Frontiers in Pediatrics

Hypospadias, a common congenital anomaly requiring surgical correction, has seen growing research in surgical techniques and outcomes. However, no comprehensive bibliometric or disruption-based analysis exists to map the fields evolution. This study uses bibliometrics and the Disruption Index (DI) to identify key transformational research in hypospadias. A systematic search of five databases (PubMed, Web of Science, ScienceDirect, Scopus, and Dimensions) from January 1990 to December 2023 was conducted, yielding 7,732 articles. After applying inclusion criteria, 200 studies were analyzed. Citation data and DI scores were calculated using OpenCitations. Spearmans rank test assessed correlations between DI and citation metrics. A subgroup analysis identified trends based on the latest hypospadias research priorities. The mean citation count was 72.3 (SD = 43.1) with a mean DI of 0.011 (SD = 0.17). Five studies, focusing on complications, analgesia, and surgical techniques, had the highest DI (1.0). A moderate positive correlation was found between DI and citation rate ({rho} = 0.405, p < 0.001). Subgroup analysis showed most research focused on surgical techniques (30.5%) and etiology (25.8%), while areas like surgical training (2.6%) and innovation (0%) were underrepresented. This study identifies critical gaps in hypospadias research. The DI reveals influential studies that redirect research trajectories. Future work should focus on innovation and translational research to accelerate advancements in hypospadias care.

Background: Extrauterine growth restriction (EUGR) is a common and clinically significant complication among preterm infants, contributing to adverse neurodevelopmental and metabolic outcomes. Early and individualized risk prediction remains challenging. This study aimed to develop and validate an interpretable machine learning model for early prediction of EUGR using routinely available clinical variables, and to implement a user-friendly web-based calculator for clinical use. Methods: We retrospectively analyzed 1,431 preterm infants admitted within 24 hours after birth to our hospital between May 2020 and March 2025. Infants from the Yangpu campus (n=863) formed the training set, and those from the Huangpu campus (n=568) formed the validation set. Early clinical variables available within 48-72 hours were screened using the Boruta algorithm. Logistic regression, XGBoost, random forest, decision tree, and support vector machine models were developed and compared. Model performance was evaluated using area under the curve (AUC), accuracy, sensitivity, specificity, F1 score, and Brier score. SHapley Additive exPlanations (SHAP) were applied to assess global and individual feature contributions, nonlinear effects, and interactions. A web-based calculator was constructed based on the optimal model. Results: Nine variables were identified as important predictors: birth weight, small for gestational age status, gestational age, breastfeeding, multiple gestation, neonatal respiratory distress syndrome, patent ductus arteriosus, maternal hypertension, and maternal group B Streptococcus infection. Among the five models, XGBoost achieved the best performance in the validation set (AUC 0.922, accuracy 0.849, Brier score 0.108). SHAP analysis showed that low birth weight, small for gestational age, maternal group B Streptococcus infection, and patent ductus arteriosus were major risk factors, while breastfeeding was protective. Notable nonlinear and interactive effects were observed, particularly between birth weight and gestational age and between breastfeeding and patent ductus arteriosus. The web-based calculator provides real-time individualized risk estimation and visualized interpretation. Conclusions: An interpretable XGBoost-based model and web calculator were successfully developed and validated for early prediction of EUGR in preterm infants. This tool may support clinicians in identifying high-risk infants and guiding individualized nutritional and clinical management.

Congenital heart disease contributes substantially to chronic morbidity, growth impairment, and repeated healthcare utilization among children. Evidence regarding nutritional burden and outpatient healthcare patterns among pediatric patients with congenital heart disease in Indonesia remains limited. This study aimed to evaluate clinical characteristics, nutritional status, healthcare utilization, and factors associated with malnutrition among pediatric outpatients with congenital heart disease at Adam Malik General Hospital, Indonesia. A retrospective observational study was conducted using medical records of pediatric outpatients treated between January and December 2024. Demographic characteristics, cardiac diagnoses, nutritional status, complications, and outpatient visit history were analyzed. Logistic regression analysis was performed to identify factors associated with malnutrition. A total of 606 pediatric outpatients were included. Non cyanotic congenital heart disease predominated the cohort, with ventricular septal defect representing the most common diagnosis followed by patent ductus arteriosus and atrial septal defect. Nearly half of all patients demonstrated underweight or severe underweight nutritional status, while pulmonary hypertension emerged as the most frequent complication. Younger pediatric age groups and higher cumulative clinical burden independently increased the odds of malnutrition. Children with congenital heart disease at this tertiary referral center carried a substantial nutritional and clinical burden. Early nutritional surveillance and integrated long term outpatient management may improve growth outcomes and reduce chronic disease burden in resource limited settings.

BackgroundHumans and mice display elevated levels of IL-27, an immunosuppressive cytokine shown to increase during neonatal bacterial sepsis and compromise survival. This study explores two hypotheses for regulation of IL-27 expression: 1) decreased DNA methylation in newborns that contributes to increased expression of IL-27 genes; 2) neonatal hormones regulate IL-27 expression through upstream hormone response elements (HREs). MethodsWhole genome methyl-seq analysis of neonatal and adult blood-derived macrophages identified differentially methylated regions (DMRs) at steady-state. Quantitative PCR (qPCR) measured expression of IL-27 genes (IL27p28 and EBI3) in human and murine neonatal macrophages stimulated in vitro with synthetic glucocorticoid or progesterone. Confocal microscopy and chromatin immunoprecipitation (ChIP) of glucocorticoid receptor (GR) assessed translocation into the nucleus and binding to the EBI3 promoter. ResultsThe IL-27p28 promoter contained DMRs that were increased in the neonatal cohort. The analysis did not identify DMRs within the EBI3 promoter. Dexamethasone stimulation increased EBI3 gene expression in human and murine neonatal macrophages. GR localized to the nucleus in response to dexamethasone and was enriched at the EBI3 upstream regulatory region. ConclusionThese data suggest glucocorticoid (GC) signaling increases EBI3 expression. This has importance in the context of antenatal GC administration that may increase IL-27 levels. Impact Statement{blacksquare} Elevated expression of IL-27 in early life impairs the host response to invasive bacterial infection in neonates. {blacksquare}Understanding the regulatory mechanisms contributing to increased IL-27 during the neonatal period is necessary to reduce susceptibility to infection in this vulnerable population. {blacksquare}The methylation status of the IL-27 genes in macrophages from neonatal and adult blood donors does not suggest regulation of differential expression with age. {blacksquare}Glucocorticoids are a signal that can induce EBI3 gene expression in a GR-dependent manner. {blacksquare}Glucocorticoid therapy for premature infants may increase IL-27 expression and promote enhanced susceptibility to infection.

BackgroundIntrauterine inflammation, commonly presenting as chorioamnionitis, is variably linked to preterm birth, neonatal infections and postnatal chronic inflammatory disorders. However, the effects of systemic maternal inflammation on exposed fetuses and offspring are less clear. We previously reported inflammatory responses in murine pups born after brief gestational exposure to experimental maternal inflammation. These findings led us to hypothesize that fetal exposure to maternal inflammation could lead to persistent alterations in postnatal immunity. ObjectiveTo test our hypothesis, we examined immune responses to vaccination, a useful measure of immune status, in young adult offspring with late gestational exposure to maternal LPS. Design/MethodsLate-gestation pregnant dams were treated with LPS or saline. Offspring (LPS-exposed or saline controls) were either immunized with the Tdap vaccine or remained unimmunized (naive mice), and were subsequently infected with Bordetella pertussis. Lung and spleen immune responses were assessed by multi-parameter flow cytometry, protein microarray and RT-PCR. ResultsWe observed that young adult (7 week old) mice exposed to maternal LPS during gestation, vaccinated with TDaP, and subsequently infected with pertussis exhibited lower lung neutrophil but higher CD4+ lymphocyte proportions relative to unexposed controls. In splenic studies, LPS-exposed mice had lower frequencies of CD4+IFN{psi}+ (Th1) and CD4+IL-17+ (Th17) cell populations. In vitro studies of post-vaccination responses to heat-killed B. pertussis showed variable levels of IL-2 and IL-4 in splenic cultures from LPS-exposed vs. control mice. Vaccinated, LPS-exposed mice showed variable splenic Stat3 and NFkb gene expression levels relative to those of naive LPS-exposed mice. ConclusionOur present murine studies show that experimental maternal inflammation during late gestation can alter immune response patterns to secondary challenge in young adult offspring. However, whether such intrauterine inflammatory exposure might also influence protective immune function remains to be determined. Our findings lead us to speculate that fetal exposure to systemic maternal inflammation in humans could have long-term implications for protective immunity.

ObjectiveTo describe the clinical characteristics of term neonates with neonatal bacterial meningitis (NBM) and explore the association between different pathogens and imaging complications, providing clinical evidence for early identification and individualized management. MethodsA retrospective study was conducted on 531 term neonates diagnosed with NBM admitted to the Capital Institute of Pediatrics from 2013 to 2025. Demographics, clinical manifestations, laboratory parameters, etiological results, imaging complications and treatment measures were collected. Patients were divided into favorable/adverse discharge outcome groups and pathogen-positive/negative groups. Statistical analyses were performed using appropriate tests, and Cramers V coefficient was used to analyze the association between pathogens and imaging complications. ResultsO_LIThe most common clinical manifestations were abnormal body temperature (79.85%), altered consciousness (55.18%) and jaundice (46.52%). CSF/blood culture was positive in 133 cases (25.05%), with Escherichia coli (27.07%), group B streptococcus (17.29%) and Staphylococcus species (16.54%) as predominant pathogens. The overall incidence of imaging complications was 22.22%, mainly hydrocephalus (5.84%), subdural effusion (4.90%) and encephalomalacia (2.64%). C_LIO_LIAdverse discharge outcomes occurred in 107 cases (20.15%). Compared with the favorable group, the adverse group had higher incidences of convulsions, altered consciousness, anterior fontanelle bulging, abnormal muscle tone and primitive reflexes (all P<0.001), more obvious laboratory abnormalities (higher CRP, CSF leukocytes and protein, lower CSF glucose, all P<0.05), higher culture positive rates and greater need for adjuvant therapy (all P<0.001). C_LIO_LIPathogen-positive patients had higher imaging complication rates. Gram-negative infections were associated with higher hydrocephalus and subdural effusion rates, while Gram-positive infections had higher brain abscess risk. Specifically, Escherichia coli correlated with hydrocephalus and subdural effusion; group B streptococcus with cerebral infarction and encephalomalacia; LMs with intracranial hemorrhage and brain abscess; negative cultures correlated with no imaging complications (all P<0.05). C_LI ConclusionTerm NBM neonates have non-specific manifestations, mainly abnormal body temperature and altered consciousness. Predominant pathogens areEscherichia coli, group B streptococcus and Staphylococcus species, with hydrocephalus and subdural effusion as common imaging complications. Adverse outcomes are associated with severe symptoms, obvious laboratory abnormalities and higher pathogen positivity. Specific pathogens correlate with distinct imaging complications.

BackgroundCongenital heart defects (CHDs) contribute to approximately 220,000 childhood deaths globally each year, with most occurring in low- and middle-income countries. Despite advances in diagnosis and management, survival remains poor in sub-Saharan Africa due to delayed diagnosis and limited access to specialized care. In Uganda, an estimated 16,000 children are born with CHDs annually, many requiring urgent intervention. Despite this burden, evidence on survival and its determinants in Uganda remains limited. This study aimed to investigate socio-demographic and clinical factors associated with survival among children born with CHDs at the Uganda Heart Institute. MethodsA retrospective cohort study was conducted using electronic patient records of children diagnosed with congenital heart defects at the Uganda Heart Institute between January 2014 and December 2018. Survival analysis was performed using the log-rank test to assess differences across groups, and the Cox proportional hazards regression model was used to identify independent predictors of mortality. ResultsChildren residing in rural areas had a significantly higher hazard of death compared to those in urban areas (HR = 1.33; 95% CI: 1.06-1.66; p = 0.013). Underweight children had more than twice the hazard of death compared to those with normal BMI (HR = 2.07; 95% CI: 1.60-2.69; p < 0.001). Defect severity was significantly associated with survival, with moderate defects showing increased hazard relative to critical defects (HR = 1.98; 95% CI: 1.25-3.13; p = 0.004), while non-critical defects were not statistically significant. Timing of diagnosis was a strong predictor of mortality (HR = 1.67; 95% CI: 1.30-2.14; p < 0.001), indicating that delayed diagnosis increases the risk of death. Oxygen level was not significantly associated with survival. ConclusionSurvival among children with congenital heart defects is significantly influenced by nutritional status, place of residence, defect severity, and timing of diagnosis. Underweight children, those from rural areas, and those diagnosed later have a higher risk of mortality. Early detection and improved nutritional support are essential to enhance survival outcomes. Strengthening early screening programs and improving access to timely diagnosis and specialized care, particularly in rural settings, are critical to reducing mortality.

Self-determination has been assessed as an internal psychological construct. External factors may also affect self-determination, but opportunities to make choices and decisions remain understudied. We developed and evaluated the AASPIRE-Choices and Decisions Scale (AASPIRE-CDS), a new measure of autistic adults opportunities to make choices and decisions, using a community-based participatory approach. We created and refined the AASPIRE-CDS through an iterative process. Data, from the AASPIRE Outcomes Project, included 839 autistic adults participating through direct report, supported direct report, and caregiver report (CR). Exploratory and confirmatory analyses supported a unidimensional structure. Measurement invariance analyses supported configural, metric, and partial scalar invariance across report type without CR, and across living status, with and without CR. The AASPIRE-CDS showed high internal consistency, test-retest reliability, and responsiveness to change over time. Convergent validity analyses showed that higher AASPIRE-CDS scores were associated with greater self-determination and communication fluency, more independent living, and fewer support needs. The AASPIRE-CDS showed weaker (albeit significant) associations with quality of life, overall health, and employment satisfaction than the self-determination measure showed with these variables. This pattern suggests that opportunities for choice-making are related to, but distinct from, commonly used measures of self-determination. Findings support the AASPIRE-CDS as a valid and reliable measure of choice-making opportunities in autistic adults across support needs but suggest caution interpreting CR. They underscore the importance of supporting autistic adults choice-making and evaluating opportunities for choice alongside internal self-determination. Future research should use larger CR samples to examine the validity of caregiver-reported choice-making opportunities.

To provide adequate care to children with acute malnutrition, different management protocols have been in use, including the WHO standard guideline and a simplified protocol. The latter, used in Venezuela since 2020, has adopted three simplifications: 1) Expanded criteria for treatment admission; 2) Use of a single treatment product; 3) Simplified dosage: use of 2 sachets per day to treat SAM cases and 1 sachet per day to address MAM cases, regardless of weight. Our study compares the effectiveness, length of stay and programmatic costs of the simplified protocol and the WHO standard guideline in addressing acute malnutrition in children aged 6-59 months in Venezuela from February to August 2024. A total 229 children were enrolled in a prospective cohort study. Monitoring was continuous up to 16 weeks of treatment, evaluating key indicators including weight gain, recovery time, survival, recovery and default rates, number of sachets of RUTF consumed and implementation costs. Baseline characteristics were similar between cohorts, with most cases being moderate in both the standard (90.9%) and simplified (86.6%) cohorts. Both protocols demonstrated similar anthropometric improvements and recovery trajectories throughout follow-up, with no significant differences (p > 0.05). However, the simplified protocol showed higher recovery rates overall for MAM and SAM (70.1% vs 59.4%, p=0.031), although default rates remained high in both protocols (24.8% in the standard protocol vs. 18.7% in the simplified protocol). The simplified protocol presented reduced costs by 15% ($133 vs $157 per recovered child). These results suggest that the simplified protocol, using a single product and an adapted dosage, is as effective as the standard protocol for treating children with acute malnutrition in Venezuela. The findings support wider implementation of the simplified protocol particularly in resource-limited settings. Further research is needed to optimize protocols and improve adherence to reduce default rates.

ObjectiveTo examine associations of BMI-related polygenic scores (PGSs) with BMI-for-age z-score (BMIz), height-for-age z-score (HAZ), and weight; assess sex-specific effects; and test PGS-by-diet interactions in youth experiencing the double burden of malnutrition. MethodsIn this cross-sectional study of Filipino youth aged 6-19 years, we analyzed genome-wide genotype, anthropometric, and dietary data from two 24-hour recalls. Four ancestry-standardized BMI PGSs were evaluated using linear regression adjusted for age, sex, and ancestry principal components, with platform-specific estimates combined by fixed-effects meta-analysis. ResultsAll four PGSs were positively associated with BMIz ({beta} range: 0.119 - 0.320). The strongest association was observed for the multi-ancestry score PGS005202 ({beta} = 0.320; P = 2.39 x 10-9; {Delta}R2 = 4.98%). No PGS was associated with HAZ. PGS005202 and PGS005279 were associated with higher weight independent of HAZ. A significant PGS000716-by-sex interaction was observed for BMIz (q = 0.034), with an association in boys ({beta} = 0.253; P = 0.002) but not in girls ({beta} = -0.007; P = 0.93). No PGS-by-diet interaction remained significant after multiple-testing correction. ConclusionsBMI-related PGSs were associated with adiposity-related traits, but not linear growth, in Filipino youth. Findings support sex-stratified analyses and further evaluation of ancestry-inclusive PGSs in similar pediatric settings.

Purpose: To assess maternal knowledge of preterm infant care in Gaza and identify clinically actionable education priorities in a resource-constrained neonatal setting. Methods: A cross-sectional survey was conducted among 170 mothers of premature infants admitted to neonatal departments in four government hospitals. A 30-item interviewer-administered questionnaire assessed knowledge across thermoregulation, feeding, phototherapy, and infection and skin care. Bivariate analyses, ordinal logistic regression, adjusted predicted probabilities, and exploratory clinical-priority gap analyses were conducted. Results: Overall knowledge was moderate, with a mean score of 64.1% (SD 22.3). Knowledge was classified as poor in 53 mothers (31.2%), good in 41 (24.1%), and excellent in 76 (44.7%). Knowledge differed across domains (p<0.001), with feeding weakest (53.6%) and infection and skin care strongest (73.8%). Not receiving specialist premature-care antenatal follow-up was independently associated with lower odds of higher knowledge (adjusted OR 0.34, 95% CI 0.15-0.80, p=0.013). Mothers without specialist follow-up also had a higher adjusted probability of poor knowledge than those who received it (37.4% vs 18.1%) and more clinical-priority gaps (IRR 1.28, 95% CI 1.04-1.57, p=0.019). Among the 10 lowest-scoring items, 110 mothers (64.7%) had five or more gaps. Conclusion: Maternal knowledge was uneven, with clinically important gaps in practical care domains. Domain-specific education checklists may strengthen antenatal counselling, bedside teaching, and discharge preparation in similar constrained neonatal settings.

BackgroundEsophageal pressure (Pes) measurement has been used successfully over the past half-century to delineate the respiratory systems physiology and mechanics. However, there is no information about the importance of Pes monitoring in different scenarios. We aimed to assess the importance and frequency of Pes monitoring in different scenarios according to health professionals and its importance in decision-making. MethodCross-sectional study with an international survey. We included healthcare professionals dedicated to patients receiving invasive and non-invasive ventilation without limits of age, gender, experience and seniority in the position or country of residence. We used non-probabilistic snowball sampling. ResultsWe included 152 participants, with 54.61% (83) males. The response rate to the survey questions ranged from 100% to 71.71%. Of the included participants, 91/139 (65.47%) were respiratory therapists, and 31/139 (22.30%) were Physicians. Most participants worked in mixed ICU. 109/121 (90.08%) participants considered Pes monitoring very important or extremely important for teaching or research. Only 32/112 (28.57%) reported using Pes frequently for these proposals. 49/109 (40.50%) participants considered Pes monitoring very important or extremely important during non-invasive ventilatory support. Only 17/112 (15.18%) reported using Pes frequently for these proposals. Regarding MV individualisation in ARDS during total ventilatory support, 94/121 (77.69%) participants considered Pes monitoring very important or extremely important. Only 33/112 (29.46%) reported using Pes frequently in this scenario. 90/121 (74.38%) also considered it very important or extremely important for MV individualisation in obese patients without ARDS, and 108/121 (89.26%) considered it very important or extremely important for MV individualisation in obese patients with ARDS during total ventilatory support. Only 25/112 (22.32%) and 39/112 (34.82%) reported using Pes frequently in these scenarios, respectively. ConclusionsPes monitoring was considered very important or extremely important for most assessed scenarios. Conversely, most participants rarely or never used it, although it changed therapeutic decisions often when implemented.

Background: 48,XXYY syndrome is a rare sex chromosome aneuploidy (SCA) characterized by neurodevelopmental deficits and medical comorbidities. The limited information available in the literature is almost exclusively limited to postnatally diagnosed cases. This study aims to describe the early medical and developmental features of prenatally identified 48,XXYY infants, with comparisons to 47,XYY, 47,XXY cohorts, and typical populations, as well as previously reported postnatally diagnosed 48,XXYY cases. Methods: The eXtraordinarY Babies Study prospectively follows children prenatally identified to be at high risk for SCA with annual medical and neurodevelopmental evaluations. Data presented herein include the prevalence of medical conditions, developmental milestones, developmental and adaptive functioning assessment scores, and therapy utilization in participants confirmed to have 48,XXYY. Comparisons were made between this cohort and the typical population, infants with 47,XYY and 47,XXY also enrolled in the eXtraordinarY Babies Study, and a 2008 cohort of individuals postnatally identified 48,XXYY. Results: Infants with 48,XXYY exhibited a range of early medical features, including high rates of feeding and GI disorders (breastfeeding difficulties, gastroesophageal reflux, and eosinophilic esophagitis), allergic disorders (food allergies and environmental allergies), and hypotonia. Developmental and adaptive functioning scores indicated delays in motor, communication, and social domains, with nearly all infants receiving speech therapy, physical and/or occupational therapy. Comparisons with the 47,XYY and 47,XXY cohorts revealed more medical and developmental challenges in the 48,XXYY group, however there was variability and some overlap with both the general population and sex chromosome trisomy conditions. Additionally, comparison to the 2008 postnatally identified 48,XXYY cohort indicated that while prenatal diagnosis allowed for earlier intervention, developmental outcomes in the first years of life were similar between the two groups. Conclusions: 48,XXYY diagnosed prenatally facilitates early monitoring, anticipatory guidance, and proactive referrals for medical evaluations and intervention, given developmental delays and medical challenges are more common in infancy and early childhood compared to the general population and trisomy SCAs. These findings provide valuable insights for genetic counselors and healthcare providers, emphasizing the spectrum of medical and developmental findings and importance of early and proactive care to support individual outcomes. Prospective study of this prenatally identified cohort will provide important natural history and phenotypic variability in XXYY, as well as identification of predictors of health and developmental outcomes.

PurposeBlood draws have been associated with significant discomfort, especially for individuals with sensory hypersensitivity, as is common in autism. This results in avoidance of medical appointments and creates difficulties for scientific studies recruiting from this population. Touch Activated Phlebotomy (TAP) is a novel capillary blood collection technique that reduces the discomfort of blood draws, and here we aimed to assess its tolerability to autistic adults. Our secondary aim was to assess whether capillary and venous blood provide equivalent measurements of Vitamin B6 concentrations. Methods23 participants (11 autistic: 12 non-autistic) were recruited, and two TAP devices were administered before providing pain ratings. Traditional venipuncture was also carried out in the non-autistic individuals, with the same pain measures reported. Enzyme Linked Immunosorbent Assays (ELISAs) were conducted to quantify concentrations of Vitamin B6. ResultsThe TAP device caused significantly less pain than the traditional venipuncture procedure. Furthermore, TAP pain ratings in autistic individuals did not differ meaningfully from non-autistic individuals. Vitamin B6 concentrations showed minimal bias and good agreement between capillary and venous blood, and high repeatability between repeated capillary samples. No clear difference in Vitamin B6 concentrations was observed between autistic and non-autistic participants. ConclusionTAP is a well-tolerated method of obtaining capillary blood samples from autistic adults for medical and research purposes, and this has the potential to reduce avoidance of medical appointments in this population. Like most analytes tested to date, measurement of Vitamin B6 in capillary blood is a valid and reliable alternative to traditional venous samples.

Background: Apnoea of prematurity is common and may cause desaturation and/or bradycardia. There is marked variability in infants cardiorespiratory responses to apnoea, despite standardised clinical thresholds. Factors influencing apnoea-related cardiorespiratory instability and whether instability can be predicted warrant investigation. Methods: 181,511 apnoeas >5 seconds were identified from continuous physiological recordings from 146 preterm infants <37 weeks postmenstrual age. Cardiorespiratory instability was defined as bradycardia (>30% heart rate reduction) and/or oxygen desaturation (<85%). Mixed-effects models assessed clinical, demographic and dynamic modulators of the relationship between apnoea duration and cardiorespiratory instability. Machine learning (XGBoost) was used to train models to predict apnoea-related cardiorespiratory instability. Results: Longer duration apnoeas were associated with increased instability, although variability was substantial and 3.6% of apnoeas <10 seconds were associated with cardiorespiratory instability, while 61.2% of apnoeas [&ge;]20 seconds were not. Multiple clinical/demographic (postmenstrual and gestational age, sex, weight z-score, and ventilation mode) and dynamic (baseline heart rate, oxygen saturation, and recent apnoea clustering) factors were associated with increased instability risk. Apnoea-related cardiorespiratory instability could be predicted with a balanced test accuracy of 75.8% when incorporating all features, while a model using only clinical/demographic features achieved 66.0%. Conclusions: Multiple factors influence cardiorespiratory responses to apnoea. Predictive modelling may enable personalised apnoea definitions, improving individualised care.

BackgroundPatent ductus arteriosus (PDA) is a common and potentially serious cardiovascular condition in preterm infants, particularly those with low gestational age and birth weight. Its management remains controversial due to variability in screening, diagnostic criteria, and treatment strategies. This study aimed to evaluate risk factors, outcomes, and management strategies for PDA in preterm infants, and to identify predictors of clinical and echocardiographic response to therapy. MethodsWe conducted a retrospective cohort study over a 4-year period (2016-2019) in the neonatal intensive care unit (NICU) of a tertiary care center. All consecutive preterm infants admitted during the study period were eligible. Infants with echocardiographically confirmed PDA who received pharmacological treatment with intravenous paracetamol or ibuprofen were included in the analysis. Missing data were minimal and handled using available-case analysis. Statistical analyses included descriptive statistics, Pearsons chi-square test, and multivariable logistic regression. ResultsAmong 2154 preterm infants admitted to the NICU, 60 were diagnosed with PDA (incidence : 2.8%). The mean gestational age was 29 {+/-} 2.6 weeks, and the median birth weight was 1200 g. Respiratory distress occurred in 95% of cases, mainly due to hyaline membrane disease (86.7%). PDA was symptomatic in 80% of infants. First-line treatment resulted in clinical improvement in 77% and ductal closure in 83.3% of cases, most within 3 days. Predictors of successful closure included gestational age [&ge;] 28 weeks (OR = 5.9; 95% CI : 1.7-20.2) and antenatal corticosteroid exposure (OR = 1.2; 95% CI : 1.0-1.6). Overall mortality was 35% and was significantly higher in infants < 28 weeks (OR = 5.0; 95% CI : 2.4-10.3). Clinical improvement (OR = 3.7) and echocardiographic closure (OR = 4.5) after first-line treatment were associated with reduced mortality. ConclusionsPDA in preterm infants is associated with substantial morbidity and mortality, particularly in those born before 28 weeks of gestation. Early diagnosis, antenatal corticosteroid exposure, and timely pharmacological treatment may improve outcomes. Systematic echocardiographic screening in high-risk neonates should be considered.

Recognizing the challenges faced by primary caregivers regarding the health of children with congenital craniofacial anomalies (CCAs) contributes to strengthening healthcare programs according to patient[s] and families differential needs. This qualitative study presents the experiences of 25 caregivers of children with CCAs from Bogota and Cali, Colombia, identified from care registries and consultation statistics provideed from public high-complexity healthcare institutions. Grounded in Giorgis descriptive phenomenology and employing thematic analysis, this research utilized semi-structured interviews and focus groups to explore the diagnostic process and its impact, experiences with healthcare services, and the caregivers role and daily care activities. Data were analyzed using MAXQDA(R) qualitative software. Findings highlighted the emotional complexity of caring for childre[n]s health. Challenges included late diagnoses, pessimistic views of the children with CCAs condition by healthcare team members; lack of effective support, information, and guidance from health staff; absence of clear care and referral protocols, and limited access to specific adaptations and timely specialized care for children with CCAs. There were also reduced therapeutic services, and a pronounced gendered caregiving burden when responsibilities fall almost exclusively on mothers. System fragmentation, reflected in deficiencies in communication and a lack of clear, coordinated, and timely pathways of care, as well as the absence of adequate psychosocial support for families, emerged as common structural problems in healthcare services in both geographic settings where this research has been conducted. Gender-sensitive strategies focused on alleviating emotional concerns and the burden of caregiving from diagnosis onward within a patient and family-centered care model are decisive. Improving comprehensive CCAs training for healthcare personnel and making adjustments to care pathways are suggested to contribute to the implementation of inclusive health programs that address the diverse needs of children and their families.

Introduction: The Pubertal Development Scale (PDS) is widely used for puberty assessment, yet its psychometric properties and norms are limited to research data. This study examined the psychometric properties of parent- and self-report PDS and established continuous norms in nationally representative samples. Methods: We analyzed two deidentified survey samples: a parent-report sample of children aged 6-18 (N=2000, Mage=11.37, 47.2% female, 74.9% White), and a youth self-report sample aged 12-18 (N=754, Mage=14.33, 49.6% female, 75.3% White). Both samples were representative of the U.S. population on key demographics, and the self-report sample consisted entirely of children whose parents also participated in the parent sample, thus creating parent-child dyads. Internal consistency was evaluated using Cronbach's alpha and McDonald's Omega. Cross-informant agreement was assessed with Intraclass Correlation Coefficient (ICC; two-way model, absolute agreement, single unit) and Bland-Altman plots. Age-dependent norms of each sex were established with Generalized Additive Models for Location, Scale, and Shape (GAMLSS), with 5th-95th percentile curves and reference tables provided. Results: Parent- and self-report PDS demonstrated acceptable-to-good internal consistency (Cronbach's alpha: 0.78-0.89; McDonald's omega: 0.79-0.90). Among the 754 parent-youth dyads, excellent cross-informant agreement was observed for both sexes (ICC(2,1)=0.88). Parents' and children's PDS total scores did not differ significantly for boys; for girls, parents rated pubertal development on average 0.13 points lower than children's self-report. Regardless of informants, PDS scores increased nonlinearly with age and exhibited sex-specific developmental patterns. Girls showed earlier pubertal onset, faster progression, and greater convergence toward pubertal completion by late adolescence. Discussion: The PDS demonstrated strong psychometrics in national samples, supporting its utility in the general pediatric population. The national norms provide empirical benchmarks for PDS score interpretation, strengthening its value as a broad estimation of pubertal status and a pre-screening tool for identifying early or delayed puberty.

BackgroundWell-child visits (WCVs) are essential for preventive care, yet missed appointments often lead to delayed interventions. We developed and validated models to predict next-visit nonattendance using routine electronic health record data. MethodsUsing data from two Chicago-area pediatric practices, Practice A (1,215 patients; 3,654 visits) and Practice B (1,271 patients; 3,044 visits), we compared regularized logistic regression, random forest, and XGBoost models. Predictors included visit context, prior utilization, and patient characteristics. Models were trained on Practice A and validated on Practice B. ResultsMissed-next-visit rates were 16.2%(A) and 20.7%(B). In external validation, performance was similar across models (AUC 0.66-0.68). At the threshold maximizing F1 score, recall ranged from 0.54-0.71. The LASSO logistic regression model identified six key predictors: timepoint, visit delay, prior no-shows, schedule lead time, new patient status, and immunization refusal. SHAP values confirmed these process measures as among the most influential features across all models. ConclusionPredicting WCV nonattendance is feasible using routine data. A simple logistic regression model performs comparably to complex algorithms, offering a practical pathway for clinical integration. By identifying at-risk families during a current appointment, this may enable clinicians to provide proactive support to support preventive care before a lapse occurs. ImpactO_LIMissed well-child visits are common, leading to an increasing number of preventable acute care visits, delayed recognition of developmental delays, and missed opportunities to initiate early intervention C_LIO_LIA multimodal approach is needed to support well-child visit attendance C_LIO_LIMachine learning is an emerging tool to predict well-child visit no show rates with implications for future interventions to support families at risk for missing well-child visits and promote positive health outcomes C_LI

Background: Adult autism services research is hampered by a lack of accessible self-reported outcome measures. The AASPIRE Outcomes Project used a community-based participatory research (CBPR) approach to create and test the AASPIRE Measurement Toolkit, a set of accessible survey instruments for use in real-world settings. The core toolkit contains 12 characteristics modules and 19 outcome measures, each with self-reported and caregiver-reported versions. Methods: In a prior phase of the project, we collaboratively adapted, revised, or co-created all instruments. We used our CBPR-nested Delphi process, our collaborative adaptation/creation process, and cognitive interviews to ensure accessibility and content validity. We then conducted a longitudinal survey to validate the 19 outcome measures in a pragmatic sample of 870 autistic adults from two healthcare systems, two disability service systems, and the larger autistic community in the United States. Participants completed surveys at 3 time points over 12-18 months. A 15% random subset completed an additional retest survey 2 weeks after the second time point. We assessed 1) accessibility using completion rates and perceived ease of use; 2) internal consistency using Cronbach's alphas and omegas; 3) convergent validity using Pearson's correlations; 4) two-week test-retest reliability using interclass correlation coefficients; and 5) six-month responsiveness to change by comparing self-perceived change with change in scores. Results: Over 90% of participants reported the survey items were easy to understand; over 90% of participants who started the survey completed all applicable sections at each time point; and participants answered 99% of items on each instrument. The outcome measures and their pre-determined subscales demonstrated strong accessibility, content validity, internal consistency reliability, test-retest reliability, convergent and discriminant validity, and responsiveness to change. Conclusion: The AASPIRE Measurement Toolkit is accessible and includes 19 outcome measures with strong initial psychometric properties. We will report in-depth assessments of construct and structural validity separately for each measure. All instruments are available for free and can help clinicians, service providers, advocacy organizations, and researchers assess the effectiveness of interventions and follow changes in outcomes over time.