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The risk of congenital anomalies following first-trimester medication exposure is an important indicator of medication safety during pregnancy. Retrospective cohort studies using routinely collected data are commonly used to assess this risk, yet methodological inconsistencies-such as how cohorts, exposures, timings and outcomes are defined-can compromise reproducibility and validity. This scoping review examined the methodologies used in retrospective cohort studies assessing the association between first-trimester prenatal medication exposure and congenital anomalies.
X-linked hypophosphatemia (XLH) is a rare, X-linked dominant condition with a high burden of both physical and psychosocial disease. This study aimed to describe the experience and burden of disease for children and adults living with XLH in Australia by inviting affected individuals and their carers to complete an online questionnaire. Of the 46 responses, half were completed by a person with XLH, and half by carers. Thirty percent were male, 33% were aged less than 18 yr.
Citation: Passmore H. Neurodiversity (in)Justice: Learnings for Australia from international approaches to supporting neurodivergent people in
Citation: Gardner M, Shah S, Jain N, Bynevelt M. Rare Occurrence of Congenital Neuroblastoma and Tuberous Sclerosis. Pediatr Neurol. 2026;176:62-3.
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.
This study evaluated the clinical utility of the Parent Listening and Understanding Measure (PLUM) questionnaire as a potential screening tool for otitis media (OM) and associated hearing loss in Aboriginal and/or Torres Strait Islander and non-Aboriginal children.
A considerable proportion of patients with type 1 diabetes (T1D) experience emotional problems due to the continual demands of the disease, which may persist throughout life without appropriate support. The aim of this study was to assess the feasibility and acceptability of an Acceptance and Commitment Therapy (ACT) intervention and provide early indications of its capacity to impact psychosocial outcomes for adolescents with T1D.
Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting predominantly females and associated with variants in the MECP2 gene. Recent success in clinical trials have resulted in an expanded use of the Rett Syndrome Behaviour Questionnaire (RSBQ) for clinical and research purposes.
To determine the efficacy of advanced hybrid closed-loop therapy in a high-risk cohort of youth on continuous subcutaneous insulin infusion with or without continuous glucose monitoring with suboptimal glycemia.
Virtual reality is used as a distraction tool during medical procedures that can cause anxiety and pain. We assessed the usefulness, engagement, value and feasibility of virtual reality to help children cope with routine clinical procedures.