title: Subclinical dysphagia in persons with Prader-Willi syndrome.
abstract: Prader-Willi Syndrome (PWS) is caused by a genetic imprinting abnormality resulting from the lack of expression of the paternal genes at 15q11-q13. Intellectual disability, low muscle tone, and life-threatening hyperphagia are hallmarks of the phenotype. The need for the Heimlich maneuver, death from choking, and pulmonary infection occur in a disproportionally high number of persons with PWS. The widely held belief is that eating behaviors are responsible for choking and aspiration; yet, no investigation had sought to determine if swallowing impairments were present in persons with PWS. To address this research and clinical gap, simultaneous videofluoroscopy and nasal respiratory signals were used to record swallowing function and breathing/swallowing coordination in 30 participants with PWS. Subjects consumed thin liquid and barium cookies under two randomized conditions as follows: (i) controlled (cues to swallow and standardized bolus sizes); (ii) spontaneous (no cues or bolus size control). Under videofluoroscopy, the cohort showed disordered pharyngeal and esophageal swallowing in both conditions with disturbances in timing, clearance, and coordination of swallowing with the respiratory cycle. No participant showed a sensory response such as attempting to clear residue or coughing; thereby supporting the lack of overt symptoms. We conclude that the high death rate from choking and pulmonary infection in children and adults with PWS may be related, in part, to underlying, asymptomatic dysphagia. The combination of rapid eating and dysphagia would increase the risk of aspiration-related morbidity and mortality. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Department of Medical Research, The Children's Institute of Pittsburgh, Pittsburgh, Pennsylvania.
authors.forename: Roxann Diez
authors.initials: RD
authors.lastname: Gross
authors.affiliation: Department of Medical Research, The Children's Institute of Pittsburgh, Pittsburgh, Pennsylvania.
authors.forename: Ronit
authors.initials: R
authors.lastname: Gisser
authors.affiliation: Department of Medical Research, The Children's Institute of Pittsburgh, Pittsburgh, Pennsylvania.
authors.forename: Gregory
authors.initials: G
authors.lastname: Cherpes
authors.affiliation: Department of Medical Research, The Children's Institute of Pittsburgh, Pittsburgh, Pennsylvania.
authors.forename: Katie
authors.initials: K
authors.lastname: Hartman
authors.affiliation: Department of Radiology, West Penn Allegheny Health System, Pittsburgh, Pennsylvania.
authors.forename: Rishi
authors.initials: R
authors.lastname: Maheshwary
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003680:Deglutition Disorders / Q000175:diagnosis*; D005260:Female; D018392:Genomic Imprinting; D006801:Humans; D008297:Male; D010641:Phenotype; D010808:Physical Examination; D011218:Prader-Willi Syndrome / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D011446:Prospective Studies; D011859:Radiography; D055815:Young Adult
keywords: Prader-Willi syndrome; aspiration pneumonia; choking; deglutition disorders; dysphagia; esophageal dysmotility; swallowing disorders