title: Objective assessment of nasality in Flemish adults with neurofibromatosis type 1.
abstract: When characterizing the speech of a patient with neurofibromatosis type 1 (NF1), hypernasality is often mentioned. As few studies applied technically assisted evaluations of nasality in NF1 patients, the aim of the present study was to document the nasal resonance of adults with NF1 using nasometry. The nasometric data obtained from the NF1 patients were compared with the nasalance scores of a healthy control group and with normative data. The final study group consisted of 24 adult NF1 patients and 16 controls, all living in the East Flemish part of Belgium. Nasalance scores were obtained while the participants sustained three vowels (/a:/, /i./, and /u./) and one consonant (/m/) and read three standard nasalance passages. Despite the inter- and intra-subject variability, we observed that NF1 patients as a group exhibited higher mean nasalance scores than controls. This finding was especially clear in males. Potential genotype-phenotype correlations between NF1 mutation type and hypernasality were examined but could not be demonstrated. Conversely, comparison of the nasometric data obtained from the NF1 patients with magnetic resonance imaging findings showed some degree of interesting correlation. We conclude that, notwithstanding the small sample size for some analyses, nasality is an area of interest in the NF1 population. As altered nasality influences speech intelligibility, nasality requires attention during follow-up visits, particularly when it concerns a male NF1 patient.
authors: Department of Otorhinolaryngology and Logopaedic & Audiologic Sciences, Ghent University, Ghent, Belgium. marjan.cosyns@ugent.be
authors: Marjan
authors: M
authors: Cosyns
authors: Geert
authors: G
authors: Mortier
authors: Sandra
authors: S
authors: Janssens
authors: Kathleen
authors: K
authors: Claes
authors: John
authors: J
authors: Van Borsel
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D001530:Belgium; D001921:Brain / Q000002:abnormalities / Q000473:pathology; D016022:Case-Control Studies; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000208:ethnology* / Q000235:genetics; D012737:Sex Factors; D014832:Voice Disorders / Q000150:complications* / Q000208:ethnology* / Q000235:genetics; D055815:Young Adult