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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).
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.
Protection of newborns from infection can be achieved through maternal or vaccine-induced antibodies, but the factors influencing vaccine protection (correlate of protection) and subsequent infant immunity remain insufficiently understood. Further investigation is essential to optimize early-life vaccination strategies.
The first peanut oral immunotherapy (OIT) for children was approved by the US Food and Drug Administration (FDA) in 2020. While clinical efficacy is established, evidence on cost-effectiveness-whether the benefits outweigh the costs and adverse effects-remains limited. A variant of OIT, known as probiotic and peanut OIT (PPOIT), has shown similar efficacy in trials.
Respiratory syncytial virus (RSV) is a significant cause of respiratory infections in young children. Since 2021, RSV has been a notifiable disease in Australia. However, current surveillance systems focus on hospitalised RSV, with limited surveillance at a community level through primary care clinics. This approach only captures RSV requiring hospitalisation. Less severe illnesses, while not captured, may have significant social and economic impacts including the associated cost of care and absenteeism. The aim of this study is to establish an understanding of the broader burden of RSV in young children in a community setting.
Although uncommon, invasive meningococcal disease (IMD) results in death in 5%-10% of cases in healthy children and adolescents. This study aimed to examine demographics, clinical presentation, treatment and outcomes of Australian children hospitalized with IMD during the introduction of the meningococcal vaccine program, overall and by serogroup/disease severity.
Pneumococcal conjugate vaccine (PCV) prevents pneumococcal disease and pneumonia, but indirect effects are poorly understood in low-coverage, high-burden settings like Papua New Guinea (PNG). PNG introduced 13-valent PCV (PCV13) in 2014. We aimed to assess direct and indirect effectiveness of PCV13 against vaccine-type pneumococcal carriage among children with pneumonia or suspected meningitis in PNG
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.
Belaynew Christopher Peter Hannah Minda Huong Taye Blyth Richmond Moore Sarna Le MD, MPH, PhD MBBS (Hons) DCH FRACP FRCPA PhD MBBS MRCP(UK) FRACP OAM