Follow-up analysis of voice quality in patients with late-onset Pompe disease

Abstract

BackgroundLate-onset Pompe disease (LOPD) is a metabolic myopathy disorder characterized by progressive muscle damage and among others dysfunction of the voice apparatus, which affects speech and – above all – voice quality. Symptoms include dysphonia, instability, glottic insufficiency, and tense voice. The aim of this study was to evaluate and compare voice quality disorder in a group of 15 LOPD patients who were first examined in 2014 and then re-examined in 2017.MethodsIn both 2014 and 2017, the same 15 LOPD patients, ranging in age from 15 to 57, from 10 different families, underwent the following examinations: perceptual assessment of voice quality on the RBH scale, electroglottographic recordings, and acoustic recordings. All the patients were on enzyme replacement therapy (ERT).ResultsThree years after the 2014 study, the LOPD patients demonstrated a deterioration in voice quality. A statistically significant increase in glottic insufficiency (p = 0.0399) and a shift towards tense voice (p = 0.0417) were observed. Two patients – out of three who had received presymptomatic treatment – demonstrated stable voice quality compared with 2014.ConclusionsThe results suggest increased muscle weakness and progression of LOPD. The parameters Closed Quotient (calculated on the basis of an electroglottographic signal) and Peak Slope (calculated on the basis of an acoustic signal) proved to be the most sensitive.

The Application of a Genetic Algorithm in the Noninvasive Assessment of Vocal Nodules in Children

“…In the course of our work aimed at developing a noninvasive diagnostic system of vocal nodules in children, we used both voice and electroglottographic recordings. Leveraging the studies by Kane et al, Alku et al,Degottex et al Szklanny et al and Backstrom et al [22], [24], [38], [32], [33], [34], we selected parameters that would be effective for speech signal analysis. The resultant classifier enables a diagnosis to be established referring to the presence of vocal nodules, including detailed information about glottal insufficiency.…”

“…Ultimately, four of the aforementioned parameters -Peak Slope, NAQ, RDS, and CQ H -were selected. The selection was based on the results presented in previous studies [22], [32], [33]. These parameters had been used to assess voice quality in Pompe disease, a rare genetic disorder, in agreement with phoniatric diagnosis.…”

Relation of RBH Auditory-Perceptual Scale to Acoustic and Electroglottographic Voice Analysis in Children With Vocal Nodules

“…Recordings of patients with vocal nodules (group 1) from VPADB, and recordings of healthy children (group 2) from VPADB and SVD were used to carry out a perceptual assessment and to check whether it was possible to distinguish between the different degrees of deviation on the RBH scale using acoustic parameters that were effectively used in Pompe disease [25], [26], MPS [27] and vocal nodules [28]. Group 1 consisted of 57 patients with vocal nodules, aged 5-14 (with the average age of 8.7), including 30 boys and 27 girls.…”

Quality of life and its contributors among adults with late-onset Pompe disease in China

“…PD is generally classified into two forms: (1) infantile-onset PD (IOPD) when the disease is characterized by cardiomyopathy, respiratory insufficiency, and severe muscle hypotonia, and presents during the first year of life, and (2) late-onset PD (LOPD), which encompasses the remaining patients with PD who can present at less than 12 months without cardiomyopathy or present after 12 months [ 2 ]. In patients with PD, the accumulation of glycogen in the skeletal muscles, heart, liver, and nervous system causes a decline in their quality of life (QOL) and finally leads to disabilities or even death [ 3 , 4 ].…”