P2.228: Autism and Achalasia: A Case Study Highlighting Diagnostic Challenges in Pediatric Gastrointestinal Disorders

Introduction: Achalasia is a rare pediatric esophageal motility disorder characterized by failure of the lower esophageal sphincter (LES) to relax. The diagnosis of achalasia can be challenging in patients with Autism Spectrum Disorder (ASD) due to overlapping symptoms. An 8-year-old male with suspected ASD whose achalasia diagnosis was initially obscured by features suggesting gastroesophageal reflux disease (GERD) and avoidant restrictive food intake disorder; emphasizing the need for a broad differential when evaluating persistent dysphagia and weight loss in ASD patients.

Case Description: An 8-year-old male with ASD presented with 1-2 months of worsening, cough, weight loss, dysphagia, chest pain, and epigastric pain. A three-week history of additional congestion, and rhinorrhea, led to outpatient treatment with amoxicillin, albuterol, ondansetron, and omeprazole for presumed pneumonia and GERD, all of which were ineffective. On admission, the parent reported new onset night sweats, fatigue, and constipation. The patient had a 10-pound weight loss initially attributed to restrictive eating behaviors after being found watching online videos that influence body image concerns. Physical examination showed a thin appearance and flat affect. Significant weight loss and leukocytosis prompted admission. Extensive workup was unremarkable, except for positive rhinovirus/enterovirus. Imaging revealed increased stool burden on abdominal radiography and a normal chest radiograph. Despite treatment for constipation and nutritional support, oral intolerance persisted. Given this, speech therapy and psychology were consulted.

Speech therapy recommended a swallow evaluation, and initial results prompted an upper gastrointestinal study revealing a high-grade obstruction at the gastroesophageal junction concerning for achalasia. His Eckhardt score was 12, consistent with severe achalasia. He underwent esophagogastroduodenoscopy, biopsy, endoluminal functional lumen imaging probe (EndoFLIP) with esophageal dilation to 30mmHg. At 4-month follow-up, the patient tolerated a regular diet, gained 8 kg, and had an Eckhardt score of 0.

Discussion: Achalasia is a rare esophageal motility disorder in pediatrics, characterized by failure of the LES to relax and absence of peristalsis, leading to progressive dysphagia, regurgitation, chest pain, and weight loss. ASD, is a neurodevelopmental disorder characterized by social and sensory challenges. Emerging research suggests a higher prevalence of gastrointestinal disorders, including achalasia, among individuals with ASD. The connection between ASD and gastrointestinal disorders is not well understood, but growing evidence has emerged suggesting genetic links, including FOXP1 haploinsufficiency, which has been associated with both ASD and esophageal dysfunction. Case reports describe motility disorders in childrens with ASD, further raising concern of a non coincidental relationship. While the relationship remains unclear, gastrointestinal discomfort in children with ASD is often dismissed as behavioral, posing ongoing diagnostic challenges.

Conclusion: Incorporating achalasia in the differential diagnosis of dysphagia and weight loss in children with ASD may improve effective management. Given the potential association, further research is warranted to explore the pathophysiological mechanisms linking these conditions.