Prevalence of Autism Spectrum Disorder, Developmental Delay and Intellectual Disability in Children with Eosinophilic Esophagitis

Background: In the general population, the prevalence of autism spectrum disorder (ASD) is about 2%, developmental delay (DD) is about 3 to 7% and intellectual disability (ID) is about 1.3%. Children with ASD may frequently have feeding difficulties and gastrointestinal (GI) symptoms such as regurgitation. Differentiating whether these symptoms are associated with ASD alone or represent a symptom of another GI disease is challenging without further investigation. Eosinophilic Esophagitis (EoE), a GI allergic disorder, represents 1 in 2,000 in the general population. Recent cohort data identified a significant association between EoE and ASD. ID and DD may also present with similar co-morbid diagnoses as ASD. We hypothesized that children with EoE may present with a higher prevalence of ASD, ID, and DD than the general population.

Objectives: The objective of this study was to measure the prevalence of ASD, ID, and DD among children with EoE in two large pediatric multi-disciplinary EoE programs (A and B).

Methods: Retrospective chart reviews of electronic medical records from children seen at two academic children’s hospitals from 2007 to 2018 were performed. Common ICD9 and 10 codes were used to identify patients with EoE, ASD, DD, and ID. The prevalence of DD, ID, and ASD (with and without DD or ID) was measured to identify prevalence rates within children with EoE at each center.

Results: A total of 3,546 EoE patients were identified (1,702 and 2,844 patients from A and B respectively) with a male sex distribution of 69% and 73% respectively. Of EoE patients, the prevalence of ASD was 5.7% and 5.4% respectively. The prevalence of ID in those with EoE was 2.5% and 1.2% respectively. The prevalence of DD in those with EoE was 21.2% and 12.9% respectively. Of children with EoE under the age of 2 (Institution A, n = 7; Institution B, n = 525) 28.5% at Institution A and 12.9% at Institution B were also diagnosed with DD.

Table 1: Prevalence of autism spectrum disorder, intellectual disability, and developmental delay in children with EoE compared to general population.

Diagnosis	Institution A N (%)	Institution B N (%)	General Population %‡
Autism Spectrum Disorder	97 (5.7)	153 (5.4)	2.3 - 2.8
Intellectual Disability	42 (2.5)	34 (1.2)	1.1 - 1.3
Developmental Delay	361 (21.2)	367 (12.9)	3.6 - 7.0

^‡Data obtained from Centers for Disease Control and Prevention, NCHS, National Health Interview Survey, 2014-2016.

Conclusions: Children with EoE have high prevalence rates of ASD, ID, and DD in comparison to established rates in the general population. Providers that care for patients with EoE should be aware of the prevalence of these co-occurring conditions and consider making referrals for further evaluation when appropriate. These findings emphasize the need to better understand how EoE may present in children with ASD, DD, and ID, which can have important implications in screening and early recognition in these populations. Further study is warranted to identify potential molecular etiologies of the association between EoE, allergy, and feeding, and ASD, ID, and DD.