Analysis of voice quality in patients with late-onset Pompe disease
Tóm tắt
Pompe disease is a progressive metabolic myopathy. Disease progression is characterized, among other features, by progressive dysfunction of the voice apparatus. The aim of this study was to employ electroglottographic, acoustic and nasalance measurement methods on patients with late-onset Pompe disease in order to provide detailed information on the effect of the disease on voice quality. Voice quality is the key factor for estimating the effectiveness of ERT in late-onset Pompe disease. The study compared clinical phoniatric examination with electroglottographic, acoustic and nasalance measurement methods. The consistency of the aforementioned analyses was assessed. The study examined 19 patients with late-onset Pompe disease (including 9 with the juvenile form of the disease). Of these, a total of 17 patients underwent otolaryngological examination with detailed phoniatric evaluation of their articulatory organs. Electroglottographic recordings and nasalance measurements (using the nasalance Separator Handle) were obtained from all patients. MATLAB (COVAREP toolkit) was used to analyse voice recording data. Dysphonia observed in patients with late-onset Pompe disease is mainly caused by dysfunction of vocal fold closure and weakness of vocal muscle. However, substantial speech nasality is caused by insufficient closure of the soft palate. Electroglottographic signal analysis, acoustic and nasalance testing methods indicated that more significant changes in the function of the voice apparatus presented in the juvenile form than in the adult form of late-onset Pompe disease. It was found that speech nasality and electroglottographic tests are more repeatable, comparable and versatile than phoniatric examination, allowing for earlier detection of voice pathology in late-onset Pompe disease. These sensitive and non-invasive acoustic and electroglottographic methods allow for the tracking of changes in voice as patients undergo treatment or as the disease progresses.
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