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Clinical practice guidelines for paediatric X-linked hypophosphataemia in the era of burosumabX-linked hypophosphataemia (XLH), the most common inherited form of rickets, is caused by a PHEX gene mutation that leads to excessive serum levels of fibroblast growth factor 23 (FGF23). This leads to clinical manifestations such as rickets, osteomalacia, pain, lower limb deformity and overall diminished quality of life.
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"Capturing the magic": identifying the active ingredients of a physical activity participation intervention for children and youth with disabilitiesThis study aimed to define the active ingredients of a participation-focused physical activity intervention for children and youth with disabilities.
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Neonatal sepsis: a systematic review of core outcomes from randomised clinical trialsThe lack of a consensus definition of neonatal sepsis and a core outcome set proves a substantial impediment to research that influences policy and practice relevant to key stakeholders, patients and parents.
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Epidemiology of gastrostomy insertion for children and adolescents with intellectual disabilityGastrostomy is increasingly used in multiple neurological conditions associated with intellectual disability, with no apparent accessibility barriers
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Very Early Identification and Intervention for Infants at Risk of Neurodevelopmental Disorders: A Transdiagnostic ApproachIn this article, we examine the utility of a transdiagnostic, dimensional approach to very early identification and intervention for infants at risk of neurodevelopmental disorders
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No relationship between autistic traits and salivary testosterone concentrations in men from the general populationThe current data add to the increasing evidence for the lack of relationship between autistic traits and postnatal levels of testosterone in men
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Cardiometabolic risk factors at 5 years after omega-3 fatty acid supplementation in infancySupplementation with n-3 LCPUFA in infancy revealed a reduction in waist circumference at 5 years
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Cochrane corner: hearing aids for mild to moderate hearing loss in adultsThe evidence supports the widespread provision of hearing aids as the first-line clinical management for those seeking help for hearing difficulties
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Higher Serum Immunoglobulin G3 Levels May Predict the Development of Multiple Sclerosis in Individuals With Clinically Isolated SyndromeIgG3 levels and proportions of IgG3 (%IgG) in serum at CIS diagnosis were inversely correlated with the time until conversion to MS
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Tryptophan and arginine catabolic enzymes and regulatory cytokines in clinically isolated syndrome and multiple sclerosisHigher IDO and ARG expression in clinically isolated syndrome and multiple sclerosis provides one sustained homeostatic mechanism to control multiple sclerosis-associated inflammation