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Research
Single-cell data combined with phenotypes improves variant interpretationWhole genome sequencing offers significant potential to improve the diagnosis and treatment of rare diseases by enabling the identification of thousands of rare, potentially pathogenic variants. Existing variant prioritisation tools can be complemented by approaches that incorporate phenotype specificity and provide contextual biological information, such as tissue or cell-type specificity.
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The relationship between administratively recorded ethnicity and outcomes for people admitted to Australian intensive care units with COVID-19The relationship between ethnicity and mortality of patients critically ill with COVID-19 in Australia has not been described. Defining those communities at the highest risk of severe COVID-19 may assist with formulating effective public health policy and may improve the equitable delivery of health care in Australia.
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A Multisite Randomized Controlled Trial of Hand Arm Bimanual Intensive Training Including Lower Extremity for Children with Bilateral Cerebral PalsyTo test the efficacy of Hand Arm Bimanual Intensive Therapy Including Lower Extremity (HABIT-ILE) to improve gross motor function, manual ability, goal performance, walking endurance, mobility, and self-care for children with bilateral cerebral palsy.
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Implementation Fidelity of a Smartphone Application for Population-Based General Movement Assessment: The Early Moves StudyTo describe the infant and maternal characteristics of the Early Moves cohort and to assess representativeness to the general population, and to evaluate the implementation fidelity of an application-based collection of General Movement Assessment (GMA) videos at writhing and fidgety age.
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Hospitalizations Following Complex Hip Surgery in Children with Intellectual Disability: A Self-Controlled Case Series AnalysisTo evaluate the associations between complex hip surgery and subsequent hospitalizations in children with intellectual disability, including a subset of children with cerebral palsy.
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Measuring the Burden of Epilepsy Hospitalizations in CDKL5 Deficiency DisorderInformation on the hospital service use among individuals with CDKL5 Deficiency Disorder, an ultrarare developmental epileptic encephalopathy, is limited, evidence of which could assist with service planning. Therefore, using baseline and longitudinal data on 379 genetically verified individuals in the International CDKL5 Disorder Database, we aimed to investigate rates of seizure-related and other hospitalizations and associated length of stay in this cohort.
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An Overview of the Skin Microbiome, the Potential for Pathogen Shift, and Dysbiosis in Common Skin PathologiesRecent interest in the diverse ecosystem of bacteria, fungi, parasites, and viruses that make up the skin microbiome has led to several studies investigating the microbiome in healthy skin and in a variety of dermatological conditions.
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Geospatial mapping of drug-resistant tuberculosis prevalence in Africa at national and sub-national levelso map subnational and local prevalence of drug-resistant tuberculosis (DR-TB) across Africa. We assembled a geolocated dataset from 173 sources across 31 African countries, comprising drug susceptibility test results and covariate data from publicly available databases. We used Bayesian model-based geostatistical framework with multivariate Bayesian logistic regression model to estimate DR-TB prevalence at lower administrative levels.
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Health system and environmental factors affecting global progress towards achieving End TB targets between 2015 and 2020Health system and environmental factors play a significant role in achieving the World Health Organization End Tuberculosis (TB) targets. However, quantitative measures are scarce or non-existent at a global level. We aimed to measure the progress made towards meeting the global End TB milestones from 2015 to 2020 and identify health system and environmental factors contributing to the success.
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Neurodevelopmental impairment in children with Robin sequence: A systematic review and meta-analysisEstimate the global prevalence of neurodevelopmental impairment in children with Robin sequence (RS) at one year or more of age.