Prospective evaluation of esophageal motor dysfunction in Down's syndrome

OBJECTIVE: The aim of this study was to determine the prevalence and way of presentation of esophageal motor dysfunction in a nonselected population o f subjects with Down's syndrome. METHODS: The study was conducted in 58 Down's syndrome patients and 38 heal thy controls. A global symptom score and individual scores for dysphagia fo r liquids and solids, heartburn, vomiting/regurgitation, and chest pain wer e obtained. Esophageal function was evaluated initially by scintigraphy usi ng liquid and semisolid bolus. Time activity curves based on the mean conde nsed images were used to calculate residual activity at 100 s after swallow ing. According to both scintigraphy and clinical evaluation results, partic ipants underwent a radiological and manometric study. RESULTS: The most frequent symptoms in Down's syndrome patients were: dysph agia for liquids (n = 9), dysphagia for solids (n = 10), vomiting/regurgita tion (n = 8), and chest pain (n = 2). Liquid and semisolid retention of the tracer was significantly higher in Down's syndrome patients than in contro ls (p < 0.05). In 15 participants with Down's syndrome, tracer retention wa s higher than the 95 percentile of controls' retention. No correlation was found between the global or individual symptom score and esophageal retenti on quantified by scintigraphy. Hypothyroidism was unrelated to esophageal s ymptoms or retention. Five of the 15 esophagograms performed were abnormal, showing barium retention and/or esophageal dilation. Manometry showed acha lasia in two subjects, total body aperistalsis in one, and nonspecific esop hageal motor disorder in two. CONCLUSION: Esophageal motor disorders, particularly achalasia, are frequen t in individuals with Down's syndrome. Awareness of esophageal dysmotility in this population is important, even though symptoms are not evident, to a void potential complications. (C) 2001 by Am. Cell. of Gastroenterology.