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.
Highlights
Pompe disease, caused by a deficiency of the enzyme acid-alpha glucosidase (GAA), is characterized by an abnormal accumulation of glycogen in the lysosomes of multiple tissues, including skeletal, cardiac, and smooth muscles
Auditory-perceptual and physiologic/acoustic voice data were collected from 21 children with Pompe disease with a mean age of 9.9 years at the time of assessment
Seventeen of 21 participants were diagnosed with Infantile-onset Pompe disease (IOPD); 14 were cross-reactive immune material (CRIM) positive and three were CRIM negative
Summary
Pompe disease, caused by a deficiency of the enzyme acid-alpha glucosidase (GAA), is characterized by an abnormal accumulation of glycogen in the lysosomes of multiple tissues, including skeletal, cardiac, and smooth muscles. Pompe disease is broadly classified into two groups: Infantile and late-onset Pompe disease. Infantile-onset Pompe disease (IOPD) represents the most severe end of the clinical spectrum. Children with IOPD present with hypertrophic cardiomyopathy and profound muscle weakness at or soon after birth. Symptom onset for patients with late-onset Pompe disease (LOPD) ranges from the first year of life to later adulthood.
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