and/or Torres Strait Islander and Non-Aboriginal Children With Suspected Otitis Media Living in an Australian Urban Area

Otitis media (OM) is a significant health concern, particularly among Aboriginal and/or Torres Strait Islander children who experience one of the highest rates of OM globally. This study aimed to evaluate the use and differences of wideband absorbance at ambient pressure (WBA) among urban Aboriginal and/or Torres Strait Islander and non-Aboriginal children with suspected OM based on standard tympanometry.

First Nations families’ maternity care experiences in the Australian Capital Territory: Kapati Time Yarning, intergenerational trauma and the case for Birthing with Country

First Nations women often experience harmful, inequitable maternity care, shaped by intergenerational trauma and culturally unsafe care. Historical forced removal of First Nations children has created enduring trauma that influences pregnancy and birthing experiences. In the Australian Capital Territory, maternity care is provided through Western biomedical systems, where increasing child protection interventions and fear of surveillance affect women's engagement with care.

Working together for perioperative excellence in pediatric perioperative research

Pediatric perioperative care can be described as a journey, starting when surgery is first contemplated, all the way through to a patient’s full recovery. For the child and their family, this journey spans from the time at home pre-operatively through a hospital stay and finishes with at-home recovery.

Meaningful and minimally distressing: Trans adolescents’ perspectives on sensitive research interviews

Qualitative research on sensitive topics (e.g. abuse, mental health difficulties, discrimination) is needed to understand lived experiences of complex issues. However, this type of research raises concerns about potential adverse effects on participants, especially with younger participants and those from marginalized populations. In this study, we conducted a reflexive thematic analysis of 20 trans adolescents’ (14–18 years of age) experiences of participating in research about their stigma experiences.