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Analysis of voice quality in patients with late-onset Pompe disease.
Orphanet J Rare Dis. 2016 07 15; 11(1):99.OJ

Abstract

BACKGROUND

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.

METHODS

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.

RESULTS

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.

CONCLUSIONS

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.

Authors+Show Affiliations

Multimedia Department, Polish-Japanese Academy of Information Technology, Warsaw, Poland. kszklanny@pjwstk.edu.pl.Multimedia Department, Polish-Japanese Academy of Information Technology, Warsaw, Poland.Department of Audiology and Phoniatrics, The Children's Memorial Health Institute, Warsaw, Poland.Department of Paediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

27417441

Citation

Szklanny, Krzysztof, et al. "Analysis of Voice Quality in Patients With Late-onset Pompe Disease." Orphanet Journal of Rare Diseases, vol. 11, no. 1, 2016, p. 99.
Szklanny K, Gubrynowicz R, Iwanicka-Pronicka K, et al. Analysis of voice quality in patients with late-onset Pompe disease. Orphanet J Rare Dis. 2016;11(1):99.
Szklanny, K., Gubrynowicz, R., Iwanicka-Pronicka, K., & Tylki-Szymańska, A. (2016). Analysis of voice quality in patients with late-onset Pompe disease. Orphanet Journal of Rare Diseases, 11(1), 99. https://doi.org/10.1186/s13023-016-0480-5
Szklanny K, et al. Analysis of Voice Quality in Patients With Late-onset Pompe Disease. Orphanet J Rare Dis. 2016 07 15;11(1):99. PubMed PMID: 27417441.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Analysis of voice quality in patients with late-onset Pompe disease. AU - Szklanny,Krzysztof, AU - Gubrynowicz,Ryszard, AU - Iwanicka-Pronicka,Katarzyna, AU - Tylki-Szymańska,Anna, Y1 - 2016/07/15/ PY - 2015/12/28/received PY - 2016/07/04/accepted PY - 2016/7/16/entrez PY - 2016/7/16/pubmed PY - 2017/11/8/medline KW - Acoustic methods KW - Electroglottography KW - Genetic disorder KW - Metabolic disorders KW - Myopathy KW - Nasalance measurement KW - Pompe disease KW - Vocal folds KW - Voice disorders KW - Voice quality SP - 99 EP - 99 JF - Orphanet journal of rare diseases JO - Orphanet J Rare Dis VL - 11 IS - 1 N2 - BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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. SN - 1750-1172 UR - https://www.unboundmedicine.com/medline/citation/27417441/Analysis_of_voice_quality_in_patients_with_late_onset_Pompe_disease_ L2 - https://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0480-5 DB - PRIME DP - Unbound Medicine ER -