Voice Characteristics in Adults With Neurofibromatosis Type 1 |
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Authors: | Marjan Cosyns Geert Mortier Paul Corthals Sandra Janssens John Van Borsel |
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Affiliation: | ∗Department of Otorhinolaryngology and Logopaedic & Audiologic Sciences, Ghent University, Ghent, Belgium;†Department of Medical Genetics, Ghent University Hospital, Ghent, Belgium;‡Department of Health Care Vesalius, University College Ghent, Ghent, Belgium;§Department of Medical Genetics, Antwerp University Hospital, Antwerp, Belgium |
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Abstract: | Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder caused by mutations in the NF1 gene, which is located at the long arm of chromosome 17. Major characteristics include multiple café-au-lait spots and neurofibromas. Voice abnormalities have been reported to occur in this patient group. However, most studies relied on subjective measurements only. The present study reports the results of an objective voice assessment based on a multiparameter approach in 22 adults with NF1. Aerodynamic measurements, voice range profiles, acoustic voice quality and intonation measurements, and dysphonia severity indices were obtained and compared with data from a control group, consisting of 22 healthy adults. It was found that NF1 patients show a poorer overall voice quality compared with controls. Particularly, a reduction of vital capacity and limitations in laryngeal possibilities with respect to frequency and intensity were observed in the NF1 group. |
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Keywords: | Neurofibromatosis type 1 Voice Aerodynamic measurement Voice range profile Acoustic analysis Dysphonia severity index |
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