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Research
Consultation informs strategies for improving the use of functional evidence in variant classificationWhen investigating whether a variant identified by diagnostic genetic testing is causal for disease, applied genetics professionals evaluate all available evidence to assign a clinical classification. Functional assays of higher and higher throughput are increasingly being generated and, when appropriate, can provide strong functional evidence for or against pathogenicity in variant classification. Despite functional assay data representing unprecedented value for genomic diagnostics, challenges remain around the application of functional evidence in variant curation.
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Measuring cognitive and affective empathy across positive and negative emotions: psychometric properties and measurement invariance of the Perth Empathy ScaleEmpathy, a complex and multidimensional construct essential for social functioning and mental health, has been extensively studied in both research and clinical settings. The Perth Empathy Scale (PES), a recently developed self-report measure, assesses cognitive and affective empathy across both positive and negative emotions and is based on the self-other model of empathy. This study aimed to evaluate the psychometric properties of the Persian version of the PES in large Iranian sample.
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Intellectual disability and autism prevalence in Western Australia: impact of the NDISEstimates of the prevalence of intellectual disability or autism spectrum disorder may vary depending on the methodology, geographical location, and sources of ascertainment. The National Disability Insurance Scheme in Australia was introduced progressively from 2016 to provide individualized funding for eligible people with a significant and permanent disability.
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Absence of association between maternal adverse events and long-term gut microbiome outcomes in the Australian autism biobankMaternal immune activation and prenatal maternal stress are well-studied risk factors for psychiatric conditions such as autism and schizophrenia. Animal studies have proposed the gut microbiome as a mechanism underlying this association and have found that risk factor-related gut microbiome alterations persist in the adult offspring.
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Critical Appraisal of Systematic Reviews Assessing Gut Microbiota and Effect of Probiotic Supplementation in Children with ASD—An Umbrella ReviewGiven the significance of gut microbiota in autism spectrum disorder (ASD), we aimed to assess the quality of systematic reviews (SRs) of studies assessing gut microbiota and effects of probiotic supplementation in children with ASD. PubMed, EMBASE, PsycINFO, Medline, and Cochrane databases were searched from inception to November 2024.
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Accuracy of a 2-minute eye-tracking assessment to differentiate young children with and without autismEye-tracking could expedite autism identification/diagnosis through standardisation and objectivity. We tested whether Gazefinder autism assessment, with Classification Algorithm derived from gaze fixation durations, would have good accuracy (area under the curve [AUC] ≥ 0.80) to differentiate 2-4-year-old autistic from non-autistic children.
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Structured review of primary interventions to reduce group A streptococcal infections, acute rheumatic fever and rheumatic heart diseaseRheumatic heart disease (RHD) is a large, preventable, global public health burden. In New Zealand (NZ), acute rheumatic fever (ARF) and RHD rates are highest for Māori and Pacific children. This structured review explores the evidence for primary prevention interventions to diagnose and effectively treat group A Streptococcus (GAS) pharyngitis and skin infections to reduce rates of ARF and RHD.
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Call for a national sore throat guidelineAustralia needs a single national pharyngitis guideline to assist in providing rational, consistent and timely antibiotic treatment to patients at high risk of ARF
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Position statement of the World Heart Federation on the prevention and control of rheumatic heart diseaseIn the 21st century, rheumatic fever (RF) and rheumatic heart disease (RHD) are neglected diseases of marginalized communities.
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The Heart Health Yarning Tool: Co-Designing a Shared Decision-Making Tool With Aboriginal and Torres Strait Islander People for Cardiovascular Disease Prevention and Risk ManagementDue to the ongoing impact of colonisation, Aboriginal and Torres Strait Islander people live with a greater burden of cardiovascular disease (CVD) than non-Indigenous Australians. Shared decision-making (SDM) is recognised as an essential component of person-centred care. However, there has been a lack of tools to support clinician communication and SDM to address CVD prevention in this important 'at-risk' population.