{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T14:19:14Z","timestamp":1787581154561,"version":"build-2736575974"},"reference-count":41,"publisher":"SAGE Publications","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JND"],"published-print":{"date-parts":[[2023,5,2]]},"abstract":"<jats:p>Background: Spinal muscular atrophy (SMA) is a hereditary motor neuron disorder, characterized by the degeneration of motor neurons and progressive muscle weakness. There is a large variability of disease severity, reflected by the classification of SMA types 1\u20134. Objective: The aim of this cross-sectional study was to determine the nature of swallowing problems and underlying mechanisms in patients with SMA types 2 and 3, and the relationship between swallowing and mastication problems. Methods: We enrolled patients (aged 13\u201367 years) with self-reported swallowing and\/or mastication problems. We used a questionnaire, the functional oral intake scale, clinical tests (dysphagia limit, and timed test swallowing, the test of mastication and swallowing solids), a videofluoroscopic swallowing study (VFSS), and muscle ultrasound of the bulbar muscles (i.e. digastric, geniohyoid and tongue muscles). Results: Non-ambulant patients (n\u200a=\u200a24) had a reduced dysphagia limit (median 13 ml (3\u201345), and a swallowing rate at the limit of normal (median 10 ml\/sec (range 4\u201325 ml). VFSS revealed piecemeal deglutition and pharyngeal residue. We found pharyngo-oral regurgitation in fourteen patients (58%), i.e. they transported the residue from the hypopharynx back into the oral cavity and re-swallowed it. Six patients (25%) demonstrated impaired swallowing safety (i.e. penetration aspiration scale &gt; 3). Muscle ultrasound revealed an abnormal muscle structure of the submental and tongue muscles. Ambulant patients (n\u200a=\u200a3), had a normal dysphagia limit and swallowing rate, but VFSS showed pharyngeal residue, and muscle ultrasound demonstrated an abnormal echogenicity of the tongue. Swallowing problems were associated with mastication problems (p\u200a=\u200a0.001).<\/jats:p>","DOI":"10.3233\/jnd-221640","type":"journal-article","created":{"date-parts":[[2023,3,31]],"date-time":"2023-03-31T11:58:47Z","timestamp":1680263927000},"page":"427-438","source":"Crossref","is-referenced-by-count":13,"title":["Swallowing Problems in Spinal Muscular Atrophy Types 2 and 3: A Clinical, Videofluoroscopic and Ultrasound Study"],"prefix":"10.1177","volume":"10","author":[{"given":"A.M.B.","family":"van der Heul","sequence":"first","affiliation":[{"name":"Department of Neurology & Neurosurgery, UMC Utrecht, Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.A.J.","family":"Nievelstein","sequence":"additional","affiliation":[{"name":"Department of Radiology & Nuclear Medicine, Imaging & Oncology Division, University Medical Center Utrecht, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.P.A.","family":"van Eijk","sequence":"additional","affiliation":[{"name":"Department of Neurology & Neurosurgery, UMC Utrecht, Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands"},{"name":"Biostatistics & Research Support, Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Asselman","sequence":"additional","affiliation":[{"name":"Department of Neurology & Neurosurgery, UMC Utrecht, Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.E.","family":"Erasmus","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Donders Center for Neuroscience, Radboud University Medical Center, Amalia Children\u2019s Hospital, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Cuppen","sequence":"additional","affiliation":[{"name":"Department of Neurology & Neurosurgery, UMC Utrecht, Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.J.N.","family":"Bittermann","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology-Head and Neck Surgery, University Medical Center Utrecht, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Gerrits","sequence":"additional","affiliation":[{"name":"Department of Languages, Literature and Communication, Utrecht Institute of Linguistics OTS, Utrecht University, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.L.","family":"van der Pol","sequence":"additional","affiliation":[{"name":"Department of Neurology & Neurosurgery, UMC Utrecht, Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"van den Engel-Hoek","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation, Donders Center for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","reference":[{"issue":"1","key":"10.3233\/JND-221640_ref1","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","article-title":"Identification and characterization of a spinal muscular atrophy-determining gene","volume":"80","author":"Lefebvre","year":"1995","journal-title":"Cell"},{"issue":"5","key":"10.3233\/JND-221640_ref2","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1016\/S1474-4422(12)70061-3","article-title":"Childhood spinal muscular atrophy: Controversies and challenges","volume":"11","author":"Mercuri","year":"2012","journal-title":"Lancet Neurol"},{"issue":"5-6","key":"10.3233\/JND-221640_ref3","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/S0960-8966(06)80015-5","article-title":"International SMA consortium meeting","volume":"2","author":"Munsat","year":"1992","journal-title":"(26-28 June Bonn, Germany). 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