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International workshop: what is needed to ensure outcome measures for Rett syndrome are fit-for-purpose for clinical trials? June 7, 2023, Nashville, USAThe clinical, research and advocacy communities for Rett syndrome are striving to achieve clinical trial readiness, including having fit-for-purpose clinical outcome assessments. This study aimed to (1) describe psychometric properties of clinical outcome assessment for Rett syndrome and (2) identify what is needed to ensure that fit-for-purpose clinical outcome assessments are available for clinical trials.
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ORIGINS: Nutritional Profile of Children Aged One Year in a Longitudinal Birth CohortDietary intake during the first year of life is a key determinant of a child's growth and development. ORIGINS is a longitudinal birth cohort study investigating factors that contribute to a 'healthy start to life' and the prevention of non-communicable diseases.
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Rett Syndrome Behaviour Questionnaire in Children and Adults With Rett Syndrome: Psychometric Characterization and Revised Factor StructureRett syndrome (RTT) is a severe neurodevelopmental disorder associated with multiple neurobehavioral abnormalities. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed for pediatric RTT observational studies. Because its application has expanded to adult and interventional studies, we evaluated the RSBQ's psychometric properties in six pediatric (n = 323) and five adult (n = 309) datasets.
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Risk factors for poorer respiratory outcomes in adolescents and young adults born pretermThe respiratory outcomes for adult survivors of preterm birth in the postsurfactant era are wide-ranging with prognostic factors, especially those encountered after the neonatal period, poorly understood.
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Respiratory syncytial virus in children: epidemiology and clinical impact post-COVID-19Respiratory syncytial virus (RSV) remains a leading cause of mortality and morbidity worldwide. RSV seasonality was disrupted by COVID-19-associated nonpharmaceutical interventions (NPIs). We review RSV seasonality, molecular epidemiology, clinical manifestations, and community awareness to inform future prevention strategies.
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Parental awareness and attitudes towards prevention of respiratory syncytial virus in infants and young children in AustraliaTo assess parental awareness of respiratory syncytial virus (RSV) and the level of acceptance of future RSV prevention strategies. A cross-sectional online survey was implemented targeting "future" and "current" parents of children aged ≤5 years in Australia.
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Maternal diet during breastfeeding: Could it influence food allergy risk in children?Human milk is rich in immuno-modulatory factors that have the potential to shape immune development and influence allergy risk in children. In this article, we describe how breast milk may contribute to making the infant less prone to developing allergies.
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Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart diseaseGenomic sequencing in congenital heart disease (CHD) patients often discovers novel genetic variants, which are classified as variants of uncertain significance (VUS). Functional analysis of each VUS is required in specialised laboratories, to determine whether the VUS is disease causative or not, leading to lengthy diagnostic delays.
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Respiratory Health Effects of In Vivo Sub-Chronic Diesel and Biodiesel Exhaust ExposureBiodiesel, which can be made from a variety of natural oils, is currently promoted as a sustainable, healthier replacement for commercial mineral diesel despite little experimental data supporting this. The aim of our research was to investigate the health impacts of exposure to exhaust generated by the combustion of diesel and two different biodiesels.
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Intellectual disabilities and autism among children with congenital heart defects, Western Australia, 1983–2010Children with congenital heart defects (CHDs) are at higher risk of developing an intellectual disability. However, severity of intellectual disabilities among this group of children are largely unknown. Our objective was to determine the risk of intellectual disability (ID), ID severity, and autism among children with CHDs.