Archives of Disease in Childhood最新文献

Background: Achondroplasia (ACH), the most common skeletal dysplasia, arises from gain-of-function variants in the fibroblast growth factor receptor 3 gene. Children with ACH experience lifelong medical, functional and psychosocial challenges requiring coordinated and anticipatory care. Although international guidance exists, the UK lacks national clinical care recommendations specific to its healthcare systems.

Objective: To develop UK-specific, multidisciplinary clinical recommendations for the care of children and young people (CYP) with ACH.

Methods: The UK Achondroplasia Network developed guidance in stages: stakeholder mapping of the care pathway, integration of contemporary literature with clinical expertise to draft age-specific guidance and Delphi statements, and a modified Delphi process with 25 multidisciplinary experts. The Delphi process involved two voting rounds and an in-person meeting, with consensus defined as ≥80% agreement.

Results: In the first Delphi round, all 20 statements achieved consensus; nine achieved 100% agreement. To strengthen consensus, after meeting in person, 17 statements were refined (four were divided into two statements), one created and one removed, resulting in 24 statements for Round 2; all achieved consensus, with 21 reaching 100% agreement. The guidance outlines age-specific monitoring and referral from infancy to adolescence. Recommendations address medical management of complications, psychosocial support, educational planning and transfer to adult care.

Conclusion: These are the first UK-specific multidisciplinary recommendations for the care of CYP with ACH. Aligned with international best practices and tailored to UK healthcare systems, they support anticipatory care, promote independence and enhance health and psychosocial outcomes. The guidelines offer a foundation for service planning, standardisation and equitable care.

Objective: To describe the epidemiology of a large, national outbreak of pertussis in England in 2023-2024, and key control measures implemented.

Design: Analysis of data for 2023-24 from multiple public health surveillance systems.

Setting: England -national surveillance.

Patients: All age groups but focusing on children and young people up to age 14 years.

Interventions and main outcome measures: Laboratory-confirmed cases in the community, deaths and pertussis-related hospital admissions. National control measures implemented as part of outbreak response.

Results: 15 750 laboratory confirmed cases were reported in 2023-24, including 989 infants. Of 481 infants under 3 months, 12 died, of whom nine (75%) were born to mothers who were not vaccinated within the recommended timeframe in pregnancy. Incidence rates were highest among infants aged under 3 months. Most hospitalised pertussis cases were infants, but proportionately more hospitalisations in 2024 occurred in older age groups than expected based on earlier years. Whole genome sequencing indicated multiple lineages drove the increase. One isolate from 2023 and one from 2024 possessed 23s ribosomal RNA genotypes associated with macrolide resistance and this was confirmed phenotypically. Multiple control measures were implemented, including revisions to public health guidance and mobilisation work to promote childhood and prenatal vaccination uptake.

Conclusion: Following a period of very low incidence during the COVID-19 pandemic, there was a large and rapid rise in pertussis cases across all age groups and geographies in England in 2023-24. Continued, high-quality surveillance and characterisation of circulating pertussis strains will be crucial to understanding evolving disease epidemiology postpandemic.

Each year hundreds of randomised controlled trials are conducted in low- and middle-income countries addressing issues in clinical paediatrics and in child and adolescent health. The topics are as diverse as the problems facing children around the world in 2025. This year, 600 trial publications were included in an annual compilation. Many of these studies build on pre-existing evidence and may lead to change in practice or policy. The 600 publications come from all regions of the world.

Background: We performed a systematic review and meta-analysis to identify pre-diagnostic symptoms/signs for childhood abdominal tumours to inform ongoing efforts to achieve earlier diagnoses of childhood cancers.

Methods: Medline (OVID), Embase (OVID) and PubMed were searched for studies published between January 2005 and December 2023, including children (<18 years) diagnosed with abdominal tumours, with no language restrictions. Pooled proportions of symptoms/signs were calculated. Sub-analyses were performed according to tumour location and age.

Results: 133 eligible studies were identified, totalling 8611 cases. The most frequently reported symptoms/signs were abdominal mass (39.3% (31.5% to 47.5%)), pain (14.5 (10.9% to 18.5%), abdominal swelling/distension (7.2% (3.3% to 12.1%)), haematuria (7.2% (2.9% to 6.2%)), fever (3.9% (2.2% to 5.9%)) and/or hypertension (2.6% (1.4% to 4.2%)).For adrenal tumours, precocious puberty (20.6% (2.8% to 46.8%)), Cushing's syndrome (16.4% (5.9% to 30.1%)) and/or hypertension (12% (2.8% to 25.3%)) were reported.For liver tumours, abdominal mass (42.9% (0.0% to 100.0%)), abdomen mass and/or discomfort (16% (0.0% to 73.1%)), hepatomegaly (9.7% (0.0% to 60.7%)), abdominal swelling/distension (9.4% (0.0% to 64.0%)) and/or abdominal pain (7.7% (0.0% to 28.3%)) were reported.For renal tumours, abdominal mass (49.7% (39.0% to 60.5%)), abdominal pain (12.3% (8.5% to 16.6%)), haematuria (10% (7.4% to 13.0%)), abdominal swelling/distension (5.4% (1.5% to 11.2%)), hypertension (4.7% (2.5% to 7.5%)) and/or fever (3.5% (1.9% to 5.5%)) were reported.For neuroblastoma, abdominal mass (24% (7.0% to 46.4%), abdominal swelling/distension (9.2% (0.0% to 27.9%)), fever (7.4% (0.3% to 20.4%)), hepatomegaly (4.8% (0.0% to 19.8%)), anaemia/pallor (4.1% (0.0% to 13.3%)), abdominal pain (4% (0.0% to 13.4%)), screening/antenatal screening (3.4% (0.4% to 8.2%)) and/or opsoclonus-myoclonus-ataxia syndrome (2.7% (0.0% to 8.3%)) were reported.

Conclusions: The clinical presentation of childhood abdominal tumours varies according to location and tumour type. These variations in presentation should be used to guide interventions to facilitate earlier diagnosis, such as the UK's new Child Cancer Smart campaign.

Objective: Assess sociodemographic disparities in attention-deficit hyperactivity disorder (ADHD) diagnoses and determine whether England's universal assessment of 'school readiness' could provide a signal for ADHD-related educational needs.

Design: Population-based cohort study.

Setting: Bradford, UK.

Method: Education and health records were linked using the Connected Bradford database for individuals who completed their first year of compulsory schooling (age 4-5 years) between the 2006/2007 and 2018/2019 academic years (n=1 25 330). School readiness was indexed by the 'good level of development' threshold within the Early Years Foundation Stage Profile. Primary healthcare records were used to identify individuals with clinical codes recorded that indicate ADHD diagnosis. Regression analyses allowed controlling for covariates, including sex, ethnicity, free school meals receipt and local area deprivation.

Results: Male and White British heritage individuals were more likely to have received a diagnosis for ADHD than females and those of South Asian heritage or other ethnicities, with the lowest diagnosis rates among South Asian girls. Those who attained a 'good level of development' were also less likely to have received a diagnosis for ADHD (attained: 1.0%; not attained: 2.6%, OR=0.40, 95% CI (0.35, 0.45)), even after controlling for covariates (OR=0.42, 95% CI (0.37, 0.48)).

Conclusions: There are structural inequalities in ADHD diagnosis, particularly across sex and ethnicity. Universal school readiness assessments, such as the Early Years Foundation Stage Profile used in England, could act as a signal of ADHD-related educational needs and aid more equitable pathways for ADHD identification and support.