European Journal of Pediatrics最新文献

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.

Extremely preterm (EP) infants, defined as those born before 28 weeks of gestation or weighing less than 1000 g, face high rates of long-term complications despite improved neonatal survival. This narrative review summarizes current evidence and international consensus on the post-discharge follow-up of EP infants, with emphasis on neurodevelopment, somatic growth, pulmonary and sensory outcomes, and family-centered care. Key domains include early identification of cerebral palsy using neurological assessments such as the General Movements and Hammersmith scales, cognitive monitoring with standardized tools (e.g., Bayley Scales), nutritional and growth surveillance beyond anthropometrics, structured respiratory evaluations including immunoprophylaxis, and timely screening for vision and hearing deficits. In addition, the integration of caregiver-reported outcomes and mental health screening is essential to tailor follow-up strategies and support parental wellbeing. Models of care vary globally, from tertiary-based programs to hybrid and community-integrated approaches, highlighting the need for adaptable, interdisciplinary frameworks. Coordinated long-term follow-up that extends into early childhood is vital to reduce disparities and optimize functional outcomes in this vulnerable population. What is Known: • Extremely preterm infants are at high risk for long-term neurodevelopmental, respiratory, nutritional, and sensory complications, even when neonatal survival improves. • Neurodevelopmental tools such as the Bayley, General Movements, and Hammersmith Scales are widely used for early screening of cognitive and motor outcomes. What is New: • It highlights the importance of Patient-Reported Outcome Measures in complementing clinical surveillance with caregiver perspectives. • It underscores the limitations of early assessments alone and supports extending developmental monitoring into the preschool and school-age years.

BCG site reactivation is reported in Kawasaki disease (KD). However, it is not a part of American Heart Association (AHA) guidelines. Records of all KD patients admitted between January 2009 and June 2024 were reviewed. Patients with BCG site reactivation were analysed. Among 1206 KD patients, 19 had BCG site reactivation (1.57%). Median age at diagnosis was 7 months. Twelve out of 19 patients (63.2%) were infants. Echocardiography showed coronary artery abnormalities (CAAs) in 11 (57.9%; aneurysms in 10, dilatation in 1) and myocarditis in 1. CAAs developed in 83.3% (10/12) of infants with KD and BCG site reactivation, compared to 37.2% (73/196) of infants who did not have BCG reactivation (p = 0.006; odds ratio: 8.4). All patients received intravenous immunoglobulin (IVIg) and aspirin. Infliximab was used for IVIg resistance in 4 (21.1%) and for primary intensification in 6 (31.6%). Cumulative follow-up was 386 patient-months. Seven patients with CAAs showed regression over 12 months.

Conclusion:  BCG site reactivation is uncommon in children with KD at our centre. It primarily occurs in infants with KD. There is a eightfold higher risk of CAAs among infants with KD and BCG site reactivation, than in those without BCG reactivation.

What is known: • BCG site reactivation is a recognised clinical feature of Kawasaki disease. • The role of BCG site reactivation as a predictor of coronary artery abnormalities (CAAs) has not been clearly established.

What is new: • At our centre, BCG site reactivation was observed in 1.58% of KD patients, predominantly in infancy. • Infants with BCG site reactivation had an eightfold higher risk of CAAs (83.3% vs 37.2%). • BCG reactivation may serve as a simple bedside marker to identify infants at risk of severe KD who may require closer monitoring and timely/intensified therapy.

Extubation failure, occurring in 3-22% of pediatric intensive care unit (PICU) patients, contributes to increased morbidity, prolonged hospitalization, and healthcare costs. Point-of-care ultrasound (POCUS) provides a bedside, radiation-free method to assess extubation readiness. This pilot study evaluated the predictive value of lung, diaphragmatic, and laryngeal ultrasound for extubation success in mechanically ventilated children. In this prospective pilot study, 30 children (22 males, 8 females; aged 1 month-14 years) ventilated for > 24 h were enrolled. Patients with congenital diaphragmatic, pulmonary, or laryngeal abnormalities were excluded. Ultrasound examinations of the diaphragm, lungs, and larynx were performed within 24 h before and after extubation. Patients were classified as successful or failed extubation (reintubation within 48 h). Receiver operating characteristic (ROC) curve analysis was used to determine optimal cut-off values. Extubation succeeded in 18 (60%) and failed in 12 (40%) patients. Diaphragmatic excursion > 5.5 mm was the strongest predictor (sensitivity 100%, specificity 91.7%). Diaphragmatic thickening fraction > 29% (sensitivity 88.9%, specificity 66.7%); lung ultrasound score < 16.5 (sensitivity and specificity 80%); and body mass index > 14.8 (sensitivity 100%, specificity 63.6%) were also significant predictors. Reduced laryngeal air width difference moderately predicted failure (specificity 83.3%, p = 0.025).

Conclusion: Diaphragmatic excursion and thickening fraction are the most accurate ultrasound predictors of extubation success, with lung and laryngeal assessments providing complementary insights. Combining these modalities may improve bedside evaluation of extubation readiness in critically ill children.

What is known: • Extubation failure remains frequent in pediatric intensive care units, and currently used clinical predictors have limited reliability. • Bedside ultrasonography enables non-invasive assessment of diaphragmatic, pulmonary, and laryngeal function in critically ill children.

What is new: • This pilot study integrates diaphragmatic, lung, and laryngeal ultrasonography into a single bedside extubation assessment strategy in children. • Diaphragmatic excursion and diaphragmatic thickening fraction emerged as the strongest ultrasound predictors of extubation success.

Late-onset Pompe Disease (LOPD) is a subtype of Pompe Disease (PD) that manifests any time after infancy. This review explores the efficacy, safety and limitations of various therapeutic options for LOPD, including enzyme replacement therapy (ERT), substrate reduction therapy (SRT), pharmacological chaperone therapy (PCT), supplementary therapies, and gene therapy from inception to February 2025, and compares them where possible. Emphasis is given to therapeutic selection and the potential for switching between approved ERT formulations based on the recently updated Triple-S (Start, Switch, Stop) consensus recommendations. A literature search was done on PubMed, ScienceDirect, and Embase utilizing MESH terms, keywords, and Boolean operators. It included all English-language studies relevant to our topic from inception to February 2025. Among the ERT, alglucosidase alfa significantly improves the 6-min walk test (6MWT) and forced vital capacity (FVC%), but immunogenic and infusion-related reaction rates are high. On the contrary, avaglucosidase alfa has superior efficacy in improving 6MWT and FVC% along with fewer side effects. Cipaglucosidase alfa + miglustat, which is an approved alternative ERT rather than an adjunctive or emerging therapy, shows favorable motor and respiratory outcomes compared with standard ERT but they are associated with a much higher incidence of side effects. Moreover, adding clenbuterol to ERT might improve motor and respiratory function, but it is associated with cardiovascular risks. PCT, SRT, and Gene Therapy show mild motor and respiratory improvement, but due to limited studies, their efficacy and safety are still uncertain.

Conclusion:  Three approved ERT options-alglucosidase alfa, avaglucosidase alfa, and cipaglucosidase alfa + miglustat-are now available for LOPD management and should be considered therapeutic alternatives rather than adjunctive or emerging treatments. Avaglucosidase alfa remains the most effective treatment option with fewer adverse effects. Based on the Triple-S consensus, switching between ERTs should be considered in cases of suboptimal response, intolerance, or significant adverse events, to ensure individualized and optimized patient care. Also, cipaglucosidase alfa + miglustat and clenbuterol might improve the motor and respiratory status but have potential adverse effects.

What is known: • ERT with alglucosidase alfa and avalglucosidase alfa are still primary treatment options. • Despite immunogenic response challenges in some cases, alglucosidase alfa and avalglucosidase alfa improve walking and respiratory function in LOPD.

What is new: • Cipaglucosidase alfa with miglustat and clenbuterol show promising results but show common adverse events. • Pharmacological chaperone therapy (PCT) and gene therapy are new emerging options that can offer potential improvements and require further research.

To examine the association between any breastfeeding duration and emotional and behavioral problems in 4-year-old children, considering psychosocial, demographic, and perinatal variables. The sample included 564 children. Any breastfeeding duration was categorized into four groups: no breastfeeding, 1-4 months, 4-8 months, and more than 8 months. Emotional and behavioral development was assessed using the Child Behavior Checklist 1^½-5 (CBCL 1^½-5). Multiple linear and logistic regression models were applied to explore associations between breastfeeding groups and CBCL 1^½-5 outcomes. Any breastfeeding for 1-4 months was associated with lower scores on internalizing (β =  - 4.21; p = 0.014) and externalizing (β =  - 3.30; p = 0.044) problems scales, including emotional reactivity, anxiety/depression, somatic complaints, withdrawn behavior, and aggressiveness. It also reduced the risk of clinical scores for internalizing problems (OR = 0.035; p = 0.010) and symptoms compatible with autism spectrum disorder (ASD) (OR = 0.32; p = 0.041). Protective effects were found for 4-8 months of breastfeeding limited to specific subscales. No additional benefits were observed beyond 8 months.

Conclusions:  Early breastfeeding, particularly within the first 4 months, may protect effects against emotional and behavioral problems, suggesting that intensity rather than prolonged durations could be more relevant for child development.

What is known: • Any breastfeeding has been associated with positive effects on child development, including possible protection against behavioral and emotional problems. • Evidence on the duration of any breastfeeding and its impact on mental health outcomes in early childhood remains inconsistent.

What is new: • Breastfeeding during the first 4 months is associated with fewer internalizing and externalizing problems at 4 years. • Protective effects diminish beyond 8 months, suggesting intensity in the early period may be more relevant than prolonged duration.

The prevalence of alcohol and substance abuse among adolescents has shown variations over the years. Emerging data support the long-term impact of the COVID-19 pandemic on adolescents' mental health, well-being, and habits. This retrospective multicenter study, conducted in four children's hospitals across Italy and the UK, aimed to investigate the impact of the pandemic on emergency department (ED) attendances for alcohol and substance intoxications in adolescents. The medical records of all adolescents, 10-17 years old, who presented to the EDs for alcohol or substance intoxication between 2016 and 2024 were reviewed. The primary outcome was the number of ED attendances for alcohol and substance intoxication in adolescents compared to the total number of pediatric ED attendances before and after the onset of the COVID-19 pandemic. During the study period, 1818 adolescents presented with alcohol or substance intoxications: 755 (41.5%) in the pre-pandemic period, 1063 (58.5%) during the pandemic. The prevalence of attendances was significantly different between pre- and pandemic periods, at 4.6/1000 and 6.7/1000, respectively (p ≤ .0001). An increasing trend of intoxications with suicidal intent was observed across all participating centers during the pandemic. Intoxications with suicidal intent were significantly more frequently associated with substances other than alcohol. Alcohol was the substance most frequently used in intoxications without suicidal intent.

Conclusion:  This multicenter study showed that the COVID-19 pandemic was associated with a marked increase in alcohol- and substance-related intoxications among adolescents, particularly those with suicidal intent, underscoring the need for enhanced preventive and mental health interventions.

What is known: • Alcohol and substance abuse represents an increasing health problem among adolescents, and is a common cause of attendance to the pediatric emergency department. • The COVID-19 pandemic was associated with changes in adolescents' mental well-being and habits.

What is new: • This multicenter study showed an increased prevalence of pediatric emergency department attendances for alcohol and substance intoxication during the COVID-19 pandemic, compared to the years preceding the pandemic. • An increasing trend of intoxications with suicidal intent during the pandemic was observed.