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Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanismsCornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features.
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Quality of life beyond diagnosis in intellectual disability – Latent profilingTo compare quality of life (QOL) across diagnoses associated with intellectual disability, construct QOL profiles and evaluate membership by diagnostic group, function and comorbidities.
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How does the school built environment impact students’ bullying behaviour? A scoping reviewSchool bullying is a public health concern affecting the physical and mental health of children and young people. While school-based interventions to prevent bullying have been developed internationally, the effectiveness of many interventions has been mixed and modest.
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The Utility of Natural Language Samples for Assessing Communication and Language in Infants Referred with Early Signs of AutismNatural Language Sampling (NLS) offers clear potential for communication and language assessment, where other data might be difficult to interpret. We leveraged existing primary data for 18-month-olds showing early signs of autism, to examine the reliability and concurrent construct validity of NLS-derived measures coded from video-of child language, parent linguistic input, and dyadic balance of communicative interaction-against standardised assessment scores. Using Systematic Analysis of Language Transcripts (SALT) software and coding conventions, masked coders achieved good-to-excellent inter-rater agreement across all measures.
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Factors influencing participation in home, school, and community settings by children and adolescents with neuromuscular disorders: A qualitative descriptive studyThis study explored how children and adolescents with a neuromuscular disorder (NMD) and their parents experienced barriers and enablers to the child's participation.
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Psychological Wellbeing Amongst Parents of Trans Children: An in-Depth Qualitative InvestigationResearch has shown that parents of trans children face numerous challenges as they navigate their parenting role, however, little is known about the impact of these challenges on parents’ psychological wellbeing.
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Effectiveness of 7-Valent Pneumococcal Conjugate Vaccine Against Invasive Pneumococcal Disease in Medically At-Risk Children in Australia: A Record Linkage StudyChildren with chronic medical conditions are at higher risk of invasive pneumococcal disease (IPD), but little is known about the effectiveness of the primary course of pneumococcal conjugate vaccine (PCV) in these children.
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A comparison of parent-reported and self-reported psychosocial function scores of the PedsQL for children with non-severe burnQuality of life of paediatric patients after burn injury is often assessed through parents who may score differently to their child. Non-severe burns are the most common type of burn injury in Western Australia, however, despite low severity and high survival rates, they can cause long term physical and psychosocial problems which need to be detected early in order to provide patients with optimal holistic care.
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Strengthening assessment and response to mental health needs for Aboriginal and Torres Strait Islander children and adolescents in primary care settings: study protocol for the Ngalaiya Boorai Gabara Budbut implementation projectOpportunities for improved mental health and wellbeing of Aboriginal and Torres Strait Islander children and young people lie in improving the capability of primary healthcare services to identify mental healthcare needs and respond in timely and appropriate ways.
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FastMix: a versatile data integration pipeline for cell type-specific biomarker inferenceFlow cytometry (FCM) and transcription profiling are the two widely used assays in translational immunology research. However, there is no data integration pipeline for analyzing these two types of assays together with experiment variables for biomarker inference.