Swallowing dysfunction in patients with nephropathic cystinosis

Area of Science:

• Medical Science
• Genetics
• Rare Diseases

Background:

• Nephropathic cystinosis is a rare genetic disorder affecting multiple organs.
• Patients often develop systemic complications, including myopathy and swallowing dysfunction.
• Dysphagia in cystinosis is recognized but not routinely investigated.

Purpose of the Study:

• To assess solid food swallowing function in adult cystinosis patients.
• To compare swallowing function in cystinosis patients with those having myotonic dystrophy type 1.
• To evaluate the utility of the Test of Mastication and Swallowing Solids (TOMASS) for diagnosing dysphagia.

Main Methods:

• Included 20 adult cystinosis patients and 10 myotonic dystrophy type 1 patients.
• Utilized the Test of Mastication and Swallowing Solids (TOMASS) for swallowing assessment.
• Compared patient data with normative values using t-tests and Mann-Whitney U tests.

Main Results:

• Cystinosis patients showed significant differences in bite count, masticatory cycles, swallows, and total time compared to normal values.
• Swallowing performance in cystinosis patients was comparable to that of myotonic dystrophy type 1 patients.
• The TOMASS identified significant solid food dysphagia in adult cystinosis patients.

Conclusions:

• Adults with nephropathic cystinosis exhibit significant dysphagia for solid food.
• Clinicians should be aware of and screen for swallowing dysfunction in these patients.
• The TOMASS is a simple, non-invasive tool suitable for regular monitoring of swallowing function in cystinosis care.