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Research

The number of words children produce (expressive vocabulary) and understand (receptive vocabulary) changes rapidly during early development, partially due to genetic factors. Here, we performed a meta-genome-wide association study of vocabulary acquisition and investigated polygenic overlap with literacy, cognition, developmental phenotypes, and neurodevelopmental conditions, including attention-deficit/hyperactivity disorder. 

Research

Evidence suggests consumption of a Mediterranean diet (MD) can positively impact both maternal and offspring health, potentially mediated by a beneficial effect on inflammatory pathways. We aimed to apply metabolic profiling of serum and urine samples to assess differences between women who were stratified into high and low alignment to a MD throughout pregnancy and investigate the relationship of the diet to inflammatory markers.  

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To investigate associations between interpregnancy intervals (IPIs) and adverse birth outcomes in twin pregnancies.

Research

Measuring body weight during therapy has received insufficient attention in poor resource settings like Ethiopia. We aimed to investigate the association between weight change during therapy and treatment outcomes among patients with multidrug-resistant tuberculosis in northwest Ethiopia.

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The Indigenous peoples of Australia have a rich linguistic and cultural history. How this relates to genetic diversity remains largely unknown because of their limited engagement with genomic studies. Here we analyse the genomes of 159 individuals from four remote Indigenous communities, including people who speak a language (Tiwi) not from the most widespread family (Pama-Nyungan). This large collection of Indigenous Australian genomes was made possible by careful community engagement and consultation.

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Pelvic health conditions among Aboriginal and Torres Strait Islander women and men are under-recognised and under-reported despite indication of the significant burden of these conditions. Access to effective management provided in a culturally safe manner appears lacking.

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Dental caries remains the most common chronic disease in childhood, affecting almost half of all children globally. Dental care and examination of children living in remote and rural areas is an ongoing challenge that has been compounded by COVID.

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Communication impairments are a leading concern for parent caregivers of individuals with rare neurodevelopmental disorders. Clinical trials of disease modifying therapies require valid and responsive outcome measures that are relevant to individuals with RNDDs. Identifying and evaluating current psychometric properties for communication measures is a critical step towards the selection and use of appropriate instruments. 

Research

CDKL5 deficiency disorder (CDD) is a genetically caused developmental epileptic encephalopathy that causes severe communication impairments. Communication of individuals with CDD is not well understood in the literature and currently available measures are not well validated in this population. Accurate and sensitive measurement of the communication of individuals with CDD is important for understanding this condition, clinical practice, and upcoming interventional trials. 

Research

This study investigated the potential of using SARS-CoV-2 viral Increasing young people's physical activity, along with their motivation and confidence to be active, is widely advocated for supporting desirable health outcomes. Trans and gender diverse (henceforth; trans) young people experience significant physical activity-related barriers compared to cisgender (i.e., an individual for whom gender identity and sex presumed at birth are in alignment) peers.