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OBJECTIVE:The SI gene encodes the sucrase-isomaltase enzyme, a disaccharidase expressed in the intestinal brush border. Hypomorphic SI variants cause recessive congenital sucrase-isomaltase deficiency (CSID) and related gastrointestinal (GI) symptoms. Among children presenting with chronic, idiopathic loose stools, we assessed the prevalence of CSID-associated SI variants relative to the general population and the relative GI symptom burden associated with SI genotype within the study population. METHODS:A prospective study conducted at 18 centers enrolled 308 non-Hispanic white children ≤18 years old who were experiencing chronic, idiopathic, loose stools at least once per week for >4 weeks. Data on demographics, GI symptoms, and genotyping for 37 SI hypomorphic variants were collected. Race/ethnicity-matched SI data from the Exome Aggregation Consortium (ExAC) database was used as the general population reference. RESULTS:Compared with the general population, the cumulative prevalence of hypomorphic SI variants was significantly higher in the study population (4.5% vs. 1.3%, P < .01; OR = 3.5 [95% CI: 6.1, 2.0]). Within the study population, children with a hypomorphic SI variant had a more severe GI symptom burden than those without, including: more frequent episodes of loose stools (P < .01), higher overall stool frequency (P < .01), looser stool form (P = .01) and increased flatulence (P = .02). CONCLUSION:Non-Hispanic white children with chronic idiopathic loose stools have a higher prevalence of CSID-associated hypomorphic SI variants than the general population. The GI symptom burden was greater among the study subjects with a hypomorphic SI variant than those without hypomorphic SI variants.

Background Children with inflammatory bowel disease [IBD] are disproportionally affected by recurrent Clostridioides difficile infection [rCDI]. Although faecal microbiota transplantation [FMT] has been used with good efficacy in adults with IBD, little is known about outcomes associated with FMT in paediatric IBD. Methods We performed a retrospective review of FMT at 20 paediatric centres in the USA from March 2012 to March 2020. Children with and without IBD were compared with determined differences in the efficacy of FMT for rCDI. In addition, children with IBD with and without a successful outcome were compared with determined predictors of success. Safety data and IBD-specific outcomes were obtained. Results A total of 396 paediatric patients, including 148 with IBD, were included. Children with IBD were no less likely to have a successful first FMT then the non-IBD affected cohort [76% vs 81%, p = 0.17]. Among children with IBD, patients were more likely to have a successful FMT if they received FMT with fresh stool [ p = 0.03], were without diarrhoea prior to FMT [ p = 0.03], or had a shorter time from rCDI diagnosis until FMT [ p = 0.04]. Children with a failed FMT were more likely to have clinically active IBD post-FMT [ p = 0.002] and 19 [13%] patients had an IBD-related hospitalisation in the 3-month follow-up. Conclusions Based on the findings from this large US multicentre cohort, the efficacy of FMT for the treatment of rCDI did not differ in children with IBD. Failed FMT among children with IBD was possibly related to the presence of clinically active IBD. [ABSTRACT FROM AUTHOR]

Background: The primary aim of our study was to determine provider variation in diagnostic yield in a pediatric endoscopy center. Secondary aims were to examine ileal intubation rates as well as procedural complications at the provider level. Methods: A retrospective review of sequential pediatric patients who underwent a colonoscopy, completed by June 2018, determined the rates of endoscopically abnormal (EA) and isolated histologically abnormal (IHA) colonoscopies; the overall diagnostic yield was the combination of EA and IHA. Results: In total, 374 charts were reviewed. This study found high variability in diagnostic yield among the 16 clinicians ranging from as low as 22% to as high as 86% (p = 0.11) with an overall diagnostic yield of 48% for colonoscopy; excluding follow-up colonoscopies, the diagnostic yield was 42%. Abnormal calprotectin and abnormal blood tests were associated with higher diagnostic yields of 83 and 65%, respectively, compared with symptoms such as abdominal pain, diarrhea, and rectal bleeding which had yields of 39, 43, and 61%. Ileal intubation rates averaged 90% (range -63–100%, p = 0.06). In patients with a normal colon, there were 21 (6%) patients with an EA ileum and an additional 16 (4%) with an IHA ileum. Prep quality was rated excellent, good, or average in 97%. In addition, there was a low rate of serious complications (1 of 374). Conclusions: This study highlights the individual variability in diagnostic yield and ileal intubation rates in a pediatric gastroenterology practice. Goals for pediatric endoscopy could include ileal intubation rates of >90% and provider diagnostic yields of >40%. [ABSTRACT FROM AUTHOR]

Background. Fecal Microbiota Transplantation (FMT) is an innovative means of treating recurrent Clostridium difficile infection (rCDI), through restoration of gut floral balance. However, there is a lack of data concerning the efficacy of FMT and its impact on the gut microbiome among pediatric patients. This study analyzes clinical outcomes and microbial community composition among 15 pediatric patients treated for rCDI via FMT. Methods. This is a prospective, observational, pilot study of 15 children ≤18 years, who presented for rCDI and who met inclusion criteria for FMT at a pediatric hospital and pediatric gastroenterology clinic. Past medical history and demographics were recorded at enrollment and subsequent follow-up. Specimens of the donors’ and the patients’ pre-FMT and post-FMT fecal specimen were collected and used to assess microbiome composition via 16S rRNA gene sequencing. Results. FMT successfully prevented rCDI episodes for minimum of 3 months post-FMT in all patients, with no major adverse effects. Three patients reported continued GI bleeding; however, all three also had underlying Inflammatory Bowel Disease (IBD). Our analyses confirm a significant difference between pre-and post-FMT gut microbiome profiles (Shannon diversity index), whereas no significant difference was observed between post-FMT and donor microbiome profiles. At the phyla level, post-FMT profiles showed significantly increased levels of Bacteroidetes and significantly decreased levels of Proteobacteria. Subjects with underlying IBD showed no difference in their pre-and post-FMT profiles. Conclusion. The low rate of recurrence or re-infection by C. difficile, coupled with minimal adverse effects post-FMT, suggests that FMT is a viable therapeutic means to treat pediatric rCDI. Post-FMT microbiomes are different from pre-FMT microbiomes, and similar to those of healthy donors, suggesting successful establishment of a healthier microbiome. [ABSTRACT FROM AUTHOR]

Adolescents and young adults (AYA) with inflammatory bowel diseases (IBD) are at risk for nonadherence. This study described AYA adherence barriers and correlates of barriers. 77 AYA-parent dyads completed measures of adherence barriers. Disease frustration barriers were the most commonly endorsed barriers among AYA and parents. Females, those with Crohn’s disease, and those with active disease displayed higher levels of selected variables. AYA with IBD experience unique adherence barriers. Routine screening for barriers, especially disease frustration barriers, is warranted. Adherence-promotion interventions should be tailored to AYA’s unique experience and should emphasize disease and regimen frustration. [ABSTRACT FROM AUTHOR]

This study evaluated and compared three different factor structures of the Pediatric Symptom Checklist (PSC) in a gastroenterology (GI) and a general pediatrics (GP) sample. Parents of GP (n = 169) and GI (n = 177) patients completed the PSC. Each structure includes internalizing, externalizing, and attention problems. Only one structure includes school problems. Hierarchical regression analyses revealed higher internalizing symptoms for GI patients across factor structures. The relationship between internalizing symptoms and age was moderated by group. The PSC seems sensitive to internalizing difficulties in GI patients regardless of factor structure. Older pediatric GI patients may be at increased risk for internalizing symptoms. [ABSTRACT FROM AUTHOR]