# Acute Medical Events in Adults with Profound Autism: A Review and Illustrative Case Series

**Authors:** Heli Patel, Anamika L. Shrimali, Christopher J. McDougle, Hannah M. Carroll

PMC · DOI: 10.3390/brainsci15070740 · 2025-07-10

## TL;DR

This paper discusses how communication challenges in adults with profound autism can delay diagnosis and treatment during medical emergencies, using three case examples to highlight the issue.

## Contribution

The paper introduces a case series illustrating atypical presentation of acute medical events in adults with profound autism and emphasizes the importance of caregiver insights.

## Key findings

- Communication barriers in adults with profound autism can lead to delayed diagnosis of acute medical events.
- Caregiver observations and recognition of atypical pain expressions are crucial for timely treatment.
- Three illustrative cases show how atypical behaviors can signal serious medical conditions like appendicitis and esophagitis.

## Abstract

Background: Autism spectrum disorder (ASD) is associated with social-communication challenges that can hinder timely diagnosis and treatment during acute medical events (AMEs). The purpose of this report is to review the literature on medical comorbidities and AMEs in adults with profound ASD and highlight how healthcare teams can better understand atypical presentations of acute pain and discomfort in adults with profound ASD to reduce delayed diagnoses, delays in treatment, and ultimately improve health outcomes. Methods: The literature on medical comorbidities and AMEs in adults with profound ASD was reviewed using the following databases: PubMed, PsycINFO, and Google Scholar. The histories of three adults with profound ASD who experienced AMEs—specifically, appendicitis, nephrolithiasis, and eosinophilic esophagitis (EoE)—are described. The clinical cases were selected to illustrate the challenges inherent in diagnosing and treating AMEs in adults with profound ASD in the context of the review. Results: In Case 1, a 31-year-old male with autism was diagnosed with perforated appendicitis after his family noticed behavioral changes. In Case 2, a 36-year-old male with autism experienced intermittent pain from nephrolithiasis and communicated his discomfort through irritability and pointing. In Case 3, a 34-year-old male with autism exhibited atypical behavior due to pain from undiagnosed EoE, identified after years of untreated pain and multiple unsuccessful clinical procedures. Conclusions: This review and the illustrative cases demonstrate the significant role that communication barriers play in delayed medical diagnoses for adults with profound ASD during AMEs. Integrating caregiver insights and recognizing atypical pain expressions are essential for improving the accuracy and timeliness of diagnosis and treatment in this population.

## Linked entities

- **Diseases:** appendicitis (MONDO:0005649), nephrolithiasis (MONDO:0008171), eosinophilic esophagitis (MONDO:0005361), autism spectrum disorder (MONDO:0005258)

## Full-text entities

- **Diseases:** appendicitis (MESH:D001064), acute pain (MESH:D059787), Autism (MESH:D001321), EoE (MESH:D057765), nephrolithiasis (MESH:D053040), ASD (MESH:D000067877), pain (MESH:D010146), irritability (MESH:D001523)

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Source: https://tomesphere.com/paper/PMC12293176