{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,21]],"date-time":"2025-09-21T17:12:58Z","timestamp":1758474778213,"version":"3.40.5"},"reference-count":27,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,6,10]],"date-time":"2022-06-10T00:00:00Z","timestamp":1654819200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100005674","name":"Cystinosis Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005674","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2022,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction\/Aims<\/jats:title><jats:p>Nephropathic cystinosis is a lysosomal storage disorder with known myopathic features, including dysphagia. Evaluation of oropharyngeal swallowing physiology can be standardized using the Modified Barium Swallow Impairment Profile (MBSImP), a validated assessment tool used to analyze and rate swallowing across 17 distinct physiologic domains. Our objective was to better characterize swallowing impairments in nephropathic cystinosis using MBSImP analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We retrospectively evaluated 40 video fluoroscopic swallowing studies performed at two time points over 1\u00a0y in patients with nephropathic cystinosis with various levels of oral and pharyngeal stage dysphagia. Patients completed two self\u2010administered dysphagia outcome measures (the M. D. Anderson Dysphagia Inventory [MDADI] and the 10\u2010item Eating Assessment Tool [EAT\u201010]).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We demonstrated oral stage and pharyngeal stage dysphagia across domains that impacted bolus control, transit, and clearance through both the oral cavity and pharyngeal lumen. Also captured were deficits related to onset and completeness of laryngeal closure that impact airway protection during swallow. There were significant correlations between pharyngeal total score and EAT\u201010 (<jats:italic>r<\/jats:italic>\u00a0=\u20090.5, <jats:italic>p<\/jats:italic>\u00a0&lt;\u20090.001) and between oral total score and EAT\u201010 (<jats:italic>r<\/jats:italic>\u00a0=\u20090.7, <jats:italic>p<\/jats:italic>\u00a0&lt;\u20090.001), MDADI\u2010e (<jats:italic>r<\/jats:italic>\u00a0=\u2009\u22120.6, <jats:italic>p<\/jats:italic>\u00a0&lt;\u20090.001), MDADI\u2010p (<jats:italic>r<\/jats:italic>\u00a0=\u2009\u22120.5, <jats:italic>p<\/jats:italic>\u00a0&lt;\u20090.001) and MDADI\u2010c (<jats:italic>r<\/jats:italic>\u00a0=\u2009\u22120.6, <jats:italic>p<\/jats:italic>\u00a0&lt;\u20090.001). There were no differences in oral or pharyngeal total scores across the 1\u2010y time span.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>This study identifies oral and pharyngeal stage dysphagia as crucial to patients with nephropathic cystinosis and paves the path for future studies of treatment targets.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.27642","type":"journal-article","created":{"date-parts":[[2022,5,26]],"date-time":"2022-05-26T13:07:15Z","timestamp":1653570435000},"page":"223-226","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Longitudinal dysphagia assessment in adult patients with nephropathic cystinosis using the Modified Barium Swallow Impairment Profile"],"prefix":"10.1002","volume":"66","author":[{"given":"Stacey","family":"Sullivan","sequence":"first","affiliation":[{"name":"Department of Speech, Language and Swallowing Disorders Massachusetts General Hospital  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalie","family":"Grant","sequence":"additional","affiliation":[{"name":"Department of Neurology Massachusetts General Hospital  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Colleen","family":"Hammond","sequence":"additional","affiliation":[{"name":"Cystinosis Adult Care Excellence Initiative  Reading Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William S.","family":"David","sequence":"additional","affiliation":[{"name":"Department of Neurology Massachusetts General Hospital  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Florian","family":"Eichler","sequence":"additional","affiliation":[{"name":"Department of Neurology Massachusetts General Hospital  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3829-6030","authenticated-orcid":false,"given":"Reza","family":"Sadjadi","sequence":"additional","affiliation":[{"name":"Department of Neurology Massachusetts General Hospital  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,6,10]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-147-4-200708210-00006"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)33425-2"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.10.2.165"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10141"},{"key":"e_1_2_10_6_1","first-page":"254","article-title":"Neurobehavioral consequences of a genetic metabolic disorder: visual processing deficits in infantile nephropathic cystinosis","volume":"13","author":"Ballantyne AO","year":"2000","journal-title":"Neuropsychiatry Neuropsychol Behav Neurol"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(77)90197-8"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj0410240"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004670050009"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198812013192206"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410350209"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199008303230903"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-007-0650-8"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/ageing\/afp214"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.27039"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.26726"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00417897"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/PHM.0000000000001354"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00455-019-09986-9"},{"key":"e_1_2_10_20_1","first-page":"870","article-title":"The development and validation of a dysphagia\u2010specific quality\u2010of\u2010life questionnaire for patients with head and neck cancer: the M. 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