Assessment of Dysphonia in Children with Pompe Disease Using Auditory-Perceptual and Acoustic/Physiologic Methods

Kelly D Crisp, Amy T Neel, Sathya Amarasekara, Jill Marcus, Gretchen Nichting, Aditi Korlimarla, Priya S Kishnani, Harrison N Jones, Kelly D Crisp, Amy T Neel, Sathya Amarasekara, Jill Marcus, Gretchen Nichting, Aditi Korlimarla, Priya S Kishnani, Harrison N Jones

Abstract

Bulbar and respiratory weakness occur commonly in children with Pompe disease and frequently lead to dysarthria. However, changes in vocal quality associated with this motor speech disorder are poorly described. The goal of this study was to characterize the vocal function of children with Pompe disease using auditory-perceptual and physiologic/acoustic methods. High-quality voice recordings were collected from 21 children with Pompe disease. The Grade, Roughness, Breathiness, Asthenia, and Strain (GRBAS) scale was used to assess voice quality and ratings were compared to physiologic/acoustic measurements collected during sustained phonation tasks, reading of a standard passage, and repetition of a short phrase at maximal volume. Based on ratings of grade, dysphonia was present in 90% of participants and was most commonly rated as mild or moderate in severity. Duration of sustained phonation tasks was reduced and shimmer was increased in comparison to published reference values for children without dysphonia. Specific measures of loudness were found to have statistically significant relationships with perceptual ratings of grade, breathiness, asthenia, and strain. Our data suggest that dysphonia is common in children with Pompe disease and primarily reflects impairments in respiratory and laryngeal function; however, the primary cause of dysphonia remains unclear. Future studies should seek to quantify the relative contribution of deficits in individual speech subsystems on voice quality and motor speech performance more broadly.

Keywords: GRBAS; acoustic; auditory-perceptual; dysphonia; pompe disease; respiratory; speech; voice.

Conflict of interest statement

P.S.K. has received research/grant support from Sanofi Genzyme, Valerion Therapeutics, and Amicus Therapeutics and consulting fees and honoraria from Sanofi Genzyme, Amicus Therapeutics, Maze Therapeutics, J.C.R. Pharmaceutical and Asklepios Biopharmaceutical, Inc. (AskBio, Research Triangle, NC, USA). P.S.K. is member of the Pompe and Gaucher Disease Registry Advisory Board for Sanofi Genzyme, Amicus Therapeutics, and Baebies. P.S.K. has equity in Asklepios Biopharmaceutical, Inc. (AskBio), which is developing gene therapy for Pompe disease and Maze Therapeutics, which is developing small molecule in Pompe disease. H.N.J. has received research grant support from Sanofi Genzyme. K.C., A.N., J.M., G.N., S.A. and A.K. have no conflicts to disclose. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript, or in the decision to publish the results.

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