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Research

Recommendations from a consensus development workshop on the diagnosis of fetal alcohol spectrum disorders in Australia.

Fetal alcohol spectrum disorders (FASD) are underdiagnosed in Australia, and health professionals have endorsed the need for national guidelines for diagnosis.

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Novel oncogenic PDGFRA mutations in pediatric high-grade gliomas

The outcome for children with high-grade gliomas (HGG) remains dismal, with a 2-year survival rate of only 10% to 30%.

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Excessive daytime sleepiness increases the risk of motor vehicle crash in obstructive sleep apnea

Our objectives were to describe the incidence rate of motor vehicle crashes (MVCs) in patients with obstructive sleep apnea (OSA) and to investigate MVC risk...

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The Differential Influence of Contextual Risks on Psychosocial Functioning and Participation of Australian Aboriginal Youth

Methodological issues and implications for interventions to support young Aboriginal people's adaptation are discussed.

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Chest computed tomography: a validated surrogate endpoint of cystic fibrosis lung disease?

Clinical trials for the treatment of cystic fibrosis (CF) lung disease are important to test and optimise new therapeutic interventions.

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Proteomics confirms immune stabilizing effects of narrowband UVB treatment in patients with clinically isolated syndrome and multiple sclerosis

Multiple sclerosis (MS) demonstrates a latitude gradient in prevalence and severity, implicating ultraviolet B (UVB) exposure and photoimmune mechanisms in disease risk and progression. While narrowband (NB)-UVB phototherapy has long stabilized inflammation in dermatology, its systemic immunomodulatory effects in MS remain incompletely defined.

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Expanding Tidy Data Principles to Facilitate Missing Data Exploration, Visualization and Assessment of Imputations

Despite the large body of research on missing value distributions and imputation, there is comparatively little literature with a focus on how to make it easy to handle, explore, and impute missing values in data. This paper addresses this gap. The new methodology builds upon tidy data principles, with the goal of integrating missing value handling as a key part of data analysis workflows.

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Characterizing predictors of response to behavioral interventions for children with autism spectrum disorder: A meta-analytic approach

A comprehensive understanding of specific factors contributing to variability in responsiveness of children with autism to interventions is paramount for making evidence-based clinical and policy decisions. This meta-analysis examined child and family characteristics, as well as intervention design factors, associated with outcomes of behavioral interventions for children with autism. 

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‘Feeling like you can't do anything because you don't know where to start’—Parents' Perspectives of Barriers and Facilitators to Accessing Early Detection for Children at Risk of CP

Early detection of cerebral palsy (CP) risk is possible from 12 weeks corrected gestational age (CGA) using standardised assessments; however, up to half of children at risk are not referred early, missing out on early intervention. We investigated the barriers and facilitators to accessing early intervention from the perspective of parents of children who did not receive services by 6 months CGA.

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Plasma testosterone concentration is correlated with circulating immune cell abundance in transgender young people on gender-affirming hormone treatment

Sex hormones, such as oestrogen and testosterone, display significant immune modulatory properties. This is highly relevant for transgender (trans) people who undergo gender-affirming hormone (GAH) treatment. However, only a limited number of studies have evaluated the immunological impact of GAH treatments, and almost none have assessed the impact in trans young people.