Pediatric Reports最新文献

Objectives: Global Developmental Delay (GDD) and Intellectual Disability (ID) are prevalent neurodevelopmental disorders with significant disability burden, and genetic factors play a crucial role in their etiology. This study aimed to develop and validate a clinical prediction model for identifying children with GDD/ID at high genetic risk, facilitating targeted genetic testing.

Methods: We retrospectively analyzed clinical data of children with GDD/ID treated at Nanjing Children's Hospital from January 2019 to December 2023. Children with comorbid Autism Spectrum Disorder (ASD) were excluded. The dataset was randomly split into training and validation sets (7:3 ratio). Lasso regression was used to identify potential predictive factors for positive genetic test results, followed by multivariable logistic regression to select independent predictors, which were incorporated into a nomogram. Model performance was evaluated by discrimination, calibration, and clinical utility using decision curve analysis in both sets.

Results: Four independent predictors-craniofacial abnormalities, visceral abnormalities, physical growth abnormalities, and family history of ID-were identified. The resulting nomogram demonstrated an area under the curve (AUC) of 0.734., with good calibration and positive net benefit on decision curve analysis. Validation confirmed the reliability of the model.

Conclusions: We developed a clinically applicable prediction model to identify high genetic risk among children with GDD/ID without ASD. This model may serve as a preliminary screening tool to assist clinicians in prioritizing genetic testing and improving diagnostic efficiency in clinical practice.

Background and Clinical Significance: Urticaria in children is generally self-limiting, and infections are a significant trigger. While anti-IgE therapy (Omalizumab) is approved for chronic spontaneous urticaria (CSU) in adolescents and adults, its role in treating acute urticaria, particularly in children, is not well defined. Case Presentation: We present two pediatric cases of acute urticaria associated with Mycoplasma pneumoniae infection. Both cases were refractory to antihistamines and corticosteroids but showed rapid response with anti-IgE treatment. Conclusions: This is the first case report in the literature of pediatric acute urticaria treated with Omalizumab. These cases suggest a potential role for IgE-mediated pathways in acute urticaria related to Mycoplasma infection and raise the question of broader applications for Omalizumab beyond CSU.

Background: Open access endoscopy (OAE) allows outpatient endoscopic procedures without prior consultation with the endoscopist, a practice common in adult gastroenterology but not part of pediatric gastroenterology practice. Here we evaluate the feasibility and safety of a newly implemented pediatric OAE program.

Methods: We identified patients aged 18 and under who underwent OAE in the first year of our program using a prospectively maintained endoscopy database. The program involved three experienced endoscopists and included demographics, indications, interventions, and adverse events. Patients/parents received follow-up calls on day 1 and day 7 to detect adverse events and assess perceptions of the OAE process.

Results: A total of 54 outpatient OAE procedures were performed, with a median patient age of 10 years (range 18 months-18 years). This included 33 esophagogastroduodenoscopies (EGDs) and 16 colonoscopies, all with biopsies. ERCPs were performed for stone management (4) and stricture evaluation/stent exchange (1). All procedures were successful with no adverse events reported, and patient/parent feedback indicated that the OAE approach was beneficial in terms of lifestyle, socioeconomic, and psychological aspects. Some challenges were identified through follow-up discussions.

Conclusions: Our early experience suggests that pediatric OAE is feasible and appeared safe within this small pilot cohort, with no adverse events observed. Advantages of pediatric OAE include minimizing missed school days and reducing medical anxiety. Feedback has led to refinements in practice at our institution, and further study on OAE is warranted at the endoscopy society level. Larger studies are needed to determine safety, effectiveness, and generalizability.

Background/objective: Even in the absence of infection, prolonged rupture of membranes (PROM) has been associated with elevated neonatal C-reactive protein (CRP). As both the sensitivity and specificity of CRP in predicting early-onset neonatal sepsis (EOS) may be low, we aimed to describe CRP levels during the first 36 h of life in term infants born after PROM ≥ 24 h.

Methods: CRP was measured at 1, 12, and 36 h. Descriptive statistics and correlation analyses were performed, taking gestational age, birth weight, sex, delivery mode, and antibiotic treatment into account. Reference CRP values in healthy neonates without sepsis born after PROM were established.

Results: Median (range) CRP was 0 (0-62) mg/L, 0 (0-82) mg/L, and 4 (0-92) mg/L at 1, 12, and 36 h, respectively. CRP at 12 and 36 (p < 0.001) but not 1 h was positively correlated with gestational age and birth weight. There was no difference in CRP after C-section vs. vaginal delivery. Among infants without sepsis, CRP was higher at all time points in infants who did vs. those who did not receive antibiotics (p < 0.001).

Conclusions: CRP was low in term infants without sepsis born after PROM but with outliers above 60, 80, and 90 mg/L after 1, 12, and 36 h, respectively. Research is needed on the long-term outcomes of infants with inflammation, as evidenced by an elevated CRP after PROM.

Early identification of neurodevelopmental trajectories is essential for timely intervention in infancy. While joint mobility is often seen as an indicator of motor capacity, its link to early functional performance remains unclear. This study examined whether active shoulder range of motion and the quality of spontaneous movement quality relate to early upper limb function in infants under three months. Thirty-two healthy infants participated in a cross-sectional assessment. Video recordings analyzed with the General Movements Assessment classified movements as Fidgety or Writhing. Fine motor performance was evaluated using five items from the Denver II Screening Test. Active shoulder abduction was measured via two-dimensional frontal-plane analysis with Kinovea^®. Data analysis involved t-tests and Pearson correlations. Results showed that infants with Fidgety movements scored higher on fine motor tests than those with Writhing movements. Shoulder range of motion was slightly higher in infants with Writhing movements, but not significantly. No sex differences were found. Weak, nonsignificant correlations existed between shoulder range of motion and fine motor performance. The findings suggest movement quality, rather than limb mobility, is more connected to early motor function. Combining movement quality assessments with simple tests may improve early detection of subtle neuromotor issues and guide early stimulation strategies.

Aim: Early childhood caries (ECC) is a widespread and multifactorial oral disease that affects children globally. Parents' knowledge, attitudes, and behaviors are crucial in preventing ECC and supporting oral health. This study evaluated Croatian parents' understanding of children's oral health, their awareness of ECC risk factors, and their oral hygiene practices. Materials and methods: A cross-sectional study was conducted using an anonymous and voluntary online questionnaire from October to December 2024 among 948 parents of children aged 1-7 years across Croatia. The study assessed parents' knowledge of oral health, their understanding of the relationship between risk factors and early childhood caries, habits related to oral hygiene care, children's experiences with oral health problems, parents' self-assessment of their knowledge, as well as both their own and their children's general and oral health and hygiene practices. Data were analyzed using descriptive statistics, Chi-square test, Mann-Whitney U test, and Kruskal-Wallis test. Results: Overall parental knowledge was moderate, with significantly higher scores among older parents, those with university education, healthcare workers, and families with higher incomes (p < 0.05). Parents demonstrated good awareness of the importance of supervising tooth brushing until age seven (93.8%) and fluoride use (81.8%); yet gaps persisted regarding bacterial transmission, tooth eruption, and early orthodontic evaluation. Preventive dental visits were frequently delayed, and only 25.0% of parents reported using interdental cleaning aids. Caries was the most common oral health issue among children (22.3%). Conclusions: Despite moderate awareness and some adherence to preventive measures, significant knowledge and practice gaps remain among Croatian parents. Targeted educational interventions and nationwide preventive strategies are necessary to strengthen oral health literacy and reduce ECC prevalence.

Background: Hereditary Multiple Exostoses (HME) is a rare autosomal dominant skeletal disorder resulting from loss-of-function variants in the EXT1, EXT2, or EXT3 genes. While malignant transformation into chondrosarcoma is well documented, the incidence and characterization of non-skeletal malignancies in HME remain poorly defined.

Objective: We aimed to comprehensively review the literature for reported cases of non-skeletal malignancies in individuals with HME and evaluate a potential association with hematologic cancers, particularly in the pediatric population.

Methods: An extensive literature search was conducted in the PubMed database up to August 2025 using search terms related to HME and malignancy. Eligible reports included case descriptions of non-skeletal cancers occurring in patients with confirmed or suspected HME. Extracted data included patient age, sex, cancer type, and available genetic or molecular findings.

Results: Thirteen cases of non-skeletal malignancies associated with HME were identified. Fewer than half underwent molecular genetic testing. Six cases occurred in pediatric patients, four of which involved hematologic malignancies, three leukemias and one Burkitt lymphoma. In adults, malignancies affected a range of organ systems, including respiratory, gastrointestinal, nervous, and endocrine. A marked male predominance was observed (11 males vs. 2 females).

Conclusions: Although a definitive causal relationship cannot be established, hematologic malignancies in pediatric HME patients appear to be disproportionately represented among reported cases. This finding highlights the need for further investigation through large-scale, population-based studies incorporating both clinical and genetic data.

Background/Objectives: Lumbar puncture (LP) remains a vital pediatric procedure for diagnosing neurological and systemic conditions. Despite its clinical significance, parental hesitation to authorize pediatric LP often impedes early diagnosis and care. This study aims to evaluate parental knowledge and attitudes regarding pediatric LP in the Northern Border Region of Saudi Arabia, offering insights to inform targeted education strategies. Methods: A cross-sectional survey was conducted between February and August 2025 using a validated online questionnaire distributed via social media. The survey captured sociodemographic data and assessed awareness and attitudes toward pediatric LP. Univariate and multivariate logistic regression analyses examined factors associated with knowledge and consent. Results: Among 703 respondents, 60.6% were mothers and 95.6% were Saudi nationals. While 64.6% acknowledged the importance of aseptic technique, just 38.1% considered LP a safe practice. Knowledge levels were highest in parents aged 18-25 years (p < 0.001). Physician recommendation was the key factor in parental consent (87.0%), with 59.2% willing to approve the procedure following advice. Parents aged 26-35 years showed greater acceptance (OR = 1.54, 95% CI: 1.02-2.32, p = 0.04), whereas those older than 46 years were less receptive (OR = 0.51, 95% CI: 0.30-0.86, p = 0.01). Conclusions: Overall, parental knowledge regarding pediatric LP is limited. Targeted health education campaigns are needed to improve parental understanding of the procedure's safety, importance, and benefits.

Background: Kawasaki Disease (KD) is an acute vasculitis affecting children under five years of age, with atypical presentations posing diagnostic challenges and a higher risk of coronary complications when untreated. Methods: We report on a 2-year-old girl with persistent fever, limb edema, erythema, and non-purulent conjunctivitis, without cervical lymphadenopathy or the typical rash. Inflammatory markers were assessed, and a cytokine expression profile was obtained using qRT-PCR. Results: Laboratory analysis showed elevated C-reactive protein (11.1 mg/dL), high fibrinogen (468 mg/dL), borderline D-dimer (484 ng/mL), and a normal platelet count. The cytokine profile revealed marked upregulation of IFN-α, IFN-β, IFN-γ, IL-1α, IL-1β, IL-5, IL-8, and IL-12, with downregulation of IL-2 and IL-4, as well as low TNF-α levels. These findings, although not pathognomonic, were consistent with an inflammatory profile compatible with atypical KD, in which a preceding viral infection may have played a role, although causality cannot be established. Conclusions: This case highlights the diagnostic utility of cytokine profiling in suspected atypical KD, particularly when clinical criteria are incomplete. The integration of immunological data may aid in earlier recognition and therapeutic intervention, thereby helping to prevent cardiovascular sequelae. Cytokine analysis may serve as a promising adjunct for atypical KD diagnosis, although confirmation in larger cohorts is needed.

Diaphragmatic paralysis (DP) in neonates is a rare yet potentially life-threatening cause of respiratory distress, often resulting from obstetric trauma or cardiac surgery. This report presents two distinct cases of bilateral DP: one following a dystocic delivery with associated brachial plexus involvement, and the other linked to a genetic mutation (SYNGAP1) in a neonate with no birth trauma. Diagnosis was established through imaging, fluoroscopy, electromyography, and genetic testing. In both cases, conservative management was initially pursued; however, due to persistent respiratory failure, invasive interventions were required. The first patient underwent bilateral diaphragmatic plication with favorable outcomes, while the second required tracheostomy due to poor response to non-invasive ventilation with good outcome. These cases highlight the diagnostic and therapeutic challenges of neonatal DP, emphasizing the need for individualized treatment strategies in the absence of standardized guidelines. Early diagnosis and a multidisciplinary approach are crucial to optimize respiratory outcomes and reduce complications from prolonged mechanical ventilation.