Diverse pathways to care for children with stomach pain in a Canadian cosmopolitan city.

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.

Inflammatory bowel disease and T cell lymphopenia in G6PC3 deficiency.

PURPOSE: 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). METHODS: Histological examination was conducted on all biopsy specimens. Immunophenotyping and lymphocyte proliferation assays were performed. Immunoglobulin levels and vaccine responses were measured. RESULTS: The patient showed persistent global T cell lymphopenia, with only 8 to 13 % of thymic naive CD31(+)CD45RA(+) cells among CD4 T cells (normal range 27-60 %). Proliferation assays and vaccine responses were within normal limits. The gastrointestinal inflammatory lesions were very closely related to those of glycogen storage disease type 1b, with a Crohn's-like appearance but without granuloma or increased cryptic abscesses. The gastrointestinal disease responded to infliximab therapy. These findings were associated with a polyclonal hypergammaglobuliemia G. CONCLUSION: G6PC3 deficiency may present with inflammatory bowel disease and T cell lymphopenia. The diagnosis should thus be considered in a patient with chronic congenital neutropenia and gastrointestinal symptoms. Patients with confirmed disease should also undergo T cell phenotyping to rule out cellular immunodeficiency.

Uncertainty, culture and pathways to care in paediatric functional gastrointestinal disorders.

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.

Chylomicron retention disease: a long term study of two cohorts.

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+/-1.7 years) and 9 from Quebec, Canada (X age 12+/-2.5 years) 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 4.9 years for the French cohort and of 10.6 years 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+/-0.04 years) than in the French one (6.3+/-1.3 years) 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 (NAIC)]. / La cirrhose amérindienne infantile.

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.

Childhood functional gastrointestinal disorders: child/adolescent.

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.

Development and preliminary validation of the questionnaire on pediatric gastrointestinal symptoms to assess functional gastrointestinal disorders in children and adolescents.

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.

Validation of the pediatric Rome II criteria for functional gastrointestinal disorders using the questionnaire on pediatric gastrointestinal symptoms.

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.