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Prospective Dysphagia Assessment in Adult Patients With Nephropathic Cystinosis
Author(s) -
Sullivan Stacey,
Stafstrom Carina,
Grant Natalie,
David William S.,
Price Feodor,
Rubin Lee,
Eichler Florian,
Sadjadi Reza
Publication year - 2025
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.28405
Subject(s) - swallowing , dysphagia , medicine , cystinosis , quality of life (healthcare) , pediatrics , physical therapy , surgery , cystine , biochemistry , chemistry , cysteine , enzyme , nursing
ABSTRACT Introduction 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. Methods 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. Results 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 days (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‐C Visit 3 73 [62:87], Visit 4 96 [76:99]; MDADI‐F Visit 3 18 [17:21], Visit 4 25 [23:25]), indicating a higher quality of life pertaining to swallowing. Discussion 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‐onset effect of respiratory training or cognitive‐behavioral impact from repeated swallowing measurements.