{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,6]],"date-time":"2025-07-06T22:22:39Z","timestamp":1751840559905,"version":"3.41.0"},"reference-count":25,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,3,27]],"date-time":"2025-03-27T00:00:00Z","timestamp":1743033600000},"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":[[2025,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Myopathy and dysphagia are common manifestations of nephropathic cystinosis, a rare autosomal recessive lysosomal storage disorder. We previously demonstrated that both the oral and pharyngeal phases of swallowing are affected and impact function and quality of life in patients. To better understand and characterize swallowing impairment, we evaluated patients with nephropathic cystinosis experiencing dysphagia and myopathy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We prospectively evaluated patients who had participated in a prior clinical trial readiness study of myopathy and dysphagia, using functional outcomes and video fluoroscopic swallowing studies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Eight patients underwent functional and swallowing assessments. Oral and pharyngeal stages of swallowing were affected in all subjects. There was an improvement in oral stage dysphagia (Visit 3 8 [3:9]; Visit 4 5 [1:5]) between Visits 3 and 4 median of 1090\u2009days (IQR [921:1288]) while pharyngeal stage dysphagia Modified Barium Swallow Impairment Profile scores stayed unchanged in the same amount of time. There was also improvement in M. D. Anderson Dysphagia Inventory (MDADI) scores (MDADI\u2010C Visit 3 73 [62:87], Visit 4 96 [76:99]; MDADI\u2010F Visit 3 18 [17:21], Visit 4 25 [23:25]), indicating a higher quality of life pertaining to swallowing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>Despite the progressive nature of the myopathic changes typically described in patients with nephropathic cystinosis, we demonstrated improvement in some swallowing metrics. This may suggest a possible late\u2010onset effect of respiratory training or cognitive\u2010behavioral impact from repeated swallowing measurements.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.28405","type":"journal-article","created":{"date-parts":[[2025,3,30]],"date-time":"2025-03-30T02:32:32Z","timestamp":1743301952000},"page":"114-118","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Prospective Dysphagia Assessment in Adult Patients With Nephropathic Cystinosis"],"prefix":"10.1002","volume":"72","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":"Carina","family":"Stafstrom","sequence":"additional","affiliation":[{"name":"Department of Neurology 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":"William S.","family":"David","sequence":"additional","affiliation":[{"name":"Department of Neurology Massachusetts General Hospital  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Feodor","family":"Price","sequence":"additional","affiliation":[{"name":"Department of Stem Cell and Regenerative Biology Harvard University  Cambridge Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lee","family":"Rubin","sequence":"additional","affiliation":[{"name":"Department of Stem Cell and Regenerative Biology Harvard University  Cambridge 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"}]},{"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":[[2025,3,27]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-147-4-200708210-00006"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)33425-2"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.10.2.165"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10141"},{"key":"e_1_2_11_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 A. 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