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Communication of individuals with CDKL5 deficiency disorder as observed by caregivers: A descriptive qualitative studyCDKL5 deficiency disorder (CDD) is a genetically caused developmental epileptic encephalopathy that causes severe communication impairments. Communication of individuals with CDD is not well understood in the literature and currently available measures are not well validated in this population. Accurate and sensitive measurement of the communication of individuals with CDD is important for understanding this condition, clinical practice, and upcoming interventional trials.
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Developmental origins of psycho-cardiometabolic multimorbidity in adolescence and their underlying pathways through methylation markers: a two-cohort studyUnderstanding the biological mechanisms behind multimorbidity patterns in adolescence is important as they may act as intermediary risk factor for long-term health. We aimed to explore relationship between prenatal exposures and adolescent's psycho-cardiometabolic intermediary traits mediated through epigenetic biomarkers, using structural equation modeling (SEM).
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High-dose chemotherapy for Ewing sarcoma and Rhabdomyosarcoma: A systematic review by the Australia and New Zealand sarcoma association clinical practice guidelines working partyPatients with high-risk or metastatic Ewing sarcoma (ES) and rhabdomyosarcoma (RMS) have a guarded prognosis. High-dose chemotherapy (HDT) with autologous stem cell transplant (ASCT) has been evaluated as a treatment option to improve outcomes. However, survival benefits remain unclear, and treatment is associated with severe toxicities.
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The collaboration on social science and immunisation (COSSI): Global lessons from a successful Australian research and practice networkSamantha Carlson BSc MPH PhD Senior Research Officer Samantha.carlson@telethonkids.org.au Senior Research Officer @samicarlson ORCID Dr Carlson is an
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Genome-Wide Analyses of Vocabulary Size in Infancy and Toddlerhood: Associations With Attention-Deficit/Hyperactivity Disorder, Literacy, and Cognition-Related TraitsThe number of words children produce (expressive vocabulary) and understand (receptive vocabulary) changes rapidly during early development, partially due to genetic factors. Here, we performed a meta-genome-wide association study of vocabulary acquisition and investigated polygenic overlap with literacy, cognition, developmental phenotypes, and neurodevelopmental conditions, including attention-deficit/hyperactivity disorder.
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A systematic search and narrative review of Aboriginal and Torres Strait Islander women and men pelvic health care: demonstrated need for improvementPelvic health conditions among Aboriginal and Torres Strait Islander women and men are under-recognised and under-reported despite indication of the significant burden of these conditions. Access to effective management provided in a culturally safe manner appears lacking.
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Metagenomic Characterisation of the Gut Microbiome and Effect of Complementary Feeding on Bifidobacterium spp. in Australian InfantsComplementary feeding induces dramatic ecological shifts in the infant gut microbiota toward more diverse compositions and functional metabolic capacities, with potential implications for immune and metabolic health. The aim of this study was to examine whether the age at which solid foods are introduced differentially affects the microbiota in predominantly breastfed infants compared with predominantly formula-fed infants.
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Interpregnancy interval and adverse birth outcomes: a population-based cohort study of twinsTo investigate associations between interpregnancy intervals (IPIs) and adverse birth outcomes in twin pregnancies.
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A hospital-based asynchronous ENT telehealth service for children with otitis media: Cost-minimisation and improved accessThe purpose of this study is to explore the effectiveness of a hospital-based asynchronous ear, nose, and throat telehealth service (the Ear Portal) in reducing cost and improving access for children with otitis media.
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A Deep Learning-Based System for the Assessment of Dental Caries Using Colour Dental PhotographsDental caries remains the most common chronic disease in childhood, affecting almost half of all children globally. Dental care and examination of children living in remote and rural areas is an ongoing challenge that has been compounded by COVID.