An investigation of voice quality in individuals with inherited elastin gene abnormalities.
The human elastin gene (ELN) is responsible for the generation of elastic fibres in the extracellular matrix of connective tissue throughout the body, including the vocal folds. Individuals with Supravalvular aortic stenosis (SVAS) and Williams syndrome (WS) lack one normal ELN allele due to heteroz...
| Publicado en: | Clinical Linguistics & Phonetics Vol. 22; no. 3; pp. 199 - 214 |
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| Autores principales: | , , |
| Formato: | research tables/charts Journal Article |
| Publicado: |
Taylor & Francis Ltd
Mar2008
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=105744748&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 105744748 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 02699206 B6X jtl: Clinical Linguistics & Phonetics issn: 02699206 maglogo: Y pubinfo: dt: Mar2008 vid: 22 iid: 3 pid: 377 pub: Taylor & Francis Ltd place: Philadelphia, Pennsylvania artinfo: ui: 105744748 2009882097 10.1080/02699200701803361 NLM18307085 105744748 ppf: 199 ppct: 15 formats: fmt: @attributes: type: P tig: atl: An investigation of voice quality in individuals with inherited elastin gene abnormalities. aug: au: Watts CR Awan SN Marler JA affil: Department of Communication Sciences & Disorders, James Madison University, VA. sug: subj: Aortic Valve Stenosis Familial and Genetic Voice Quality Evaluation Williams Syndrome Familial and Genetic Adolescence Adult Analysis of Variance Biomechanics Descriptive Statistics Experimental Studies Female Interrater Reliability Intraclass Correlation Coefficient Male Mann-Whitney U Test Mutation Phonation Speech Acoustics Speech Production Measurement Vocal Cords Abnormalities Human Adolescent: 13-18 years Adult: 19-44 years Female Male ab: The human elastin gene (ELN) is responsible for the generation of elastic fibres in the extracellular matrix of connective tissue throughout the body, including the vocal folds. Individuals with Supravalvular aortic stenosis (SVAS) and Williams syndrome (WS) lack one normal ELN allele due to heterozygous ELN abnormalities, resulting in a haploinsufficiency. We measured perceptual and acoustic characteristics of voice quality in individuals with SVAS and WS to investigate the consequences to vocal function secondary to ELN haploinsufficiency. Results indicated that the voice quality of individuals with SVAS/WS was rated as significantly more abnormal, rough, and hoarse compared to normal controls, and that adults with SVAS/WS were rated as significantly lower in pitch. Acoustic measures indicated that individuals with SVAS/WS produced greater instability of fundamental frequency during phonation (as reflected via increased pitch sigma and increased jitter). These findings support the possibility that heterozygous ELN abnormalities negatively influence vocal fold biomechanics and the resulting sound produced by the vibrating glottis. pubtype: Academic Journal doctype: research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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