Archives of Disease in Childhood

ImportanceWhole genome sequencing (WGS) is increasingly used to diagnose severely ill children, yet the long-term impact of a genetic diagnosis on healthcare utilization and resource allocation remains poorly understood. ObjectiveTo determine the influence of a genetic diagnosis via WGS on long-term healthcare utilization metrics in severely ill children. DesignA retrospective cohort study using data from the Next Generation Children study (2016-2020) with record linkage and analysis of primar...

BackgroundPediatric long COVID is associated with substantial symptom burden, yet evidence-based pharmacologic treatments remain limited. Low-dose naltrexone (LDN) has been proposed as a potential symptomatic therapy, but data in pediatric populations is lacking. MethodsWe conducted a retrospective analysis of pediatric and young adult patients ([≤]25 years) with a clinical diagnosis of long COVID who were prescribed LDN between July 2020 and July 2025 at three multidisciplinary pediatric lo...

PurposeCaregivers of children with complex neurodisability frequently experience high caregiving demands, social isolation, unmet support needs, and reduced wellbeing. This paper explores caregivers perceptions of the impact of "Encompass", a ten-modular, community-based group support programme for caregivers of children under five with complex neurodisability, co-facilitated by an expert parent. Materials and methodsThis study formed part of a pilot and feasibility study conducted in two socia...

BackgroundAsthma is a frequent comorbidity in children with sickle cell disease and has been associated with an increased risk of acute complications, particularly vaso-occlusive crises and acute chest syndrome. However, determinants of clinical severity among children with sickle cell disease and confirmed asthma remain poorly characterized, especially in tropical settings. This study aimed to identify factors associated with clinical severity in this population. MethodsWe conducted an observa...

BackgroundCaregiver skills training programmes are well-researched in the fields of autism and intellectual disability, but children with motor disorders such as cerebral palsy remain underrepresented despite their high prevalence. These caregivers face unique challenges, and group programmes may provide family-centred care through information provision, problem-solving and peer support. MethodsSystematic searches of five databases (CINAHL, Medline, Embase, PsychINFO and ERIC) were conducted fo...

ImportanceCurrent guidelines from the World Health Organization, Centers for Disease Control and Prevention, and Academy of Breastfeeding Medicine recommend discarding all milk remaining in bottles immediately after infant feeding. However, these recommendations lack supporting microbiological evidence from studies of actual infant feeding, imposing substantial financial and emotional burden on the 78 million families worldwide who bottle-feed their infants. ObjectiveTo determine (1) the financ...

Introduction"Encompass" is a participatory group-based intervention originating from low- and middle-income countries, co-developed with parents and professionals to enhance the wellbeing, health literacy and empowerment of caregivers of young children with complex neurodisability. We aimed to assess feasibility and acceptability of a) intervention delivery in two socially deprived United Kingdom (UK) urban areas and b) evaluation methods including data collection on programme outcomes and costs...

BackgroundPediatric eczema is a highly prevalent condition that often causes substantial suffering among affected children and their families. Numerous modifiable lifestyle and environmental risk factors for the condition have been identified, although these risk factors and related interventions have generally been studied in isolation. The goal of this study was to evaluate the effects of an integrative program for parents of children with eczema that simultaneously addressed multiple lifestyl...

Background and ObjectivesDecision-making about resuscitating a critically ill child is complex yet common. We aimed to study the survival thresholds at which physicians, compared to parents, decide to treat or withhold resuscitating a child. Moreover, we aimed to compare physicians survival estimates with those from a nationwide registry. MethodsWe conducted a cross-sectional survey-based study in the United States. Clinical vignettes based on hypothetical survival probabilities were used to st...

BackgroundNeonatal jaundice management increasingly relies on transcutaneous bilirubinometry (TcB), yet discrepancies with serum bilirubin (TSB) have limited its clinical reliability. This study introduces Skin Residual Bilirubin Volume (SRBV) as a physiologically grounded framework to enhance TcB interpretation. ObjectiveTo evaluate SRBV as an explanation for TcB-TSB discordance and assess whether incorporating SRBV improves the interpretability and reliability of TcB measurements during diagn...

BackgroundThe influence of genetic and environmental factors, especially during early development, is critical in the pathogenesis of autism. Maternal autoantibodies that recognize specific fetal brain proteins can be strong predictors of autism risk. These antibodies cross the placenta and bind to their target antigens, which play critical roles in neurodevelopment, thereby increasing autism risk. This etiologically defined subtype is now referred to as Maternal Autoantibody-Related Autism (MAR...

Pediatric asthma exacerbations are a frequent cause of emergency department (ED) visits and hospitalizations, yet accurate risk prediction remains limited and no consensus risk scores exist. Using UF Health electronic health records (EHRs) from 2011-2023, we evaluated two computable phenotypes (i.e., CAPriCORN and COMPAC) to predict exacerbations over 6-, 12-, and 24-month horizons. Exacerbations were defined using a validated composite of diagnosis codes from ED, inpatient, or outpatient encoun...

ObjectiveTo evaluate whether new tuberculosis (TB) tools in the electronic health record (EHR) can support latent TB infection (LTBI) screening, testing and treatment among children and adolescents in a primary care setting. Study DesignThis retrospective cohort study included children and adolescents between the ages 1-25 years who had a well-child or well-adolescent visit at a Federally Qualified Health Center in Oakland, California, from December 2021 to December 2022. Four new EHR tools wer...

ImportancePrenatal cannabis exposure is increasing in prevalence, yet its associations with early brain development--particularly how the timing and frequency of exposure across gestation relate to neonatal brain structure--remain insufficiently understood. Clarifying these associations is essential for informing early risk identification and guiding perinatal care. ObjectiveTo examine associations between patterns of maternal prenatal cannabis exposure, including exposure presence, gestational...

AbstractO_ST_ABSObjectiveC_ST_ABSTo describe the existing status and associated factors influencing the utilization of four WHO-recommended essential newborn care among mothers of infants aged 45 days to one year in rural Sidama, Ethiopia. DesignA community-based cross-sectional household survey was conducted in June and July 2023. Data were collected through interviewing mothers of infants using pretested questionnaire. Participants were selected through a multi-stage sampling. Data were analy...

PurposeWhile genomic testing is integral to pediatric inborn errors of immunity (IEI) care, few studies have examined strategies to support its optimal delivery. This study aimed to characterize a pediatric IEI cohort and assess the impact of implementing a mainstream model-of-care (MoC). Materials/MethodsComprehensive chart audit was conducted for patients ([≤]18y) who received IEI genomic testing in Queensland, Australia, from 2017-2025. Descriptive analyses captured demographic and clinic...

Premature birth occurs during a phase of intense brain maturation, making white matter (WM) particularly vulnerable to injury. Beyond major lesions, subtle and widespread microstructural alterations also contribute to later neurodevelopmental impairments. We aimed to characterize the impact of key clinical risk factors on global and tract-specific WM microstructure at term-equivalent age (TEA), using 3T-diffusion-MRI data of 111 infants born before 33 weeks of gestation. We developed a lesion-ro...

BackgroundHelmet use is a proven safety measure that reduces the risk of head injury among cyclists and e-scooter riders. Despite legal requirements for pedal bikes and e-bikes in Australia, compliance varies, particularly among users of electric vehicles. The growing popularity of e-bikes and e-scooters in urban areas presents new public health challenges, yet observational data on helmet use, behavioural determinants, and the effectiveness of safety interventions remain limited. AimPhase 3 of...

PurposeGenetic diseases often present and are first diagnosed in the neonatal intensive care unit (NICU). Accurate identification of neonates with genetic diagnoses (GDs) in electronic health records (EHR) would enable a more complete understanding of their phenotypic spectrum, advancing care and personalized medicine. Prior research has used International Classification of Diseases (ICD) billing codes as proxies for GDs, though their accuracy for detecting confirmed GDs is uncertain. We evaluat...

BackgroundRecurrent sore throat affects a small minority of adults but can cause substantial morbidity. Evidence to guide tonsillectomy eligibility in adults is limited, and current criteria are extrapolated from paediatric populations. We aimed to describe the epidemiology, management, and prognosis of adult sore throat in UK primary care. MethodsUsing CPRD Aurum (2010-2020 adults with a first coded episode of sore throat or tonsillitis were identified and matched to controls. Episode frequenc...