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Deletions in the CDKL5 5 untranslated region lead to CDKL5 deficiency disorderPathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with CDKL5 deficiency disorder (CDD), a severe X-linked developmental and epileptic encephalopathy.
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Effect of different lung recruitment strategies and airway device on oscillatory mechanics in children under general anaesthesiaAtelectasis has been reported in 68 to 100% of children undergoing general anaesthesia, a phenomenon that persists into the recovery period. Children receiving recruitment manoeuvres have less atelectasis and fewer episodes of oxygen desaturation during emergence. The optimal type of recruitment manoeuvre is unclear and may be influenced by the airway device chosen.
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Associations between natural blue and green space and preschool children's movement behavioursNatural outdoor environments provide important settings for children to engage in physical activity. It is unclear if these relationships also exist in preschool aged children. We examined associations between amount and type of neighbourhood vegetation and blue space, proximity to the beach and preschooler's device-measured movement behaviours.
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Trans Young People’s Experiences of Nonsuicidal Self-InjuryNonsuicidal self-injury (NSSI) is particularly common among trans young people. Trans young people tend to experience high levels of emotional distress due to the unique stressors they face, and often use NSSI as an emotion regulation strategy. These stressors include gender dysphoria, body image concerns, and transphobic experiences.
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Improving screening in a paediatric cohort for cystic fibrosis-related diabetes: A quality improvement projectAndré Schultz MBChB, PhD, FRACP Head, BREATH Team Head, BREATH Team Prof André Schultz is the Head, BREATH Team at The Kids Research Institute
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Development of a Model of Care resource for FASD in the justice systemThis article describes the development of a Model of Care resource to support youth involved with the justice system where a neurodevelopmental disability such as Fetal Alcohol Spectrum Disorder is suspected. Service staff within the Youth Justice sector were engaged in an iterative process of resource development over a 9-month period.
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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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Respiratory syncytial virus in children: epidemiology and clinical impact post-COVID-19Respiratory syncytial virus (RSV) remains a leading cause of mortality and morbidity worldwide. RSV seasonality was disrupted by COVID-19-associated nonpharmaceutical interventions (NPIs). We review RSV seasonality, molecular epidemiology, clinical manifestations, and community awareness to inform future prevention strategies.
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The landscape of genomic structural variation in Indigenous AustraliansIndigenous Australians harbour rich and unique genomic diversity. However, Aboriginal and Torres Strait Islander ancestries are historically under-represented in genomics research and almost completely missing from reference datasets. Addressing this representation gap is critical, both to advance our understanding of global human genomic diversity and as a prerequisite for ensuring equitable outcomes in genomic medicine.
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Altered dietary behaviour during pregnancy impacts systemic metabolic phenotypesEvidence suggests consumption of a Mediterranean diet (MD) can positively impact both maternal and offspring health, potentially mediated by a beneficial effect on inflammatory pathways. We aimed to apply metabolic profiling of serum and urine samples to assess differences between women who were stratified into high and low alignment to a MD throughout pregnancy and investigate the relationship of the diet to inflammatory markers.