Lack of standardization and faculty development in pediatric colonoscopy: A qualitative study.

A standard curriculum for pediatric colonoscopy training has neither been required nor universally implemented in North American fellowship programs. This qualitative study assessed the needs of colonoscopy training in pediatric gastroenterology to determine the standardized components of procedural teaching. Focus groups with pediatric gastroenterology attendings, fellows, procedural nurses, and interviews with advanced endoscopists, all practicing at a single institution, were conducted between March and June 2018. Data were analyzed using thematic analysis principles. Four themes emerged: (1) lack of standardization of colonoscopy performance, (2) lack of professional development of procedure teaching skills, (3) need for teaching behaviors that promote learner's performance, and (4) barriers to effective teaching and learning. A conceptual framework was created for developing a standardized "train-the-trainer" curriculum. Our needs assessment supports expansion of efforts to make this comprehensive training available to all pediatric gastroenterologists involved in procedure teaching.

Interprofessional provider educational needs and preferences regarding the provision of sexual and reproductive health care in cystic fibrosis.

BACKGROUND: Sexual and reproductive health (SRH) is an important disease-specific concern for adolescent and young adult (AYA) women that is not consistently addressed in cystic fibrosis (CF) centers. This study identifies educational needs and preferences of interprofessional CF providers regarding SRH in AYA women with CF. METHODS: Interprofessional CF providers participated in an anonymous survey regarding general and CF-specific SRH knowledge and skills, factors for optimizing SRH care, and preferred approaches for SRH training. We calculated descriptive statistics for all respondents and stratified by provider type. RESULTS: A total of 523 providers completed the survey (39% physicians/advanced practice providers, 19% nurses, 20% social workers, and 22% other disciplines). Half reported comfort responding to female AYA SRH concerns; however, only one-third were comfortable asking appropriate questions and confident taking a sexual history. Only 29% were comfortable with their current CF-specific SRH knowledge. Respondents' preferred SRH topics for further training included: pregnancy/parenthood planning, sexual functioning, urinary incontinence, intimate partner violence, and taking a sexual history. Nearly two-thirds felt having connection to women's health specialists familiar with CF would facilitate SRH care. Approximately one-third desired SRH educational materials for providers to view at point-of-care or through online case-based learning; <10% were interested in role playing SRH skills. CONCLUSION: Many interprofessional CF providers lack comfort and skills in addressing SRH with AYA women with CF. Provider training needs and approaches identified in this study can be used to develop tailored educational interventions to improve comprehensive CF care.

Lack of Follow-up of Pediatric Patients With Celiac Disease.

Celiac disease (CD) is often diagnosed in childhood, and the treatment is a lifelong gluten-free diet (GFD).1,2 It may take several years to gain competence in the skills required to follow a GFD successfully. Inadequately treated CD is associated with bone fractures, nutritional deficiencies, and lymphoma.3,4 Healthcare providers are key resources for patients with CD. Consultation with a dietitian with GFD expertise at diagnosis and annual disease-specific follow-up care are recommended.2,5 The primary objective of this study was to evaluate adherence to guidelines for dietitian consultation and follow-up for children with CD. A secondary objective was to identify factors associated with loss to follow-up.

Red Spot Lesions in the Duodenal Bulb Are a Highly Specific Endoscopic Sign of Celiac Disease: A Prospective Study.

We have recognized red spot lesions (RSLs) in the duodenal bulb in children with celiac disease (CD) and believe they may represent an underappreciated and distinct endoscopic sign of CD. A total of 171 pediatric patients undergoing esophagogastroduodenoscopy with duodenal biopsy for symptoms consistent with CD were prospectively recruited. There were 75 patients who met criteria for CD and the remaining 96 patients served as symptomatic controls. As compared to endoscopic markers frequently mentioned in literature, RSLs had comparable sensitivity, specificity, positive predictive value, and negative predictive value of 31%, 94%, 80%, and 64%, respectively. If RSLs are noted during endoscopy in a patient with gastrointestinal symptoms that might be the result of CD, then sufficient duodenal biopsies to make the diagnosis of CD should be obtained.

Value of IgA tTG in Predicting Mucosal Recovery in Children With Celiac Disease on a Gluten-Free Diet.

OBJECTIVES: Our objective was to determine the rate of mucosal recovery in pediatric patients with celiac disease on a gluten-free diet. We also sought to determine whether immunoglobulin A tissue transglutaminase (tTG) correlates with mucosal damage at the time of a repeat endoscopy with duodenal biopsy in these patients. METHODS: We performed a retrospective chart review of 103 pediatric patients, younger than 21 years, with a diagnosis of celiac disease defined as Marsh 3 histology, and who underwent a repeat endoscopy with duodenal biopsy at least 12 months after initiating a gluten-free diet. RESULTS: We found that 19% of pediatric patients treated with a gluten-free diet had persistent enteropathy. At the time of the repeat biopsy, tTG was elevated in 43% of cases with persistent enteropathy and 32% of cases in which there was mucosal recovery. Overall the positive predictive value of the autoantibody tTG was 25% and the negative predictive value was 83% in patients on a gluten-free diet for a median of 2.4 years. CONCLUSIONS: Nearly 1 in 5 children with celiac disease in our population had persistent enteropathy despite maintaining a gluten-free diet and immunoglobulin A tTG was not an accurate marker of mucosal recovery. Neither the presence of symptoms nor positive serology were predictive of a patient's histology at the time of repeat biopsy. These findings suggest a revisitation of monitring and management criteria of celiac disease in childhood.

Early-onset Crohn's disease and autoimmunity associated with a variant in CTLA-4.

OBJECTIVE: IBD is a group of complex, systemic disorders associated with intestinal inflammation and extraintestinal manifestations. Recent studies revealed Mendelian forms of IBD, which contributed significantly to our understanding of disease pathogenesis and the heritability of IBD. DESIGN: We performed exome sequencing in a family with Crohn's disease (CD) and severe autoimmunity, analysed immune cell phenotype and function in affected and non-affected individuals, and performed in silico and in vitro analyses of cytotoxic T lymphocyte-associated protein 4 (CTLA-4) structure and function. RESULTS: A novel missense variant was identified in CTLA4 encoding CTLA-4, a coinhibitory protein expressed by T cells and required for regulation of T cell activation. The residue affected by the mutation, CTLA-4 Tyr60, is evolutionarily highly conserved, and the identified Y60C variant is predicted to affect protein folding and structural stability and demonstrated to cause impaired CTLA-4 dimerisation and CD80 binding. Intestinal inflammation and autoimmunity in carriers of CTLA-4 Y60C exhibit incomplete penetrance with a spectrum of clinical presentations ranging from asymptomatic carrier status to fatal autoimmunity and intestinal inflammation. In a clinically affected CTLA-4 Y60C carrier, T cell proliferation was increased in vitro and associated with an increased ratio of memory to naive T cells in vivo, consistent with impaired regulation of T cell activation. CONCLUSIONS: Our results support the concept that variants in CTLA4 provide the basis for a novel Mendelian form of early-onset CD associated with systemic autoimmunity. Incomplete penetrance of autoimmunity further indicates the presence of other genetic and/or environmental modifiers.

Graduate medical education in humanism and professionalism: a needs assessment survey of pediatric gastroenterology fellows.

The deterioration of humanism and professionalism during graduate medical training is an acknowledged concern, and programs are required to provide professionalism education for pediatric fellows. We conducted a needs assessment survey in a national sample of 138 first- and second-year gastroenterology fellows (82% response rate). Most believed that present humanism and professionalism education met their needs, but this education was largely informal (eg, role modeling). Areas for formal education desired by >70% included competing demands of clinical practice versus research, difficult doctor-patient relationships, depression/burnout, angry parents, medical errors, work-life balance, and the patient illness experience. These results may guide curricula to formalize humanism and professionalism education in pediatric gastroenterology fellowships.

Multicenter study on season of birth and celiac disease: evidence for a new theoretical model of pathogenesis.

OBJECTIVE: To investigate whether season of birth is associated with celiac disease (CD). STUDY DESIGN: We performed a medical record review of 1964 patients with biopsy-proven CD at 3 teaching hospitals (2 pediatric centers and 1 adult center) between 2000 and 2010. The first positive small intestinal biopsy result defined age of diagnosis. The observed proportions of births in each season (spring [March-May], summer [June-August], fall [September-November], and winter [December-February]) were compared with the expected proportions using binomial probability tests. RESULTS: The mean age at diagnosis was 9.8 ± 5.0 years in the 2 pediatric centers and 43.6 ± 15.8 years in the adult center. The cohort was predominately female (69%). Overall, more patients were born in spring (27%) than in any other season: summer (25%), fall (25%), and winter (23%). In patients diagnosed before age 15 years, the spring birth excess was present in boys (33%; P = .0005), but not in girls (26%; P = .43). The sex difference in season of birth was less striking in patients with CD diagnosed at age ≥15 years. CONCLUSION: Season of birth is an environmental risk factor for CD, particularly in boys diagnosed before age 15 years. The results are consistent with a new theoretical model that integrates potential environmental factors (eg, gluten introduction, ultraviolet-B exposure, vitamin D status) and acute viral gastrointestinal infections in early childhood.

Variability of histopathological changes in childhood celiac disease.

OBJECTIVES: Adult studies of celiac disease (CD) have shown that duodenal mucosal histopathological changes may be patchy, and the diagnostic utility of duodenal bulb biopsies is believed to be limited. Few related pediatric data exist. METHODS: We assessed the prevalence of variable biopsy findings and duodenal bulb involvement in children with CD, as well as its association with clinical parameters. A total of 198 consecutive cases of CD diagnosed at the Children's Hospital during 2001-2005 were analyzed. All biopsies were scored by a pathologist blinded to the clinical data using the Marsh criteria. Mucosal changes were classified as focal if changes consistent with CD and normal mucosa were found within a single biopsy fragment. Patchiness was defined as variation of at least one Marsh grade between separate fragments in a biopsy set. RESULTS: The median age was 9.3 years; 62% were female. An average of 3.6 biopsy samples was obtained per case. In 101 cases, biopsy samples were obtained from the duodenal bulb and the second portion of the duodenum. Focality was present in biopsy samples collected from 36 (18%) cases. Patchiness was found in 105 (53%) cases, and at least 1 normal biopsy fragment was present in 71 (36%) cases. In 10 cases, only the bulb biopsies were diagnostic of CD. There was no association with the clinical features examined. CONCLUSIONS: Duodenal involvement in pediatric CD is frequently patchy and may show variable severity even within a single biopsy fragment. Variability cannot be predicted by clinical characteristics. Multiple endoscopic biopsies, including the duodenal bulb, should be obtained in suspected pediatric CD cases to maximize diagnostic yield.

Clinical significance of colonic intraepithelial lymphocytosis in a pediatric population.

The significance of colonic intraepithelial lymphocytosis has been well described in adults, and is associated with lymphocytic colitis, untreated celiac disease, and medications, among others. Little is known about the meaning of colonic intraepithelial lymphocytosis in the pediatric population; this study examines this finding in a cohort of children. Twenty patients in whom colonic intraepithelial lymphocytosis was a prominent feature were identified from 1999 to 2005. Colonic intraepithelial lymphocytosis was defined as 20 or more intraepithelial lymphocytes per 100 colonocytes present in at least one colonic mucosal biopsy. Each biopsy was examined for numbers of intraepithelial lymphocytes per 100 surface and crypt colonocytes; various architectural, inflammatory, and metaplastic changes were also noted. When available, concurrent duodenal and/or ileal biopsies were examined. Studied clinical parameters included indications for biopsy, clinical follow-up, final diagnosis, comorbidities, autoimmune serologies, and medications. A total of 121 colonic mucosal biopsies were examined in 20 patients who ranged from 1 to 17 years (mean 10.2 years; 40% male). Common indications for endoscopy included diarrhea and abdominal pain. A mean of 29 (+/-22) intraepithelial lymphocytes per 100 enterocytes were seen. Seven patients had colonic intraepithelial lymphocytosis as the only histologic finding. The remaining 13 patients had additional architectural, inflammatory, and metaplastic changes. The mean follow-up period was 14 months (range 1-48 months). Inflammatory bowel disease was diagnosed in 4 of 20 patients and was seen chiefly in biopsies in which colonic intraepithelial lymphocytosis was associated with architectural or inflammatory changes. Common disease associations include celiac disease, lymphocytic colitis, and autoimmune enteropathy. Pediatric colonic intraepithelial lymphocytosis, in the absence of other histologic findings, is associated with various diseases, including celiac disease, lymphocytic colitis, and autoimmune enteropathy. Colonic intraepithelial lymphocytosis in the presence of other inflammatory changes indicates the possibility of idiopathic inflammatory bowel disease. These findings are similar to those seen in adults, with the exception of autoimmune enteropathy.

Pediatric patients with untreated ulcerative colitis may present initially with unusual morphologic findings.

BACKGROUND: Anecdotal observations by the authors of this study, together with the results of a few previous smaller studies, suggest that children with new-onset (previously untreated) ulcerative colitis (UC) may occasionally present with discontinuous disease, relative or absolute rectal sparing, and may lack histologic features ofchronicity. Therefore, the objectives of this study were to determine the clinical and pathologic features of new-onset UC in children and to compare the initial presentation of UC in this group with a control group of adults. DESIGN: Routinely processed rectal and colonic mucosal biopsies from 73 pediatric (male/female ratio 33/40, mean age 11.5 years, range 2.5-18 years) and 38 adult patients (male/female ratio 15/23, mean age 41.5 years, range 27-64 years) who presented with new-onset UC were evaluated for a variety of clinical and pathologic features, including duration of symptoms prior to presentation, crypt architectural (e.g., atrophy, branching) and nonarchitectural (e.g., basal plasmacytosis, Paneth cell metaplasia) features of chronicity, degree of active inflammation, and distribution and extent of disease. RESULTS: A significant proportion of children with new-onset UC had patchiness of microscopic features of chronicity (21% of patients), relative (23%), or absolute (3%), rectal sparing, and had little or no crypt architectural distortion in their rectal biopsies (8%). These features were not observed in adult patients with UC. In addition, a higher proportion of children with UC initially presented with subtotal or with pancolitis compared with the adults (42% vs. 11%; P < 0.002). CONCLUSIONS: A significant proportion of children with new-onset UC may show unusual patterns of disease. Pathologists should be aware of these findings since they have significant implications for the differential diagnosis of pediatric inflammatory bowel disease.