Abstract
BackgroundPompe 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.MethodsThe 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.ResultsDysphonia 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.ConclusionsIt 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.
Highlights
Pompe disease is a progressive metabolic myopathy
Nasalance recording of the following sounds was carried out: sequences of the Polish vowels /y/ /e/ /a/ /o/ /u/ /i/; voiced plosives separated by vowels; and nasal consonants separated by vowels and the sustained vowel /i/
Electroglottographic, acoustic and nasalance measurement methods all proved to be more sensitive, repeatable, comparable and versatile than phoniatric examination. These methods are suitable for assessing voice quality and allow an evaluation of voice impairment in patients with late-onset Pompe disease
Summary
Pompe disease is a progressive metabolic myopathy. Disease progression is characterized, among other features, by progressive dysfunction of the voice apparatus. Papers published to date have not employed electroglottographic, acoustic nor nasalance testing methods in the clinical assessment of late-onset Pompe disease These investigative methods have been successfully used to study voice disorders [7,8,9] and are widely available, inexpensive and non-invasive. The authors wished to study whether these methods could be applied to assess voice quality and thereby measure the effectiveness of ERT in late-onset Pompe disease on the functioning of the voice apparatus. These methods are automated and possess the advantages of objectivity, repeatability and comparability. According to Jones et al [6] it is important to find methods that increase suspicion of late-onset Pompe disease
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