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Introduction: High-quality pediatric gastrointestinal procedures are performed when clinically indicated and defined by their successful performance by skilled providers in a safe, comfortable, child-oriented, and expeditious manner. The process of pediatric endoscopy begins when a plan to perform the procedure is first made and ends when all appropriate patient follow-up has occurred. Procedure-related standards and indicators developed to date for endoscopy in adults emphasize cancer screening and are thus unsuitable for pediatric medicine. Methods: With support from the North American and European Societies of Pediatric Gastroenterology Hepatology and Nutrition (NASPGHAN and ESPGHAN), an international working group of the Pediatric Endoscopy Quality Improvement Network (PEnQuIN) used the methodological strategy of the Appraisal of Guidelines for REsearch and Evaluation (AGREE) II instrument to develop standards and indicators relevant for assessing the quality of endoscopic procedures. Consensus was sought via an iterative online Delphi process and finalized at an in- person conference. The quality of evidence and strength of recommendations were rated according to the GRADE (Grading of Recommendation Assessment, Development, and Evaluation) approach. Results: The PEnQuIN working group achieved consensus on 14 standards for pediatric endoscopic procedures, as well as 30 indicators that can be used to identify high-quality procedures. These were subcategorized into three subdomains: Preprocedural (3 standards, 7 indicators), Intraprocedural (8 standards, 18 indicators), and Postprocedural (3 standards, 5 indicators). A minimum target for the key indicator, “rate of adequate bowel preparation, ” was set at ≥80%. Discussion: It is recommended that all facilities and individual providers performing pediatric endoscopy worldwide initiate and engage with the procedure-related standards and indicators developed by PEnQuIN to identify gaps in quality and drive improvement.

There are currently no universal evidence-based nutrition guidelines that address the gluten-free (GF) diet for children/youth (4–18 years). A GF food guide was created to help children/youth with coeliac disease (CD) and their families navigate the complexities of following a GF diet. Guide formation was based on pre-guide stakeholder consultations and an evaluation of nutrient intake and dietary patterns. The study objective was to conduct an evaluation on guide content, layout, feasibility and dissemination strategies from end-stakeholder users (children/youth with CD, parents/caregivers and health care professionals). This is a cross-sectional study using a multi-method approach of virtual focus groups and an online survey to conduct stakeholder evaluations. Stakeholders included children/youth (4–18 years), their parents/caregivers in the coeliac community (n 273) and health care professionals (n 80) with both paediatric and CD experience from across Canada. Thematic analysis was performed on focus group responses and open-ended survey questions until thematic saturation was achieved. χ2 and Fisher’s exact statistical analyses were performed on demographic and close-ended survey questions. Stakeholders positively perceived the guide for content, layout, feasibility, ethnicity and usability. Stakeholders found the material visually appealing and engaging with belief that it could effectively be used in multi-ethnic community and clinical-based settings. Guide revisions were made in response to stakeholder consultations to improve food selection (e.g. child-friendly foods), language (e.g. clarity) and layout (e.g. organisation). The evaluation by end-stakeholders provided practical and patient-focused feedback on the guide to enable successful uptake in community and clinical-based settings.

The incidence of celiac disease in first-degree relatives of affected individuals is higher than in the general population, yet the clinical characteristics of this unique subset of patients has not been well described. Through a retrospective review of patients seen in a tertiary care pediatric celiac disease clinic, we identified 49 patients diagnosed with celiac disease following screening due to an affected first-degree relative. Although 51% of patients screened due to an affected first-degree relative were asymptomatic, their disease histology was as severe as those screened for symptoms suggestive of celiac disease. These findings support current recommendations to screen all first-degree relatives of patients with celiac disease regardless of clinical symptoms.

SCYL1 disease results from biallelic pathogenic variants in SCYL1. We report two new patients with severe hepatic phenotype requiring liver transplantation. Patient charts reviewed. DNA samples and skin fibroblasts were utilized. Literature was reviewed. 13-year-old boy and 9-year-old girl siblings had acute liver insufficiency and underwent living related donor liver transplantation in infancy with no genetic diagnosis. Both had tremor, global developmental delay, and cognitive dysfunction during their follow-up in the medical genetic clinic for diagnostic investigations after their liver transplantation. Exome sequencing identified a likely pathogenic variant (c.399delC; p.Asn133Lysfs*136) in SCYL1. Deletion/duplication analysis of SCYL1 identified deletions of exons 7-8 in Patient 1. Both variants were confirmed in Patient 2 and the diagnosis of SCYL1 disease was confirmed in both patients at the age of 13 and 9 years, respectively. SCYL1 protein was not expressed in both patients' fibroblast using western blot analysis. Sixteen patients with SCYL1 disease reported in the literature. Liver phenotype (n = 16), neurological phenotype (n = 13) and skeletal phenotype (n = 11) were present. Both siblings required liver transplantation in infancy and had variable phenotypes. Exome sequencing may miss the diagnosis and phenotyping of patients can help to diagnose patients.

The lack of mandated folate enrichment of gluten-free (GF) grains in Canada has been suspected to contribute to suboptimal folate intake among children suffering from Celiac disease (CD). Children with CD on the gluten-free diet (GFD) face nutrient imbalances (higher fat/sugar, lower folate) from processed GF foods. The study objective examined folate intake in children with CD and folate content of household food purchases. Households collected food receipts for 30 days to assess folate content. Folate-rich foods were defined as ≥60 µg dietary folate equivalent (DFE)/100g. Two 24-hour recalls assessed children's intake. Households (

Introduction Pediatric-specific quality standards for endoscopy are needed to define best practices, while measurement of associated indicators is critical to guide quality improvement. The international Pediatric Endoscopy Quality Improvement Network (PEnQuIN) working group was assembled to develop and define quality standards and indicators for pediatric gastrointestinal endoscopic procedures through a rigorous guideline consensus process. Methods The Appraisal of Guidelines for REsearch and Evaluation (AGREE) II instrument guided PEnQuIN members, recruited from 31 centers of various practice types representing 11 countries, in generating and refining proposed quality standards and indicators. Consensus was sought via an iterative online Delphi process, and finalized at an in-person conference. Quality of evidence and strength of recommendations were rated according to the GRADE (Grading of Recommendation Assessment, Development, and Evaluation) approach. Results Forty-nine quality standards and 47 indicators reached consensus, encompassing pediatric endoscopy facilities, procedures, endoscopists and the patient experience. The evidence base for PEnQuIN standards and indicators was largely adult-based and observational, and downgraded for indirectness, imprecision and study limitations to 'very low' quality, resulting in 'conditional' recommendations for most standards (45/49). Conclusions The PEnQuIN guideline development process establishes international agreement on clinically meaningful metrics that can be used to promote safety and quality in endoscopic care for children. Through PEnQuIN, pediatric endoscopists and endoscopy services now have a framework for auditing, providing feedback and, ultimately, benchmarking performance. Expansion of evidence and prospective validation of PEnQuIN standards and indicators as predictors of clinically relevant outcomes and high quality pediatric endoscopic care is now a research priority.

Introduction High quality procedure reports are a cornerstone of high quality pediatric endoscopy as they ensure the clear communication of procedural events and outcomes, guide patient care and facilitate continuous quality improvement. The aim of this document is to outline standardized reporting elements that achieved international consensus as requirements for high quality pediatric endoscopy procedure reports. Methods With support from the North American and European Societies of Pediatric Gastroenterology, Hepatology and Nutrition (NASPGHAN and ESPGHAN), an international working group of the Pediatric Endoscopy Quality Improvement Network (PEnQuIN) used Delphi methodology to identify key elements that should be found in all pediatric endoscopy reports. Item reduction was attained through iterative rounds of anonymized online voting using a 6-point scale. Responses were analyzed after each round and items were excluded from subsequent rounds if ≤50% of panelists rated them as 5 ('agree moderately') or 6 ('agree strongly'). Reporting elements that ≥70% of panelists rated as 'agree moderately' or 'agree strongly' were considered to have achieved consensus. Results Twenty-six PEnQuIN group members from 25 centers internationally rated 63 potential reporting elements that were generated from a systematic literature review and the Delphi panelists. The response rates were 100% for all three survey rounds. Thirty reporting elements reached consensus as essential for inclusion within a pediatric endoscopy report. Discussion It is recommended that the PEnQuIN Reporting Elements for pediatric endoscopy be universally employed across all endoscopists, procedures and facilities as a foundational means of ensuring high quality endoscopy services, while facilitating quality improvement activities in pediatric endoscopy.

Background Canadian-born children of South Asian [SA] ethnicity develop inflammatory bowel disease [IBD] at similar rates to those among Caucasian children. We evaluated the variation in phenotypic spectrum of IBD in SA and Caucasian children in a national paediatric inception cohort of new-onset IBD. Methods Patients aged Results Of 1156 children enrolled over 2014 to 2019, 623 were Caucasian [98% and 88% parents Canadian born] and 114 SA [79% Canadian born, 87% parents SA born]. Fewer SAs have a first-degree relative with IBD, 6% vs 19% in Caucasians, p = 0.002. SAs present at a younger age, median age 11.4 years (interquartile range [IQR] 9.2–14.3) vs 13 years [IQR 10.9-15 years], p = 0.03 and more commonly with a UC/IBD-U [ulcerative colitis/IBD-unclassified] subtype [ratio of UC/IBD-U to CD 1.2:1 vs 1:1.8 for Caucasians, p Conclusions The phenotypic spectrum of new-onset IBD in SA children differs from that of Caucasian children, but treatment and clinical course are similar within phenotypic subgroups.

info:eu-repo/semantics/published

Celiac disease (CD) is an autoimmune disease requiring lifelong adherence to the gluten-free diet (GFD). The GFD has significant nutritional limitations which may result in poor diet quality (DQ). We hypothesized that biopsy-proven children with CD (CCD) would have dietary patterns characterized by high saturated fat/simple sugar intake with a low micronutrient density contributing to lower DQ when compared to children with mild-gastrointestinal complaints (GI-CON). In addition, we hypothesized that ethnicity may further impact DQ.Socio-demographic (age, CD duration, parent/child ethnicity, education), household characteristics, anthropometric, dietary intake (24-h recalls), gastrointestinal pain and adherence was collected in CCD (n = 243) and GI-CON (n = 148). Dietary patterns were determined using k-mean Cluster Analysis.GI-CON had significantly lower DQ than CCD (p 0.001). Most CCD and GI-CON (80%) had dietary patterns characterized by1) Western Diet (Cluster 1: %BMR: 110-150, low DQ, high fat, moderate CHO, high sodium) and 2) High Fat-Western Diet (Cluster 2: %BMR:130-150, low DQ, high Fat, high processed meats, high fat dairy products, CHO. Fewer children (20%) had Prudent, Lower Fat/High Carbohydrate dietary patterns (% BMR:100-150, higher DQ, lower fat/sodium, higher CHO) with a greater proportion of non-Caucasian CCD consuming a Prudent dietary pattern. Seventy-seven percent and 37.5% of CCD and GI-CON, respectively, did not meet estimated average requirements for folate (p 0.001).CCD and GI-CON have predominantly Western dietary patterns with low DQ, particularly GI-CON. Non-caucasian CCD consume more prudent dietary patterns with higher DQ. Nutrition education is warranted to ensure optimal DQ in children with chronic gastrointestinal diseases.

Objective:While tissue transglutaminase (tTG) antibodies are the most established serological test for celiac disease, newer deamidated gliadin peptide (DGP) screening tests are increasingly being completed. No pediatric study has systematically assessed the incidence of celiac disease in pa

The gluten-free (GF) diet is the only treatment for coeliac disease (CD). While the GF diet can be nutritious, increased reliance on processed and packaged GF foods can result in higher fat/sugar and lower micronutrient intake in children with CD. Currently, there are no evidence-based nutrition guidelines that address the GF diet. The objective of this cross-sectional study was to describe the methodological considerations in forming a GF food guide for Canadian children and youth (4–18 years) with CD. Food guide development occurred in three phases: (1) evaluation of nutrient intake and dietary patterns of children on the GF diet, (2) pre-guide stakeholder consultations with 151 health care professionals and 383 community end users and (3) development of 1260 GF diet simulations that addressed cultural preferences and food traditions, diet patterns and diet quality. Stakeholder feedback identified nutrient intake and food literacy as important topics for guide content. Except for vitamin D, the diet simulations met 100 % macronutrient and micronutrient requirements for age–sex. The paediatric GF plate model recommends intake of >50 % fruits and vegetables (FV)

Children with coeliac disease (CD) following the gluten-free diet may experience ongoing gastrointestinal symptoms despite strict adherence. The study objective was to evaluate the association between foods high in fermentable oligo/di/monosaccharides, and polyols (FODMAP) and gastrointestinal symptoms, and the potential implications to diet quality and health-related quality of life in CD children. Dietary intake was studied in age-sex matched children 5-18 years (CD

Introduction High quality pediatric endoscopy requires reliable performance of procedures by competent individual providers who consistently uphold all standards determined to assure optimal patient outcomes. Establishing consensus expectations for ongoing monitoring and assessment of individual pediatric endoscopists is a method for confirming the highest possible quality of care for such procedures worldwide. We aim to provide guidance to define and measure quality of endoscopic care for children. Methods With support from the North American and European Societies of Pediatric Gastroenterology Hepatology and Nutrition (NASPGHAN and ESPGHAN), an international working group of the Pediatric Endoscopy Quality Improvement Network (PEnQuIN) used the methodological strategy of the Appraisal of Guidelines for REsearch and Evaluation (AGREE) II instrument to develop standards and indicators relevant for assessing the quality of endoscopists. Consensus was sought via an iterative online Delphi process and finalized at an in-person conference. The quality of evidence and strength of recommendations were rated according to the GRADE (Grading of Recommendation Assessment, Development, and Evaluation) approach. Results The PEnQuIN working group achieved consensus on 6 standards that all providers who perform pediatric endoscopy should uphold and 2 standards for pediatric endoscopists in training, with a corresponding 7 indicators that can be used to identify high quality endoscopists. Additionally, these can inform continuous quality improvement at the provider level. Minimum targets for defining high quality pediatric ileocolonoscopy were set for 2 key indicators: cecal intubation rate (≥90%) and terminal ileal intubation rate (≥85%). Discussion It is recommended that all individual providers performing or training to perform pediatric endoscopy initiate and engage with these international endoscopist-related standards and indicators developed by PEnQuIN.

Celiac disease (CD) is an autoimmune disease that requires lifelong adherence to a gluten-free diet (GFD). Adherence to the GFD in childhood may be poor and adversely influence health-related quality of life (HRQOL). The study purpose was to determine sociodemographic and socioeconomic factors influencing adherence to the GFD and HRQOL in a multiethnic cohort of youth with CD.A multisite (Edmonton, Hamilton, Toronto) study examining child-parent HRQOL in youth with CD (n = 243) and/or mild gastrointestinal complaints (GI-CON; n = 148) was conducted. Sociodemographic (age, child-parental age/education/ethnicity/place of birth), anthropometric (weight, height, body mass index), disease (diagnosis, age at diagnosis, duration, Marsh score, serology), household characteristics (income, family size, region, number of children/total household size), HRQOL (Peds TM/KINDL and Celiac Disease DUX), GI Complaints (PedsQL: Gastrointestinal Symptom Scale) and gluten intake were measured.Younger age (10 years), non-Caucasian ethnicity (parent/child), and presence of GI symptoms were associated with the highest rates of adherence to the GFD in CD children (P 0.05). CD children (parent/child) had higher HRQOL (average, composite domains) than GI-CON (P 0.05), but CD children were comparable to healthy children. Lack of GI symptoms, non-Caucasian ethnicity and age (10 years) were associated with increased HRQOL in composite/average domains for CD (P 0.05).Child-parent perceptions of HRQOL in a multiethnic population with CD are comparable to healthy reference populations, but significantly higher than in parent/child GI-CON. Adherence to the GFD in ethnically diverse youth with CD was related to GI symptoms, age of the child, and ethnicity of the parent-child.

There is significant variability in the design and management of pediatric endoscopy units. Although there is information on adult endoscopy units, little guidance is available to the pediatric endoscopy practitioner. The purpose of this clinical report, prepared by the NASPGHAN Endoscopy and Procedures Committee, is to review the important considerations for setting up an endoscopy unit for children. A systematic review of the literature was undertaken in the preparation of this report regarding the design, management, needed equipment, motility setup, billing and coding, and pediatric specific topics.

Background A strict, lifelong, gluten-free diet (GFD) remains the sole treatment for celiac disease (CD). The assessment of adherence to the GFD in pediatric studies is often based on self-report and visual analogue scales which lack proven validity. We sought to compare parental-report of GFD adherence to expert registered dietitian (RD) assessments, the best available standard. Methods Parents of children with biopsy-proven CD scored their adherence to the GFD on a five-point Likert scale similar to that used in previous pediatric CD studies. Each family was then evaluated by an RD expert in CD management who conducted a comprehensive and standardized assessment and scored the family’s adherence. The agreement between parents and the RD was assessed using paired t test and intraclass correlation coefficient (ICC) based on their scores. Results One hundred twenty-two children and their families participated in the study, with a median of 32 months on a GFD. Excellent adherence (score 5 out of 5) was attributed to 60.5% of the sample by the RD. The parents scored adherence higher than the RD by an average difference of 0.41 scale points (95% CI, 0.28–0.54; P < 0.001). The agreement between parents and the registered dietitian was poor (ICC = 0.21). Conclusion Reliance on self-report through Likert scales for GFD adherence overestimates adherence and misses opportunities for patient and family education. Approximately 40% of children with CD have ongoing gluten exposure, highlighting the need for regular assessment by an RD expert in the GFD to identify education and counselling needs for children with CD.

Successful transitional care for young adults entails that healthcare teams recognize and understand the attitudes, perspectives, and developmental maturity of young adults. The aim of this study was to identify the needs of young adults with inflammatory bowel disease. Young adults 18-30 years of age were recruited from the McMaster University Medical Centre adult inflammatory bowel disease (IBD) clinic between July 2012 and May 2013. Semistructured interviews were audio taped, transcribed verbatim, and coded using a constant comparative method. QSR NVivo10 software was used to manage the data. Twenty-one young adults, including 15 subjects diagnosed as adolescents (younger than 18 years) and 6 subjects diagnosed as young adults, were interviewed. Four broad categories of needs were identified: psychosocial, informational, self-advocacy, and daily living needs. The most commonly reported needs were psychosocial and the least common were daily living needs. Results from this study may be used to inform clinical practitioners of potential needs that may be important to the overall quality of patient health during young adulthood. In addition, these findings may be used to evaluate existing transition and self-management tools to measure success of transition interventions more effectively.

BACKGROUND Celiac disease (CD) is an autoimmune enteropathy triggered by gliadin. The gold standard for diagnosis is small bowel biopsy. Screening with serologic markers to identify endoscopic candidates is commonly completed by paediatricians. The most common serologic marker used for screening is IgA anti-Tissue Transglutaminase (TTG) antibodies. Antibodies to deamidated gliadin peptide (DGP) is a newer assay with studies demonstrating a diagnostic performance similar to anti-TTG. In Canada, this assay has been added to many laboratory’s celiac screening panels. There is little evidence however regarding the usefulness of an isolated positive anti-DGP result in paediatric patients and no study has systematically assessed the presence of biopsy proven CD in solely anti-DGP positive paediatric patients. OBJECTIVES We sought to determine the positive predictive value of anti-DGP for biopsy proven CD in paediatric patients with negative TTG IgA testing. DESIGN/METHODS A multi-center retrospective review of children referred to three centers in Ontario, Canada between January 2015 and December 2016 who had isolated anti-IgG DGP positive CD serology was completed. To be included, patients required serology positive for DGP IgG and negative for all other celiac serologic tests, as well as a duodenal biopsy while on a gluten-containing diet. The positive predictive value of isolated anti-DGP was calculated. RESULTS A total of 83 patients were identified with anti-DGP positive, anti-TTG negative serology. Of these, 40 patients underwent endoscopy. Only 1 patient had findings consistent with CD on biopsy (Marsh 3B histology), yielding a positive predictive value of 2.5%. This patient was IgA deficient. Amongst the cohort of IgA sufficient patients (N=25), the positive predictive value of anti-DGP serology was 0%. One additional patient who was IgA sufficient had findings in keeping with Marsh 2 histology, but repeat TTG and DGP testing was negative. Five patients were found to be IgA deficient at the time of serologic testing, 25 were IgA sufficient and 10 did not have a measured IgA. CONCLUSION Isolated positive DGP IgG serology has a poor positive predictive value for CD, especially in IgA sufficient individuals. For this reason, DGP IgG testing should not be completed as part of the initial screening for celiac disease in the paediatric population unless a compelling reason, such as IgA deficiency or age under 2 years, is present, in order to prevent unnecessary invasive follow-up testing and costs to patients and the health care system.

The present study assessed the role of serum ferritin as a noninvasive biomarker in the diagnosis and monitoring of pediatric celiac disease. A retrospective chart review was performed on patients younger than 18 years old at time of diagnosis (n = 193) between 1998 and 2015. A total of 653 paired values demonstrated a weak negative correlation between serum ferritin and tissue transglutaminase-immunoglobulin A (r = -0.114; P = 0.004), necessitating further evaluation. A significant relationship was found between reduction of tissue transglutaminase-immunoglobulin A and increase in serum ferritin after institution of a gluten-free diet (P < 0.0001), suggesting that resolution of villous damage is necessary for promoting adequate iron absorption.

BACKGROUND: Although the hepatitis B vaccination has an efficacy of 95%, the CDC reports that 275 million people are infected with chronic hepatitis B, with 700,000 deaths per year. In Ontario, a publicly-funded, 2-dose vaccine series is routinely offered to grade 7 students. However, the vertical transmission of hepatitis B is a risk for infants born to carrier mothers. Therefore, prospective mothers are routinely screened for HBsAg during the first trimester of pregnancy. The Canadian Immunization Guide recommends that all infants born to infected mothers should receive vaccine and hepatitis B immune globulin (HBIg) within 12 hours of birth. As there is no published literature on the timeliness of hepatitis B immunization, this study aimed to investigate time of HBIg and vaccine administration in infants born to HBsAg positive mothers. OBJECTIVES: The primary outcome was the proportion of infants receiving HBIg and Hepatitis B vaccine within 12 hours of birth. DESIGN/METHODS: Mother-infant dyads were identified where the hepatitis B vaccine was ordered. Full review was conducted for infants born to HBsAg positive mothers between 2010 and 2015. Mother and infant charts were paired and retrospectively reviewed across 6 hospital sites in Ontario, including 2 community hospitals, 2 academic hospitals, and 2 satellite teaching hospitals. Between-group differences were tested through Welch’s analysis of variance and associations were explored through Spearman’s rank correlation. Statistical significance was set for P

Background The transition from pediatric to adult care for inflammatory bowel disease (IBD) is poorly understood. Aims To characterize this transfer of care, health resource utilization was assessed. Methods Patients transferred between 1999 and 2008 were studied. Utilization of health resources one year before transfer and one year after transfer was compared. Resource units assessed included: i) emergency department (ED) visits; ii) hospitalizations; iii) clinic visits; iv) surgical procedures; and v) endoscopies. Secondary outcomes included: i) documentation of patient non-compliance; ii) reason(s) for ED visit; iii) diagnoses most responsible for hospital admission; iv) medications; v) indications for surgery; vi) endoscopic findings; vii) and disease activity. Results 95 subjects were identified (48 female), of whom 69 had Crohn's disease (CD) and 26 had ulcerative colitis (UC). The average age of diagnosis was 12.9 years. Over their adult care interval, subjects had fewer clinic visits (2.56 versus 3.05 (p = 0.01)) and more documented non-compliance (43% versus 29% (p = 0.01)). No differences in ED visits (0.15 versus 0.18 (p = 0.71)), hospitalizations (0.13 versus 0.13 (p = 0.23)), surgical intervention (0.03 versus 0.05 (p = 0.53)) or endoscopies (0.37 versus 0.25 (p = 0.11)) were observed. IBD was active 66.7% of endoscopies under pediatric care versus only 23.8% under adult care (p = 0.003). The average activity of CD was also higher during the last year of pediatric care. Conclusions Understanding the transition process can help to develop strategies needed to support patients and their families.

Wireless capsule endoscopy (CE) was introduced in 2000 as a less invasive method to visualize the distal small bowel in adults. Because this technology has advanced it has been adapted for use in pediatric gastroenterology. Several studies have described its clinical use, utility, and various training methods but pediatric literature regarding CE is limited. This clinical report developed by the Endoscopic and Procedures Committee of the North American Society of Pediatric Gastroenterology, Hepatology and Nutrition outlines the current literature, and describes the recommended current role, use, training, and future areas of research for CE in pediatrics.

Background Clinical Practice Guidelines (CPG) from both adult medicine and pediatrics recommend tTG to screen for celiac disease (CD). Design and methods Serological test orders for celiac disease were evaluated against the guidelines. Ordering physicians were categorized as gastroenterologists, immunologists, pediatricians, other hospital physicians and non-hospital physicians. Interventions based on initial audit were implemented, including interacting with physicians, revising test menu and changing test ordering policy. After implementation of interventions, test orders were re-evaluated. Results After corrective interventions celiac panel (CP) orders were decreased from 48.4% to 3.6% in children, and from 72.3% to 28.1% in adults. Physicians ordered tTG alone for more than 90% of children. In adults the ordering of tTG alone was significantly increased from 7.2% to 61.3% (from 8.9% to 63.9% for gastroenterologists and from 8.1% to 44.4% for other physicians (p Conclusions The audit reduced the CPG-practice gap that existed in the screening of CD.

Background & Aims The validation of noninvasive tests to diagnose esophageal varices is a priority in children because repeated endoscopic evaluations are too invasive. We measured the ability of a previously developed noninvasive clinical prediction rule (CPR) to predict the presence of esophageal varices in children. Methods We analyzed data from 108 children, younger than age 18, who received endoscopies at 8 centers, to assess portal hypertension from chronic liver disease or portal vein obstruction. Blood test and abdominal ultrasound scan results were obtained within 4 months of endoscopy. Grading of varices identified by endoscopy was confirmed by independent blinded review. Spleen size, based on data from the ultrasound scan, was expressed as a standard deviation score relative to normal values for age. Results Of the children studied, 74 had esophageal varices (69%), including 35 with large varices (32%). The best noninvasive predictors of esophageal varices of any size were as follows: platelet:spleen size z-score ratio (area under the receiver operating characteristic curve [AUROC], 0.84; 95% confidence interval [CI] 0.75–0.93), CPR (AUROC, 0.80; 95% CI, 0.70–0.91), and platelet count (AUROC, 0.79; 95% CI, 0.69–0.90). The positive predictive values for the CPR and platelet count were 0.87 and 0.86, the negative predictive values were 0.64 and 0.63, the positive likelihood ratios were 3.06 and 2.76, and the negative likelihood ratios were 0.64 and 0.63, respectively. Based on positive and negative predictive values, the most accurate noninvasive tests were the CPR and platelet counts. Conclusions Noninvasive tests such as CPR and platelet count can assist in triaging children for endoscopy to identify esophageal varices.

BACKGROUND AND OBJECTIVES: Autoimmune hepatitis (AIH) is a progressive inflammatory liver disease of unknown etiology, with limited population-based estimates of pediatric incidence. We reported the incidence of pediatric AIH in Canada and described its clinical characteristics. METHODS: We conducted a retrospective cohort study of patients aged RESULTS: A total of 159 children with AIH (60.3% female, 13.2% type 2 AIH) were identified. Annual incidence was 0.23 per 100000 children. Median age at presentation for type 1 was 12 years (interquartile range: 11–14) versus 10 years for type 2 (interquartile range: 4.5–13) (P = .03). Fatigue (58%), jaundice (54%), and abdominal pain (49%) were the most common presenting symptoms. Serum albumin (33 vs 38 g/L; P = .03) and platelet count (187 000 vs 249 000; P CONCLUSIONS: AIH is uncommon in children and adolescents in Canada. Type 1 AIH was diagnosed 5.5 times more frequently than type 2 AIH. Most patients respond well to conventional therapy, diminishing the need for liver transplantation.

Aim To develop a generic self-management skills scale for use with adolescents diagnosed with a chronic health condition who are aged 12 to 18 years. Background There is a lack of methodologically sound scales for healthcare teams to use to measure self-management skills in adolescents with chronic conditions transitioning to adult care. Methods Adolescents aged 12 to 18 years with a broad range of chronic health conditions, including neurodevelopmental conditions, were recruited from May to August 2013 from nine outpatient clinics at McMaster Children's Hospital (Canada). Thirty-two participated in a cognitive interview, and 337 completed a questionnaire booklet. Interviews were used to develop the TRANSITION-Q. Rasch measurement theory (RMT) analysis was used to identify items that represent the best indicators of self-management skills. Traditional psychometric tests of measurement performance were also conducted. Results The response rate was 92% (32/32 cognitive; 337/371 field test). RMT analysis resulted in a 14-item scale with three response options. The overall fit of the observed data to that expected by the Rasch model was non-significant, providing support that this new scale measured a unidimensional construct. Other tests supported the scale as scientifically sound, e.g. Person Separation Index = 0.82; good item fit statistics; no differential item function by age or gender; low residual correlations between items; Cronbach's alpha = 0.85; test-retest reliability = 0.90; and tests of construct validity that showed, as hypothesized, fewer skills in younger participants and in participants who required assistance to complete the scale. Finally, participants who agreed they are ready to transfer to adult healthcare reported higher TRANSITION-Q scores than did participants who disagreed. Conclusions The TRANSITION-Q is a short, clinically meaningful and psychometrically sound scale. This generic scale can be used in research and in paediatric and adolescent clinics to help evaluate readiness for transition.

BACKGROUND: Wait times are an important measure of health care system effectiveness. There are no studies describing wait times in pediatric gastroenterology for either outpatient visits or endoscopy. Pediatric endoscopy is performed under light sedation or general anesthesia. The latter is hypothesized to be associated with a longer wait time due to practical limits on access to anesthesia in the Canadian health care system.OBJECTIVE: To identify wait time differences according to sedation type and measure adverse clinical outcomes that may arise from increased wait time to endoscopy in pediatric patients.METHODS: The present study was a retrospective review of medical charts of all patients RESULTS: The median wait time to procedure was 64 days for general anesthesia patients and 22 days for patients who underwent light sedation (PCONCLUSIONS: Due to the lack of pediatric anesthetic resources, patients who were administered general anesthesia experienced a longer wait time for endoscopy compared with patients who underwent light sedation. This did not result in adverse clinical outcomes in this population.

Germ-line mutations in the CDKN2A tumor-suppressor gene (also known as p16, p16INK4a, and MTS1) have been linked to the development of melanoma in some families with inherited melanoma. Whether mutations in CDKN2A confer a predisposition to sporadic (nonfamilial) melanoma is not known. In some patients with sporadic melanoma, one or more additional primary lesions develop, suggesting that some of these patients have an underlying genetic susceptibility to the cancer. We hypothesized that this predisposition might be due to germ-line CDKN2A mutations.We used the polymerase chain reaction, single-strand conformation polymorphism analysis, and direct DNA sequencing to identify germ-line mutations in the CDKN2A gene in patients with multiple primary melanomas who did not have family histories of the disease. A quantitative yeast two-hybrid assay was used to evaluate the functional importance of the CDKN2A variants.Of 33 patients with multiple primary melanomas, 5 (15 percent; 95 percent confidence interval, 4 percent to 27 percent) had germ-line CDKN2A mutations. These included a 24-bp insertion at the 5' end of the coding sequence, three missense mutations (Arg24Pro, Met53Ile, and Ser56Ile), and a 2-bp deletion at position 307 to 308 (resulting in a truncated CDKN2A protein). In three families, CDKN2A mutations identical to those in the probands were found in other family members. In two families with mutations, we uncovered previously unknown evidence of family histories of melanoma.Some patients with multiple primary melanomas but without family histories of the disease have germ-line mutations of the CDKN2A gene. The presence of multiple primary melanomas may signal a genetic susceptibility to melanoma not only in the index patient but also in family members, who may benefit from melanoma-surveillance programs.

Background: Approximately 8 to 12% of melanoma appears to be inherited in an autosomal dominant form. Although most early stage melanomas can be treated successfully by simple surgical excision, patients with advanced disease are rarely cured even with aggressive chemotherapy and/or immunotherapy. Objective: There is now compelling evidence that germline mutations of the CDKN2A gene on chromosome 9p21 predispose to melanoma in a subset of melanoma-prone families. In this article the evidence for the role of CDKN2A in the genesis of familial melanoma is reviewed and the implications of genetic testing in families with this disease are discussed. Conclusion: The identification and subsequent surveillance of unaffected individuals who have a genetic predisposition to melanoma may lead to the detection of early (curable) melanomas and to a reduction in mortality.

To assess vitamin D status of pediatric patients with Crohn's disease (CD) and to compare their serum 25-hydroxyvitamin D (s-25OHD) with established cutoffs and assess whether 6 months of supplementation with 2000 IU/d, vs 400 IU/d, would reduce the group prevalence of vitamin D below these cutoffs.Subjects 8-18 years (n = 83) with quiescent CD were randomized to either 400 or 2000 IU vitamin D3/d for 6 months.Baseline mean ± SD s-25OHD was 24 ± 8 ng/mL; 13 subjects (16%) had an s-25OHD16 ng/mL, 27 (33%)20 ng/mL, and 65 (79%)30 ng/mL. There was no significant difference between groups in achieving the cutoffs of 16 ng/mL or 20 ng/mL at 6 months; however, only 35% of the 400 IU group achieved the greater cutoff of 30 ng/mL compared with 74% in the 2000 IU group (P.001). Baseline adjusted mean s-25OHD concentrations at 6 months were 9.6 ng/mL (95% CI 6.0-13.2, P.001) greater in the 2000 IU than the 400 IU group. Disease activity was not affected by supplement dose. Few subjects exceeded safety marker cutoffs, and this did not differ by dose.At baseline, a high proportion of patients had a mean s-25OHD20 ng/mL. 2000 IU vitamin D3/d is more effective in raising s-25OHD concentrations to30 ng/mL in children with CD than 400 IU/d, but both treatments were equally effective at achieving 16 or 20 ng/mL.

A 15-year-old boy was referred by his family physician for a body mass index of 14 kg/m2. Previously, he had been following the fifth percentile for weight, despite being at the 50th percentile for height. His medical history was notable for eczema, iron-deficiency anemia and bronchitis. He unintentionally lost 4.5 kg over the past year, coinciding with the beginning of high school. He denied abdominal pain, vomiting, headaches, wheezing, reflux, arthritis, rashes and travels, and he passed formed stools daily. He was hungry, ate a varied diet, and denied concerns with body shape, restricting, binging or purging. Although he wished to gain weight, early satiety limited portion sizes. He was not physically active, but had healthy social and academic interests, and an appropriate mood. His mother had depression, two paternal uncles had celiac disease and his father reportedly had a transient malabsorptive problem as a child. Physical examination was normal aside from obviously low weight. Complete blood count, electrolytes, transaminases, total protein, albumin, thyroid function, antinuclear antibody, rheumatoid factor, ferritin, C-reactive protein, urinalysis, celiac and HIV screens were unremarkable. Esophagogastroduodenoscopy showed mild chronic gastritis without Helicobacter pylori infection. The patient was instructed to consume high-energy foods plus two cans of Ensure (Abbott Laboratories Ltd, Canada) per day. Although consuming an average of 2260 calories per day during the first five weeks, he only gained 1.1 kg. Over the following six months, despite aggressive calorie supplementation with ongoing suggestions from the dietician, he continued to demonstrate suboptimal weight gain, fluctuating between 44 kg and 46 kg. He was, therefore, admitted to hospital where he developed nonbilious and nonbloody emesis. Radiography of his chest and abdomen were unremarkable, as was an upper gastrointestinal contrast study. Nasogastric feeds were started with an intake of up to 3300 calories per day, gaining only 0.3 kg in the first week of admission. A further diagnostic test revealed the diagnosis.

Health administrative databases can be used to track chronic diseases. The aim of this study was to validate a case ascertainment definition of paediatric-onset inflammatory bowel disease (IBD) using administrative data and describe its epidemiology in Ontario, Canada.A population-based clinical database of patients with IBD aged15 years was used to define cases, and patient information was linked to health administrative data to compare the accuracy of various patterns of healthcare use. The most accurate algorithm was validated with chart data of children aged18 years from 12 medical practices. Administrative data from the period 1991-2008 were used to describe the incidence and prevalence of IBD in Ontario children. Changes in incidence were tested using Poisson regression.Accurate identification of children with IBD required four physician contacts or two hospitalisations (with International Classification of Disease (ICD) codes for IBD) within 3 years if they underwent colonoscopy and seven contacts or three hospitalisations within 3 years in those without colonoscopy (children12 years old, sensitivity 90.5%, specificity99.9%; children15 years old, sensitivity 89.6%, specificity99.9%; children18 years old, sensitivity 91.1%, specificity 99.5%). Age- and sex-standardised prevalence per 100 000 population of paediatric IBD has increased from 42.1 (in 1994) to 56.3 (in 2005). Incidence per 100 000 has increased from 9.5 (in 1994) to 11.4 (in 2005). Statistically significant increases in incidence were noted in 0-4 year olds (5.0%/year, p = 0.03) and 5-9 year olds (7.6%/year, p0.0001), but not in 10-14 or 15-17 year olds.Ontario has one of the highest rates of childhood-onset IBD in the world, and there is an accelerated increase in incidence in younger children.

We describe 3 years follow-up of glyburide therapy in a child with permanent neonatal diabetes mellitus (PND) born to a 19 year-old mother with congenital diabetes mellitus. Genetic analysis identified a KCNJ11 mutation (R201H) in both the child and her mother. After 2 years of insulin therapy, the patient was switched to oral glyburide. After initial stabilization, glyburide therapy resulted in a marked decrease in glucose excursions in comparison to insulin. The patient had 3-10 episodes of hypoglycemia per week, including a total of eight episodes resulting in seizures, while on insulin. In contrast, no severe hypoglycemia was reported on glyburide. The patient's basal C-peptide was undetectable on insulin therapy (

Certification examinations are the hallmark of contemporary postgraduate medical and surgical training. Some countries limit the examination to a written component, while others include a practical evaluation, which may include a detailed history and physical examination, or an observed structured clinical examination, composed of multiple stations (1). The objective of certification examinations is to determine whether trainees meet an acceptable set of standards that correspond to fitness to practice in a given specialty (2). In Canada, the Royal College of Physicians and Surgeons of Canada (RCPSC) and the College des Medecins du Quebec administer general paediatrics certification examinations in the 4th and 5th year of training, respectively. Excluding Quebec, Canada’s postgraduate training program in paediatrics is unique relative to other countries in that the 4th year of training marks the fulfillment of training requirements for certification in general paediatrics, regardless of whether trainees continue in a general paediatrics program or begin the 1st year of a paediatric subspecialty training program. Approximately one-half of paediatric trainees plan to complete subspecialty training (S Vohra, personal communication), with some beginning this training after three years of general paediatrics residency. Thus, the pool of candidates sitting the certification examinations are composed of a mix of individuals that include those completing four years of general paediatrics training and those finishing the 1st year of subspecialty training. As a result of this mixed candidate pool, discussion has ensued in recent years regarding the timing of the annual RCPSC certification examinations in general paediatrics. In the past, biannual examinations were held in the fall and spring allowing candidates in their 4th year of training to participate in either sitting. In the 2000/2001 academic year, the RCPSC reduced the available sittings to a single annual spring examination, occurring in tandem with a decision to change the practical portion of the examination to an observed structured clinical examination format from the traditional format of a detailed history, physical examination, investigation and treatment plan, and interpretation of results to the patient and the family. With a single examination offered late in the 4th year of training, trainees in subspecialty programs may be distracted from their training while studying for the general paediatrics examination. Thus, the RCPSC Paediatrics Committee recently considered moving the certification examination from the spring to the fall of 4th year of training (3). Certification examinations are a source of considerable stress to resident trainees (4). In formulating an opinion regarding the timing of an examination, the examiners would likely wish to minimize stress to assess residents’ knowledge and skill with maximum accuracy. Thus, the preferences of resident trainees anticipating the certification examination are relevant to examiners who believe that minimizing stress improves performance. The purpose of the present study was to determine Canadian-trained residents’ preferences of seasonal timing for the RCPSC general paediatrics certification examination.

To determine the outcomes of Canadian children with biliary atresia.Health records of infants born in Canada between January 1, 1985 and December 31, 1995 (ERA I) and between January 1, 1996 and December 31, 2002 (ERA II) who were diagnosed with biliary atresia at a university center were reviewed.349 patients were identified. Median patient age at time of the Kasai operation was 55 days. Median age at last follow-up was 70 months. The 4-year patient survival rate was 81% (ERA I = 74%; ERA II = 82%; P = not significant [NS]). Kaplan-Meier survival curves for patients undergoing the Kasai operation at ageor = 30, 31 to 90, and90 days showed 49%, 36%, and 23%, respectively, were alive with their native liver at 4 years (P.0001). This difference continued through 10 years. The 2- and 4-year post-Kasai operation native liver survival rates were 47% and 35% for ERA I and 46% and 39% for ERA II (P = NS). A total of 210 patients (60%) underwent liver transplantation; the 4-year transplantation survival rate was 82% (ERA I = 83%, ERA II = 82%; P = NS).This is the largest outcome series of North American children with biliary atresia at a time when liver transplantation was available. Results in each era were similar. Late referral remains problematic; policies to ensure timely diagnosis are required. Nevertheless, outcomes in Canada are comparable to those reported elsewhere.

Mutations in the gene encoding the cell cycle inhibitor CDKN2A have been identified in some melanoma kindreds linked to 9p21. However, many such families show no evidence of mutations in the coding regions of CDKN2A. In this study, we examined whether two other potential tumor suppressors, CDKN2B and p19ARF, which also map within the 9p21 region, play a role in the development of familial melanoma. We found no mutations in the coding regions of either gene in melanoma-prone families with evidence of linkage to 9p21. We conclude either that another melanoma susceptibility gene exists within this chromosomal area or that mutations in noncoding regions of CDKN2A, CDKN2B, or p19ARF predispose to melanoma.