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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.

Inoculation Theory and Sport, Exercise, and Physical Activity

Movement is at the core of human existence. For infants and children, exploratory movement offers a scaffold for important learning and development outcomes, and in adolescents and adults, regular activity is key for promoting good physical and mental health.

Identifying Infants <32 Weeks' Gestation at Low Risk of Early-Onset Sepsis: A 10-Year Retrospective Study from Western Australia

Preterm infants are commonly treated with antibiotics on admission to the neonatal unit as part of routine care. We aimed to identify infants <32 weeks' gestation at low risk of early-onset sepsis (EOS) in whom antibiotics could be safely withheld.

Translating multi-omics into healthcare: requisites for scalable and equitable implementation

Multi-omics in combination with advanced computational methodologies synthesizes diverse omics data to provide deeper insights into molecular interactions and offers transformative potential for unravelling phenomenon behind disease complexities, improving diagnostics, disease prevention, and personalized treatments. This integrative strategy enables our understanding of gene-environment relationships, chronic disease progression, and the intricate molecular pathways involved in health. 

Is targeted cytomegalovirus testing of infants feasible in Western Australia? An observational study

Congenital cytomegalovirus (cCMV) is a common infection at birth with the potential to cause significant and permanent morbidity, most commonly hearing loss. Targeted cCMV testing programmes use hearing loss as an indicator of an infant being at high risk of the infection and thereby can 'target' or focus testing on those at greatest risk. Australian and International guidelines recommend that high-risk infants be offered cCMV testing, yet across Australia, a formal testing system does not exist.

Development and application of a scoring and visualization approach for 24-hour movement behaviours: an example based on social-emotional development in early years children

Current methods for assessing the healthfulness of 24-hour movement behaviours (sleep, sedentary time, light physical activity, moderate-to-vigorous physical activity) use binary classifications that fail to capture their continuous and compositional nature. This study introduces a percentile-based scoring and visualization approach to evaluate the healthfulness of movement behaviour time-use compositions, using social-emotional development in early childhood as an example.

“It Makes You Feel Like Not Sending Your Kids to School”: Aboriginal Parents’ Experiences of the Transition to School

The transition to formal schooling is a critical milestone in a child’s development. For Aboriginal children, early experiences are shaped by both cultural strengths and enduring impacts of colonisation. This study explored factors influencing Aboriginal families’ transition-to-school experiences in an urban Western Australian community.

The impact of child self-regulation difficulties on parents: A qualitative study

The capacity for children to self-regulate is an important developmental task of early childhood, with caregivers playing an integral role in self-regulation development. While caregivers' emotions and behaviors are known to impact child self-regulatory capacity, the impact of child self-regulation difficulties on parents is less understood. 

Commitments to Improve Food Environments in Western Australia: A Review of Local Government Public Health Plans

Food environments are significant drivers of obesity and diet-related diseases, making them key targets for interventions that support healthier food choices. The role of Local Government Authorities is pivotal in shaping community food environments. 

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.