Titre du document

Speech characteristics in neurofibromatosis type 1

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Nom du corpus

Ortho

Auteur(s)
  • Lotta Alivuotila 1
  • Jussi Hakokari 2
  • Vivian Visnapuu 3,4
  • Anna‐Maija Korpijaakko‐Huuhka 5
  • Olli Aaltonen 6
  • Risto‐Pekka Happonen 1,4
  • Sirkku Peltonen 7,8
  • Juha Peltonen 3,9
Affiliation(s)
  • Department of Oral and Maxillofacial Surgery, University of Turku, Turku, Finland
  • Division of Bioinformatics, Department of Information Technology, University of Turku, Turku, Finland
  • Department of Cell Biology and Anatomy, University of Turku, Turku, Finland
  • Department of Oral Diseases, Turku University Central Hospital, Turku, Finland
  • Department of Speech Communication and Voice Research, University of Tampere, Tampere, Finland
  • Department of Speech Sciences, University of Helsinki, Helsinki, Finland
  • Department of Dermatology, University of Turku, Turku, Finland
  • Department of Dermatology, Turku University Central Hospital, Turku, Finland
  • Correspondence address: Department of Cell Biology and Anatomy, Institute of Biomedicine, University of Turku, Kiinanmyllynkatu 10, FIN‐20520 Turku, Finland.
Langue(s) du document
Anglais
Revue

American Journal of Medical Genetics Part A

Éditeur
Wiley
Année de publication
2010
Type de publication
Journal
Type de document
Article
Résumé

Neurofibromatosis 1 (NF1) is a neurocutaneous‐skeletal disorder often accompanied with varying degrees of cognitive and motor problems that potentially affect speech and language. While previous studies have shown that NF1 may be associated with a variety of deviations in the patients' speech, they have not investigated the characteristics in phonetic detail. Our clinical observation that many patients share a distinct voice and manner of speaking led to the primary aim of this study, which was to present a comprehensive description of speech in NF1. A total of 62 patients with NF1 (age range 7–66 years), and a control group of 24 speakers (age range 7–62 years) were evaluated for their speech. The test sessions were recorded and the data were analyzed both by ear and by acoustic measurements. The data were analyzed separately by two trained phoneticians, and a summary was produced after comparing the two independent analyses. Various speech problems were observed among patients with NF1. Individual variation was remarkable, but the deviations were more common and severe in children than in adult patients. In addition, men with NF1 had more speech deviations than women with NF1. Findings include deviations in voice quality, problems in regulating pitch, deviant nasality, misarticulation, and disfluency. We suggest that difficulties in speech, particularly in regulating pitch, may have negative social implications. Our results highlight which components of speech require particular attention in speech therapy for patients with NF1. © 2009 Wiley‐Liss, Inc.

Mots-clés d'auteur
  • neurofibromatosis 1
  • speech deficit
  • phonation
  • articulation
  • pitch
  • fluency
Catégories INIST
  • 1 - sciences appliquees, technologies et medecines ; 2 - sciences biologiques et medicales ; 3 - sciences medicales
Score qualité du texte
9.868
Version PDF
1.3
Présence de XML structuré
Oui
Identifiant ISTEX
83256801F5A872DCEDF380906BF063A78B540C4C
Nom du fichier dans la ressource
ortho-ang_0434
ark:/67375/WNG-1XHRXHZJ-1
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