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Research
Mosaic Darier disease flaring following allogeneic stem cell transplantBernadette Ricciardo MBBS (hon) DCH FACD PhD Candidate Bernadette.Ricciardo@thekids.org.au PhD Candidate Dr Bernadette Ricciardo is a PhD student on
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Prenatal, perinatal, and neonatal risk factors for specific language impairment: A prospective pregnancy cohort studyAlthough genetic factors are known to play a causal role in specific language impairment (SLI), environmental factors may also be important. This study...
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Outcomes of latent rheumatic heart disease: External validation of a simplified score in patients with and without secondary prophylaxisSecondary antibiotic prophylaxis reduces progression of latent rheumatic heart disease (RHD) but not all children benefit. Improved risk stratification could refine recommendations following positive screening. We aimed to evaluate the performance of a previously developed echocardiographic risk score to predict mid-term outcomes among children with latent RHD.
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FDA Patient-Focused Drug Development Guidances: Considerations for Trial Readiness in Rare Developmental and Epileptic EncephalopathiesDevelopmental and epileptic encephalopathies (DEE) are rare, often monogenic neurodevelopmental conditions. Most affected individuals have refractory seizures. All have multiple severe impairments which can be as life-limiting as or more limiting than the seizures themselves. Mechanism- and gene-targeted therapies for these individually rare, genetic conditions hold hope for treatment, amelioration of disease expression, and even cure.
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Perinatal testosterone exposure and cerebral lateralisation in adult males: Evidence for the callosal hypothesisTwo competing theories address the influence of foetal testosterone on cerebral laterality: one proposing exposure to high foetal testosterone concentrations...
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Gut microbiota and metabolomics profiles in patients with chronic stable angina and acute coronary syndromeCardiovascular disease is the leading cause of death worldwide. The gut microbiota and its associated metabolites may be involved in the development and progression of CVD, although the mechanisms and impact on clinical outcomes are not fully understood. This study investigated the gut microbiome profile and associated metabolites in patients with chronic stable angina and acute coronary syndrome compared with healthy controls.
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Re-analysis of the association between perinatal androgens and postnatal head circumference growthThis paper is a correction of an earlier report that identified a link between exposure to high levels of testosterone during pregnancy and reduced head...
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Measurement of androgen and estrogen concentrations in cord blood: Accuracy, biological interpretation, and applications to understanding human behavioral developmentThis review examines the accuracy and biological interpretation of the measurement of androgens and estrogens in cord blood. The use of cord blood hormones...
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In safe hands: child health data storage, linkage and consent for useWhile there is potential for societal benefit from linkage and integration of large datasets, there are gaps in our understanding of the implications for children and young people, and limited inclusion of their views within this discourse. We aimed to understand the views and expectations of children, young people and their parents/caregivers in Aotearoa New Zealand regarding child health data storage, linkage and consent for use.
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Protocol for the development of a core outcome set for neonatal sepsis (NESCOS)Neonatal sepsis is a serious public health problem; however, there is substantial heterogeneity in the outcomes measured and reported in research evaluating the effectiveness of the treatments. Therefore, we aim to develop a Core Outcome Set (COS) for studies evaluating the effectiveness of treatments for neonatal sepsis.
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Characterizing Transdiagnostic Processes Underlying the Drive to Socially Engage: A Multimeasurement Factor Analytic InvestigationAltered drive to socially engage is a transdiagnostic feature across multiple psychopathologies. Yet, lack of clarity regarding specific processes that constitute social drive, along with insufficient measurement methods, has hindered understanding in this area. This study ascertained the feasibility of approximating difficulties within specific fine-grained social drive processes as proposed by 2 theoretical frameworks: “orienting,” “wanting,” “pursuing,” “liking,” “learning,” and “reticence” within a reward processing framework and “orienting,” “seeking and maintaining,” and “liking” within a social motivation framework.
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Physical activity behaviors in trans and gender diverse adults: a scoping reviewThere is currently limited data regarding the physical activity behaviors of trans and gender diverse people (including binary and non-binary identities; henceforth trans). The aim of this review was to synthesize the existing literature in this area, with a focus on physical activity behaviors as they relate to health (e.g. health benefits, risks of adverse health outcomes).
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Further examination of the reducing transition rate in ultra high risk for psychosis samples: The possible role of earlier interventionThe rate of transition to psychotic disorder in ultra high risk (UHR) patients has declined in recent cohorts. The reasons for this are unclear, but may...
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What does better look like in individuals with severe neurodevelopmental impairments? A qualitative descriptive study on SCN2A-related developmental and epileptic encephalopathyThere are limited psychometric data on outcome measures for children with Developmental Epileptic Encephalopathies (DEEs), beyond measuring seizures, and no data to describe meaningful change. This study aimed to explore parent perceptions of important differences in functional abilities that would guide their participation in clinical trials.
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Baseline grey matter volume of non-transitioned "ultra high risk" for psychosis individuals with and without attenuated psychotic symptomsDifferences in regional GMV are discernible at an early stage of UHR and may be specific to individuals who have APS and psychopathology at follow-up
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How Well Does the EQ-5D-Y-5L Describe Children With Intellectual Disability?: “There's a Lot More to My Child Than That She Can't Wash or Dress Herself.”The EQ-5D-5L is a generic health utility instrument for measuring health-related quality of life (HRQoL), with self-report and proxy report versions for children (EQ-5D-Y-5L). Children with intellectual disability (ID) are a heterogeneous population whose impairments and comorbidities place them at risk of poor HRQoL. This study aimed to describe the content validity and suitability for children with ID of a proxy report version of the EQ-5D-Y-5L as seen by their caregivers.
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Evaluation of the Acceptability and Feasibility of the Social Attention and Communication Surveillance-Revised (SACS-R) Tool for Early Identification of Autism in Preterm InfantsPreterm birth is associated with a 3.3-fold increased likelihood of autism diagnosis, with lower gestational age conferring higher likelihood. In Australia, autism is typically diagnosed at around age four, potentially missing the optimal neuroplasticity window before age two. The Social Attention and Communication Surveillance-Revised (SACS-R) tool identifies early autism signs in children aged 11-30 months, enabling pre-emptive intervention.
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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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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.