Frequency of Abnormal Glucose Tolerance Test Suggestive of Dumping Syndrome Following Oesophageal Atresia Repair.

OBJECTIVES: Dumping syndrome (DS) is mostly described as a complication of antireflux surgery in oesophageal atresia (OA) but we previously reported 2 cases of DS before any other surgery in infants operated at birth for OA. The objectives of the present study were to assess the prevalence of abnormal oral glucose tolerance test (OGTT) at 3 months of age in infants operated at birth with type C OA, to describe symptoms and clinical features, and to assess risk factors in infants presenting with abnormal OGTT suggestive of DS. METHODS: A prospective case series study including infants with type C OA without fundoplication, born between 2013 and 2016 in 8 centres was conducted. An OGTT was performed between 2.5 and 3.5 months. Abnormal OGTT was defined as early hyperglycaemia (>1.8 g/L until 30 minutes; >1.7 g/L between 30 minutes and 2 hours; and >1.4 g/L between 2 and 3 hours) and/or late hypoglycaemia (<0.6 g/L after 2 hours). RESULTS: Eleven of the 38 OGTT (29%) showed abnormalities. None of the patients' demographics (birth weight, sex, prematurity, associated malformation, use of enteral nutrition) or conditions of the surgery tested was associated with abnormal OGTT. No clinical sign was specific for it. CONCLUSIONS: DS should be considered in every infant operated at birth for OA presenting with digestive symptoms. No risk factor was predictive for abnormal OGTT. An OGTT to screen for potential DS around 3 months of age should be considered in infants born with EA. CLINICAL TRIAL NAME AND REGISTRATION NUMBER: DUMPING NCT02525705.

Inflammatory Bowel Diseases and School Absenteeism.

OBJECTIVES: Inflammatory bowel diseases (IBDs) are chronic diseases which negatively affect the schooling of children. The aim is to analyze school absenteeism and its causes in children followed for IBD. METHODS: A prospective multicenter study of IBD patients aged from 5 to 18 years old, from September 2016 to June 2017. Data on absenteeism and its causes were collected via a monthly questionnaire completed by patients or their family by mail. The results were compared with existing data supplied by the school authorities (497 students without IBD divided by class). RESULTS: A total of 106 patients (62 boys), median age of 14 (5-18), were included. The global response rate was 83.1%. The patients with IBD were absent an average of 4.8% ±â€Š5.5% of school days during the school year, against 3.2% ±â€Š1.6% for non IBD group (P = 0.034). Digestive disorders accounted for 34% of the causes of absenteeism. Approximately 27% of the absences were due to scheduled events (hospitalizations, endoscopy, or consultations). By excluding the absences for scheduled care, the rate of school absenteeism of patients with IBD is significantly lower than that of non-IBD group. CONCLUSION: Children with IBD are more frequently absent from school than non-IBD group. The main cause of school absenteeism appears to be associated with the disease itself. The share of scheduled absenteeism is quite large. The organization and scheduling of the patients' care path must be a priority to maximally limit the negative impact of their disease on the patients' schooling.

Management of Central Venous Catheters in Children and Adults on Home Parenteral Nutrition: A French Survey of Current Practice.

Although central venous catheter (CVC)-related thrombosis (CRT) is a severe complication of home parenteral nutrition (HPN), the amount and quality of data in the diagnosis and management of CRT remain low. We aimed to describe current practices regarding CVC management in French adult and pediatric HPN centers, with a focus on CVC obstruction and CRT. Current practices regarding CVC management in patients on HPN were collected by an online-based cross-sectional survey sent to expert physicians of French HPN centers. We compared these practices to published guidelines and searched for differences between pediatric and adult HPN centers' practices. Finally, we examined the heterogeneity of practices in both pediatric and adult HPN centers. The survey was completed by 34 centers, including 21 pediatric and 13 adult centers. We found a considerable heterogeneity, especially in the responses of pediatric centers. On some points, the centers' responses differed from the current guidelines. We also found significant differences between practices in adult and pediatric centers. We conclude that the management of CVC and CRT in patients on HPN is a serious and complex situation for which there is significant heterogeneity between HPN centers. These findings highlight the need for more well-designed clinical trials in this field.

Functional abdominal pain disorders and patient- and parent-reported outcomes in children with inflammatory bowel disease in remission.

BACKGROUND: Chronic abdominal pain occurs frequently in pediatric patients with inflammatory bowel disease (IBD) in remission. AIMS: To assess the prevalence and factors associated with Functional Abdominal Pain Disorders among IBD children in remission (IBD-FAPD). METHODS: Patients with IBD for > 1 year, in clinical remission for ≥ 3 months were recruited from a National IBD network. IBD-FAPDs were assessed using the Rome III questionnaire criteria. Patient- or parent- reported outcomes were assessed. RESULTS: Among 102 included patients, 57 (56%) were boys, mean age (DS) was 15.0 (± 2.0) years and 75 (74%) had Crohn's disease. Twenty-two patients (22%) had at least one Functional Gastrointestinal Disorder among which 17 had at least one IBD-FAPD. Past severity of disease or treatments received and level of remission were not significantly associated with IBD-FAPD. Patients with IBD-FAPD reported more fatigue (peds-FACIT-F: 35.9 ± 9.8 vs. 43.0 ± 6.9, p = 0.01) and a lower HR-QoL (IMPACT III: 76.5 ± 9.6 vs. 81.6 ± 9.2, p = 0.04) than patients without FAPD, and their parents had higher levels of State and Trait anxiety than the other parents. CONCLUSIONS: Prevalence of IBD-FAPD was 17%. IBD-FAPD was not associated with past severity of disease, but with fatigue and lower HR-QoL.

Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing.

Chronic intestinal pseudoobstruction (CIPO) is a severe form of intestinal dysmotility, and patients often undergo iterative abdominal surgeries and require parenteral nutrition. Several genes are known to be responsible for this pathology, including ACTG2 (autosomal dominant) and MYH11 (autosomal recessive). We report the first case of unexpected trio medical exome sequencing diagnosis of mucopolysaccharidosis type I (MPS-I) in a patient with an early CIPO. There was no clinical suspicion of MPS-I at the time of the prescription. It allowed biochemical confirmation of MPS-I, expert clinical evaluation and early treatment. Enzyme replacement therapy (ERT) with laronidase was started at 9 months old, and hematopoietic stem cell transplantation was carried out at 10 months and a half. The patient also had a 1.7 mb heterozygous deletion in chromosomal region 16p13.11p12.3, comprising several genes, including MYH11, paternally inherited. Her father has no symptoms of CIPO or other digestive symptoms. One previous association of CIPO and MPS-I was reported in 1986. Moreover, the number of incidental findings of inherited metabolic disorders with therapeutic impact will inevitably increase as pangenomic analyses become cheaper and easily available.

Contribution of capsule endoscopy to Peutz-Jeghers syndrome management in children.

BACKGROUND: Capsule endoscopy is recommended for children with Peutz-Jeghers syndrome as young as 8 years of age. Aim of our study was to evaluate the contribution of capsule endoscopy in managing risk of further obstructive complications. METHODS: A retrospective analysis of 27 children who received at least 1 capsule endoscopy was conducted. Peutz-Jeghers syndrome was diagnosed based on the presence of an STK11 gene mutation or on the association of a hamartoma with 2 of 3 criteria (family history, mucocutaneous pigmentation, small bowel polyposis). RESULTS: Thirty-seven capsule endoscopies were performed in 27 patients. The median age at first endoscopy was 11.4 years (range, 5.4-20.9). Jejunal polyps were found in 72% and ileal polyps in 55% of capsules. The original recommendations were followed 20/30 times. Three gastroscopies, 4 colonoscopies, 7 double balloon enteroscopies and 1 intra-operative enteroscopy were performed after the capsules. These procedures revealed jejunal polyps in 9/9 cases (8/9 resected) and ileal polyps in 3/5 (all resected). One intussusception occurred 8.4 months after the capsule endoscopy and required surgical resection. CONCLUSION: Capsule endoscopy is easily feasible in Peutz Jeghers syndrome, but the practice of systematic and repeated procedures needs to be validated prospectively.