Reports and Findings (Published Research)

Growth patterns in individuals with CDKL5 deficiency disorder

Aim: To compare growth in individuals with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder with population norms and to investigate the effect of gastrostomy on growth.

Neurocognitive and self-reported psychosocial and behavioral functioning in siblings of individuals with neurodevelopmental conditions: a study using remote self-administered testing

This study compared and explored the neurocognitive profiles of siblings of persons with and without neurodevelopmental conditions (NDCs) and associations between objective test performance and self-reported psychosocial functioning.

“It's a big trauma for the family”: A qualitative insight into the psychological trauma of paediatric burns from the perspective of mothers

Despite the medical and surgical improvements of paediatric burn injuries, burn injuries can be a painful and traumatic experience for the child and their family. It is therefore important to explore the experiences of caregivers who support their child throughout the burn journey. Thus, the purpose of this study was to explore the traumatic nature of paediatric burns on the family from a caregiver's perspective.

The effect and control of malaria in pregnancy and lactating women in the Asia-Pacific region

Half of all pregnancies at risk of malaria worldwide occur in the Asia-Pacific region, where Plasmodium falciparum and Plasmodium vivax co-exist. Despite substantial reductions in transmission, malaria remains an important cause of adverse health outcomes for mothers and offspring, including pre-eclampsia. Malaria transmission is heterogeneous, and infections are commonly subpatent and asymptomatic.

Reproducible Bioinformatics Analysis Workflows for Detecting IGH Gene Fusions in B-Cell Acute Lymphoblastic Leukaemia Patients

B-cell acute lymphoblastic leukaemia (B-ALL) is characterised by diverse genomic alterations, the most frequent being gene fusions detected via transcriptomic analysis (mRNA-seq). Due to its hypervariable nature, gene fusions involving the Immunoglobulin Heavy Chain (IGH) locus can be difficult to detect with standard gene fusion calling algorithms and significant computational resources and analysis times are required. We aimed to optimize a gene fusion calling workflow to achieve best-case sensitivity for IGH gene fusion detection.

Equity, diversity, and inclusion at the Global Alliance for Genomics and Health

A lack of diversity in genomics for health continues to hinder equitable leadership and access to precision medicine approaches for underrepresented populations. To avoid perpetuating biases within the genomics workforce and genomic data collection practices, equity, diversity, and inclusion (EDI) must be addressed.

The intensity of a resistance exercise session can be quantified by the work rate of exercise

Athletes regularly perform resistance training, yet it is unknown how best to monitor its intensity. This study compared different resistance exercise intensity metrics to determine their sensitivity to manipulating work rate (via altering inter-set rest and load).

First Nations populations' perceptions, knowledge, attitudes, beliefs, and myths about prevention and bereavement in stillbirth: a mixed methods systematic review protocol

The objective of this review is to investigate First Nations populations' perceptions, knowledge, attitudes, beliefs, and myths about stillbirth.

The Health Outcomes and Health Service Needs of the Martu and Nyiyaparli People of Northwest Western Australia: A Grey Literature Review

Health outcomes for Australian Aboriginal and Torres Strait peoples are very poor. This is considerably worse in remote regions. The East Pilbara, where the Aboriginal and Torres Strait Islander communities of the Martu and Nyiyaparli people reside, is one such remote region.

Health behaviours associated with healthy body composition among Aboriginal adolescents in Australia in the ‘Next Generation: Youth Well-being study’

This study described the distribution of healthy body composition among Aboriginal adolescents in Australia aged 10-24 years and examined associations with health behaviours and self-rated health.