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Background/aimPrader-Willi syndrome (PWS) and Angelman syndrome (AS) are rare imprinting disorders caused by the aberrant expression of 15q11.2-q13 imprinted genes. Due to their rarity, data on health outcomes during infancy are limited. This EUROlinkCAT study aimed to investigate major health outcomes of children with these chromosomal disorders.MethodsData of children born in 1995–2014 and diagnosed with PWS (n=150) or AS (n=46), collected by 11 population-based congenital anomaly registries, were linked to local electronic healthcare and mortality databases and analysed.ResultsChildren with PWS had a survival rate of 94% (95% CI 89.5% to 98.7%) by 10 years of age. Nearly all children (99.5%, 95% CI 97.6% to 99.9%) with PWS required hospitalisation during the first year of life with a median length of stay of 25 days; a high proportion continued to need hospital care later in life (93.2% at 1–4 years and 79.6% at 5–9 years) with shorter stays (1.2 and 0.5 days per year, respectively). In comparison, no deaths occurred among children with AS by 10 years of age. Fewer children with AS required hospitalisation in the first year of life (59.0%, 95% CI 39.6% to 74.0%); as they grew older, the proportion admitted was 68% (95% CI 40.0% to 85.0%) at 5–9 years. Children with PWS and AS underwent first surgery at approximately 1.8 years and 2.5 years, respectively.ConclusionsThis study provides valuable evidence for improving family counselling and promoting an adequate healthcare support system.

Yawning is a long neglected behavioral pattern, but it has recently gained an increasing interdisciplinary attention for its theoretical implications as well as for its potential use as a clinical marker, with particular regard to perinatal neurobehavioral assessment. The present study investigated the factors affecting yawning frequencies in hospitalized preterm neonates (N = 58), in order to distinguish the effects of hunger and sleep-related modulations and to examine the possible impact of demographic and clinical variables on yawning frequencies. Results showed that preterm neonates yawned more often before than after feeding, and this modulation was not explained by the amount of time spent in quiet sleep in the two conditions. Moreover, second born twins, known to be more prone to neonatal mortality and morbidity, showed increased yawning rates compared to first born twins. Overall, our results are consistent with the hypothesis that yawning frequencies in preterm neonates are modulated by separate mechanisms, related e.g. to hunger, vigilance and stress. These findings, although preliminary and based only on behavioral data, might indicate that several distinct neuropharmacological pathways that have been found to be involved in yawn modulation in adults are already observable in preterm neonates.

Background: Neonatal hypoxic–ischemic encephalopathy remains a leading cause of neonatal mortality and long-term neurodevelopmental disability worldwide. Despite the widespread adoption of therapeutic hypothermia, a substantial proportion of affected infants experience death or significant neurological impairment. Given their metabolic vulnerability, ketogenic diet strategies and ketone bodies have emerged as potential adjunctive neuroprotective interventions. This scoping review aims to critically evaluate the mechanistic rationale, preclinical evidence, and clinical feasibility of ketogenic approaches. Methods: A scoping review of the literature was conducted, including experimental and clinical studies investigating ketogenic diets, endogenous ketosis, and exogenous ketone supplementation in neonatal hypoxia–ischemia. Evidence was synthesized across mechanistic, preclinical, nutritional, and clinical domains, with particular attention to developmental context, timing of intervention, safety considerations, and translational relevance in the contest of therapeutic hypothermia. Results: Preclinical studies consistently demonstrate that ketone bodies enhance cerebral energy metabolism, support mitochondrial function, reduce excitotoxic signaling, and attenuate oxidative stress and neuroinflammation in the immature brain. Neonatal models show preferential utilization of β-hydroxybutyrate over glucose during hypoxic–ischemic stress, suggesting intrinsic metabolic advantages. Emerging evidence also supports potential long-term effects on epigenetic regulation and white matter development, although direct causal validation in neonatal HIE remains limited. Nutritional studies indicate that carefully monitored enteral and parenteral feeding is feasible in critically ill neonates, identifying a potential window for metabolic interventions. Conclusions: Ketogenic strategies represent a plausible, multimodal approach to targeting the metabolic and inflammatory sequelae of neonatal HIE. While current evidence is insufficient to support clinical implementation, this scoping review provides a hypothesis-generating framework to guide future translational research and the design of carefully controlled clinical trials in neonatal neurocritical care.

Positional plagiocephaly (PP) denotes flattening of the skull that occurs frequently in healthy infants. Aim of this study was to estimate the prevalence of positional plagiocephaly and to identify the risk factors in a cohort of healthy infants in order to help prevention of PP. In a prospective design, all healthy full-term infants, ranging from 8 to 12 weeks of age, who presented at the public immunization clinic in Ferrara, were eligible for the study. After obtaining informed consent, we interviewed the parents and examined the infants using the Argenta’s assessment tool. Of 283 infants examined, 107 (37.8%) were found to have PP at 8–12 weeks of age. In 64.5%, PP was on the right side, 50.5% were male and 15% presented also with brachycephaly. Risk factors significantly associated were lower head circumference, advanced maternal age, Italian compared to African, and supine sleep position, in particular for infants born at 37 weeks, preference for one side of the head. In logistic regression, risk factors significantly associated were lower birth weight, advanced maternal age, and supine sleep position.Conclusions: Positional plagiocephaly is a common issue faced by pediatricians; our results reinforce the need of improving prevention both of sudden infant death and positional plagiocephaly, through uniform messages provided prenatally and postnatally by different health professionals.“What is Known:”•The incidence of positional plagiocephaly varies due to population studied and measuring methods.•Different factors are considered in the literature as being associated to positional plagiocephaly (infant factors, obstetric factors, infant care practices, sociodemographic factors).“What is New:”•This is one of the few European studies quantifying positional plagiocephaly prevalence in a population of unselected healthy infants.•In this study, positional plagiocephaly is confirmed as a common issue, related to some factor (as supine sleep position and positional head prevalence) that should be addressed in pre and postnatal counseling.•The prone sleepers rate in our population highlight the need to improve parental awareness regarding SIDS prevention, in particular in borderline gestational age.

Background Noonan Syndrome (NS) is a rare multisystemic disorder with heterogeneous phenotypic manifestations. The aim of this study was to analyse rates of survival, hospitalisation, surgeries and prescriptions in children born with NS in the first 10 years of life. Methods This is a multi-centre population-based cohort study. Data on 175 liveborn children diagnosed with NS from 11 EUROCAT congenital anomaly registries were linked to healthcare databases. Each registry applied a common data model to standardise data and run common syntax scripts to produce aggregated results which were pooled using random effects meta-analyses. Results Mortality rates were high in the first year of life with 5.4% (95%CI 1.5%-10.1%) of children dying before the age of 1 year with a further 2% dying up to age 5. In the first year, 87.9% (95%CI 75.3%-94.3%) of children were hospitalized and the median Length Of hospital Stay (LOS) was 15.3 days (95%CI 9.3–21.2). After the first year, the proportion of children hospitalized remained higher than 70%, but the LOS decreased to 1.3 days per year. In the first 5 years, 65.2% of children underwent a median of two surgical procedures. The median age at first surgery was 29 weeks. The proportion of children with an antibiotic prescription increased from 53.6% at age 1 to 62.4% yearly until 4 years of age. Conclusions Children with NS have high mortality and morbidity not only in the first year of life but also up to five years of age. This study evaluated the health burden of NS and provided information for clinicians, health-care providers and families.

ObjectiveTo evaluate risk factors for hospital admission and length of stay (LOS) among children with and without congenital anomalies (CAs).DesignA population-based linkage cohort study including 50 353 children with major CAs and 1 259 925 children without CAs from four EUROCAT registry areas in three countries. Data on children born 1995–2014 were linked to hospital discharge databases 1995–2015. HRs and incidence rate ratios estimated risk of admission and LOS for children aged <1 and 1–4 years by birth cohort, gestational age, sex, maternal age, multiple births and maternal education. Estimates were pooled using random effects meta-analysis.ResultsIn children <1 year, twins/triplets with CAs were 34% more likely to be admitted and had over two times the LOS compared with singletons, while twins/triplets without CAs were over two and a half times as likely to be admitted and had six times longer stays. Despite this, a higher proportion of twins/triplets with CAs were admitted compared to those without CAs (91% vs 65%) and had longer LOS (20 days vs 10). Smaller increases in risk of admission or LOS were found in boys, young mothers and low maternal education. Preterm birth was a major risk factor for admission and LOS.ConclusionsWhile the impact of risk factors on hospital admission and LOS was generally greater in children without CAs, a higher proportion of children with CAs were admitted and had longer stays. These findings have implications for health care planning and for counselling parents regarding their child's future healthcare needs.

Background Bronchiolitis is the most frequent lower respiratory tract infection and a leading cause of hospitalization in infants. Our aim was to assess the incidence and characteristics of bronchiolitis requiring hospital admission in an Italian region before and after the SARS-CoV-2 pandemic. Methods This area-based retrospective study analyses 4,396 hospital discharge records (HDR) of children under 1 year of age admitted with a diagnosis of bronchiolitis (ICD9-CM codes 466.11 and 466.19), in Emilia-Romagna (Italy) from January1st, 2018 to December 31th, 2021. Weighted t-testing and Z-testing was carried out. Results in the study period, 2–4% of infants were admitted for bronchiolitis (10% of all admissions under 1 year) and 59% of them were aged less than 90 days. After a significant decrease in 2020, bronchiolitis resurged in 2021, and Respiratory Syncytial Virus (RSV) cases reached 82%. RSV cases were more likely to undergo non-invasive ventilation (NIV), oxygen supplementation and to receive i.v. (intravenous) infusions. There was an overall increasing trend in NIV and oxygen supplementation, and a decreasing trend in chest X-rays. Conclusions This area-based study shows reduced hospital admissions due to bronchiolitis during the SARS-CoV-2 pandemic and a resurgence of RSV infection after the easing of preventive measures. We also provide information on length of stay and need for hospital treatments. These area-based information will be helpful in assessing the impact of future universal prevention measures.

Background Congenital anomalies are the leading cause of perinatal, neonatal and infant mortality in developed countries. Large long-term follow-up studies investigating survival beyond the first year of life in children with rare congenital anomalies are costly and sufficiently large standardized cohorts are difficult to obtain due to the rarity of some anomalies. This study aimed to investigate the survival up to 10 years of age of children born with a rare structural congenital anomaly in the period 1995–2014 in Western Europe. Methods Live births from thirteen EUROCAT (European network for the epidemiological surveillance of congenital anomalies) population-based registries were linked to mortality records. Survival for 12,685 live births with one of the 31 investigated rare structural congenital anomalies (CAs) was estimated at 1 week, 4 weeks and 1, 5 and 10 years of age within each registry and combined across Europe using random effects meta-analyses. Differences between registries were evaluated for the eight rare CAs with at least 500 live births. Results Amongst the investigated CAs, arhinencephaly/holoprosencephaly had the lowest survival at all ages (58.1%, 95% Confidence Interval (CI): 44.3–76.2% at 1 week; 47.4%, CI: 36.4–61.6% at 1 year; 35.6%, CI: 22.2–56.9% at 10 years). Overall, children with rare CAs of the digestive system had the highest survival (> 95% at 1 week, > 84% at 10 years). Most deaths occurred within the first four weeks of life, resulting in a 10-year survival conditional on surviving 4 weeks of over 95% for 17 out of 31 rare CAs. A moderate variability in survival between participating registries was observed for the eight selected rare CAs. Conclusions Pooling standardised data across 13 European CA registries and the linkage to mortality data enabled reliable survival estimates to be obtained at five ages up to ten years. Such estimates are useful for clinical practice and parental counselling.

ObjectivesTo explore the risk of being prescribed/dispensed medications for respiratory symptoms and breathing difficulties in children with and without congenital anomalies.DesignA EUROlinkCAT population-based data linkage cohort study. Data on children with and without congenital anomalies were linked to prescription databases to identify children who did/did not receive antiasthmatic prescriptions. Data were analysed by age, European region, class of antiasthmatic, anomaly, sex, gestational age and birth cohort.SettingChildren born 2000–2014 in six regions within five European countries.Participants60 662 children with congenital anomalies and 1 722 912 reference children up to age 10 years.Primary outcome measureRelative risks (RR) of >1 antiasthmatic prescription in a year, identified using Anatomical Therapeutic Chemical classification codes beginning with R03.ResultsThere were significant differences in the prescribing of antiasthmatics in the six regions. Children with congenital anomalies had a significantly higher risk of being prescribed antiasthmatics (RR 1.41, 95% CI 1.35 to 1.48) compared with reference children. The increased risk was consistent across all regions and all age groups. Children with congenital anomalies were more likely to be prescribed beta-2 agonists (RR 1.71, 95% CI 1.60 to 1.83) and inhaled corticosteroids (RR 1.74, 95% CI 1.61 to 1.87). Children with oesophageal atresia, genetic syndromes and chromosomal anomalies had over twice the risk of being prescribed antiasthmatics compared with reference children. Children with congenital anomalies born <32 weeks gestational age were over twice as likely to be prescribed antiasthmatics than those born at term (RR 2.20, 95% CI 2.10 to 2.30).ConclusionThis study documents the additional burden of respiratory symptoms and breathing difficulties for children with congenital anomalies, particularly those born preterm, compared with children without congenital anomalies in the first 10 years of life. These findings are beneficial to clinicians and healthcare providers as they identify children with greater morbidity associated with respiratory symptoms, as indicated by antiasthmatic prescriptions.

ObjectivesPreterm children are exposed to many medications in neonatal intensive care units, but little is known about the effect of prematurity on medication use throughout infancy and childhood. We examined prescriptions of cardiovascular medication (CVM), antiseizure medication (ASM), antiasthmatic medication and antibiotics issued/dispensed in the first 10 years of life for very and moderately preterm children compared with term.DesignPopulation-based data linkage cohort study linking information from birth records to prescription records.SettingSix registries from five countries in the EUROlinkCAT study.ParticipantsThe study population included 1 722 912 children, of whom 10 820 (0.6%) were very preterm (<32 weeks gestational age (GA)), 92 814 (5.4%) were moderately preterm (32–36 weeks GA), 1 606 643 (93.3%) were born at term (≥37 weeks GA) and 0.7% had missing GA. Children with major or minor congenital anomalies were excluded (including patent ductus arteriosus).Main outcome measuresRelative risk (RR) of receiving a prescription for CVM, ASM, antiasthmatic and antibiotics.ResultsVery preterm children had a higher RR of receiving a prescription for CVM and ASM than preterm children. For all preterm children, the RR of having a CVM prescription was 3.58 (95% CI 2.06 to 6.23); 2.06 (95% CI 1.73 to 2.41) for ASM; 1.13 (95% CI 0.99 to 1.29) for antiasthmatics and 0.96 (95% CI 0.93 to 0.99) for antibiotics in the first year of life. Increased prescription of CVM, ASM and antiasthmatics persisted for all 10 years of follow-up. Although the RR was highest for CVM and ASM, in absolute numbers more children received prescriptions for antibiotics (42.34%, 95% CI 38.81% to 45.91%) and antiasthmatics (28.40%, 95% CI 16.07% to 42.649%) than for CVM (0.18%, 95% CI 0.12% to 0.25%) and ASM (0.16%, 95% CI 0.13% to 0.20%) in the first year of life.ConclusionPreterm children had a higher risk of being prescribed/dispensed CVM, ASM and antiasthmatics up to age 10. This study highlights a need for further research into morbidity beyond age 10.