European Journal of Pediatrics最新文献

Inherited cardiac conditions (ICCs) are an umbrella group of genetic disorders affecting the heart. They are life-long conditions that are often diagnosed through family screening or after cardiac events. For many years, it has been customary practice to restrict physical activity (PA) in children to prevent ventricular arrhythmia or sudden cardiac death. This scoping review aims to identify and analyse the current literature on the impact that having a diagnosis of an ICC has on a young person's PA and quality of life (QoL). This scoping review follows the methods of Arksey and O'Malley. Studies concerned with QoL and PA published between 1957 and 2025 were included. Literature searches were conducted across the following databases: Medline (Ovid), Scopus, Web of Science, Embase (Ovid) CINAHL, and PsycINFO. The data was extracted and charted focussing on aims, study populations, measures, and results. Data was then summarised with a descriptive summary as well as visual mapping and descriptive statistics. The review was conducted using the Preferred Reporting Items for Scoping Reviews guidelines. From a total of 1358 identified articles, 27 articles were included in the final review. There were twenty quantitative articles, three mixed method, and four qualitative studies included. Reduced QoL and mental health issues were common in this cohort. Children with ICCs had lower reported and measured PA in comparison to healthy peers. Lower PA was associated with reduced QOL amongst patients with ICCs. Themes identified in qualitative studies included activity restriction, fear of cardiac events, a need for improved communication by healthcare professionals, re-orientation, and coping.

Conclusion:  Children and young people with ICCs appear to have poorer QoL and engage in less PA than healthy peers. Empowering them to safely engage in PA should be a priority for healthcare providers. Consistent outcome measure across future studies would improve wider applicability of the findings.

What is known: • Children and young people with inherited cardiac conditions are subject to physical activity restrictions. • Being affected by an inherited cardiac condition is associated with poorer heatlth related quality of life.

What is new: • Children and young people have lower reported and measured PA in comparison to healthy peers (in excess of that advised by restrictions). • Lower Physical Activity is associted with reduced Quality of life amongst young people with ICCS.

Acute kidney injury (AKI) in preterm neonates is a serious pathology linked to the neonatal mortality rate. Since there is no comprehensive systematic review and meta-analysis in this regard, this study aimed to investigate the global prevalence of AKI in preterm neonates. A comprehensive literature search was conducted using MeSH-based keywords across multiple databases (by August 22, 2025). Eligibility criteria were considered via the PRISMA guideline, and quality assessment was applied using the STROBE checklist. Following data extraction, meta-analysis was applied using CMA (v.3) software. Heterogeneity was assessed using the I² test, publication bias was evaluated via the Egger test and funnel plots, and subgrouping and sensitivity analyses were considered to ensure result robustness. Data were presented as 95% CI, and p < 0.05 was considered a significant level. Following the assessment of 1032 records, 26 eligible investigations with a total number of 1,328,711 preterm neonates admitted to NICU were selected. 21,568 cases were diagnosed with AKI; thus, the global prevalence of AKI in preterm neonates admitted to NICU was 17.8% (95% CI: 8.6%-33.2%, I² = 99.8%, p < 0.001). Subgroup analyses demonstrated regional variations in prevalence, including 18.3% in Africa, 18.5% in America, 15.2% in Asia, and 20.1% in Europe. Meta-regression found no significant temporal trend in AKI prevalence over the study years.

Conclusion:  According to the findings, it is essential to monitor the renal health status in preterm infants admitted to the NICU. Failure to undergo preterm screening can lead to long-term kidney issues in adulthood.

What is known: • AKI is a major complication among preterm neonates and contributes to neonatal morbidity and mortality. • Diagnosis of AKI in neonates is challenging due to varying definitions and inconsistent use of biomarkers.

What is new: • This study included over 1.3 million preterm neonates, establishing a pooled AKI prevalence of 17.8%. • Africa (15.2%) and Europe (20.1%) comprise the lowest and the highest rates of AKI, respectively.

The overrepresentation of small-for-gestational-age (SGA) preterm infants among those with bronchopulmonary dysplasia (BPD) poses a challenge in quantifying the extent to which SGA independently affects respiratory outcomes. This two-center study aims to evaluate whether SGA status at birth is associated with reduced oxygen saturation (SpO₂) to fraction inspired oxygen (FiO₂) ratio (SFR) at 36 weeks (W) in preterm infants, independent of BPD. We retrospectively reviewed clinical data of preterm infants born between 24^+0/7 and 30^+6/7W of gestational age (GA). SGA was defined as a birth weight < 10th percentile according to Italian charts. BPD was diagnosed based on physiological definition. The primary outcome was the lowest quartile (Q1) of SFR at 36W. The association of SGA with Q1-SFR at 36W was evaluated using multiple regressions. Among 1,380 eligible infants, the incidences of SGA and BPD were 19.4% and 19.5%, respectively. SGA incidence was higher in infants with BPD than noBPD (30.1% vs 16.8%, p < 0.001). Among the 1,243 infants alive at 36W, 1,116 (89.8%) had available SFR data. After adjustment for BPD, GA, sex, Apgar score, brain injury, postnatal corticosteroids, and study center, SGA was significantly associated with 3.6-fold increased risk of Q1-SFR at 36W. In infants without BPD, SGA remained associated with an increased risk of Q1-SFR at 36W (aOR: 4.298, p < 0.001).

Conclusions:  In preterm infants (GA 24^+0/7-30^+6/7W), SGA status at birth is associated with reduced SFR at 36W postmenstrual age, independent of BPD. Coordinated optimization of prenatal and neonatal care remains crucial to mitigate respiratory impairment in this high-risk population.

What is known: • Bronchopulmonary dysplasia (BPD) is one of the most relevant respiratory complications in preterm infants. • Small-for-gestational-age (SGA) preterm infants are at higher risk of BPD.

What is new: • In a large two-center cohort of very preterm infants (24+0/7-30+6/7 weeks) without BPD, SGA at birth was independently associated with reduced oxygen saturation to fraction inspired oxygen ratio (SFR) at 36 weeks. • SGA should be considered an independent risk factor when assessing respiratory outcomes in preterm infants.

Purpose: To describe the sociodemographic and epidemiological characteristics and healthcare utilization patterns-primary healthcare (PHC) use, emergency department (ED) visits, and hospital admissions-of children under 5 years of age born in Portugal between July 1, 2010, and June 30, 2021, and diagnosed with TB during the same period.

Methods: This is a quantitative, observational cohort study of 58 children diagnosed with TB and reported to the National Epidemiological Surveillance System (SINAVE) before age 5. Data were obtained through linkage of five population-based databases. Descriptive statistics and bivariate analyses were conducted. Incidence rates of PHC, ED visits, and hospital admissions were calculated per 1000 person-days.

Results: Most TB cases (81.0%) were diagnosed between ages 1 and 5; 55.2% were male, and 72.2% resided in metropolitan areas. Over half (58.6%) were unvaccinated with BCG. Unvaccinated children were diagnosed earlier than vaccinated peers (p < 0.01), though no significant differences were found in the clinical presentation of TB, risk factors, or healthcare utilization. Pulmonary TB was most common (51.7%), and 68.4% of children were hospitalized. PHC services were underutilized (32.7%), while ED visits were more frequent, primarily for infectious and respiratory conditions. One child died, with TB diagnosed post-mortem.

Conclusions: TB in young children remains a public health concern in Portugal, especially in unvaccinated populations. Strengthening PHC access and preventive care is essential to improve early detection and outcomes.

What is known: • TB causes substantial morbidity and mortality, particularly in children under 5 years of age. • Pediatric TB remains underdiagnosed and underrepresented in research, surveillance, and national policies.

What is new: • BCG vaccination was associated with later onset of TB. • Children under five with TB represent a particularly vulnerable group; thus, it is critical to promote preventive care to ensure early diagnosis and effective follow-up.

Floating-Harbor syndrome (FHS) is a rare disorder characterized by facial dysmorphism, short stature, and delayed language development. We evaluated the clinical features and treatment outcomes of 10 Chinese children with FHS who received recombinant human growth hormone (rhGH) therapy or nutritional intervention. We retrospectively extracted the clinical features, height standard deviation score (SDS), genetic characteristics, and treatment outcomes from the medical records of 10 Chinese children with FHS. The treatment response was classified as good, moderate, or poor based on annual height SDS change and height velocity. All patients presented with short stature at diagnosis, distinct facial features, and non-specific skeletal abnormalities. All patients had delayed language development, feeding difficulties, intellectual disability, and diverse organ abnormalities. Whole-exome sequencing (WES) identified pathogenic or likely pathogenic variants in exon 34 of SRCAP, and eight mutations were identified, including three variants (c.7225dupG;p.Ala2409GlyfsTer34, c.7382delC;p.Pro2461GlnfsTer 14, and c.7255C > T;p.Gln2419Ter) that had not been previously reported in case reports. Eight patients were treated with rhGH, six of whom demonstrated good responses, one a moderate response, and one a poor response. One patient with a contraindication to rhGH treatment achieved meaningful height SDS improvement after nutritional therapy.

Conclusion: Although FHS is a rare condition, we characterized its clinical features in a Chinese patient cohort. RhGH improved height in most patients, and nutritional optimization appeared to support growth in one child.

What is known: • Floating-Harbor syndrome (FHS) is a rare genetic disorder characterized by facial dysmorphism and short stature, and it is often treated with growth hormone. The majority of documented cases of FHS have historically been concentrated within Western populations. The number of cases reported in Asian countries remains small.

What is new: • We report three SRCAP variants that have not been previously documented in case reports among 10 Chinese children with FHS. Most children showed favorable short-term responses to recombinant human growth hormone, and one child demonstrated an improvement in height standard deviation score with structured nutritional therapy alone.

Background: Advances in perinatal and neonatal care have progressively lowered the threshold of viability and improved survival among extremely preterm infants (EPIs). However, this increase in survival has not consistently been accompanied by comparable improvements in neurological outcomes, which in a relevant proportion of cases remain poor. This discrepancy generates the ethical dilemma of deciding whether to proceed with active resuscitation at the margins of viability. Historically, decisions have relied heavily on gestational age (GA), yet this single parameter has proven insufficient.

Purpose: This narrative review examines the conceptual and practical challenges in determining the limit of active resuscitation and explores how healthcare professionals and international scientific and bioethical committees have addressed this issue, as well as how families experience and cope with it.

Results: Evidence demonstrates that multiple fetal and pregnancy-related factors significantly influence survival and long-term neurodevelopmental outcomes, outperforming GA alone. Simultaneously, clinicians and families are confronted with prognostic uncertainty, psychological burdens, and cognitive biases that complicate decision-making. In this context, shared decision-making emerges not as a simple transfer of information, but as an interpretative process centered on the newborn's best interests.

Conclusion: No universal gestational threshold can determine when resuscitation should or should not be initiated. Rather, the "limit" is best understood as a case-specific decision point, shaped by prognosis, parental values, ethical judgment, and clinical feasibility. Future efforts should focus not on eliminating the grey area, but on developing ethically grounded strategies for navigating it responsibly, compassionately, and with intellectual humility.

What is known: • Gestational age alone is widely used to guide resuscitation decisions, but it is an imprecise and insufficient parameter. • Multiple clinical and perinatal factors significantly influence prognosis.

What is new: • The limit of resuscitation is context-dependent, shaped by prognosis, parental values, and ethical judgment. • Shared decision-making is not just information sharing, but a collaborative process to determine the newborn's best interests.

This study aimed to evaluate the outcomes of a pediatric home care service (PHCS) provided to children with medical complexity (CMC) and to identify and prioritize the unmet care needs of their caregivers. This quasi-experimental study was conducted from April 2024 to January 2025 among 66 caregivers of CMC who had received a PHCS for more than 1 month at a tertiary hospital in South Korea. Cross-sectional analysis examined PHCS provision and caregivers' unmet needs using the Borich Needs Assessment Model, Importance-Performance Analysis, and the Locus for Focus Model, while retrospective longitudinal analysis of electronic medical records (EMR) and health insurance data (HIRA) assessed changes in healthcare utilization before and after PHCS participation. Most children in the PHCS required multiple medical supports, including gastrostomy feeding (91%), suctioning (96%), and mechanical ventilation (68%). PHCS involved physician (median 3/year), nurse (13/year), and home therapy visits (22.5/year). Phone consultations were made available during business hours. After the PHCS began, there were significant decreases in pediatric intensive care unit admissions (54.5 to 19.7%, p < 0.001), hospitalizations (89.4 to 69.7%, p = 0.015), and the number of outpatient department visits (11.7 ± 3.8 to 10.4 ± 2.8, p = 0.006). The caregivers were highly satisfied, but the key unmet needs included emergency room communication, education on disease prevention, and referral coordination.

Conclusion:  PHCS are associated with decreased healthcare utilization among CMC. Although caregivers reported high satisfaction with the PHCS, the identified unmet needs provide evidence for enhancing service quality and inform future intervention research.

What is known: • Multidisciplinary pediatric home care models integrated within tertiary care institutions are effective in managing children with medical complexity. • Caregivers frequently report high levels of unmet needs due to the intensity and complexity of home caregiving responsibilities.

What is new: • Pediatric home care services are associated with reduced pediatric intensive care unit admissions and hospitalizations among children with medical complexity. • The identified caregivers' unmet needs inform the optimization of pediatric home care services and guide future intervention development.

Purpose: Staphylococcal scalded skin syndrome (SSSS), caused by Staphylococcus aureus producing exfoliative toxins, develops in only a subset of colonized children, suggesting host genetic factors may influence disease susceptibility. Desmoglein-1 (DSG1), a key adhesion protein in the superficial epidermis, is the primary target of these exfoliative toxins. This study examined whether genetic variation in the DSG1 gene is associated with SSSS in children.

Methods: We conducted a prospective case-control study of children aged 0-5 years, including patients diagnosed with SSSS and age-matched controls who either had non-SSSS S. aureus infections or were asymptomatic carriers, and whose isolates were PCR-confirmed to harbor at least one of the eta and/or etb toxin genes. Genotyping of the DSG1 rs12967407 single nucleotide polymorphism (SNP) was performed using PCR-RFLP.

Results: Eighty SSSS cases and forty controls were enrolled. The C/C genotype was significantly more common in cases than controls (43.8% vs. 12.5%; p = 0.003), whereas the T/T genotype predominated in controls (47.5%) compared to patients (22.5%) (p = 0.006). The C allele was overrepresented among cases (61.3% vs. 32.5%, p < 0.001). Multivariate logistic regression, adjusted for confounders, showed that children with the C/C genotype have a significantly increased risk of developing SSSS (OR = 4.7; 95% CI: 1.3-17.1; p = 0.018).

Conclusion: DSG1-focused genetic profiling may aid in identifying children with heightened susceptibility to SSSS; the rs12967407 C/C genotype confers increased risk for SSSS in children, while the T/T genotype appears to have a protective association.

What is known: • Staphylococcal scalded skin syndrome (SSSS) results from S. aureus exfoliative toxins targeting Desmoglein-1; yet interindividual susceptibility varies. • Host genetic factors in SSSS pathogenesis have not been systematically explored.

What is new: • This study identifies a significant association between the DSG1 rs12967407 polymorphism and paediatric SSSS. • A significantly increased frequency of the homozygous C/C genotype was detected in SSSS-affected patients, indicating a potential genetic susceptibility. • These findings introduce host genetic variation as a novel determinant in SSSS pathogenesis beyond bacterial virulence.

Purpose: Familial Mediterranean fever (FMF) is the most common hereditary autoinflammatory disease in childhood. While its impact on linear growth has been partially explored, data on pubertal development remain scarce. This study aimed to evaluate growth and pubertal characteristics in children with FMF by comparing them with national reference data.

Methods: This retrospective cross-sectional study included 140 children (73 females, 67 males) with FMF, aged 8-18 years, followed between 2019 and 2024. Clinical records were reviewed to extract anthropometric, pubertal, and genetic data. Pubertal timing was assessed by Tanner staging and compared with national reference data, and growth outcomes were evaluated by comparing final height (FH) to target height (TH). MEFV gene mutations were analyzed, focusing on the M694V variant.

Results: Pubertal onset occurred at similar ages to healthy peers in both sexes. However, completion of puberty tended to occur at later ages in FMF patients (p < 0.001), particularly in males. Menarche age in females was not significantly different from reference data. Among those who reached FH, 83.3% of females and 91.7% of males achieved or exceeded their TH. No association was found between age at diagnosis and pubertal timing. Males carrying the M694V variant entered puberty earlier than non-carriers (p = 0.013), while no consistent pattern was observed in females.

Conclusion: Despite later completion of puberty, children with FMF exhibited largely preserved growth under regular colchicine therapy. These preliminary findings highlight the importance of monitoring pubertal progression in FMF and suggest that effective disease control supports favorable developmental outcomes.

What is known: • Familial Mediterranean fever (FMF) is the most common childhood autoinflammatory disease. • Colchicine therapy preserves linear growth in most patients, but its effect on puberty has not been systematically studied.

What is new: • Pubertal onset appeared normal, but pubertal progression may be slower in FMF, especially in males, while final height is largely preserved under colchicine therapy.