Arthrogryposis, renal dysfunction, cholestasis syndrome with a novel mutation in two siblings.

This current case series adds to the spectrum of Arthrogryposis renal dysfunction cholestasis (ARC)-associated variants. Increased awareness and early genetic testing for ARC are suggested in cases with failure to thrive, renal tubular dysfunction, and rickets, even when the degree of cholestasis is mild. Prompt identification and intervention may improve the quality of life.

Diagnostic and Treatment Practices for Helicobacter Pylori Infection in an Academic Pediatric Hospital.

BACKGROUND: In 2016, ESPGHAN/NASPGHAN issued revised guidelines for the management of Helicobacter pylori (H. pylori) infection in children and adolescents. Recommendations include performing antibiotic susceptibility testing to tailor therapy. The aim of our study was to evaluate the H. pylori treatment landscape in pediatric patients at our institution. METHODS: We performed a retrospective study of patients diagnosed with H. pylori infection at a single academic children's hospital from 2015 to 2021. The frequency of each treatment regimen and their respective eradication rates were calculated. We compared trends in antibiotic prescriptions and eradication rates before and after 2016. RESULTS: One hundred and ninety-six patients were included. Triple therapy with amoxicillin, clarithromycin, and a proton pump inhibiter (PPI) was the most often prescribed regimen (46.5%), followed by amoxicillin, metronidazole, and PPI (33%). Eradication rates were 70% for amoxicillin, clarithromycin, and PPI and 64% for amoxicillin, metronidazole, and PPI. CONCLUSION: Our results show eradication rates for both regimens were comparable but suboptimal, highlighting the need to incorporate resistance testing into broader practice.

Safety and Durability of Accelerated Infliximab Dosing Strategies in Pediatric IBD: A Single Center, Retrospective Study.

OBJECTIVES: Infliximab (IFX) is commonly used to treat children with inflammatory bowel disease (IBD). We previously reported that patients with extensive disease started on IFX at a dose of 10 mg/kg had greater treatment durability at year one. The aim of this follow-up study is to assess the long-term safety and durability of this dosing strategy in pediatric IBD. METHODS: We performed a retrospective single-center study of pediatric IBD patients started on IFX over a 10-year period. RESULTS: Two hundred ninety-one patients were included (mean age = 12.61, 38% female) with a follow-up range of 0.1-9.7 years from IFX induction. One hundred fifty-five (53%) were started at a dose of 10 mg/kg. Only 35 patients (12%) discontinued IFX. The median duration of treatment was 2.9 years. Patients with ulcerative colitis ( P ≤ 0.01) and patients with extensive disease ( P = 0.01) had lower durability, despite a higher starting dose of IFX ( P = 0.03). Adverse events (AEs) were observed to occur at a rate of 234 per 1000 patient-years. Patients with a higher serum IFX trough level (≥20 µg/mL) had a higher rate of AEs ( P = 0.01). Use of combination therapy had no impact on risk of AEs ( P = 0.78). CONCLUSIONS: We observed an excellent IFX treatment durability, with only 12% of patients discontinuing therapy over the observed timeframe. The overall rate of AEs was low, the majority being infusion reactions and dermatologic conditions. Higher IFX dose and serum trough level> 20 µg/mL were associated with higher risk of AEs, the majority being mild and not resulting in cessation of therapy.

The North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition Position on the Role of the Registered Dietitian Nutritionist in the Care of the Pediatric Patient With Chronic Gastrointestinal Diseases.

The optimization of nutrition is essential for the growth and development of all children, including those with gastrointestinal (GI) conditions that can variably affect nutrient intake, absorption, or metabolism. Registered Dietitian Nutritionists (RDNs) are essential partners in delivering high quality care for pediatric GI disorders, but limited evidence is available to support the role of the RDN in the care of these patients. This position paper outlines the evidence supporting the role of the RDN in the management of chronic pediatric GI issues in both inpatient and outpatient settings. Gaps in the literature, opportunities for future research, and barriers to RDN access are discussed.

Nutritional Management of Inflammatory Bowel Disease.

Inflammatory bowel disease (IBD) is a chronic inflammatory disorder of the gastrointestinal tract. Patients with IBD are at risk of malnutrition and growth failure, largely depending upon their disease burden. Growing evidence suggests that diet plays an important role in modulating the intestinal microbiota, gut mucosal barrier and hence the intestinal immune system. Thus, diet is considered a potentially modifiable risk factor in IBD. Over the last decade this has garnered significant interest in nutritional management of IBD. The following review will discuss different dietary interventions in the treatment of IBD, including enteral nutritional therapies and emerging specific diets. Given every patient's unique genetic makeup and microbiome, the optimal therapeutic approach, including the choice of nutritional therapy, should be personalized.

Constipation.

Constipation in otherwise healthy infants and children is a common problem despite confusion about how to precisely define constipation and constipation-related disorders. Constipation may, rarely, be a sign or symptom of a more serious disease or a diagnosis defined only by its symptoms and without any structural or biochemical findings. In the latter case it is classified as a functional gastrointestinal disorder (FGID). FGIDs are defined as disorders that cannot be explained by structural or biochemical findings. The Rome Foundation has standardized diagnostic criteria for all FGIDs. The Rome criteria are based on the available research as well as the clinical experience of the Foundation's assembled experts. The most recent report, Rome IV, described clinical criteria and diagnostic tools and encouraged more rigorous research in the area of FGIDs. The true incidence and prevalence of constipation is difficult to know because it may be treated at home using home remedies or diagnosed at a visit to a primary care provider or to a subspecialist pediatric gastroenterologist. The most recent attempts to define the prevalence of all pediatric FGIDs have been made using the Rome IV criteria. The defined FGID entities that may be associated with the complaint of constipation are infant dyschezia, functional constipation, and nonretentive fecal incontinence. The term encopresis, omitted from Rome IV, is defined by the American Psychiatric Association (APA) in the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition The 3 Rome-defined (constipation-related) entities and the APA entity of encopresis are the focus of this review.

Pediatric Gastroenterology, Hepatology, and Nutrition Entrustable Professional Activities: Development of an Assessment Tool and Curricular Resources.

BACKGROUND: Entrustable professional activities (EPAs) are critical activities performed by medical professionals, which can be observed and assessed. Adding on to common EPAs for all pediatric subspecialty trainees, specialty-specific EPAs for pediatric gastroenterology, hepatology, and nutritional fellowship were developed by the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition (NASPGHAN) EPA Task Force. METHODS: Having developed specialty-specific EPAs, building EPA assessments is the next logical step, as EPAs are included under a larger umbrella of competency-based assessment. Thus, the NASPGHAN EPA Task Force and Training Committee collaborated on an assessment tool and associated curricular resources to aid in tracking trainees' progression to entrustment within individual EPAs and readiness for independent practice. RESULTS: This manuscript reports the development of an EPA assessment tool, including guiding principles and the theory behind the assessment tool, with a focus on simple, meaningful assessments that can provide crucial performance feedback to trainees. In addition, curricular resources were developed, based on the assessment tool, to support training. Ultimately, it is the hope of the NASPGHAN EPA Task Force and Training Committee that this tool can aid training programs in providing formative feedback for trainees, and can be used by training programs and clinical competency committees for summative evaluation.

North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition Position Paper on Entrustable Professional Activities: Development of Pediatric Gastroenterology, Hepatology, and Nutrition Entrustable Professional Activities.

Quality training in pediatric gastroenterology, hepatology, and nutrition is essential for the future of our specialty from advancing the science through research to providing clinical care for children with gastrointestinal, hepatic and nutritional disorders. As educational theory has developed, both the American Board of Pediatrics (ABP) and the Accreditation Council for Graduate Medical Education (ACGME) have commissioned projects to better define training including core competencies, and milestones with the goal of competency-based assessment. Seeking to provide a clinical context for these competencies and milestones, the ABP commissioned a project for each pediatric subspecialty to develop entrustable professional activities (EPA) while at the same time developing EPAs that are common to all pediatric subspecialties. North American Society for Pediatric Gastroenterology, Hepatology, Nutrition (NASPGHAN) commissioned an EPA Task Force to develop the pediatric gastroenterology, hepatology and nutrition EPAs. This document serves as an introduction to EPAs, including their historical background, underlying educational theory, and the process used to develop the pediatric gastroenterology, hepatology and nutrition EPAs in the United States of America.

Biologics Delay Progression of Crohn's Disease, but Not Early Surgery, in Children.

BACKGROUND & AIMS: Up to 30% of patients with Crohn's disease (CD) require surgery within the first 5 years from diagnosis. We investigated the recent risk of bowel surgery in an inception cohort of pediatric patients with CD and whether early use of biologics (tumor necrosis factor antagonists) alters later disease course. METHODS: We collected data from the Pediatric Inflammatory Bowel Disease Collaborative Research Group registry on 1442 children (age, ≤16 y) diagnosed with CD from January 2002 through December 2014. Data were collected at diagnosis, 30 days following diagnosis, and then quarterly and during hospitalizations for up to 12 years. Our primary aim was to determine the 10-year risk for surgery in children with CD. Our secondary aim was to determine whether early use of biologics (<3 mo of diagnosis) affected risk of disease progression. RESULTS: The 10-year risk of first bowel surgery was 26%. The 5-year risk of bowel surgery did not change from 2002 through 2014, and remained between 13% and 14%. Most surgeries occurred within 3 years from diagnosis. The only predictor of surgery was disease behavior at diagnosis. CD with inflammatory behavior had the lowest risk of surgery compared to stricturing disease, penetrating disease, or both. We associated slowing of disease progression to stricturing or penetrating disease (but not surgery) with early use of biologics, but this effect only became evident after 5 years of disease. Our results indicate that biologics slow disease progression over time (hazard ratio, 0.85; 95% CI, 0.76-0.95). CONCLUSIONS: In an analysis of data from a registry of pediatric patients with CD, we found that among those with significant and progressing disease at or shortly after presentation, early surgery is difficult to prevent, even with early use of biologics. Early use of biologics (<3 mo of diagnosis) can delay later disease progression to stricturing and/or penetrating disease, but this affect could become evident only years after initial management decisions are made.

Functional Abdominal Pain and Related Syndromes.

Functional gastrointestinal disorders are very common. They result from dysfunctional interaction in the brain-gut axis. Although the nature is benign, symptoms may be debilitating. The etiology is multifactorial; therefore, the diagnosis should be approached in a bio-psychosocial model. There are no biomarkers to characterize these conditions, but a solid understanding of the pathophysiology allows providers to present these disorders as a positive clinical diagnosis, rather than a diagnosis of exclusion. Effective management entails close collaboration between the medical and mental health providers.

Durability of Infliximab Is Associated With Disease Extent in Children With Inflammatory Bowel Disease.

OBJECTIVES: The aim of the study was to evaluate infliximab (IFX) dosing and treatment durability relative to luminal disease burden in patients with inflammatory bowel disease. METHODS: Records from 98 pediatric patients treated with IFX between 2012 and 2014 were reviewed. Disease extent was classified as "limited," "moderate," or "extensive" based on cumulative assessment of mucosal involvement. Patients started taking standard 5 mg/kg dosing were compared with those initiated taking 10 mg/kg with regard to treatment durability. RESULTS: Overall, 26.4%, 58.3%, and 70% with limited, moderate, or extensive disease, respectively, started taking a standard IFX dose of 5 mg/kg required therapy escalation. Patients with moderate and extensive disease, started taking the 5 mg/kg per dose, showed statistically significant shorter times to escalation than those with limited disease. The percentage of patients remaining on their initial 5 mg/kg per dose at 12 months was 80.1%, 56.9%, and 40.0% for limited, moderate, and extensive disease, respectively. Among patients started taking 10 mg/kg, 100% remained on this dose. All the patients with limited disease who required dose escalation continued on the higher dose at the time of analysis; however, among those with the most extensive disease, 43% failed escalation because of nonresponse or infusion reaction. CONCLUSIONS: Patients with extensive disease started taking 5 mg/kg of IFX were more likely to require dose escalation compared to those with limited or moderate disease. All of the patients with moderate and extensive disease started taking 10 mg/kg of IFX remained on this dose. These results suggest that patients with more extensive disease may benefit from higher initial IFX dosing as it relates to durability of the treatment.

Patterns of medical and developmental comorbidities among children presenting with feeding problems: a latent class analysis.

OBJECTIVE: Children with feeding problems often have multiple co-occurring medical and developmental conditions; however, it is unknown whether patterns of comorbidity exist and whether they relate to important feeding-related health outcomes. The main objective of this study was to examine (1) the relationship between the number of medical and developmental comorbidities and important feeding-related health outcomes; (2) how various comorbidities interact and form empirically derived patterns; and (3) how empirically derived patterns of comorbidity relate to weight status, nutritional variety, and child and parent mealtime behavior problems. METHODS: The medical records of 286 children (mean age = 35.56 months) seen at an outpatient feeding disorders clinic were reviewed. Child weight status, nutritional variety, and child and parent mealtime behavior problems were assessed using standardized measures. The lifetime occurrence of medical and developmental conditions was reliably coded. Empirically derived patterns of comorbidity were generated via latent class analyses. RESULTS: Latent class analyses generated 3 comorbidity patterns: "Behavioral" (58% of cases), "Developmentally Delayed" (37%), and "Autism Spectrum Disorder" (ASD, 5%). The Autism Spectrum Disorder group was found to have less nutritional variety compared to the Behavioral and Developmentally Delayed groups. No differences were found between groups in terms of percent ideal body weight, or severity of child or parent mealtime behavior problems. CONCLUSION: Multiple co-occurring conditions of children with feeding problems were empirically reduced to 3 patterns of comorbidities. Comorbidity patterns were largely unrelated to weight status and child or parent mealtime behavior problems. This suggests that medical and developmental conditions confer general, rather than specific, risk for feeding problems in children.