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The Power of Playgroups: Key components of supported and therapeutic playgroups from the perspective of parentsPlaygroups are community-based programs for children and families aiming to improve child outcomes, enhance family and community networks and increase parenting capacity. Despite the prevalence of playgroups in Australian communities there is a lack of research clearly articulating the key components of playgroups, specifically from the perspective of parents attending these groups.
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Randomised Controlled Trial of a Therapeutic Playgroup for Children with Developmental DelaysA single-blind randomised control trial investigated the effectiveness of the Learn, Engage and Play (LEaP) playgroup. Seventy-one children with developmental delay were randomly allocated to an 8-week LEaP playgroup or control group and followed up at 12 and 28 weeks.
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Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disordersWe aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. Clinical and genetic data from affected individuals were collected through Facebook-based family support group, GeneMatcher, and our network of collaborators.
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Incidence of acute rheumatic fever in northern and western Uganda: a prospective, population-based studyAcute rheumatic fever is infrequently diagnosed in sub-Saharan African countries despite the high prevalence of rheumatic heart disease. We aimed to determine the incidence of acute rheumatic fever in northern and western Uganda.
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Developmental Origins of Health and Disease (DOHaD): The importance of life-course and transgenerational approachesWith well-established evidence that early life conditions have a profound influence on lifespan and health-span, new interventional birth cohorts are examining ways to optimise health potential of individuals and communities. These are aimed at going beyond preventing disease, to the conditions that facilitate flourishing from an early age.
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Australia needs a prioritised national research strategy for clinical trials in a pandemic: lessons learned from COVID-19The emergence of the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), sparking a global pandemic, has driven an imperative to quickly design and conduct treatment studies. We strongly propose a national, coordinated approach for randomised controlled trials (RCTs) for coronavirus disease 2019 (COVID-19), future pandemics and inter-pandemic periods in Australia.
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Oral parafunction and bruxism in Rett syndrome and associated factors: An observational studyTo explore patterns of parafunction, and bruxism, and its relationships with genotype and snoring in individuals with Rett syndrome.
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Maternal Late-Pregnancy Serum Unmetabolized Folic Acid Concentrations Are Not Associated with Infant Allergic Disease: A Prospective Cohort StudyThe increase in childhood allergic disease in recent decades has coincided with increased folic acid intakes during pregnancy. Circulating unmetabolized folic acid (UMFA) has been proposed as a biomarker of excessive folic acid intake. We aimed to determine if late-pregnancy serum UMFA and total folate concentrations were associated with allergic disease risk in the offspring at 1 y of age in a population at high risk of allergy.
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Conduct of neuro-oncology multidisciplinary team meetings and closing the "gaps" in the clinical management of childhood central nervous system tumors in a middle-income countryMultidisciplinary team meetings (MDTMs) are essential in the clinical management of pediatric central nervous system (CNS) tumors. Evaluations of the impact of MDTMs on childhood CNS tumors and clinicians' perspectives on their effectiveness are scarce.
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Variants associated with HHIP expression have sexdifferential effects on lung functionLung function is highly heritable and differs between the sexes throughout life. However, little is known about sexdifferential genetic effects on lung function. We aimed to conduct the first genome-wide genotype-by-sex interaction study on lung function to identify genetic effects that differ between males and females.