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Research

IDH-mutant gliomas in children and adolescents - from biology to clinical trials

Gliomas account for nearly 30% of all primary central nervous system (CNS) tumors in children and adolescents and young adults (AYA), contributing to significant morbidity and mortality. The updated molecular classification of gliomas defines molecularly diverse subtypes with a spectrum of tumors associated with age-distinct incidence.

Research

Access to Oral Healthcare in Individuals With Rett Syndrome: A Qualitative Study of Parent Perspectives

Intellectual and developmental disabilities (IDD) are varied in their nature and presentation. Barriers to oral healthcare are reported in studies of general populations with IDD but these may not reflect the barriers experienced by individuals with rare disorders such as Rett syndrome.

Research

“Wait with me until it's over”: A reflexive thematic analysis of adolescents’ coping with dissociation

Dissociation is often distressing, yet how affected adolescents manage dissociation in their daily lives is not well understood. This study aimed to describe the strategies adolescents use to manage dissociative symptoms from the perspective of adolescents themselves, their parents, and their clinicians.

Research

Parental Experiences of Having a Child Diagnosed With Septo-Optic Dysplasia

Septo-optic dysplasia (SOD) is a congenital disorder affecting 1 in 10,000 births, defined by the presence of at least two of a clinical triad, consisting of optic nerve hypoplasia, midline brain defects and pituitary hormone deficiency. Children with SOD may have vision impairment, hormonal deficiencies, developmental disorders, or epilepsy, but the clinical picture is highly variable. The complexity of SOD, its interplay with family factors, and the need for multiple specialty commitments can make the diagnosis period a challenging time for families.

Research

Research priorities for preterm lung health research across the lifespan: a community priority setting partnership

It is essential to embed patient and public perspectives into every stage of the research journey, including setting the future research agenda. The substantial gaps in our understanding of prematurity-associated lung disease presented a timely opportunity to determine the community's research priorities.

Research

Plasma Cortisol Levels in Infants With Respiratory Distress During Different Phases of Neonatal Transport: A Pilot Prospective Observational Before-After Study

The transport of sick newborn infants with respiratory distress leads to unwanted stress at time of physiological instability. There is dearth of studies to evaluate these stress levels. This pilot prospective observational before-after study aimed to evaluate the plasma cortisol levels (as surrogate marker of stress) in infants with respiratory distress during different phases of neonatal transport.

Research

Mitochondrial damage in muscle specific PolG mutant mice activates the integrated stress response and disrupts the mitochondrial folate cycle

During mitochondrial damage, information is relayed between the mitochondria and nucleus to coordinate precise responses to preserve cellular health. One such pathway is the mitochondrial integrated stress response (mtISR), which is known to be activated by mitochondrial DNA (mtDNA) damage. However, the causal molecular signals responsible for activation of the mtISR remain mostly unknown.

Research

Researchers’ self-reported adherence to ethical principles in Aboriginal and Torres Strait Islander health and medical research and views on improving conduct: a mixed methods study

To examine researchers' reports of adherence to ethical principles in their most recent research project, including factors associated with higher self-reported adherence, and perceptions of how research conduct could be improved. 

Research

Considerations for Causal Inference Studies

Rachel Foong BSc (hons), PhD, MBiostat Honorary Research Associate 08 6319 1626 Rachel.Foong@thekids.org.au Senior Research Fellow Dr Foong is an

Research

Cohort profile: The WAACHS Linked Data Study

Despite the volume of accumulating knowledge from prospective Aboriginal cohort studies, longitudinal data describing developmental trajectories in health and well-being is limited.