BMJ Paediatrics Open

Leisure activities during childhood are vital to quality of life and wellbeing, however parents report poor quality of life and infrequent leisure participation for children with complex disabilities. Sparkle, a charity in South Wales, delivers specialist leisure activities aimed at providing children with disabilities with access to the same opportunities as any other child. We explored the impact of this provision on psychosocial domains of quality of life for children with complex disabilities. Multi-source qualitative case studies including interviews and observations were conducted with: four children/young people - aged 8-15 years with diagnoses including autism, Downs syndrome and cerebral palsy - accessing Sparkles leisure activities; their parents/carers and leisure staff supporting them. Data were analysed using coding reliability thematic analysis. Three themes were generated: self-development, friendship and social interaction, and self and family wellbeing. An overarching theme of the need for a specialist provision enabled the other themes linked to positive outcomes for the children. We concluded that a specialist provision contributes to positive psychosocial outcomes linked to leisure participation for children with complex disabilities. Limitations, future research and implications for policy and practice are discussed.

PurposeRecent guidance has resulted in an increased level of interest in the wellbeing of children and young people, including those with complex needs. Evaluation of quality of life in this population is notoriously difficult, but has become increasingly vital when assessing the value of a service. MethodsA previously validated tool, Quality of life Inventory-Disability (QI-Disability), was used in conjunction with parental reports on quality-of-life measures for children and young people before and after 6 and 12 months of attending specialist leisure activities provided by a charity (Sparkle) at childrens centres in South Wales. ResultsQI-Disability scores improved overall after 6 and 12 months of attending Sparkle club activities. However, the only statistically significant improvement was in the QI-Disability positive emotions domain. Parental reports also confirmed that children and young people were making progress towards their personal goals. ConclusionCollecting evaluation data within real-world services is challenging but essential. This paper uses quality-of-life measures to demonstrate how leisure activities provided by Sparkle improve scores for children with disabilities, including evidence of the perceived value for children, young people and parents. Plain English summaryThere is little previous research evaluating specialist leisure activities provided for children and young people with disabilities within real-world services. This evaluation aimed to find out if specialist leisure activities improved wellbeing scores for children with complex needs. We used parent-report questionnaires to measure changes to childrens quality of life whilst accessing these leisure activities. We found there is a benefit to children and young people with complex needs and their families when they participate in specialist leisure activities, and children experienced more positive emotions after accessing for 6 months.

Studies of quality of life (QoL) routinely exclude children with complex needs. These children struggle to access leisure activities, particularly those with severe communication needs or challenging behaviour. Sparkle provides specialised leisure services to children and young people (0-17 years) with complex needs in South Wales, UK. We aimed to evaluate previously validated tools to measure QoL with this population. Three tools were assessed over a 6-year period - PedsQL, KINDLR and QI-Disability. PedsQL (41) and KINDLR (10) were attempted by the children attending the clubs (5-17 years old), and QI-Disability by caregivers (96). The majority of child participants had a neurodevelopmental diagnosis, a proportion of whom were non-verbal. Neither KINDLR nor PedsQL were appropriate for the population, with children unable to understand the questions and answers. The QI-Disability scores showed a statistically significant improvement in parents estimate of their childs positive emotions, but results were severely limited by drop off. Existing validated QoL tools cannot be meaningfully used by children with complex needs. While the caregiver tool showed some benefit of specialist leisure provision, it is recognised that caregivers may perceive a childs QoL differently to the child themselves, and caregivers clearly found repeat measurements onerous.

Using data from 4678 children participating in VirusWatch, a household cohort study, we estimated the prevalence of persistent symptoms lasting [≥]4 weeks as 1.7%, and 4.6% in children with a history of SARS-CoV-2 infection. Persistent symptom prevalence was higher in girls, teenagers and children with long-term conditions.

BackgroundLong COVID remains incompletely understood in children and adolescents with scant Australian data available. We aimed to assess the impacts of the 2021 Delta variant of SARS-CoV-2 outbreak on symptoms and functioning 12 weeks post-acute infection in a cohort of children and adolescents. MethodsThe parents (or next of kin) of 11864 children and adolescents from a population catchment who had mandatory contact with Sydney Childrens Hospital Network facilities during acute SARS-CoV-2 infection (confirmed by PCR) were contacted by email or text message. Findings1731 (17.7%) responded to an online survey assessing symptoms, functional impairment. 203 of the responders (11.7%) gave answers that were consistent with continued symptoms and/or functional impairment and were flagged for clinical review. Of the 169 subsequently clinically reviewed, many had already recovered (n=63, 37.3%) or had a pre-existing condition exacerbated by COVID-19 (18, 10.7%); 64 (37.9%) were diagnosed with a Post COVID Condition (PCC). Of these, a minority we considered to have features compatible with the United Kingdom consensus cases definition for Long COVID (n=21). InterpretationDuring an outbreak of the Delta variant of SARS-CoV-2 an online questionnaire with clinical review follow-up provided evidence that a majority of children with COVID-19 had complete recovery at 12 weeks post infection, but those with persisting symptoms demonstrated a wide spectrum of severity and phenotype that comprises a likely significant burden that warrants attention for individuals and at a population level. FundingNew South Wales Health COVID-19 Emergency Response Priority Research Funding.

ObjectiveTo evaluate whether a successful camp experience can be achieved with implementation of COVID-19 education, screening and hygiene protocols, and designated cohorts during the summer of 2020. Study DesignA survey study of summer day camp directors in the metro-New York area was conducted in September, 2020. The survey inquired about camper demographics, COVID-10 related policies, and the number of COVID-19 cases and exposures at each camp. ResultsResponses were received from 77% (23/30) of camp directors at the completion of the 2020 summer. There were 8,480 camper children and 3,698 staff across the 23 camps surveyed. A variety of precautions were taken to limit COVID-19 incidence among campers and staff, most often including COVID-19 screening at entry, cohorting campers, maximizing outdoor activities, mandating mask use when indoors, and frequent hand sanitizing. Six staff and one camper tested positive for COVID-19. There was no secondary spread within the staff or campers in any of the camps. ConclusionCamps successfully stayed open in the summer of 2020. The low level of COVID-19 in the community was critical to the initial success of camp opening. Policies that were consistent and maintained among the camps helped prevent further spread.

BackgroundWilson disease (WD) is a rare but commonly under-diagnosed inherited metabolic disease. Patients who are diagnosed early before disease onset (pre-symptomatic WD) have a good response to treatment. For universal screening in children, spot urine tests are more feasible than 24-hour urine collection. We previously established reference ranges for spot urine copper excretion indices. Here, we evaluated their screening performance in a prospective cohort of school children. MethodsTwo samples of spot urine and one 24-hour urine were collected from 193 healthy Hong Kong children aged 4-11 years. Urine copper was measured by Inductively coupled plasma mass spectrometry (ICP-MS). Previously established screening cut-off values were evaluated: spot urine copper [&ge;]0.5 {micro}mol/L, copper to osmolality ratio [&ge;]0.00085 mol/mOsm, and copper to creatinine ratio [&ge;]0.1 {micro}mol/mmol together with a new step cut-off according to urine osmolality. Children whose urine sample exceeded any one cut-off value were called back for blood ceruloplasmin and copper as second-tier tests together with diagnostic sequencing of the ATP7B gene. Results10 children (5%) had second-tier testing. Two children had very low ceruloplasmin levels and were genetically confirmed to have WD. Both were completely asymptomatic at diagnosis. Spot urine copper concentration [&ge;]0.5 {micro}mol/L showed the best screening performance with excellent sensitivity. The strong correlation between spot urine copper concentration and 24-hour urine copper excretion (R{superscript 2}=0.83, p<0.01) provided the basis for screening WD by spot urine copper. In addition, one carrier was found among the call-back group who had normal plasma ceruloplasmin. ConclusionsIn this small prospective screening cohort, 2 WD patients and 1 carrier were diagnosed. Spot urine copper is a useful biomarker for universal WD screening in school children, which may improve disease outcome and fundamentally change the natural history of WD by enabling early detection and therapy before symptom onset.

BackgroundThe comparative efficacy and safety of intravenous rehydration (IVR) and oral rehydration (OR) strategies in children with severe acute malnutrition (SAM) remains uncertain. MethodsWe systematically reviewed randomized clinical trials (RCTs) comparing the use of IVR and oral rehydration (standard of care) in children with SAM hospitalized with severe dehydration secondary to gastroenteritis. The primary outcome was in-hospital mortality. Secondary outcomes included fluid overload events, development of shock requiring intravenous boluses, development of neurological complications; severe electrolyte abnormalities at 24 hours and day 28 mortality. FindingsWe identified 3 RCTs, comprising 484 participants with severe malnutrition including 72 children with the kwashiorkor phenotype: (2 some risk of bias; 1 low risk of bias). The risk ratio (RR) for in-hospital mortality with IVR versus OR was 0.71 (95% confidence interval [CI], 0.46-1.10; I2=0.0%) with moderate certainty of evidence. No fluid overload events were reported, pooled RR 0.99 (95% CI 0.10-9.35). Pooled RR of severe hyponatremia at 24 hours (grouped by threshold (sodium < 125 or <130mmol/L)) was 0.66 (95% CI 0.44-0.99). Only one trial reported RR for shock development; hypernatremia (sodium >145mmol/l) and 28-day mortality with IVR versus OR RRs of 0.56 (95% CI 0.21-1.48); 2.05 (95% CI 0.50-8.58) and 0.85 (95% CI 0.44-1.65) respectively. Subgroup analyses for in-hospital mortality were carried out for region and risk of bias rating giving p=0.85 and p=0.54 for heterogeneity respectively. ConclusionThe estimated effect of using IVR versus OR in children with SAM with severe dehydration ranges from a 54% relative reduction to a 10% relative increase in the risk of death with IVR resulting in fewer adverse events. (PROSPERO number, CRD42025637956.) Key QuestionsO_ST_ABSWhat is already known on this topicC_ST_ABSInternational guidelines advise against giving intravenous rehydration to children with severe acute malnutrition due to concerns about fluid overload. Evidence to support this recommendation is weak, specifically in children in African with severe dehydration due to diarrhoea What this study addsWe systematically reviewed evidence comprising of 484 children in 3 randomised trials, and estimated that intravenous rehydration resulted in a 54% relative reduction to a 10% relative increase in the risk of death No evidence of fluid overload or cardiac failure was reported in any trial How might this study affect research, practice or policyThe guidance on intravenous rehydration should be reconsidered in light of the findings of this review and considering the safety of intravenous rehydration Simplification of the rehydration guidelines for severe dehydration to remove the distinction between malnourished and non-malnourished children would facilitate ease of implementation.

ObjectivesThe objective of this study was to look at whether there is a correlation between urease activity in babies faeces and observed incidence of nappy rash (diaper dermatitis) in a six-infant longitudinal observational study conducted at a university childcare facility over 9 months. MethodsSix babies who met the inclusion criteria and who attended Westwood Nursery, University of Bath were recruited to the study with consent provided by parents following favourable ethical committee opinion from the NHS Regional Ethics Committee. Soiled nappies donated up to twice weekly were analysed for the urease activity in faecal bacteria. At the same time, Nursery staff recorded the skin condition of the nappy area of participating infants. ResultsA clear statistical correlation between urease expression and observed nappy rash incidence and absence of faecal urease and healthy skin was observed using Chi squared analysis (P = <0.0001). ConclusionsUrease expressing bacteria were first implicated in the pathogenesis of nappy rash in the early 20th century. This is the first study to show a population level correlation between nappy rash and faecal enzyme activity, which can be understood in terms of a causal chain: urease catalyses ammonia production, which directly damages skin barrier function and creates a pH environment in which secondary opportunistic micro-organisms can grow at an enhanced rate and increase skin damaging enzyme activity, therefore leading to more severe nappy rash. Key messagesO_ST_ABSWhat is already knownC_ST_ABSthe involvement of urease /ammonia expressing bacteria in the pathogenesis of nappy rash has been suggested for over 100 years. What this study addsThis study shows a clear temporal correlation between faecal urease expression and nappy rash incidence (and vice versa) in a group of six infants followed over 8 months suggesting the key importance of urease in nappy rash pathogenesis in a relevant study population and adds to a previous causal mechanism, where urease converts urea to ammonia, which has been shown to both directly damage skin barrier function and raise skin pH. How this study might affect research, practice or policyThis study raises the possibility that nappy rash can be treated more effectively by direct inhibition of urease. Several urease inhibiting strategies are currently being studied, including watercress extract and probiotic bacteria.

Infantile colic, characterized by severe abdominal pain and excessive crying, significantly impacts both infants and their parents. This study examined maternal awareness, knowledge, and attitudes towards colic, with a focus on socio-demographic factors. Conducted over eight months with a sample of 400 infants in Karachi, the research employed structured questionnaires and clinical evaluations. Statistical analysis revealed significant variations in colic occurrence based on age (p < 0.001), maternal age (p = 0.005), and educational background (p = 0.001). Gender differences in digestive issues (p = 0.02) and responses to crying based on gestational age were also notable. Additionally, educational status significantly affected perceptions of colic severity (p = 0.000) and its impact on parental mental health (p = 0.03). These findings highlight the necessity for tailored healthcare strategies that consider familial contexts and educational interventions to enhance understanding and management of infantile colic. Future research should explore the influence of gut microbiota and probiotics, aiming to develop empathetic and evidence-based approaches to improve outcomes for affected families. ObjectiveThis study aimed to provide updated insights into the epidemiology of infantile colic in Karachi, contributing to targeted healthcare interventions and policies aimed at alleviating colic-related distress among infants and their families in urban settings

A long-acting monoclonal antibody against Respiratory Syncytial Virus (RSV), given as a one-off injection shortly after birth, is likely to be introduced soon. We hypothesised that carer acceptance of intra-muscular (IM) vitamin K, another injection given shortly after birth, might serve as a proxy indicator of likely acceptance of any such anti-RSV intervention, given previous associations described between IM vitamin K acceptance and subsequent non-immunisation. Using a national dataset of all postnatal health visitor visits in Scotland from 2018-2021 we explored demographic variables associated with non-acceptance of IM vitamin after birth. We found that in the time period 2019-2021 over 95.5% of carers were documented as consenting to this intervention, with only 1.1% requesting oral vitamin K and 0.9% refusing vitamin K altogether. Infant ethnicity, use of English as a first language at home, socio-economic position and maternal age were not associated with reduced uptake of IM vitamin K. We therefore did not identify any groups that might require increased engagement prior to the roll-out of a long-acting monoclonal antibody for RSV.

BackgroundThe epidemiological transition and medical innovations have led to changes in causes of ill-health and disability by children and young people (CYP) in many wealthy countries over the past two decades. However this has not been systematically examined at a national level in the UK. Here we examined changes in disability-adjusted life-years (DALYs) by cause for 0-24 year olds by age-group. MethodsWe used data on DALYS by cause, sex and age-group for the UK from 1998 to 2017 from the 2017 Global Burden of Disease (GBD) study. We modified the GBD cause-hierarchy to be more relevant to paediatrics. We assessed current causes of burden in 2017 and change at cause-level for 1998-2007 and 2008-2017 by age. We then used Holt-Winters doubly exponentiated time-series models to forecast change in DALYs by age to 2040. ResultsIn 2017, neonatal and congenital disorders were the main causes of DALYS across 0-24 year olds, with other the other large causes being anxiety and depression, endocrine and immune disorders, and lower respiratory tract infections. Total DALYS were highest amongst neonates and lowest amongst 1-9 year olds, rising with age amongst 10-24 year olds. Between 1998-2017, total DALYs fell in each age-group, with the largest falls in infants. The greatest changes in DALYS from 2008 to 2017 were falls in neonatal and congenital causes amongst infants, falls in infectious diseases and injuries in older age-groups, and rises in neonatal causes, mental health, acne and somatic symptoms in all age-groups other than infants. These patterns were forecast to continue to 2040. ConclusionsWe forecast falls in causes that have historically dominated disease in CYP, particularly congenital disorders, infectious diseases, cancers and injuries, representing falls in the prevalence of many infectious diseases and improvements in road safety and also improvements in survival from cancer and many congenital conditions. Forecast increases in DALYS from mental health problems, other adolescent health issues and the consequences of neonatal survival, such as neuro-disability and epilepsy, have potential implications for the training of paediatricians and workforce needs over the next two decades. The impact of the COVID-19 pandemic, climate change and changes in child poverty require further research.

Importance: Preschool children in care are at high risk for psychosocial health concerns. Population-based evidence is limited. Objective: Estimate prevalence of psychosocial health concerns in children in care and not in care, and assess care-status differences stratified by deprivation. Design: Population-based cross-sectional study using 27-30 Month Health Review data from April 2013 to March 2023. Setting: Universal health review program in Scotland. Participants: 7887 children in care and 445 547 children not in care. Exposures: Care status at review, classified as in care or not. Main Outcomes and Measures: Four outcome categories (emotional, behavioral, and/or attentional; personal and/or social; speech, language, and/or communication; and other developmental concerns) plus an aggregate indicator of any of the four. We estimated adjusted odds ratios between children in care and not in care, including variation with deprivation. Models adjusted for sex, age, ethnicity, and deprivation. Results: Psychosocial health concerns were more common in children in care (2290; 29.0%) than children not in care (77 836; 17.5%; relative risk 1.66). Concerns were more common in children in care across all outcomes. The adjusted odds ratio comparing children in care with children not in care for any recorded concern was 1.86 (95% CI, 1.77-1.96). Adjusted odds ratios varied by outcome from 1.57 (95% CI, 1.49-1.66) for speech, language, and/or communication concerns to 2.49 (95% CI, 2.34-2.66) for emotional, behavioral, and/or attentional concerns. Relative inequities between children in care and not in care decreased with increasing deprivation from aOR of 1.58 (95% CI, 1.45-1.72) in the most deprived fifth of areas to 2.61 (95% CI, 2.25-3.03) in the least deprived fifth. Prevalence of any recorded concern increased with deprivation in both care groups. The relative risk comparing the most deprived with least deprived fifth of areas was 1.46 (95% CI, 1.29-1.66) among children in care and higher at 2.34 (95% CI, 2.29-2.40) among children not in care. Conclusions and Relevance: Psychosocial health inequities are evident at an early age between children in care and not in care, and vary with deprivation. Support for children in care and children living in more deprived areas should be prioritized.

ObjectiveTo explore hypoxic ischaemic encephalopathy (HIE) families experiences of care in the NHS and the impact of HIE on families. DesignGeographically maximum variation sampled semi-structured interviews (n=28) were conducted with parents of infants (born 2010-2024) who underwent therapeutic hypothermia for HIE. Data were analysed with reflexive thematic analysis. SettingParents were recruited from across the United Kingdom (UK), covering 84% (11/12) of the UKs regional neonatal networks, known as Operational Delivery Networks. FindingsThree themes with eight sub-themes were generated from the interview data. 1) The life-changing diagnosis of HIE: Parents described loss of stability & opportunity to parent, ongoing mental turmoil, and how the diagnosis led to transformation. 2) Balancing hope with facts: Parents unpacked how treasured their child is, the tension between hope and loss they experienced and feelings of being kept in the dark. 3) Struggling to meet their childs needs: Parents outlined deficiencies in care infrastructure, and battling disability-based discrimination. ConclusionsThis study highlights the profound and life-changing impact of HIE on families. Parents described cherishing their children and experiencing personal growth. However, many also characterised how challenges were intensified by disability-based discrimination, poor communication and gaps in support across health, education, and social care systems. To prevent further trauma and support family wellbeing, this work identifies priority improvement areas. Embedding trauma-informed care, strengthening transparent and sensitive communication around prognostic uncertainty, and improving care co-ordination will help families feel seen, heard, and supported throughout their journey. SUMMARYO_ST_ABSWhat is already known on this topicC_ST_ABS- Single centre studies demonstrate receiving a HIE diagnosis and having a baby undergo therapeutic hypothermia treatment is traumatic for families. - Little is known about the experiences of families affected by HIE in the NHS, particularly after neonatal discharge. What this study adds- This UK-wide study demonstrates the profound and life changing impact of HIE on families. - Parents cherish their children and may experience personal growth after HIE; however, family well-being can be undermined by disability-based discrimination, poor communication and inadequately resourced health, education and social care. How this study might affect research, practice or policy- These findings support embedding trauma-informed care, encouraging transparent yet sensitive communication around diagnosis and prognosis, and improving care co-ordination to help families.

UK Lockdown measures introduced in March 2020 aimed to mitigate the spread of Covid-19. Although seeking healthcare was still permitted within restrictions, paediatric emergency department attendances reduced dramatically and led to concern over risks caused by delayed presentation. Our aim was to gain insight into healthcare decisions faced by parents during the first wave of the Covid-19 pandemic and to understand if use of urgent healthcare, self-care, and information needs differed during lockdown as well as how parents perceived risks of Covid-19. We undertook qualitative telephone interviews with a purposive sample of parents living in the North East of England recruited through online advertising. We used a semi-structured topic guide to explore past and current healthcare use, perceptions of risk and the impact of the pandemic on healthcare decisions. Interviews were transcribed and analysed using Thematic Analysis. Three major themes were identified which concerned (i) how parents made sense of risks posed to, and by their children, (ii) understanding information regarding health services and (iii) attempting to make the right decision. These themes contribute to the understanding of the initial impact of Covid-19 and associated restrictions on parental decisions about urgent healthcare for children. These findings are important to consider when planning for potential future public health emergencies but also in the wider context of encouraging appropriate use of urgent healthcare.

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 socially disadvantaged, ethnically diverse urban areas in the United Kingdom. Outcome measures were collected pre-intervention, post-intervention and at three-month follow-up to explore caregiver wellbeing, empowerment, activation, and quality of life. Semi-structured qualitative interviews were conducted within three months of programme completion. Interview data were analysed using deductive coding informed by the "Encompass" programme theory alongside inductive analysis to explore mechanisms and unanticipated benefits. Results and conclusionsSeven participating caregivers described improved wellbeing, increased confidence in caring for their child, navigating services, advocating for their family and engaging in the community. Peer support, shared learning and expert parent facilitation were key identified mechanisms of impact. Data from outcome measures showed patterns of improvement post-intervention, with less consistent eYects at follow-up. Findings confirmed the key change mechanisms, informing future iterations and other caregiver group programmes. Trial RegistrationClinicalTrials.gov Identifier: NCT06310681

BackgroundAssessment of newborn screening using whole genome sequencing (WGS) presents considerable challenges for policy advisors, not least given the logistics of simultaneously evaluating the evidence for 200 rare genetic conditions. The genotype first approach has the potential for harms, and benefits are uncertain. ObjectiveTo assess different approaches to evaluating WGS for newborn screening to inform the development of a robust method for informing policy decisions. MethodsWe undertook traditional reviews of five conditions using standard systematic review methods (considering gene penetrance, expressivity, and prevalence, the accuracy and effectiveness of WGS, and effect of earlier treatment) (search inception to November 2023), evaluated the NIH Clinical Genome Resource (ClinGen) for evidence on the five conditions, reviewed genomic studies of paediatric screening cohorts reporting penetrance for pathogenic variants (search inception to February 2024) and undertook a methodological review of economic evaluations of WGS/ whole exome sequencing (WES) (search inception to January 2024). We explored public views on evaluating WGS. Data sourcesMEDLINE (Ovid), Embase (Ovid), Web of Science, Science Citation Index (via Clarivate), the Cochrane Library (via Wiley), CEA registry and Econlit. Actionability reports and scores were downloaded from the ClinGen website on 30th April 2024. ResultsThe traditional review approach identified 221 studies that either reported on the genetic spectrum of individuals with the five conditions or provided limited evidence about the benefits of earlier treatment. No evidence about penetrance and expressivity or the accuracy or effectiveness of WGS in newborns was identified. ClinGen reviews were available for four of the five conditions. The ClinGen actionability ratings for all four conditions disagreed with the findings of our traditional reviews. Our review of 14 genomic studies of newborn screening cohorts found insufficient information to allow individual highly penetrant pathogenic variants for any condition to be identified for consideration in a screening programme. None of the 86 economic evaluations of WGS or WES were set in a screening context. Some micro-costing studies are available that could help understand the resource use and costs associated with WGS. Following a series of PPI meetings, attendees appreciated the uncertainties of WGS and suggested that a wider stakeholder perspective was needed to inform policy decisions. LimitationsAlthough we only examined five conditions in depth, the consistency in lack of data suggests our conclusions are robust. ConclusionsThe traditional systematic review approach for evaluating WGS of newborns identified a paucity of high-quality evidence. Extending the review to all 200 conditions is not feasible and is unlikely to yield the level of evidence required by policy advisors. The use of existing genome resources and review of genomic studies of newborn screening cohorts were not found to be viable alternatives. The cost-effectiveness of WGS in a newborn screening context is unknown. Future workLarge-scale collaborative research is required to evaluate the short- and long-term harms, benefits and economic implications of WGS for screening newborns. We propose a staged approach to evaluation considering only conditions with pathogenic variants with very high penetrance to minimise harm from overdiagnosis. Study registrationThe protocol for this study is registered on PROSPERO: CRD42023475529 Funding detailsThis study/project is funded by the NIHR Evidence Synthesis Programme (ESG_HTA_NIHR159928). The views expressed are those of the author(s) and not necessarily those of the NIHR or the Department of Health and Social Care.

BackgroundModified Free Water Protocols (MFWPs) are increasingly referenced in UK paediatric dysphagia practice despite no published paediatric evidence of safety or efficacy. AimsTo examine how, for whom, and why MFWPs are used or discussed by UK Speech and Language Therapists (SLTs), whether clinicians can reference any supporting evidence, and how outcomes are monitored. MethodsCross-sectional online survey of UK paediatric dysphagia SLTs with Likert-scale, yes/no, and open-ended items; data analysed descriptively and thematically. ResultsSixty-eight clinicians responded; 64 % (44/68) reported using an MFWP, yet only 12 % (8/68) had local written guidance. Most adaptations derived from adult FWPs, most often the Frazier protocol. No respondent cited paediatric evidence or justification for "cooled-boiled/sterile" water. MFWPs were applied to children with thin-fluid aspiration, refusal of thickeners, chronic respiratory disease, and severe neurological impairment; groups that would not meet adult FWP candidacy. Outcome monitoring centred on respiratory health but without details of how or when monitoring occurred; hydration and functional indices were rarely reported. ConclusionsUK clinicians are applying heterogeneous, unvalidated adaptations of adult FWPs to children. The use of "cooled-boiled/ "sterile" water is unsupported and distracts from evidence-based safeguards such as oral care and supervision. National guidance and paediatric outcome evidence are urgently required.

BackgroundThere is evolving evidence of significant differences in severity and outcomes of coronavirus disease 2019 (COVID-19) in children compared to adults. Underlying medical conditions associated with increased risk of severe disease are based on adult data, but have been applied across all ages resulting in large numbers of families undertaking social shielding (vulnerable group). We conducted a retrospective analysis of children with suspected COVID-19 at a Specialist Childrens Hospital to determine outcomes based on COVID-19 testing status and underlying health vulnerabilities. MethodsRoutine clinical data were extracted retrospectively from the Institutions Electronic Health Record system and Digital Research Environment for patients with suspected and confirmed COVID-19 diagnoses. Data were compared between Sars-CoV-2 positive and negative patients (CoVPos / CoVNeg respectively), and in relation to presence of underlying health vulnerabilities based on Public Health England guidance. FindingsBetween 1st March and 15th May 2020, 166 children (<18 years of age) presented to a specialist childrens hospital with clinical features of possible COVID-19 infection. 65 patients (39.2%) tested positive for SARS-CoV-2 virus. CoVPos patients were older (median 9 [0.9 - 14] years vs median 1 [0.1 - 5.7.5] years respectively, p<0.001). There was a significantly reduced proportion of vulnerable cases (47.7% vs 72.3%, p=0.002), but no difference in proportion of vulnerable patients requiring ventilation (61% vs 64.3%, p = 0.84) between CoVPos and CoVNeg groups. However, a significantly lower proportion of CoVPos patients required mechanical ventilation support compared to CoVNeg patients (27.7 vs 57.4%, p<0.001). Mortality was not significantly different between CoVPos and CoVNeg groups (1.5 vs 4% respectively, p=0.67) although there were no direct COVID-19 related deaths in this highly preselected paediatric population. InterpretationCOVID-19 infection may be associated with severe disease in childhood presenting to a specialist hospital, but does not appear significantly different in severity to other causes of similar clinical presentations. In children presenting with pre-existing COVID-19 vulnerable medical conditions at a specialist centre, there does not appear to be significantly increased risk of either contracting COVID-19 or severe complications, apart from those undergoing chemotherapy, who are over-represented.

Dysglycemia is a critical metabolic disturbance associated with mortality in acutely ill children, yet its burden may be underrecognized in low-income settings due to reliance on single point-of-care measurements. Using continuous glucose monitoring (CGM), we aimed to characterize glucose patterns in acutely ill children of different anthropometric status. MethodsChildren aged 2-23 months admitted with acute illness were prospectively recruited from two hospitals in Bangladesh and Malawi. Clinical data were collected, and interstitial glucose was monitored for 48 hours using the Dexcom G4 Platinum system. Glucose excursions and variability were analyzed and associated with anthropometric status. ResultsOf 93 enrolled children, 88 had sufficient CGM data: 21 not wasted (NW), 22 moderately wasted (MW), and 45 with severe malnutrition (SAM; 29 severe wasting [SW], 16 edematous malnutrition [EM]). Low-glucose excursions were detected in 8 (38%) children with NW, 11 (50%) with MW, 12 (41%) with SW, and 10 (63%) with EM. While not confirmed hypoglycemia, these low-glucose excursions were longer and more frequently below severe thresholds in children with EM. Hyperglycemic excursions occurred in 31% of children and were longer in children with SAM compared to NW (median 41 vs. 23 min, p<0.0001). Overall, 35% of children maintained euglycemic profiles, while others exhibited marked glucose variability. ConclusionCGM revealed frequent glucose instability among acutely ill children, with patterns varying across anthropometric groups. When interpreted cautiously, CGM may serve as a research tool to detect dysglycemia and assess response to therapeutic or nutritional interventions in critically ill children in low-resource settings.