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A constitutional disease‐causing variant (DCV) in the SMAD4or BMPR1Agenes is present in 40%–60% of patients with juvenile polyposis syndrome (JPS). The aim of this study was to characterize the clinical course and polyp burden in children with DCV‐positive JPS compared to DCV‐negative JPS. Demographic, clinical, genetic, and endoscopic data of children with JPS were compiled from eight international centers in the ESPHGAN/NASPGHAN polyposis working group. A total of 124 children with JPS were included: 69 (56%) DCV‐negative and 55 (44%) DCV‐positive (53% SMAD4and 47% BMPR1A) with a median (interquartile range) follow‐up of 4 (2.8–6.4) years. DCV‐positive children were diagnosed at an older age compared to DCV‐negative children [12 (8–15.7) years vs. 5 (4–7) years, respectively, p< 0.001], had a higher frequency of family history of polyposis syndromes (50.9% vs. 1.4%, p< 0.001), experienced a greater frequency of extraintestinal manifestations (27.3% vs. 5.8%, p< 0.001), and underwent more gastrointestinal surgeries (16.4% vs. 1.4%, p= 0.002). The incidence rate ratio for the development of new colonic polyps was 6.15 (95% confidence interval 3.93–9.63, p< 0.001) in the DCV‐positive group compared to the DCV‐negative group, with an average of 12.2 versus 2 new polyps for every year of follow‐up. There was no difference in the burden of polyps between patients with SMAD4and BMPR1Amutations. This largest international cohort of pediatric JPS revealed that DCV‐positive and DCV‐negative children exhibit distinct clinical phenotype. These findings suggest a potential need of differentiated surveillance strategies based upon mutation status. Juvenile polyposis syndrome (JPS) can be diagnosed based upon identification of a disease‐causing variant (DCV) in the SMAD4or BMPR1Agenes.These variants are identified in up to 40%–60% of the patients and inherited in an autosomal dominant manner.There are limited data regarding phenotypic differences based on the presence or absence of a DCV.Surveillance guidelines for JPS in children fail to differentiate between DCV‐positive and DCV‐negative patients. Juvenile polyposis syndrome (JPS) can be diagnosed based upon identification of a disease‐causing variant (DCV) in the SMAD4or BMPR1Agenes. These variants are identified in up to 40%–60% of the patients and inherited in an autosomal dominant manner. There are limited data regarding phenotypic differences based on the presence or absence of a DCV. Surveillance guidelines for JPS in children fail to differentiate between DCV‐positive and DCV‐negative patients. DCV‐positive and DCV‐negative children exhibit distinct clinical phenotypes.DCV‐positive children have a higher burden of colonic polyps than DCV‐negative children, suggesting the need for surveillance strategies based upon mutation status. DCV‐positive and DCV‐negative children exhibit distinct clinical phenotypes. DCV‐positive children have a higher burden of colonic polyps than DCV‐negative children, suggesting the need for surveillance strategies based upon mutation status.

No study has explored whether availability of endoscopic retrograde cholangiopancreatography (ERCP) is adequate and equitable across US children's hospitals. We hypothesized that ERCP availability and utilization differs by geography and patient factors. Healthcare encounter data from 2009 to 2019 on children with pancreatic and biliary diseases from the Pediatric Health Information System were analyzed. ERCP availability was defined as treatment at a hospital that performed pediatric ERCP during the year of service. From 2009 to 2019, 37,946 children (88,420 encounters) had a potential pancreatic or biliary indication for ERCP; 7066 ERCPs were performed. The commonest pancreatic diagnoses leading to ERCP were chronic (47.2%) and acute pancreatitis (43.2%); biliary diagnoses were calculus (68.3%) and obstruction (14.8%). No ERCP was available for 25.0% of pancreatic encounters and 8.1% of biliary encounters. In multivariable analysis, children with public insurance, rural residence, or of Black race were less likely to have pancreatic ERCP availability; those with rural residence or Asian race were less likely to have biliary ERCP availability. Black children or those with public insurance were less likely to undergo pancreatic ERCP where available. Among encounters for calculus or obstruction, those of Black race or admitted to hospitals in the West were less likely to undergo ERCP when available. One‐in‐four children with pancreatic disorders and one‐in‐12 with biliary disorders may have limited access to ERCP. We identified racial and geographic disparities in availability and utilization of ERCP. Further studies are needed to understand these differences to ensure equitable care. Endoscopic retrograde cholangiopancreatography (ERCP) is effective for treating pancreaticobiliary disorders in children and adolescents.ERCP remains a highly specialized procedure that may not be available to all patients, an issue partly attributable to equity of distribution of pediatric specialists trained to perform ERCP. Endoscopic retrograde cholangiopancreatography (ERCP) is effective for treating pancreaticobiliary disorders in children and adolescents. ERCP remains a highly specialized procedure that may not be available to all patients, an issue partly attributable to equity of distribution of pediatric specialists trained to perform ERCP. A large proportion of children with pancreatic or biliary disorders are admitted to a hospital without in‐house ERCP availability.In hospitals where ERCP is offered, compared to children from other races, Black children are less likely to undergo ERCP for pancreatic diagnoses, and for biliary calculi or obstruction.Children with public insurance are less likely to undergo pancreatic ERCP at centers that perform ERCP. A large proportion of children with pancreatic or biliary disorders are admitted to a hospital without in‐house ERCP availability. In hospitals where ERCP is offered, compared to children from other races, Black children are less likely to undergo ERCP for pancreatic diagnoses, and for biliary calculi or obstruction. Children with public insurance are less likely to undergo pancreatic ERCP at centers that perform ERCP.

Accidental foreign body ingestion (FBI) is a common pediatric referral concern. In contrast, recurrent and intentional FBI (RIFBI) is infrequent and associated with greater endoscopic and surgical intervention in adults. Although pediatric guidelines exist for FBI, the risk and therapeutic implications of RIFBI are not addressed. An anonymous international survey on pediatric gastroenterologist experience with RIFBI was distributed. A 33‐item REDCap© survey was distributed via email to pediatric gastroenterologists identified through mailing and email lists obtained from pediatric gastroenterology professional organizations. During 9−12/2021 we accrued 202 completed surveys. Respondents were from 27 countries and across the career span. Eighty percent reported experience with RIFBI; 74% reported seeing ≤ 3 patients with RIFBI within the past 24 months and 4% reported seeing ≥ 6. Of those who treated RIFBI, 38% reported an average number of annual ingestions per patient was ≥5. Frequent morbidity but not mortality was reported. Half reported adherence to FBI guidelines. Later‐career endoscopists treated RIFBI more aggressively than accidental ingestion. Ninety‐six percent noted that patients with RIFBI had psychiatric comorbidities. Providers at academic medical centers reported referring to behavioral health more than those in other settings. Most gastroenterologists surveyed reported encountering RFBI several times a year and in patients with psychiatric comorbidities. Greater likelihood of adverse outcomes associated with endoscopy was reported. Most reported referral to behavioral health and few had RIFBI management protocols. A broader spectrum of psychologic comorbidities in the pediatric population with RIFBI, notably depression and autism spectrum disorder, were reported. RIFBI in adults is associated with psychiatric comorbidity, increased treatment complications, and high treatment costLittle is known about RIFBI in pediatrics and how intentional ingestion impacts endoscopic management RIFBI in adults is associated with psychiatric comorbidity, increased treatment complications, and high treatment cost Little is known about RIFBI in pediatrics and how intentional ingestion impacts endoscopic management Our international survey suggests that while prevalence of RIFBI in pediatrics is low, reoccurrence is high (e.g., 1/3 respondents reported seeing RIFBI patients presenting with ≥5 ingestions annually)Psychiatric comorbidities, including multiple morbidities, are overwhelmingly present in pediatric RIFBIHigh rates of morbidity are reported in treatment of RIFBICoordinated multidisciplinary care, including behavioral health, may help to reduce recurrence Our international survey suggests that while prevalence of RIFBI in pediatrics is low, reoccurrence is high (e.g., 1/3 respondents reported seeing RIFBI patients presenting with ≥5 ingestions annually) Psychiatric comorbidities, including multiple morbidities, are overwhelmingly present in pediatric RIFBI High rates of morbidity are reported in treatment of RIFBI Coordinated multidisciplinary care, including behavioral health, may help to reduce recurrence

Pediatric neurogastroenterology and motility (PNGM) disorders impose a significant impact on health‐related quality of life and cost of health care in children and adolescents. The detailed understanding of its burden across demographic groups is unknown. The objective of our study is to characterize the demographic and hospitalization trends of patients undergoing PNGM tests. We used Healthcare Cost and Utilization Project (HCUP) Inpatient Database (KID) for years 2003–2016 to perform a trend analysis in US hospitalizations for International Classification of Diseases (ICD)‐9 and ‐10 Clinical Modification (CM)–identified PNGM studies in patients (<18 years of age) with elective admission and a length of stay (LOS) <3 days. The hospitalization rates were analyzed by year, hospital region, facility type, and patient sociodemographic characteristics. Multivariable logistic regression was used to examine factors influencing the receipt of motility studies. There was an overall increase trend in hospitalizations, rates of PNGM studies, and median hospital charges from 2003 to 2016. Patients with private insurance and living in the high‐income zip codes were more likely to receive a PNGM study compared with those with governmental insurance and lower income area. Although the race was not found to influence the receipt of the study, a major difference in the LOS was noted across the regions. There are income‐ and insurance‐based differences in the rates of inpatient PNGM studies. PNGM studies significantly add to health care burden. Standardization of PNGM practices across the country may decrease the LOS and associated expenses. Future analysis should include ambulatory PNGM services to understand combined inpatient and outpatient trends.

Although foreign body ingestion (FBI) is a common pediatric referral concern, intentional or recurrent FBI (RFBI) in youth is poorly defined. In adults, several subgroups of patients with psychiatric comorbidities account for a large portion of FBIs. A similar classification system and corresponding management recommendations are yet to be outlined in pediatrics. We report 3 patients with RFBI: a 16-year-old, African American boy with 22 admissions and 27 endoscopic procedures for FBI removal; a 4-year-old, African American boy with autism spectrum disorder admitted twice after delayed presentation of ingestion of magnets; and a 15-year-old Caucasian girl with a complex mental health history who presented twice after intentional ingestion to self-harm. We also present a literature review of pediatric RFBI. Patients with RFBI require a nuanced, multidisciplinary management approach to address acute concerns and reduce subsequent ingestion. A behavioral taxonomy and treatment considerations are presented.

There are increasing concerns regarding proton pump inhibitor (PPI) use and the risk of fractures in adults. Few studies have evaluated this risk among pediatric patients. This study examined fractures and fracture location among pediatric patients exposed to PPI compared with those without documented exposure. Encounters for patients 6 months to 15.5 years were identified between July 1, 2011 to December 31, 2015 in the Pediatric Hospital Information System database. Exclusion criteria was applied for chronic illnesses, conditions or medications predisposing to fracture. Encounters were classified as PPI encounters if a charge for PPI was documented. PPI encounters were propensity matched to non-PPI encounters. Following initial encounter, patients were evaluated over a 2-year period for hospitalizations resulting from fracture. There was a statistically significant higher rate of fractures among the PPI-exposed group (1.4% vs 1.2%, P?=?0.019). Adjusting for remaining differences in sex, race, encounter type, payer, and resource intensity after matching, the difference remained statistically significant (P?=?0.017) with an adjusted odds ratio (95% CI) of 1.2 (1.0--1.4). Upper extremity was the most common location for fracture; however, the PPI cohort was more likely to suffer from lower extremity, rib, and spinal fractures (P?=?0.01). This study suggests an increased risk of fracture among pediatric patients taking PPI. Among patients hospitalized with a fracture, those with PPI exposure had a higher rate of lower extremity, rib, and spine fractures compared with controls. This appeared to be a class effect not related to individual PPI agent.

Juvenile polyps (JPs) are the most common gastrointestinal polyps diagnosed in children. There is paucity of evidence differentiating polyp burden groups and the presence and significance of neoplastic changes. A retrospective chart review of patients, ages birth through 18 years with nonsyndromic JPs was performed from 2003 to 2017. Abstracted data included basic demographics, age, clinical presentation, colonoscopy findings, and pathology report. Slides of polyps with neoplasia were reviewed by a pathologist. A total of 213 subjects underwent 326 procedures and 435 polypectomies. Subjects with positive family history, positive gene mutations, or numerous (>10) polyps were excluded. Groups were defined by polyp number (1, 2–4, 5–10). Polyp recurrence on repeat colonoscopy was significantly related to polyp burden (1 polyp: 1.5%/2–4 polyps 19.2%/5–10 polyps 82.6%: P< 0.001). Polyp distribution was significantly different amongst different groups with isolated polyps favoring a distal distribution. JPs harboring adenomatous foci were reported in 26 (12%) patients. JPs harboring adenomatous foci were significantly more likely to be proximally distributed but the presence of adenomatous transformation within the polyps did not correlate with polyp number or the likelihood of polyp recurrence on repeat colonoscopy. JP recurrence is positively and significantly related to polyp burden. JP harbored adenomatous changes independent of polyp number, underscoring a possible malignant potential in JPs. In the absence of a consistent genotype or pedigree, the presence of adenomatous transformation within JPs cannot be construed as a biomarker for syndromic juvenile polyposis.

Peutz-Jeghers syndrome (PJS) is a well-described inherited syndrome, characterized by the development of gastrointestinal polyps, and characteristic mucocutaneous freckling. Development of small bowel intestinal polyps may lead to intussusception in children may require emergency laparotomy with potential loss of bowel. Gastrointestinal polyps may lead to bleeding and anemia. This European Society for Paediatric Gastroenterology Hepatology and Nutrition position paper provides a guide for diagnosis, assessment, and management of PJS in children and adolescents and guidance on avoiding complications from PJS or from the endoscopic procedures performed on these patients. This is the first position paper regarding PJS published by European Society for Paediatric Gastroenterology Hepatology and Nutrition. Literature from PubMed, Medline, and Embase was reviewed and in the absence of evidence, recommendations reflect the opinion of pediatric and adult experts involved in the care of polyposis syndromes. Because many of the studies that form the basis for the recommendations were descriptive and/or retrospective in nature, some of the recommendations are based on expert opinion. This position paper will be helpful in the appropriate management and timing of procedures in children and adolescents with PJS.

Familial adenomatous polyposis (FAP) is a well-described inherited syndrome, characterized by the development of hundreds to thousands of adenomas in the colorectum, with implications in children and adolescents. Almost all adult patients will develop colorectal cancer if they are not identified and treated early enough. Identifying and screening for FAP commences in adolescence. The syndrome is inherited as an autosomal dominant trait and caused by mutations in the adenomatous polyposis (APC) gene. This European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) position paper provides a guide for diagnosis, assessment, and management of FAP in children and adolescents. This is the first position paper regarding FAP published by ESPGHAN. Literature from PubMed, Medline, and Embase was reviewed and in the absence of evidence, recommendations reflect the opinion of paediatric and adult experts involved in the care of polyposis syndromes. Because many of the studies that form the basis for the recommendations were descriptive and/or retrospective in nature, these of the recommendations are supported on expert opinion. This position paper will instruct on the appropriate management and timing of procedures in children and adolescents with FAP.

The European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) Polyposis Working Group developed recommendations to assist clinicians and health care providers with appropriate management of patients with juvenile polyposis. This is the first juvenile polyposis Position Paper published by ESPGHAN with invited experts. Many of the published studies were descriptive and/or retrospective in nature, consequently after incorporating a modified version of the GRADE system many of the recommendations are based on expert opinion. This ESPGHAN Position Paper provides a guide for diagnosis, assessment, and management of juvenile polyposis syndrome in children and adolescents, and will be helpful in the appropriate management and timing of procedures in children and adolescents. The formation of international collaboration and consortia is proposed to monitor patients prospectively to advance our understanding of juvenile polyposis conditions.

The present study aims to identify the genotype-phenotype correlation in children with Peutz-Jeghers Syndrome (PJS) through the analysis of STK11gene mutations in the context of clinical and pathological characteristics. In this observational cohort study, the clinical characteristics of 18 families diagnosed with pediatric PJS were collected. Genomic DNA from the peripheral blood of affected children and their family members was collected. The coding region of STK11was amplified by PCR and screened for mutation by Sanger sequencing. The families that were negative for STK11mutation were further assessed by multiplex ligation-dependent probe amplification (MLPA). Initial presentation in affected children was at 1.6 to 14.2 years and included anemia in 8 patients whereas 6 presented for screening by virtue of family history. All patients underwent endoscopy, colonoscopy, and polypectomy. Polyps were distributed throughout the gastrointestinal (GI) tract, including the small intestine, stomach, colon, and rectum. In the 18 pediatric PJS families, STK11mutations were detected in 8 families by Sanger sequencing, and large deletions were detected in 3 by MLPA, respectively. Nine of the 11 STK11mutations were de novo, 3 were novel (c.419T>C:p.L140P, c.314T>G:p.L105X), and (c.488_489insACGG p.L164fs). Although the main clinical features of pediatric PJS were similar to those of PJS cases in adults, a high frequency of STK11de novo mutations were encountered in our population of patients with PJS.

Sizable small-bowel (SB) polyps in Peutz-Jeghers syndrome (PJS) pose a high risk for intussusception, often necessitating laparotomy and intraoperative enteroscopy. This series examines the effectiveness of double-balloon enteroscopy (DBE) facilitated polypectomy for pediatric patients with PJS. Prospective analysis of collected data (6 years) on all patients with PJS referred for DBE-facilitated SB polypectomy at a pediatric tertiary-referral center. A total of 16 pediatric patients with PJS were referred for DBE-facilitated SB polypectomy. Twenty-two DBEs were performed. Large polyps (=1 cm) were confirmed in 14 patients. Successful clearance of large SB polyps by DBE or laparoscopically assisted DBE (Lap-DBE) was achieved in all patients. One patient experienced post-Lap-DBE pelvic abscess. All other patients remained asymptomatic and intervention free throughout follow-up (median 26 months). This series demonstrates that DBE-facilitated polypectomy is an effective therapeutic option in pediatric patients with PJS. It should be considered at an early age where possible.

A multicenter, double-blind study was conducted to evaluate the safety, efficacy, and pharmacokinetics of balsalazide in pediatric patients with mild-to-moderate ulcerative colitis (UC). Sixty-eight patients, 5 to 17 years of age, with mild-to-moderate active UC based on the modified Sutherland UC activity index (MUCAI) were randomized to receive oral balsalazide 2.25 or 6.75 g/day for 8 weeks. The primary endpoint was clinical improvement (reduction of the MUCAI score by =3 points from baseline). Clinical remission (MUCAI score of 0 or 1 for stool frequency) and histological improvement after 8 weeks were also assessed. Pharmacokinetic parameters for balsalazide, 5-aminosalicylic acid, and N-acetyl-5-aminosalicylic acid were determined at 2 weeks. Adverse events and laboratory changes were monitored throughout the study. Clinical improvement was achieved by 45% and 37% of patients and clinical remission by 12% and 9% of patients receiving 6.75 and 2.25 g/day, respectively. Improvement in histologic grade was achieved by 8 of 16 (50%) and 3 of 10 (30%) patients receiving 6.75 and 2.25 g/day, respectively. No significant differences were seen in efficacy. Pharmacokinetics in 12 patients were characterized by large interpatient variability and low systemic exposure. Adverse events were similar between the treatment groups, the most common being headache and abdominal pain. No clinically significant changes were observed in laboratory values, including those indicative of hepatic or renal toxicity. Balsalazide is well tolerated and improves the signs and symptoms of mild-to-moderate active UC in pediatric patients 5 to 17 years of age.

A multicenter, double-blind study was conducted to evaluate the safety, efficacy, and pharmacokinetics of balsalazide in pediatric patients with mild-to-moderate ulcerative colitis (UC).

The aim of this retrospective study was to determine the prevalence, clinical presentation, and histologic subclassification of duodenal polyps identified on endoscopy (EGD) in pediatric patients. We performed an 18-year retrospective study of all pediatric patients (< 21 years) with duodenal polyps diagnosed between 1983 and 2001 at The Johns Hopkins Children's Center. Our analysis includes a formal histologic evaluation of duodenal polyps either biopsied using cold-forceps or removed by snare cautery. Duodenal polyps were reported in 22 of 5766 EGDs (0.4%) performed in 16 (M:F; 1:1) patients with a mean (SD) age of 14.1 (5.1) years. Polyps were equal in both the Caucasian and African American population (adjusted ratio 1.2:1). The histologic subtypes included Adenomatous (42%), Brunner's gland hyperplastic (33%), hamartomatous (17%), and heterotopic gastric gland polyps (8%). The most frequent indication for EGD was surveillance in patients with polyposis syndromes; most of these patients were asymptomatic at the time of their EGD. In comparison, the most frequent indication for an EGD in patients without polyposis syndromes was abdominal pain and vomiting. Duodenal polyps are most frequently encountered in children with polyposis syndromes, most of whom are asymptomatic. In nonsyndromic patients, the most common histologic subtype is Brunner's gland hyperplastic polyp and presenting symptoms include abdominal pain and vomiting.

The aim of this retrospective study was to determine the prevalence, clinical presentation, and histologic subclassification of duodenal polyps identified on endoscopy (EGD) in pediatric patients.

Consensuses on fellowship training in wireless capsule endoscopy (WCE) interpretation have been published for adult gastroenterology (GI) but not in pediatric GI training. A questionnaire has been sent to 64 pediatric and 45 adult GI fellowship programs to compare their present training approach. Adult GI programs reported having a formal GI capsule endoscopy module in 38% and required to attend hands-on course in 27% as compared with 4% and 8% in pediatric programs, respectively. A more formalized approach to WCE training may be required for credentialing pediatric trainees to be aligned with expectations in adult GI programs.