Comprehensive Manometric Evaluation of Dysphagia in Patients with Down Syndrome

Dysphagia is a common symptom in children with Down syndrome and is conventionally evaluated with imaging and endoscopy; high-resolution manometry is not routinely utilized. The aim of this study was to describe and correlate pharyngeal and esophageal manometry findings with contrast studies and endoscopy in patients with Down syndrome and dysphagia. Electronic medical records of patients with Down syndrome with dysphagia seen at our center between January 2008 and January 2022 were reviewed. Data collected included demographics, co-morbidities, symptoms, imaging, endoscopy, and manometry. Twenty-four patients with Down syndrome [median age of 14.9 years (IQR 7.6, 20.5), 20.8% female] met inclusion criteria. Common presenting symptoms of dysphagia included vomiting or regurgitation in 15 (62.5%) patients, and choking, gagging, or retching in 10 (41.7%) patients. Esophageal manometry was abnormal in 18/22 (81.2%) patients. The most common findings were ineffective esophageal motility in 9 (40.9%) followed by esophageal aperistalsis in 8 (36.4%) patients. Rumination pattern was noted in 5 (22.8%) patients. All 6 (25%) patients who previously had fundoplication had esophageal dysmotility. Strong agreement was noted between upper gastrointestinal studies and high-resolution esophageal manometry (p = 1.0) but no agreement was found between pharyngeal manometry and video fluoroscopic swallow studies (p = 0.041). High-resolution pharyngeal and esophageal manometry provide complementary objective data that may be critical in tailoring therapeutic strategies for managing patients with Down syndrome with dysphagia.