Prevalence and Clinical Features of Celiac Disease in a Cohort of Italian Children with Autism Spectrum Disorders

Abstract

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.

Gastrointestinal Symptoms in Autism Spectrum Disorder: A Systematic Review

“…For example, the data concerning the contribution of celiac disease and gluten intolerance is currently controversial. There is limited evidence of an association between celiac disease and ASD [ 77 ], and the prevalence of celiac disease was not found to be higher in an ASD population in comparison to that in a control group [ 78 ]. However, it may be that in the presence of ASD, celiac disease presents in an atypical way [ 78 ].…”

“…There is limited evidence of an association between celiac disease and ASD [ 77 ], and the prevalence of celiac disease was not found to be higher in an ASD population in comparison to that in a control group [ 78 ]. However, it may be that in the presence of ASD, celiac disease presents in an atypical way [ 78 ]. There is also convincing evidence of a positive and significant association between ASD and allergic conditions, especially food allergy [ 79 ].…”

“…This makes meta-analysis and comparison of their results problematic. Several studies used the gastrointestinal severity index [ 24 , 40 , 54 , 78 ] or the Autism Treatment Network 2005 Questionnaire [ 41 , 43 , 44 , 58 ]. Some studies used validated questionnaires, but several others measured GIS using questionnaires that were unique to wider studies.…”

Psychiatric and Neurological Manifestations of Celiac Disease in Adults

“…Mounting evidence supports the idea that immune system malfunction may play a role in the etiology of ASD for certain people [55]. CD, an autoimmune ailment that mostly affects the small intestine and is driven by gluten consumption, has been linked to ASD by some research while others have shown a random relationship between the two conditions [54,55].…”

“…It also discovered data that supported the existence of gut-immune-brain linkages by revealing the presence of specific causal interactions. Future research that incorporates large prospective designs and objective and standardized GID measurements will be required to gain a more nuanced knowledge of GID's function in ASD [54].…”