Voice Abnormalities in Patients with Mucopolysaccharidosis: Can They Serve as Biological Markers for Early Diagnosis and Disease Progression?

Background: Mucopolysaccharidoses (MPS) are a group of genetic lysosomal storage disorders caused by deficiencies or malfunctions in enzymes responsible for breaking down glycosaminoglycans (GAGs). Ear nose throat (ENT) disorders are very common in individuals with MPS, particularly in types I, II, and VI, and are often some of the early symptoms. The main purpose of this study was to assess voice quality and voice-related handicap in children with MPS comparing to typically developing children. By demonstrating the voice characteristics in MPS patients we also wanted to see if these can be used as potential biological markers to diagnose and following the natural history and effect of treatment in MPS patients. The second purpose was comparing voice characteristics between MPS Type IV and Type VI patients. Results: Our study is designed to include children with MPS (n=17) and age and sex-matched typically developing couples. Significant vocal abnormalities in MPS patients were found by the acoustic voice analysis. Unstable vocal fold vibration was indicated by elevated jitter and other perturbation metrics, indicating that GAG deposition in the vocal folds' mucosal and submucosal tissues impacts voice quality in MPS children of all ages. The study also assessed voice-related handicap, showing that children with MPS face major challenges in their everyday lives, encompassing social, emotional, functional, and physical domains. Comparing voice characteristics between MPS Type IV and Type VI patients was study's other goal. The study emphasizes that voice quality abnormalities are widespread in both groups, but no significant differences were observed between them. Conclusions : This study provides valuable data on voice abnormalities in MPS and encourages future research into using voice analysis as an effective tool in the early diagnosis and management of MPS. Examining voice quality in MPS children during the time of diagnosis and during the follow-up visits in centers dealing with these patients globally, and sharing the results by means of existing networks will be beneficial to be able to use voice as a biological marker for diagnosis and following of the disease progress as well as the efficacy of the treatment protocols.