Frontiers in Pediatrics最新文献

Dominant deafness-onychodystrophy syndrome (DDOD) and hypokalemic periodic paralysis (HypoPP) are distinct autosomal dominant disorders caused by mutations in ATP6V1B2 and CACNA1S, respectively. We describe an eight-year-old female with congenital deafness, nail dysplasia, enamel hypoplasia, and recurrent episodes of hypokalemia-induced muscle weakness. Whole-exome sequencing (WES) revealed a de novo ATP6V1B2 nonsense variant (c.1516C>T, p.Arg506Ter) and a maternally inherited CACNA1S missense variant (c.1583G>A, p.Arg528His). The proband's mother and maternal grandfather carried the same CACNA1S variant with milder periodic weakness, indicating intrafamilial variability and reduced penetrance. This dual diagnosis broadens the phenotypic spectrum of both DDOD and HypoPP and illustrates how comprehensive genomic testing can elucidate complex, blended phenotypes. Although no direct mechanistic link between ATP6V1B2 and CACNA1S has been demonstrated, their coexistence highlights the importance of considering multilocus genetic etiologies in rare diseases and supports precision medicine approaches integrating genomic diagnostics and individualized management.

Objective: To determine the prevalence, clinical characteristics, outcomes, and mortality risk factors of pediatric acute respiratory distress syndrome (PARDS) among children with sepsis, and to compare pulmonary and extrapulmonary PARDS phenotypes.

Methods: This retrospective cohort study analyzed children aged 0-14 years with Phoenix-defined sepsis admitted to a tertiary pediatric intensive care unit between 2015 and 2023. PARDS was defined according to PALICC-2 criteria. Demographics, illness severity, microbiology, organ support requirements, and clinical outcomes were compared between children with and without PARDS and between pulmonary and extrapulmonary phenotypes. Multivariable logistic regression models were used to identify independent predictors of mortality.

Results: Among 279 children with Phoenix-defined sepsis, 161 (57.7%) developed PARDS. Children with PARDS were younger, had higher PELOD-2 and Phoenix severity scores, and required significantly more mechanical ventilation, vasoactive support, and renal replacement therapy compared with those without PARDS. Mortality was substantially higher in the PARDS cohort (36.6% vs. 7.6%). Model-estimated mortality probability increased stepwise with worsening PARDS severity and was highest among children with both septic shock and severe PARDS. Pulmonary PARDS accounted for two-thirds of cases, whereas extrapulmonary PARDS demonstrated a higher inflammatory burden and more bacterial infections. In adjusted analyses, the presence of PARDS, higher PELOD-2 score, and greater cumulative fluid balance were independently associated with mortality.

Conclusion: PARDS is a common and common complication associated with high risk of pediatric sepsis, associated with severe organ dysfunction, increased support requirements, and markedly elevated mortality. These findings underscore the need for multicenter validation to confirm the epidemiology and risk factors of sepsis-associated PARDS and to guide earlier recognition and management approaches for this high-risk population.

Background: This study evaluated the clinical efficacy of closed reduction with modular external fixation for pediatric distal humeral metaphyseal-diaphyseal junction (MDJ) fractures.

Methods: We retrospectively analyzed 45 pediatric patients (mean age 7.87 ± 5.03 years) treated from January 2020 to December 2024. Patients were divided into "linear" (n = 18, two half-pins/one rod) and "triangular" (n = 27, four half-pins/three rods) configuration groups based on external fixator configuration. Outcomes included fracture healing time, radiographic parameters (Baumann angle, shaft-condylar angle), Flynn elbow scores, and complications. Fracture line height (The vertical distance from the highest point of the fracture line to the upper edge of the olecranon fossa) was retrospectively measured to analyze configuration selection.

Results: The mean operative time was 42.8 ± 12.3 min in the "linear" group and 46.5 ± 17.9 min in the "triangular" group. All fractures healed satisfactorily. Healing time (11.0 ± 2.6 weeks vs. 10.2 ± 3.2weeks), final Baumann angles (72.80 ± 3.71 ° vs. 73.81 ± 7.40 °), and shaft-condylar angles (39.38 ± 8.32 ° vs. 35.51 ± 7.67 °) showed no significant differences between groups (P > 0.05). Excellent-to-good Flynn scores were achieved in 94.44% (linear) vs. 92.31% (triangular) of patients, with no statistically significant difference (P > 0.05). Complications included pin tract infections (7 vs. 11 cases) and fixation loosening (2 cases each). The average fracture line height was significantly lower in the "linear" configuration group (17.51 ± 3.35 mm) compared to the "triangular" group (28.02 ± 7.93 mm).

Conclusions: Modular external fixation demonstrated promising outcomes for pediatric distal humeral MDJ fractures, providing a minimally invasive treatment option with favorable functional recovery, and no second surgery is required to remove the internal fixation device. Low-position MDJ fractures (<20 mm) with a linear configuration can be sufficiently stabilized with K-wires, and the "triangular" configuration is more suitable for high-level fractures (≥20 mm).

Introduction: Unmet health-related needs (UHNs) in paediatric populations are often under-researched due to methodological challenges. Yet, understanding these UHNs is essential to improve health outcomes and quality of life for children. Importantly, their families also bear a substantial burden throughout the disease trajectory. This study (i) identifies UHN criteria specific to children and families, (ii) compare them with criteria included in the KCE NEED framework, and (iii) maps the methodological tools used to assess these needs.

Methods: A scoping review was conducted following JBI methodology and reported using PRISMA-ScR. Selection of sources of evidence was conducted double-blind. UHNs were thematically analysed across health, healthcare and social domains, focusing on children with haematologic malignancies as a representative population. Studies were solely included if conducted in upper-middle and high-income countries.

Results: The review (n = 34) identified 17 UHN criteria experienced by children or their families. The criteria varied by child's age: in older groups UHNs related to treatment adherence, age-dependent information and involvement, and future perspectives, while across all ages, challenges with educational continuity, mental health, social interactions, forgone care and autonomy were mentioned. UHN for families relate to family and financial stability, mental health, social interactions, information needs, care organization, and privacy. Specific to siblings, parental attention was identified. A total of 14 tools were identified, comprising 8 tools to assess patients' UHNs, and 6 on their families' UHNs.

Discussion: The multifaceted nature of UHNs in children with haematologic malignancies and their families calls for a holistic, age-appropriate approach to care. These findings may be extrapolated to broader paediatric populations, highlighting the need for age-dependent communication, sustained educational support, and comprehensive family-centred care.

Systematic review registration: https://osf.io/xfqyw/overview.

The term Shaken Baby Syndrome, now largely replaced by the more general term abusive head trauma (AHT), poses significant challenges for forensic assessment and investigation. The clinical assessment of these cases remains a complex process that necessarily involves collecting a complete medical history, taking into account the caregivers and the child's socio-economic and family context, a thorough physical examination, and additional diagnostic investigations. In cases where the child has died, the autopsy-whether performed for investigative or purely diagnostic purposes-remains an essential step requiring a rigorous methodological approach, technical expertise, and in-depth knowledge of the subject. Guided by previously conducted instrumental examinations, the autopsy includes a fundamental macroscopic evaluation followed by the essential histological assessment of the injuries. Given the importance of the topic, and the implications of an erroneous conclusion for both the young patient and their family, this work aims to compile methodological updates from the last ten years, in order to promote greater uniformity in the medico-legal practice.

Objective: The objective of this paper was to understand the nutritional status of hospitalized children and explore the clinical application value of the modified STRONGkids and PYMS screening tools.

Methods: Nutritional risk screening was performed using the modified STRONGkids and PYMS tools on 302 children admitted to the pediatric department of our hospital between April 2021 and March 2023. Differences in clinical outcomes and biochemical indicators under different nutritional statuses were analyzed.

Results: Overall, 302 children were included in the current study. The modified STRONGkids screening tool identified 18 (5.96%) children at high risk of malnutrition, 210 (69.54%) at moderate risk, and 74 (24.50%) at low risk. The PYMS screening tool identified 16 (5.30%) children at high risk, 152 (50.33%) at moderate risk, and 134 (44.37%) at low risk. According to WHO nutritional assessment standards, 150 (49.67%) children were identified as borderline malnourished or malnourished. Both the modified STRONGkids and PYMS evaluations indicated that children with digestive system diseases had a significantly higher risk of malnutrition compared with those who had other systemic diseases. Moreover, children under 1 year of age had a significantly higher risk of malnutrition compared with other age groups (P < 0.05). High-risk children identified by both screening methods had higher rates of hospital-acquired infections, longer hospital stays, and lower levels of hemoglobin and prealbumin compared with those at moderate and low risk (P < 0.05). The modified STRONGkids tool demonstrated higher sensitivity and accuracy in predicting malnutrition in hospitalized children compared than the PYMS tool (P < 0.05).

Conclusion: Children with digestive system diseases and those under 1 year of age are at high risk for malnutrition. Both the modified STRONGkids and PYMS tools can effectively identify children at risk of malnutrition, with the modified STRONGkids tool demonstrating better application results.

Background: Bronchial asthma is a prevalent chronic respiratory disease in children, with long-term inhalation therapy being essential for disease control; however, adherence remains a significant challenge, particularly in primary care settings. This study aimed to identify the key obstacles affecting long-term inhalation therapy compliance among pediatric asthma patients managed at primary hospitals.

Methods: A retrospective analysis was conducted on 268 children aged 4-16 years with bronchial asthma who were treated between January 2024 and January 2025. Patients were divided into poor adherence [Morisky Medication Adherence Scale-8 (MMAS-8) score <6] and good adherence (MMAS-8 score 6-8) groups. Data on demographic characteristics, disease-related features, asthma control level, pulmonary function indices, and health-related quality of life (HRQoL) were collected and compared between the two groups.

Results: Among the 268 children, 162 (60.4%) were in the poor adherence group and 106 (39.6%) in the good adherence group. The poor adherence group had a lower mean age (7.83 ± 1.72 vs. 8.47 ± 1.68 years), higher proportion of lower household income (10.49% vs. 4.72% with income <10,000 yuan), more frequent exacerbations in the past year (4.12 ± 1.24 vs. 2.53 ± 1.07), worse asthma control (30.25% vs. 10.38% uncontrolled), lower forced expiratory volume in 1 s (FEV₁: 75.34 ± 7.12% vs. 82.45 ± 6.34%), and lower total HRQoL score (69.36 ± 5.23 vs. 73.69 ± 5.12) (all P < 0.05). Multivariate analysis identified higher exacerbation frequency, uncontrolled asthma, hospitalization history, and family smoking as independent risk factors for poor adherence (all P < 0.05).

Conclusion: Key modifiable barriers to inhalation therapy adherence in children with asthma at primary hospitals include frequent exacerbations, poor disease control, prior hospitalizations, and household smoking, highlighting the need for multifaceted interventions targeting these factors.

Salmonella is a gram-negative bacillus that typically causes gastrointestinal disease and rarely affects the pulmonary system, particularly in immunocompetent children. We report a 4-year-old immunocompetent Saudi boy who presented with severe respiratory distress requiring intubation and was found to have left-sided pleural effusion. Pleural fluid and tracheal aspirate cultures grew Salmonella species, while blood, stool, and CSF cultures were negative. Chest computed tomography revealed complicated empyema with necrotizing pneumonia. Despite appropriate antimicrobial therapy and supportive care, the patient deteriorated and ultimately required extracorporeal membrane oxygenation (ECMO). This case illustrates a rare and severe presentation of complicated pulmonary Salmonella infection in an otherwise healthy child, occurring either following or concurrent with influenza infection. It underscores the critical importance of timely source control and highlights the potential association with cytokine storm in severe disease progression.

Introduction: Family Integrated Care (FICare) is an approach that empowers parents to become primary caregivers in the Neonatal Intensive Care Unit (NICU), placing them at the centre of their baby's care. In practice, there is a diversity among nurses regarding how they view and implement FICare. An effective education and training programme must consider this diversity. Understanding both nurses' perspectives and their training needs is critical for the long-term, sustainable, and effective implementation of the FICare model. This study aims (1) to explore nurses' views and perspectives regarding the implementation of FICare in the NICU, and (2) to assess the FICare-related educational needs of NICU nurses in preparation for a curriculum update.

Methods: This initial phase of an exploratory sequential mixed-methods study employed in-depth, face-to-face interviews with 23 NICU nurses, utilising a semi-structured questionnaire that included hypothetical scenarios.

Results: The main themes from the inductive thematic analysis were empowering parents, supporting parents, teamwork (including support when stress is mirrored between families and nurses), FICare benefits, FICare barriers and challenges, and professionalism. Nurses emphasised the importance of individually assessing families' needs, the ripple effect of their approaches on families, and the significance of mutual interaction. They also noted that bonding and fostering family unity are the most crucial aspects of FICare. Their effects on families can last longer than the nurses' contact with them. Comprehensive education and ongoing guidance further supported effective nurse engagement in FICare. Nurses' most perceived education needs were conducting difficult conversations and providing emotional support to parents.

Conclusion: We identified key facilitators, challenges, nurses' attitudes, and specific educational needs related to FICare based on nurses' experiences. These findings provide valuable guidance for improving the implementation of FICare practices in the NICU and offer essential insights to support the development of a neonatal nursing education curriculum.