Background and AimsAn expanding number of monogenic defects have been identified as causative of severe forms of very early-onset inflammatory bowel diseases [VEO-IBD]. The present study aimed at defining how next-generation sequencing [NGS] methods can be used to improve identification of known molecular diagnosis and to adapt treatment.MethodsA total of 207 children were recruited in 45 paediatric centres through an international collaborative network [ESPGHAN GENIUS working group] with a clinical presentation of severe VEO-IBD [n = 185] or an anamnesis suggestive of a monogenic disorder [n = 22]. Patients were divided at inclusion into three phenotypic subsets: predominantly small bowel inflammation, colitis with perianal lesions, and colitis only. Methods to obtain molecular diagnosis included functional tests followed by specific Sanger sequencing, custom-made targeted NGS, and in selected cases whole exome sequencing [WES] of parents-child trios. Genetic findings were validated clinically and/or functionally.ResultsMolecular diagnosis was achieved in 66/207 children [32%]: 61% with small bowel inflammation, 39% with colitis and perianal lesions, and 18% with colitis only. Targeted NGS pinpointed gene mutations causative of atypical presentations, and identified large exonic copy number variations previously missed by WES.ConclusionsOur results lead us to propose an optimised diagnostic strategy to identify known monogenic causes of severe IBD.

Objectives: Recommendations for diagnosing and treating eosinophilic esophagitis (EoE) are evolving; however, information on real world clinical practice is lacking. To assess the practices of pediatric gastroenterologists diagnosing and treating EoE and to identify the triggering allergens in European children. Methods: Retrospective anonymized data were collected from 26 European pediatric gastroenterology centers in 13 countries. Inclusion criteria were: Patients diagnosis with EoE, completed investigations prescribed by the treating physician, and were on stable medical or dietary interventions. Results: In total, 410 patients diagnosed between December 1999 and June 2016 were analyzed, 76.3% boys. The time from symptoms to diagnosis was 12 ± 33.5 months and age at diagnosis was 8.9 ± 4.75 years. The most frequent indications for endoscopy were: dysphagia (38%), gastroesophageal reflux (31.2%), bolus impaction (24.4%), and failure to thrive (10.5%). Approximately 70.3% had failed proton pump inhibitor treatment. The foods found to be causative of EoE by elimination and rechallenge were milk (42%), egg (21.5%), wheat/gluten (10.9%), and peanut (9.9%). Elimination diets were used exclusively in 154 of 410 (37.5%), topical steroids without elimination diets in 52 of 410 (12.6%), both diet and steroids in 183 of 410 (44.6%), systemic steroids in 22 of 410 (5.3%), and esophageal dilation in 7 of 410 (1.7%). Patient refusal, shortage of endoscopy time, and reluctance to perform multiple endoscopies per patient were noted as factors justifying deviation from guidelines. Conclusions: In this “real world” pediatric European cohort, milk and egg were the most common allergens triggering EoE. Although high-dose proton pump inhibitor trials have increased, attempted PPI treatment is not universal.

Background and Objectives: There is evidence that eating meals or snacks while watching TV is an obesogenic factor. Moreover, the patterns of TV and other screen use during meals begin early and persist. However, there are only a few studies to date which address the prevalence and predictors of young children’s exposure to screen during mealtimes. Thus, the present study aimed to investigate the prevalence and the associated factors of screen use during meals in early childhood. Materials and Methods: A cross sectional survey was conducted in Lithuania. Data of 847 children aged 2 to 5 years old (51.5% boys) were analyzed in this study. Parents completed the Child Behavior Checklist (CBCL/1½-5) and reported their children’s daily screen time, exposure to background TV, screen use during child’s meals, child and parental height and weight, and sociodemographic data. Results: More than half of children were exposed to screen during meals: 33.7% occasionally, several times per week or per month, and 22%—daily or during every meal. Overall daily screen time, background TV, consumption of junk food, child age, and emotional and behavioral problems were related to mealtime screen use (all associations significant at p < 0.01). Longer daily screen time (OR 1.01; 95% CI 1.00–1.01), more background TV (OR 1.26; 95% CI 1.10–1.45), and elder child age (OR 1.02; 95% CI 1.00–1.03) were significant predictors of occasional use of screen during meals. Also, longer daily screen time (OR 0.99; 95% CI 0.98–0.99), background TV (OR 0.78; 95% CI 0.66–0.91) together with no siblings’ status of a child (OR 0.42; 95% CI 0.25–0.69) increased the probability that children were fed in front of screens daily. Conclusions: This study confirmed the unfavorable associations among screen use during meals, daily screen time and junk food consumption in early childhood. In addition, first-time parents should get particular health providers’ attention as they are more likely to use screens during child’s mealtime.

As a result of the outbreak of SARS-CoV-2 and consequent restrictions in spring 2020, children in many countries might be engaged in more sedentary behavior and have limited possibilities to access the necessary level of physical activity to maintain their physical and mental health. The aim of this study was to explore the relationships between child sedentary behavior, physical activity, mental and physical health, and parental distress in a sample of Lithuanian children aged 6–14 years during the COVID-19 pandemic lockdown in March–June 2020. Parents of 306 children (52.9% female) completed an online survey in May–June 2020 and reported on their children’s screen time for educational and recreational (leisure) purposes, the level of physical activity and time outdoors, somatic symptoms, and emotional well-being and behavior. Parents also reported on stressful life events in the family and personal distress. The results revealed that 57.5% of children exceeded the recommended maximum of 2 h of recreational screen time per day, and 33.6% of the children did not meet the recommended guidelines of 60 min of physical activity per day. Longer screen time for educational purposes and parental distress significantly predicted a higher prevalence of somatic symptoms in children and parental distress also served as a significant predictor of children’s decreased emotional well-being and behavior. These results highlight the importance of psychosocial support interventions for parents who experience distress when raising children at a stressful time, such as during a pandemic.

The overall results of our survey show that the majority of pediatricians are unaware of 2009 North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition-European Society for Pediatric Gastroenterology, Hepatology, and Nutrition reflux guidelines and often prescribe PPIs despite a lack of efficacy for the symptoms being treated. The overdiagnosis of gastroesophageal reflux disease places undue burden on both families and national health systems, which has not been affected by the publication of international guidelines.