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Research

Psychological Wellbeing Amongst Parents of Trans Children: An in-Depth Qualitative Investigation

Research has shown that parents of trans children face numerous challenges as they navigate their parenting role, however, little is known about the impact of these challenges on parents’ psychological wellbeing.

Research

Non-pharmacological interventions for autistic children: An umbrella review

The breadth of available non-pharmacological interventions for autistic children, with varying evidence for efficacy summarised in multiple systematic reviews, creates challenges for parents, practitioners, and policymakers in navigating the research evidence. In this article, we report the findings of an umbrella review of 58 systematic reviews of non-pharmacological interventions for autistic children (aged 0–12 years).

Research

Prospective longitudinal evaluation of treatment-related toxicity and health-related quality of life during the first year of treatment for pediatric acute lymphoblastic leukemia

Pediatric acute lymphoblastic leukemia (ALL) therapy is accompanied by treatment-related toxicities (TRTs) and impaired quality of life. In Australia and New Zealand, children with ALL are treated with either Children's Oncology Group (COG) or international Berlin-Frankfurt-Munster (iBFM) Study Group-based therapy.

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Stepwise GATA1 and SMC3 mutations alter megakaryocyte differentiation in a Down syndrome leukemia model

Acute megakaryoblastic leukemia of Down syndrome (DS-AMKL) is a model of clonal evolution from a preleukemic transient myeloproliferative disorder requiring both a trisomy 21 (T21) and a GATA1s mutation to a leukemia driven by additional driver mutations.

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3DFAACTS-SNP: using regulatory T cell-specific epigenomics data to uncover candidate mechanisms of type 1 diabetes (T1D) risk

Genome-wide association studies (GWAS) have enabled the discovery of single nucleotide polymorphisms (SNPs) that are significantly associated with many autoimmune diseases including type 1 diabetes (T1D). However, many of the identified variants lie in non-coding regions, limiting the identification of mechanisms that contribute to autoimmune disease progression.

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Modelled estimates of hospitalisations attributable to respiratory syncytial virus and influenza in Australia, 2009–2017

Respiratory syncytial virus (RSV) and influenza are important causes of disease in children and adults. In Australia, information on the burden of RSV in adults is particularly limited.

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Epidemiology of Neonatal Acute Respiratory Distress Syndrome: Prospective, Multicenter, International Cohort Study

Age-specific definitions for acute respiratory distress syndrome (ARDS) are available, including a specific definition for neonates (the "Montreux definition"). The epidemiology of neonatal ARDS is unknown. The objective of this study was to describe the epidemiology, clinical course, treatment, and outcomes of neonatal ARDS.

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Changes to the Gut Microbiome in Young Children Showing Early Behavioral Signs of Autism

The human gut microbiome has increasingly been associated with autism spectrum disorder (ASD), which is a neurological developmental disorder, characterized by impairments to social interaction.

Research

Assessing functioning for individuals with neurodevelopmental conditions: Current clinical practice in Australia

In the disability sector globally, and specifically in Australia, assessments of functioning have become key to diagnostic processes, and accessing therapy and funding. Over half of all individuals accessing support through Australia's National Disability Insurance Scheme have a neurodevelopmental condition diagnosis.

Research

Down syndrome-associated leukaemias: current evidence and challenges

Children with Down syndrome (DS) are at increased risk of developing haematological malignancies, in particular acute megakaryoblastic leukaemia and acute lymphoblastic leukaemia. The microenvironment established by abnormal haematopoiesis driven by trisomy 21 is compounded by additional genetic and epigenetic changes that can drive leukaemogenesis in patients with DS.