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Research

Parental support is strongly correlated with protective factors for trans youth yet most experience parental rejection or ambivalence regarding their gender. Many parents report a desire to support their child but indicate lack of understanding and support as key barriers. We aimed to develop a nuanced understanding of the challenges and facilitators experienced by Australian parents in developing understanding, support and acceptance of their child’s gender and their needs to do so.

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The PLAYCE Study instruments provide reliable measures of early childhood education and care physical activity environments

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Parental support is strongly correlated with protective factors for trans youth, however, most experience unsupportive parental attitudes. We aimed to better understand how youth perceive parental reactions to their gender identity disclosure and what they consider to be barriers to, and facilitators of, support.

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The U-PART intervention was found to be feasible and effective in the short term in girls and women with Rett Syndrome

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Children with rare diseases experience challenges at home and school and frequently require multi-disciplinary healthcare. We aimed to determine health service utilization by Australian children with rare diseases and barriers to accessing healthcare.

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We found a numerically higher rate of preterm births among women who received 23vPPV in pregnancy compared to unvaccinated pregnant women

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To describe the implementation and outcomes of a combined individual placement and support (IPS) and vocational peer work program for young people with mental ill-health.

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A review of cases informed a change from a "3 + 0" infant schedule to a "2 + 1" schedule

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People with intellectual disability experience a high risk of being neglected and family members are often identified as the perpetrators. Analysing the media provides insight into public narratives about social problems. A search of Australian newspapers published between 2016 and 2021 identified 27 articles that predominately reported on a single case of familial neglect of an individual with intellectual disability.

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The review provides the basis for further research into the effects of acute and chronic UV radiation exposure on skin cells in the context of vaccination

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Children recovering from severe malarial anaemia (SMA) remain at high risk of readmission and death after discharge from hospital. However, a recent trial found that post-discharge malaria chemoprevention (PDMC) with dihydroartemisinin-piperaquine reduces this risk. We developed a mathematical model describing the daily incidence of uncomplicated and severe malaria requiring readmission among 0-5-year old children after hospitalised SMA.

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This multinational study presents unique body mass index z score trajectories in youth with type 1 diabetes across three continents

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Osteoporosis is a chronic skeletal condition characterized by low bone mass and deteriorated microarchitecture of bone tissue and puts tens of millions of people at high risk of fractures. New therapeutic agents like i-bodies, a class of next-generation single-domain antibodies, are needed to overcome some limitations of conventional treatments.

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Pathogenic SCN1A variants may be identified in infants with vaccine-proximate febrile seizures

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Current differentiation protocols have not been successful in reproducibly generating fully functional human beta cells in vitro, partly due to incomplete understanding of human pancreas development. Here, we present detailed transcriptomic analysis of the various cell types of the developing human pancreas, including their spatial gene patterns. We integrated single-cell RNA sequencing with spatial transcriptomics at multiple developmental time points and revealed distinct temporal-spatial gene cascades.

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The outcomes of the deliberations and emphasizes the international collaborative efforts required to address the global effects of rare diseases on public health

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People living with rare diseases (PLWRD) still face huge unmet needs, in part due to the fact that care systems are not sufficiently aligned with their needs and healthcare workforce (HWF) along their care pathways lacks competencies to efficiently tackle rare disease-specific challenges. Level of rare disease knowledge and awareness among the current and future HWF is insufficient.

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We identified the existence of more than 290 clinically associated genomic phylogroups across 22 countries, highlighting challenges in designing vaccines of global utility

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The broadening of the clinical definition of autism over time-the so-called, autism spectrum-has run in parallel with the growth of a neurodiversity movement that has reframed the concept of autism entirely. Without a coherent and evidence-based framework through which both of these advances can be situated, the field is at risk of losing definition altogether.