Serological screening for Celiac Disease in 382 pre-schoolers with Autism Spectrum Disorder

Italian Journal of Pediatrics, Nov 2016

Background Recent investigations suggest a possible common genetic background between Autism Spectrum Disorders (ASD) and Celiac Disease (CD). However, studies regarding this association are scarce and often limited by the small sample sizes and/or large heterogeneity among ASD groups in terms of demographic and clinical features. The present study aims to investigate the overall CD prevalence (biopsy proven-CD patients plus screening detected tTG and EMA positive cases) in a large population of pre-schoolers with ASD referred to a tertiary care University Hospital. Methods We retrospectively collected data about 382 children (mean age: 46.97 ± 13.55 months; age-range: 18-72 months) consecutively diagnosed as ASD (according to the Diagnostic and Statistical Manual of Mental Disorders 4th edition criteria) over the period 2010–2013, and who performed a serological CD screening. Results The overall CD prevalence was 2.62%, which is statistically significant higher to that reported in the Italian paediatric population (p = 0.0246). Half of these children had no symptoms or risk factors related to CD when they performed the serological screening. Conclusions If replicated, these data suggest the importance of regular screening for CD in young patients with ASD, and are of relevance for clinical and public health.

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Serological screening for Celiac Disease in 382 pre-schoolers with Autism Spectrum Disorder

Calderoni et al. Italian Journal of Pediatrics Serological screening for Celiac Disease in 382 pre-schoolers with Autism Spectrum Disorder Sara Calderoni 0 1 Elisa Santocchi 1 Teresa Del Bianco 2 Elena Brunori 1 Laura Caponi 4 Aldo Paolicchi 4 Francesca Fulceri 1 Margherita Prosperi 1 Antonio Narzisi 0 1 Angela Cosenza 1 Raffaella Tancredi 1 Filippo Muratori 1 3 0 Stella Maris Mediterraneo Foundation , Chiaromonte, (PZ) , Italy 1 IRCCS Stella Maris Foundation , Viale del Tirreno 331, Pisa 56018, Calambrone , Italy 2 ODFlab, Department of Psychology and Cognitive Science, University of Trento , Via Matteo del Ben, 5/B, 38068 Rovereto (TN) , Italy 3 Department of Clinical and Experimental Medicine, University of Pisa , Pisa , Italy 4 Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa , Via Savi 10, 56126 Pisa , Italy Background: Recent investigations suggest a possible common genetic background between Autism Spectrum Disorders (ASD) and Celiac Disease (CD). However, studies regarding this association are scarce and often limited by the small sample sizes and/or large heterogeneity among ASD groups in terms of demographic and clinical features. The present study aims to investigate the overall CD prevalence (biopsy proven-CD patients plus screening detected tTG and EMA positive cases) in a large population of pre-schoolers with ASD referred to a tertiary care University Hospital. Methods: We retrospectively collected data about 382 children (mean age: 46.97 ± 13.55 months; age-range: 18-72 months) consecutively diagnosed as ASD (according to the Diagnostic and Statistical Manual of Mental Disorders 4th edition criteria) over the period 2010-2013, and who performed a serological CD screening. Results: The overall CD prevalence was 2.62%, which is statistically significant higher to that reported in the Italian paediatric population (p = 0.0246). Half of these children had no symptoms or risk factors related to CD when they performed the serological screening. Conclusions: If replicated, these data suggest the importance of regular screening for CD in young patients with ASD, and are of relevance for clinical and public health. Celiac Disease; Autism Spectrum Disorders; Pre-schoolers; Screening; Autoimmune disease; Gastrointestinal symptoms; Epidemiology; Young children - Background Autism Spectrum Disorders (ASD) are neurodevelopmental conditions characterized by impairment in socio-communicative abilities as well as restricted and stereotyped behaviours [1]. Besides the aforementioned core symptoms, patients with ASD frequently show a wide range of associated clinical manifestations, including other psychiatric [2], and medical comorbidities [3]. Among these latter, gastrointestinal (GI) dysfunctions are reported by parents of ASD children with a rate of 20–85% depending both on definition of GI symptoms and demographic/clinical characteristics of ASD samples [4, 5]. Simultaneously, recent evidences suggest a role of immune dysfunction in ASD pathogenesis [6], sustained also by increased rates of autoimmune disorders in the families of subjects with ASD [7–9]. In this framework, a possible association between ASD and Celiac Disease (CD) has been suggested. CD is defined as “a chronic small intestinal immune-mediated enteropathy precipitated by exposure to dietary gluten in genetically predisposed individuals” [10]. The prevalence of CD in Western population is close to 1% [11]; in particular in Italy it was estimated to be 1.1% among children aged 0–16 years [12], and 1.2% among school children, on the basis of a salivary radio-immunological screening [13]. © The Author(s). 2016 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. Clinical manifestations in childhood are not limited to classical GI symptoms (diarrhoea, abdominal pain, bloating, flatulence, weight loss, anorexia, constipation), but include other common or atypical manifestations potentially affecting any organ or body system. Moreover, two asymptomatic forms are described: Silent CD characterized by positive serology and histology, and Potential CD with positive serology and compatible Human Leukocyte Antigen (HLA) alleles but negative histology [14, 15]. Several complications are associated with untreated CD, and an increased risk of overall mortality has been observed [16]. The association between ASD and CD is still a matter of debate. Some studies reported n (...truncated)


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Sara Calderoni, Elisa Santocchi, Teresa Del Bianco, Elena Brunori, Laura Caponi, Aldo Paolicchi, Francesca Fulceri, Margherita Prosperi, Antonio Narzisi, Angela Cosenza, Raffaella Tancredi, Filippo Muratori. Serological screening for Celiac Disease in 382 pre-schoolers with Autism Spectrum Disorder, Italian Journal of Pediatrics, 2016, pp. 98, 42, DOI: 10.1186/s13052-016-0308-x