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MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 (MECP2) gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and gastrointestinal problems. The aim of this qualitative study was to explore how the parents of children with MDS manage their child's seizures, recurrent respiratory infections, and gastrointestinal symptoms, and the impact on them as parents.
To establish the burden of respiratory illness in cerebral palsy (CP) on the Western Australian health care system by quantifying the costs of respiratory hospitalizations in children with CP, compared with non-respiratory hospitalizations.
Global food systems are a central issue for personal and planetary health in the Anthropocene. One aspect of major concern is the dramatic global spread of ultra-processed convenience foods in the last 75 years, which is linked with the rising human burden of disease and growing sustainability and environmental health challenges.
The incidence of anaphylaxis is increasing globally in tandem with changing environmental and lifestyle factors. There is very limited data on very early childhood presentations. We aim to assess changes in rates, characteristics and management of infant anaphylaxis in a paediatric ED over a 15-year period.
Accumulating evidence indicates that an early, robust type 1 interferon (IFN) response to SARS-CoV-2 is important in determining COVID-19 outcomes, with an inadequate IFN response associated with disease severity. Our objective was to examine the prophylactic potential of IFN administration to limit viral transmission.
Managing the care regimen for Type 1 Diabetes is challenging for emerging adults, as they take on greater responsibility for self-management. A diverse range of models of care have been implemented to improve safety and quality of care during transition between paediatric and adult services. However, evidence about acceptability and effectiveness of these is limited.
Healthy Environments And Lives (HEAL) is the Australian national research network established to support improvements to health, the Australian health system, and the environment in response to the unfolding climate crisis. The HEAL Network comprises researchers, community members and organisations, policymakers, practitioners, service providers, and other stakeholders from diverse backgrounds and sectors.
To report the prevalence of cerebral palsy (CP) in children with severe congenital heart defects (sCHD) and the outcome/severity of the CP.
Antimicrobials are the most commonly prescribed drug class in children. Overuse through inappropriate prescribing is a key driver of antimicrobial resistance and is recognized as one of the top 10 threats to global health by the World Health Organization.
The implementation of an intervention protocol aimed at increasing vocal complexity in three pre-linguistic children with cerebral palsy (two males, starting age 15 months, and one female, starting age 16 months) was evaluated utilising a repeated ABA case series design. The study progressed until the children were 36 months of age. Weekly probes with trained and untrained items were administered across each of three intervention blocks.