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Background: Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental conditions whose etiopathogenesis derives from a complex interaction between genetic liability and environmental factors. In this framework, mounting evidence suggests that immune system dysfunction could be a risk factor contributing to the development of ASD in at least a subpopulation of individuals. In particular, some studies suggest an association between celiac disease (CD)-a long-term autoimmune disorder that primarily affects the small intestine triggered by the ingestion of gluten-and ASD, while others hypothesized a random link. This investigation aimed to evaluate the prevalence of CD in a large sample of school-aged children with ASD and to characterize their clinical profile., Methods: Medical records of 405 children with ASD aged 5-11 years (mean age: 7.2 years; SD: 1.8 years) consecutively referred to a tertiary-care university hospital between January 2014 and December 2018 were reviewed; among them, 362 had carried out serological testing for CD., Results: Nine patients with positive CD serology were identified, eight of which satisfied the criteria for CD diagnosis. The estimated CD prevalence in ASD children was 2.18% (95% CI, 0.8-3.7), which was not statistically different (1.58%; p = 0.36) from that of an Italian population, matched for age range, considered as a control group (95% CI, 1.26-1.90). Three out of the eight ASD patients with CD did not have any symptoms suggestive of CD., Conclusions: Our findings did not show a higher prevalence of CD in ASD children than in the control population, but could suggest the utility of routine CD screening, given its frequent atypical clinical presentation in this population.

We aimed to assess Health-Related Quality of Life (HRQoL) of Italian children and their parents with coeliac disease (CD) using the Coeliac Disease Dutch Questionnaire (CDDUX). The CDDUX underwent a cross-cultural adaptation in a multi-step process, according to international guidelines. A total of 224 children aged between 8-18 years and their parents were prospectively recruited. Cronbach α coefficient was determined as a measure of internal consistency of the questionnaire and inter-children/parent reliability by intraclass correlation coefficient. Univariate and bivariate regression models were used to evaluate correlations between clinical variables and children and parents subclasses of CDDUX and overall mean Paediatric Quality of Life Inventory (PedsQL). The Italian CDDUX proved to be valid and reliable, mean CDDUX total score revealing a neutral evaluation of the quality of life in children 52.6 ± 17.2 and parents 49.5 ± 17.9 ( p = 0.07) with strong correlation with PedsQL. The only clinical variable which appeared to affect significantly quality of life both in children and parents was the lower age. A comparison with our results showed remarkable differences in the HRQoL of populations of various nationalities. The Italian version of the CDDUX questionnaire is a simple and reliable tool for assessing the HRQoL in children and adolescents with CD.

Background and Aims: The only treatment for celiac disease (CD) is strict, lifelong adherence to a gluten-free (GF) diet. To date, there are contrasting data concerning the nutritional adequacy of GF products and diet. There have been no studies that have assessed the adherence of individuals with CD to a Mediterranean diet (MD), a protective dietary regimen against major non-communicable diseases (NCDs). Therefore, we examined the adherence to an MD of a group of Italian individuals with CD and compared it with that of a healthy control group., Methods and Results: In a cross-sectional study, a sample of individuals with CD and a group of healthy subjects were included. The dietary habits of all participants were recorded using a validated food frequency questionnaire, and the adherence to an MD was determined using the Italian Mediterranean Index. Typical Mediterranean food consumption was not significantly different between individuals with CD and the healthy participants, except for fruits (P = 0.017). However, individuals with CD consumed significantly higher amounts of potatoes (P = 0.003) and red and processed meat (P = 0.005) than healthy participants. The resulting mean Italian Mediterranean Index was significantly higher in healthy participants than in individuals with CD (P < 0.001)., Conclusion: The results raise questions concerning the food choices of individuals with CD, suggesting the need of encouraging them to make better food choices more in line with an MD, which would improve their nutritional status and better protect them from NCDs at long term., Protocol Registration: ClinicalTrials.gov (ID NCT01975155) on November 4 2013., (Copyright © 2018 The Italian Society of Diabetology, the Italian Society for the Study of Atherosclerosis, the Italian Society of Human Nutrition, and the Department of Clinical Medicine and Surgery, Federico II University. Published by Elsevier B.V. All rights reserved.)

Background: Few studies investigated factors influencing the quality of life of children with celiac disease on a gluten-free diet., Aims: To investigate the impact of the gluten-free diet on the psycho-physical well-being of celiac children., Methods: In this cross-sectional study, we interviewed 76 celiac and 143 non-celiac children (2-18 years) by using a non-disease specific questionnaire (Pediatric Quality of Life Inventory Test) and we explored the impact of the diet on social life with an open-ended questionnaire. Scores were compared by Wilcoxon rank-sum test. A quantile regression analysis was used to evaluate the impact of celiac disease on score distribution., Results: No significant differences in quality of life were found between the two groups (total score: 84.1 (81.1-87.2) vs 81.5 (79.7-83.4), median (95% CI), patients and controls respectively, p=0.4). Treatment positively affected quality of life in children that showed "intermediate" scores in the Pediatric Quality of Life Inventory Test. Lowest scores were observed in children reporting a higher number of diet difficulties or co-morbidities., Conclusions: Although celiac patients showed an overall good quality of life in comparison with a control group, by using appropriate analytical methods we elicited specific factors contributing to a lower quality of life in patients, such as co-morbidities and difficulties with the diet., (Copyright © 2015 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.)

Background: In patients with treated celiac disease (CD), the ingestion of gluten traces contained in gluten-free (GF) wheat substitutes (eg, GF bread, flour, and pasta) could cause persisting intestinal mucosal damage., Objective: The objective was to evaluate the proportion of CD patients at risk of mucosal damage due to the consumption of GF products in 4 European countries (Italy, Spain, Germany, and Norway)., Design: A probabilistic modeling approach was used to assess the risk of gluten intake at the population level. The input variables were 1) consumption of GF products, 2) concentration of gluten traces in GF products determined by the sandwich R5 ELISA method, and 3) the gluten threshold for mucosal damage of 10 to 50 mg/d. Different population and product availability scenarios were examined for risk assessment., Results: The gluten content of 205 commercially available GF products ranged between <5 and 27.8 mg/kg. Overall, 99.5% of the analyzed samples had a gluten concentration <20 mg/kg. Most (94%) had a gluten concentration below the limit of quantification (5 mg/kg). The mean percentage of the CD European population at risk of mucosal damage resulting from consumption of GF products ranged between 0.01 (Germany) and 0.15 (Italy) and remained very low, even in the worst-case scenario (<1%)., Conclusions: The adoption of a single gluten threshold (20 mg/kg) for gluten contamination is suggested. GF products in Europe constitute a very safe option for patients with CD. The dietary follow-up of CD patients should focus on other potential sources of gluten contamination.

Background: An association between coeliac disease (CD) and functional gastrointestinal disorders (FGIDs) has at present only been demonstrated in adults., Aims: To assess the prevalence of FGIDs at 1 year and the role of psychological aspects on the development of FGIDs in CD children., Methods: One-hundred consecutive CD children (36M and 64F) were followed up for 1 year. Fifty-six children (25M and 31F) represented the control group. All children and/or their parents completed validated questionnaires for GI symptoms, depression, and anxiety. GI symptoms at diagnosis and after 1 year of gluten-free diet (GFD) were compared., Results: Twenty-three/82 (28%) CD patients followed up prospectively, on GFD from at least 1 year, fulfilled the Rome III criteria for FGIDs compared with 5/56 (8.9%) controls (P = 0.008; χ² = 6.8; OR: 3.97; 95% CI: 1.40-11.21). Children complaining with GI symptoms alone [21/52 (40.3%)] more likely fulfilled Rome III criteria for FGIDs after 1 year of GFD than children with extra-intestinal symptoms (P = 0.045). CD children with FGDIs presented significantly higher anxiety and depression compared to CD children without FGIDs and controls (P = 0.02)., Conclusions: This study demonstrates that children with CD on a GFD for a year have a much higher prevalence of functional GI symptoms than do controls. Whether the risk is due to the residua of a chronic inflammatory process, and/or due to psychological factors remains to be further tested., (© 2011 Blackwell Publishing Ltd.)

Background: The aim of this study is to explore the association between celiac disease and menstrual cycle, gestation and puerperal disorders., Methods: The association between celiac disease and menstrual cycle, gestation and puerperal disorders in a sample of 62 childbearing age women (15-49 age) was assessed within an age and town of residence matched case-control study conducted in 2008. Main outcome measures were the presence of one or more disorders in menstrual cycle and the presence of one or more complication during pregnancy., Results: 62 celiac women (median age: 31.5, range: 17-49) and 186 healthy control (median age: 32.5, range: 15-49) were interviewed. A higher percentage of menstrual cycle disorders has been observed in celiac women. 19.4% frequency of amenorrhea was reported among celiac women versus 2.2% among healthy controls (OR = 33, 95% CI = 7.17-151.8;, p = 0.000). An association has been observed between celiac disease and oligomenorrhea, hypomenorrhea, dysmenorrhea and metrorrhagia (p < 0.05). The likelihood of having at least one complication during pregnancy has been estimated to be at least four times higher in celiac women than in healthy women (OR = 4.1, 95% CI = 2-8.6, p = 0.000). A significant correlation has emerged for celiac disease and threatened abortion, gestational hypertension, placenta abruption, severe anaemia, uterine hyperkinesia, intrauterine growth restriction (p < 0.001). A shorter gestation has on average been observed in celiac women together with a lower birth weight of celiac women babies (p < 0.001)., Conclusions: The occurrence of a significant correlation between celiac disease and reproductive disorders could suggest to consider celiac disease diagnostic procedures (serological screening) in women affected by these disorders.

A case of a young woman died in Italy during the first century AD is presented. She had short height (140 cm), clinical history of anemia, and a decreased bone mass with evidence of osteoporosis and bone fragility. The archeologic artifacts from the tomb and with the quality of burial architecture suggest that the tomb was built for a rich person in an area with extensive culture of wheat. The wellness of the area is supported by the lack of other bodies found with signs of malnutrition. Clinical presentation and the possible continuous exposure to wheat seem to suggest a case of celiac disease. This case could be the first case of this condition since that one described by Areteus of Cappadocia in 250 BC and could be helpful to clarify the phylogenetic tree of celiac disease.

Objectives: Cornelia de Lange syndrome (CdLS) is a dominantly inherited disorder characterized by growth and mental retardation, abnormalities of the upper limbs, gastroesophageal dysfunction, cardiac, ophthalmologic and genitourinary anomalies, hirsutism and characteristic facial features. Growth retardation, behavioural disturbances and gastro-intestinal manifestations can mimic coeliac disease (CD). Genetic conditions like Down, Williams and Turner syndromes can be associated to CD., Aim: To establish if gastro-intestinal signs and symptoms in CdLS patients are due to CD., Methods: Multiple duodenal biopsies were performed in 24 CdLS patients (mean age 12 years) during the endoscopic follow-up for gastro-esophageal reflux disease (GERD). Histological assessment was performed. Anthropometric parameters were recorded and plotted on the growth charts specific for CdLS patients. Antiendomysium and antitransglutaminase antibodies and HLA-DQ2/DQ8 were tested in all patients., Results: All CdLS patients were growth retarded, although weight and height were within the normal limits using the specific growth charts for CdLS. No histological abnormalities were noted in the intestinal biopsy specimens. Serum levels of antiendomysium and antitransglutaminase antibodies were always normal. The HLA-DQ2/DQ8 was absent in all patients., Conclusions: While a high prevalence of gastro-intestinal disorders has been described in CdLS children, no association with CdLS has been found.