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MECP2 duplication syndrome (MDS) is an ultrarare, X-linked neurodevelopmental disorder that is poorly understood in terms of its natural history and phenotypic variability. There is limited information on how individuals with MDS acquire, retain or lose fundamental functional skills (gross motor, purposeful hand function and communication) - that of which this study aimed to better characterise in the largest case series to date.
Integrating First Nations knowledge systems and Western research methodologies recognizes the strength, experience, and insight of First Nations peoples in addressing health issues in their communities. In research, this includes projects being led by First Nations Elders and peoples, including First Nations researchers in the team, and collecting data in ways that reflect First Nations ways of knowing, being, and doing.
Social media allows users to connect with others’ experiences and points of view, with TikTok being the fastest-growing platform worldwide. Highly viewed videos related to neurodiversity on TikTok have an increasing role in understanding and acceptance of neurodivergent individuals.
Skin conditions most frequently encountered in paediatric practice include infections, infestations, atopic dermatitis, and acne. Skin of colour refers to skin with increased melanin and darker pigmentation, and reflects global racial and ethnic diversity.
Siblings of children with neurodevelopmental conditions have unique experiences and challenges related to their sibling role. Some develop mental health concerns as measured by self-reported surveys or parent report. Few data are available at the population level, owing to difficulties capturing wide-scale health data for siblings. Data linkage is a technique that can facilitate such research.
Understanding patterns of bacterial carriage and otitis media (OM) microbiology is crucial for assessing vaccine impact and informing policy. The microbiology of OM can vary with geography, time, and interventions like pneumococcal conjugate vaccines (PCVs). We evaluated the microbiology of nasopharyngeal and middle ear effusions in children living in Western Australia, 11 years following the introduction of PCV13.
Urine is an attractive biospecimen for nutritional status and population health surveys. It is an excellent non-invasive alternative to blood for appropriate biomarkers in young children and is suitable for home-based collection, enabling representative collections across a population. However, the bulk of literature in this population is restricted to collection in primary care settings.
Namibia, a low malaria transmission country targeting elimination, has made substantial progress in reducing malaria burden through improved case management, widespread indoor residual spraying and distribution of insecticidal nets. The country's diverse landscape includes regions with varying population densities and geographical niches, with the north of the country prone to periodic outbreaks.
Staphylococcus aureus bloodstream infection is traditionally treated with at least 2 weeks of intravenous antibiotics in adults, 3-7 days in children, and often longer for those with complicated disease. The current practice of treating S. aureus bacteremia with prolonged IV antibiotics (rather than oral antibiotics) is based on historical observational research and expert opinion. Prolonged IV antibiotic therapy has significant disadvantages for patients and healthcare systems, and there is growing interest in whether a switch to oral antibiotics following an initial period of IV therapy is a safe alternative for clinically stable patients.
Clinical decision support systems (CDSS) are increasingly utilised within healthcare settings to enhance decision making. However, few studies have investigated their application in the context of clinical services for autistic people, with no research to date exploring the perspectives of the key stakeholders who are, or in the future may be, impacted by their use.