In Montreal, Quebec, 31% of the population is born outside Canada. Yet, only 9% of patient consultations for symptoms associated with functional gastrointestinal disorders (FGIDs) are from immigrants at the Paediatric Gastroenterology Clinic at Sainte-Justine's University Hospital Centre. This discrepancy inspired a multidisciplinary exploratory study (anthropological and paediatric) to examine the sociological, interpretative and pragmatic aspects of immigrant and non-immigrant patients and family life with FGIDs. This paper examines the discrepancy between immigrant and non-immigrant paediatric patients with FGIDs and presents the different pathways to care utilised by families. Semi-structured interviews were carried out between November 2008 and June 2009, with children and their parents. In total, 38 families were recruited: with 27 families (including a child experiencing abdominal pain, his/her siblings, mother and/or father as well as any other significant individual living in the family home) from the community and 11 from the paediatric gastroenterology clinic. A comparative analysis between the immigrant and non-immigrant groups focused on perceptions, meanings and actions taken to relieve/alleviate symptoms. Immigrant and non-immigrant families alternate and combine different therapeutic environments: home, alternative healing therapies and medical paths to care. Our analysis suggests that culture (as a set of values, beliefs and ways of being), as well as social interactions within family life and the clinic, shape pathways to care. The analysis highlights the centrality of receptiveness--and more widely the social dimensions--of all medical encounters. Treatment disparities between immigrant and non-immigrant families in pathways to care help us to understand these patients' social world and the intricate relationships between values and social milieux, between culture, practices of symptom management and rationales guiding diverse therapeutic actions.

G6PC3 deficiency presents as a complex and heterogeneous syndrome that classically associates severe congenital neutropenia with cardiac and urogenital developmental defects. Here we investigate the findings of T cell lymphopenia and inflammatory bowel disease in a child with G6PC3 deficiency due to compound heterozygous mutations in intron 3 (c.IVS3-1 G>A) and exon 6 (c.G778G/C; p.Gly260/Arg).

This paper examines how children and families of diverse ethnic backgrounds perceive, understand and treat symptoms related to functional gastrointestinal disorders (FGIDs). It is questioned how different ways of dealing with medical uncertainty (symptoms, diagnosis) may influence treatment pathways. Semi-structured interviews were conducted with 43 children of 38 family groups of immigrant and non-immigrant backgrounds. The analysis takes into account (a) the perceived symptoms; (b) the meaning attributed to them; and (c) the actions taken to relieve them. The social and cultural contexts that permeate these symptoms, meanings and actions were also examined. It is found that, in light of diagnostic and therapeutic uncertainty, non-immigrant families are more likely to consult health professionals. Immigrant families more readily rely upon home remedies, family support and, for some, religious beliefs to temper the uncertainty linked to abdominal pain. Furthermore, non-immigrant children lead a greater quest for legitimacy of their pain at home while most immigrant families place stomach aches in the range of normality. Intracultural variations nuance these findings, as well as family dynamics. It is concluded that different courses of action and family dynamics reveal that uncertainty is dealt with in multiple ways. Family support, the network, and trust in a child's expression of distress are key elements in order to tolerate uncertainty. Lastly, the medical encounter is described as a space permeated with relational uncertainty given the different registers of expression inherent within a cosmopolitan milieu. Narrative practices being an essential dynamic of this encounter, it is questioned whether families' voices are equally heard in these clinical spaces.

Irritable Bowel Syndrome (IBS) is known to affect 10 to 20% of the adult population. In the absence of "red flags" (symptoms suggestive of organic disease) and abnormal findings during physical examination, typical IBS symptoms, together with a limited number of relevant investigative tests, have high diagnostic value(1). A recent study by Thompson et al. confirms that although most people do not consult for IBS, those that do constitute 1/3 of patients presenting with gastrointestinal symptoms to a family physician (2,3). In fact, IBS represents the vast majority of functional gastrointestinal disorders seen by general practitioners. In the same study, it was demonstrated that among IBS patients, a major predictor of referral to a specialist is denial of the influence of stress on their gastrointestinal symptoms(2). Other predictors include the severity of diarrhea, duration of symptoms, and number of tests performed. It has also been shown that more psychological and psychiatric disorders are found in IBS patients consulting a gastroenterologist than those seen by a general practitioner(4). When compared to the vast knowledge pertaining to adults with IBS, very little is known about IBS in the pediatric population. Since Apley and Nash's description in 1958 of the "Recurrent Abdominal Pain" (RAP) syndrome in children, research indicates that 1020% of school-aged youngsters experience abdominal pain frequently and severely enough to affect their daily activities(5). More recently, clinical and laboratory observations have helped distinguish organic diseases from functional disorders.

JPGN Volume 51, N G lycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by a deficiency of glycogen branching enzyme (GBE), which results in the formation of an amylopectin-like polysaccharide characterized by fewer branching points, more a1to 4-linked glucose units, and longer outer chains. This abnormal, insoluble glycogen accumulates in liver, heart, muscle, nervous system, and skin. GSD IV is a heterogeneous disorder in terms of tissue involvement, age at onset, and clinical presentation. In the classical hepatic form, patients present within the first months of life with hepatosplenomegaly and failure to thrive followed by progressive liver cirrhosis with portal hypertension and liver failure leading to death by 5 years of age. The only effective therapeutic option for these patients is liver transplantation (LT). A total of 18 patients who underwent LT for GSD IV have been reported (1). A major concern for these patients is the risk of progression of the disease in other organs such as heart, muscle, or nervous system. A majority of patients who had LT for GSD IV did not have any cardiac or neuromuscular complication during the follow-up (2). Moreover, a diminution of cardiac amylopectin-like deposits has been observed for 1 patient, attributed to microchimerism (3). However, 2 children had a progressive fatal cardiac failure after LT, attributed to massive amylopectin-like deposits in cardiac muscle (4,5). We present the experience of our center, involving 2 children who underwent LT for GSD IV and died 6.3 years and 1 year after the transplant because of extrahepatic progression of the disease with amylopectin-like deposits in several tissues, especially in the heart.

Lipoprotein assembly is critical for the intestinal absorption of dietary lipids and of fat-soluble vitamins. Through their inhibition of chylomicron secretion, mutations of the Sar1B gene coding for Sar1 GTPase are associated with chylomicron retention disease (CRD). The aim of this study was to describe the phenotypic expression of CRD in two clinically and genetically well characterized cohorts, and to compare their long term evolution. The study in 7 children from France (X¯ age 11.3±1.7years) and 9 from Quebec, Canada (X¯ age 12±2.5years) involved data collection from medical records for growth evaluation, neurological and ophthalmological status as well as bone density over an average follow-up period of 4.9years for the French cohort and of 10.6years for the Canadian one. All CRD patients presented within the first few months of life with diarrhea and failure to thrive. Severe hypocholesterolemia coupled with normal triglycerides was associated with low LDL and HDL-cholesterol, as well as with low apolipoproteins A-I and B. Varying degrees of essential fatty acid and of vitamin E deficiency were observed. The earlier diagnosis in the Canadian cohort (1.3±0.04years) than in the French one (6.3±1.3years) was unrelated with the severity of presenting symptoms. The fact that the disease had more impact on growth and bone density in the latter group may be related to delayed diagnosis of the disease. Vitamin E deficiency led to functional neurological and ophthalmic changes in a small number of patients but only one developed areflexia. Finally, genotype–phenotype correlation is not obvious in our cohort with CRD; even if, the Canadian subjects with the allele 409G>A had a more severe degree (P<0.001) of hypocholesterolemia than the other patients, many clinical data are inconsistent with a hypothetical genotype–phenotype correlation. This study provides new insights on the phenotypic expression of CRD over time and emphasizes the need to screen the lipid profile of infants with chronic diarrhea and failure to thrive.

North American Indian childhood cirrhosis is a distinct form of neonatal familial cholestasis. To date, it has only been described in aboriginal children from northwestern Quebec. The disease rapidly evolves into cirrhosis with early portal hypertension and bleeding from esophageal varices. Twelve of 36 children followed at l'Hôpital Ste-Justine since 1970 received a liver transplant. As of now, there are 17 living NAIC patients, 6 of whom had liver transplantation. We mapped NAIC to chromosome 16q22, and identified mutations in CIRH1A in patients. All are homozygous for the R565W mutation in cirhin, a WD40 repeat protein of unknown function. We showed that cirhin is a resident in the nucleolus. Cirhin interacts with Cirip, a functional, alternative splice variant of the HIVEP1 protein. Their interaction indicates synergistic action. The complete inactivation of mouse homolog, tex292 is likely embryonic lethal. The continued collaboration between patients, their families, clinicians and researchers that has helped to identify the disease gene and to develop a diagnostic test now focuses on finding a new treatment for this unique disease affecting First Nations children from Québec.

North American Indian childhood cirrhosis is a distinct form of neonatal familial cholestasis. To date, it has only been described in aboriginal children from northwestern Quebec. The disease rapidly evolves into cirrhosis with early portal hypertension and bleeding from esophageal varices. Twelve of 36 children followed at l'Hopital Ste-Justine since 1970 received a liver transplant. As of now, there are 17 living NAIC patients, 6 of whom had liver transplantation. We mapped NAIC to chromosome 16q22, and identified mutations in ClRH1A in patients. All are homozygous for the R565W mutation in cirhin, a WD40 repeat protein of unknown function. We showed that cirhin is a resident in the nucleolus. Cirhin interacts with Cirip, a functional, alternative splice variant of the HIVEP1 protein. Their interaction indicates synergistic action. The complete inactivation of mouse homolog, tex292 is likely embryonic lethal. The continued collaboration between patients, their families, clinicians and researchers that has helped to identify the disease gene and to develop a diagnostic test now focuses on finding a new treatment for this unique disease affecting First Nations children from Quebec.

The Rome II pediatric criteria for functional gastrointestinal disorders (FGIDs) were defined in 1999 to be used as diagnostic tools and to advance empirical research. In this document, the Rome III Committee aimed to update and revise the pediatric criteria. The decision-making process to define Rome III criteria for children aged 4-18 years consisted of arriving at a consensus based on clinical experience and review of the literature. Whenever possible, changes in the criteria were evidence based. Otherwise, clinical experience was used when deemed necessary. Few publications addressing Rome II criteria were available to guide the committee. The clinical entities addressed include (1) cyclic vomiting syndrome, rumination, and aerophagia; 2) abdominal pain-related FGIDs including functional dyspepsia, irritable bowel syndrome, abdominal migraine, and functional abdominal pain; and (3) functional constipation and non-retentive fecal incontinence. Adolescent rumination and functional constipation are newly defined for this age group, and the previously designated functional fecal retention is now included in functional constipation. Other notable changes from Rome II to Rome III criteria include the decrease from 3 to 2 months in required symptom duration for noncyclic disorders and the modification of the criteria for functional abdominal pain. The Rome III child and adolescent criteria represent an evolution from Rome II and should prove useful for both clinicians and researchers dealing with childhood FGIDs. The future availability of additional evidence-based data will likely continue to modify pediatric criteria for FGIDs.

OBJECTIVE:To validate the pediatric Rome II criteria for functional gastrointestinal disorders (FGIDs) using the Questionnaire on Pediatric Gastrointestinal Symptoms (QPGS).METHODS:Subjects were 315 consecutive new patients, 4 to 18 years of age, seen in a tertiary care clinic and classified by pediatric gastroenterologists as having a functional problem. Patients and parents separately completed the QPGS before medical consultation. Diagnoses were derived using computer algorithms reflecting the Rome II criteria for pediatric FGIDs. Convergent validity was assessed by prevalence of diagnoses and internal validity using factor analysis to confirm symptom clusters of the criteria. Separate analyses were performed for 4 to 9 and 10 to 18 year olds, and for diagnoses based on parent and child reports.RESULTS:In both age groups, the most prevalent diagnoses were irritable bowel syndrome (IBS) (22.0%, 35.5%), functional constipation (19.0%, 15.2%), and functional dyspepsia (FD) (13.6%, 10.1%). Parent-child concordance on diagnoses was generally poor. Factor analyses supported the internal validity of FD and of IBS symptoms except for relief with defecation. Although functional abdominal pain syndrome and abdominal migraine occurred rarely, symptom clustering within each diagnosis supports their validity. Among patients with abdominal pain, duration was of at least 3 months in most, and pain was of long duration and severe in at least one third.CONCLUSION:More than half of patients classified as having a functional problem met at least one pediatric Rome II diagnosis for FGIDs. This study offers initial support for the validity of several of the criteria.

Objective: The aim of this study was to develop a questionnaire assessing symptoms associated with pediatric functional gastrointestinal disorders (FGIDs) and to provide preliminary evidence for its validity and reliability in a tertiary care setting. Methods: The Questionnaire on Pediatric Gastrointestinal Symptoms (QPGS) was designed as both a parent report and child self-report measure based on the pediatric Rome II criteria for FGIDs. It was constructed in English, translated into French, and pilot tested in both languages. Initial validation was performed using the French version. Participants were 315 consecutive new patients aged 4 to 18, and their parents, presenting to a gastroenterology clinic and classified as having a functional problem. Content validity, item discrimination capacity, and reliability (parent-child concordance and temporal stability) were examined. Results: Analyses of parent and child reports indicated that all items were pertinent and variably distributed. Although children were reliable reporters, up to 42% of parents did not know about their children's gastrointestinal functioning. As many as 60% of parents of children 10 to 18 could not respond to questions about defecation and subjective symptoms. Concordance was generally fair to good, with Kappas and intraclass correlations of 0.40 to 0.70 on most items. Test-retest reliability was moderate to good for the majority of items. Conclusion: This study supports the content validity of the QPGS. Form A is a reliable measure for parents of children 4 to 9 years old, but the child self-report Form C appears to be more reliable for 10 to 18 year olds.

BEFORE ROME II In the pediatric literature, functional gastrointestinal disorders (FGIDs), and recurrent abdominal pain in particular, have received a fair amount of attention, but it is noteworthy that consensus in their definitions remains elusive. In 1958, Apley established the first diagnostic criteria for recurrent abdominal pain in children. Since then, progress made in investigative tools for this group of patients has led to the identification of more organic etiologies, accounting for 25% to 30% of patients presenting to pediatric gastroenterology clinics. Fifteen years ago, our colleagues in adult medicine established the Rome I criteria for FGIDs in adults. These criteria proved to be of great help in research, by facilitating the selection of homogenous groups of patients. Pathophysiological studies on irritable bowel syndrome (IBS) in particular have led to new therapeutic approaches as varied as antidepressants, medications acting on 5-HT receptors, and cognitive-behavioral therapy. The decision of pediatricians to embark on the adventure of the Rome II process was based on the premise that establishing criteria for FGIDs in children would stimulate the same progress in understanding and treating pediatric patients as it did in adults, and that it would provide the tools to trace the evolution of these disorders from childhood to adolescence and adulthood (1). AFTER ROME II One epidemiological study using Rome II criteria was conducted in Italy in 9,660 children, from birth to 12 years, presenting to their primary care pediatricians. Prevalence of IBS (0.21%) was low in this rather young population when compared to the 10.1% found in American middle and high school children using Rome I criteria. In children consulting for the first time at a tertiary care clinic, abdominal pain was present in more that 90% of patients who received a non-specific diagnosis of FGID. Among the nearly 1,000 patients in this study, a diagnosis of FGID was given to 50.5 % of patients aged 4 to 18 years (2). Different studies have explored the prevalence of FGID diagnoses according to pediatric Rome II criteria. Table 1 summarizes some of the findings in tertiary care clinics. Variations in prevalence are due to the degree of specialization of the various clinics (abdominal pain, constipation or gastroenterology clinics), which tend to attract more patients with defined disorders.TABLE 1: Prevalence of Diagnoses of Pediatric FGIDs According to the Pediatric Rome II Criteria in Tertiary Care ClinicsTwo other factors are of utmost importance in determining prevalence and are rarely discussed in the pediatric literature. These are the method used to obtain information about symptoms and the adequacy of informants. As can be seen, using the same instrument (Questionnaire on Pediatric Gastrointestinal Symptoms), studies by Walker and et al. reported higher prevalence of FGIDs diagnoses according to Rome II criteria than the Caplan et al. study (2-3). This was expected since the population studied by Walker et al. only included children presenting with recurrent abdominal pain. Two studies specifically explored prevalence of defecation disorders and found that Rome II criteria were too strict when compared to physicians' diagnoses or to what they called “classic criteria” (4-5). In these specialized clinics, prevalence of defecation disorders is expected to be higher than in gastroenterology clinics. In the Loening-Baucke study, only 41% of encopretic children fit Rome II criteria for functional fecal retention. Of particular interest to this review was the observation in Voskuijl's study that some details about children defecation habits were difficult to elicit from parents, raising important questions about their adequacy as informants. Two studies in children selected according to Rome II criteria have shown rectal hyper-sensitivity in children with IBS, but not in children with functional abdominal pain syndrome. This confirmed what has been shown in adults, providing evidence of construct validity as well as convergent validity for the pediatric criteria. Preliminary validation of the Rome II criteria, using factor analysis, appears to confirm their existence in a pediatric population presenting to a gastroenterology clinic. However these findings have yet to be replicated in epidemiological studies using validated questionnaires (2). Whether classifying abdominal pain patients into subgroups will help patients and clinicians remains an empirical question, but as already mentioned, data in the adult literature are indeed promising.

Journal of Pediatric Gastroenterology and NutritionVolume 24, Issue 4 p. 474-474 Annual Meeting of the European Society of Pediatric Gastroenterology and Nutrition Thessaloniki, May 21–24, 1997 CYCLICAL EXCLUSIVE SEMI-ELEMENTAL DIET THERAPY NORMALIZES GROWTH AND DECREASES RELAPSE RATE IN PEDIATRIC CROHN'S DISEASE D. Herzog, D. Herzog Children's Hospital St. Gallen, SwitzerlandSearch for more papers by this authorC. Deslanders, C. Deslanders Gastro. and Nutr. Div., Dept Pediatrics, Ste-Justine Hosp., U. MontrealSearch for more papers by this authorS. Martin, S. Martin Gastro. and Nutr. Div., Dept Pediatrics, Ste-Justine Hosp., U. MontrealSearch for more papers by this authorA. Rasquin, A. Rasquin Gastro. and Nutr. Div., Dept Pediatrics, Ste-Justine Hosp., U. MontrealSearch for more papers by this authorF. Alvarez, F. Alvarez Gastro. and Nutr. Div., Dept Pediatrics, Ste-Justine Hosp., U. MontrealSearch for more papers by this authorL. Bouthillier, L. Bouthillier Gastro. and Nutr. Div., Dept Pediatrics, Ste-Justine Hosp., U. MontrealSearch for more papers by this authorF. Glorieux, F. Glorieux Shriners Hosp. for Crippled Children, Montreal, CanadaSearch for more papers by this authorE. G. Seidman, E. G. Seidman Gastro. and Nutr. Div., Dept Pediatrics, Ste-Justine Hosp., U. MontrealSearch for more papers by this author D. Herzog, D. Herzog Children's Hospital St. Gallen, SwitzerlandSearch for more papers by this authorC. Deslanders, C. Deslanders Gastro. and Nutr. Div., Dept Pediatrics, Ste-Justine Hosp., U. MontrealSearch for more papers by this authorS. Martin, S. Martin Gastro. and Nutr. Div., Dept Pediatrics, Ste-Justine Hosp., U. MontrealSearch for more papers by this authorA. Rasquin, A. Rasquin Gastro. and Nutr. Div., Dept Pediatrics, Ste-Justine Hosp., U. MontrealSearch for more papers by this authorF. Alvarez, F. Alvarez Gastro. and Nutr. Div., Dept Pediatrics, Ste-Justine Hosp., U. MontrealSearch for more papers by this authorL. Bouthillier, L. Bouthillier Gastro. and Nutr. Div., Dept Pediatrics, Ste-Justine Hosp., U. MontrealSearch for more papers by this authorF. Glorieux, F. Glorieux Shriners Hosp. for Crippled Children, Montreal, CanadaSearch for more papers by this authorE. G. Seidman, E. G. Seidman Gastro. and Nutr. Div., Dept Pediatrics, Ste-Justine Hosp., U. MontrealSearch for more papers by this author First published: 01 April 1997 https://doi.org/10.1002/j.1536-4801.1997.tb00571.xRead the full textAbout ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. Volume24, Issue4April 1997Pages 474-474 RelatedInformation