Introduction Eosinophilic esophagitis (EoE) is a chronic, immune-mediated esophageal disease characterised by eosinophilic inflammation. A potential association with Autism Spectrum Disorder (ASD) has been reported in literature. Shared pathways have been hypothesized, with a potentially pathogenetic role of type 2 allergic inflammation. Our aim was to assess the prevalence of ASD in our paediatric EoE population. Methods We retrospectively analysed a single-centre cohort of EoE paediatric patients concomitantly diagnosed with ASD (01/2019-01/2024). Data collection included baseline demographics, EoE diagnosis and related symptomatology, ASD diagnosis and related clinical features. Results In a cohort of 33 patients with EoE, 3/33 (9%) were diagnosed with ASD. All were male; the median age at EoE diagnosis was 10 years (Range: 9-11). Two patients with high-functioning autism presented with classic EoE symptomatology: chest pain and heartburn in one case, solid foods dysphagia and heartburn in the second one; both had episodes of food impaction. The third child had more severe ASD features with limited verbal abilities; EoE symptoms at diagnosis were reduced appetite with necessity of water intake to help food swallowing. Conclusion Our single-center analysis reveals an increased prevalence of ASD in pediatric EoE patients compared to the general paediatric population (9% vs. 0.4-1.3%, respectively). This finding supports maintaining a low threshold for investigations in ASD children, especially if verbally impaired, presenting with feeding disorders or suspicious EoE symptomatology, to avoid under-recognition. The creation of a paediatric questionnaire for dysphagia would help identify and monitor symptoms, particularly in this patient category.
Eosinophilic Esophagitis and Autism Spectrum Disorders: a potential association requiring further investigations / V. Silvera, L. Gianolio, R. De Santis, M. Acunzo, L. Norsa, E. D’Auria, E. Pozzi, G. Zuccotti. ((Intervento presentato al 31. convegno Congresso Nazionale SIGENP : 26-28 settembre tenutosi a Palermo nel 2024.
Eosinophilic Esophagitis and Autism Spectrum Disorders: a potential association requiring further investigations
V. Silvera;L. Gianolio;R. De Santis;M. Acunzo;L. Norsa;E. D’Auria;G. Zuccotti
2024
Abstract
Introduction Eosinophilic esophagitis (EoE) is a chronic, immune-mediated esophageal disease characterised by eosinophilic inflammation. A potential association with Autism Spectrum Disorder (ASD) has been reported in literature. Shared pathways have been hypothesized, with a potentially pathogenetic role of type 2 allergic inflammation. Our aim was to assess the prevalence of ASD in our paediatric EoE population. Methods We retrospectively analysed a single-centre cohort of EoE paediatric patients concomitantly diagnosed with ASD (01/2019-01/2024). Data collection included baseline demographics, EoE diagnosis and related symptomatology, ASD diagnosis and related clinical features. Results In a cohort of 33 patients with EoE, 3/33 (9%) were diagnosed with ASD. All were male; the median age at EoE diagnosis was 10 years (Range: 9-11). Two patients with high-functioning autism presented with classic EoE symptomatology: chest pain and heartburn in one case, solid foods dysphagia and heartburn in the second one; both had episodes of food impaction. The third child had more severe ASD features with limited verbal abilities; EoE symptoms at diagnosis were reduced appetite with necessity of water intake to help food swallowing. Conclusion Our single-center analysis reveals an increased prevalence of ASD in pediatric EoE patients compared to the general paediatric population (9% vs. 0.4-1.3%, respectively). This finding supports maintaining a low threshold for investigations in ASD children, especially if verbally impaired, presenting with feeding disorders or suspicious EoE symptomatology, to avoid under-recognition. The creation of a paediatric questionnaire for dysphagia would help identify and monitor symptoms, particularly in this patient category.Pubblicazioni consigliate
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