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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.
Serosurveys are considered as a valuable tool in estimating population immunity and infection rates but recruitment of children to provide paediatric estimates can be challenging. A novel approach of sampling children undergoing anaesthesia was utilised for a SARS-CoV-2 serosurvey in Australian children and we explore the reasons for participation, feedback on the approach and importance of research into Coronavirus Diseases 2019 (COVID-19).
Maternal influenza and pertussis vaccination is an important strategy to reduce morbidity and mortality in infants. Previous vaccine safety studies have mostly focused on the association between maternal vaccination and fetal death.
Acute rheumatic fever is an immune-mediated condition triggered by Streptococcus pyogenes sore throat and possibly skin infection, with a substantial burden in resource-limited settings. Clinical decision rules (CDRs) are commonly used to guide antibiotic treatment of sore throat based on signs and symptoms, but their diagnostic accuracy varies by study and setting. This work aimed to assess the accuracy of multiple CDRs in Fiji to diagnose S. pyogenes sore throat.
To investigate the follow-up and outcomes of HIV-exposed infants in a setting of low HIV prevalence. This was a multicenter, retrospective study of live-born infants of women known to be living with HIV, at 9 tertiary pediatric centers in Australia and New Zealand from 2009-2025. Antenatal, perinatal, and postnatal data, and outcomes at clinic visits to 18 months of age were collected, including co-morbidities, development, and HIV results.
The prevalence of impetigo and pharyngitis - which are both superficial group A streptococcus (GAS) infections that precede acute rheumatic fever - is poorly defined. Guidelines recommend the early diagnosis of both infections to prevent ARF; however, screening to enable the concurrent detection of these infections in high-risk populations has rarely been performed.
Convalscent plasma (CP) was identified as a potential therapy for COVID-19 available early in the pandemic.
Dynamic molecular changes in early life follow a robust ontogeny as the infant immune system adapts to the demands of its new environment. Studies of plasma immunomodulatory cytokines and chemokines have previously demonstrated ontogenetic patterns of immune development across the first week of life. However, how plasma cytokine and chemokines concentrations evolve over the first 4 months of life remains unknown.
Otitis media (OM), or middle ear infection, is one of the most common childhood illnesses globally. In Australia, OM remains a leading cause of antibiotic prescriptions in children, despite growing awareness of antimicrobial resistance (AMR) and the need for stewardship. Preventing OM not only reduces the burden of disease but also plays a critical role in curbing unnecessary antibiotic use and slowing the rise of AMR.
Invasive mould infection (IMI) is a major cause of morbidity and mortality in immunocompromised children. Outcomes for paediatric patients with IMI remain poor, due in part to the limitations of available diagnostic tools and therapeutic agents.