Titre du document

Speech and hearing in adults with 22q11.2 deletion syndrome

Lien vers le document
Nom du corpus

Ortho

Auteur(s)
  • Christina Persson 1,2
  • Vanda Friman 3
  • Sólveig Óskarsdóttir 4
  • Radi Jönsson 5
Affiliation(s)
  • Division of Speech and Language Pathology, Institute of Neuroscience and Physiology, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
  • Correspondence address: Division of Speech and Language Pathology, Institute of Neuroscience and Physiology, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
  • Department of Infectious Diseases, Institute of Clinical Sciences, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
  • Department of Paediatrics, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
  • Department of Otorhinolaryngology, Sahlgrenska University Hospital, Gothenburg, Sweden
Langue(s) du document
Anglais
Revue

American Journal of Medical Genetics Part A

Éditeur
Wiley
Année de publication
2012
Type de publication
Journal
Type de document
Article
Résumé

The purpose of the study was to investigate the prevalence of velopharyngeal impairment, compensatory articulation, reduced intelligibility, and to rate the general impression of speech in adults with 22q11.2 deletion syndrome. The second purpose was to study the prevalence and type of hearing impairment in these adults. A referred, consecutive series of 24 adults with confirmed 22q11.2 deletion, 16 female and 8 males, with a mean age of 25 years (19–38 years) was included in the study. A blind assessment of speech by three experienced speech‐ language pathologists was performed. Sixteen (66%) patients had a mild to severe velopharyngeal impairment. The most prevalent symptoms of velopharygeal impairment were hypernasality and audible nasal airflow. The mean nasalance score was 33% (6–66%). Only two patients had disordered articulation; one of these had glottal articulation. A mean of 96% (88–100%) of single words were rated to be intelligible. To achieve these results half of the patients previously had velopharyngeal flap surgery. Forty‐one percent (9/22) had mild–moderate hearing impairment; three had sensorineural type, four conductive and two had a mixed type. In conclusion the majority of the patients had no articulation errors and good intelligibility; while one‐third still had moderate to severe problems with velopharyngeal impairment. Around 40% still had some hearing impairment, in most cases with a mild to moderate conductive component. Thus, a high prevalence of speech and hearing problems seems to be a part of the phenotype in adults with 22q11.2DS. © 2012 Wiley Periodicals, Inc.

Mots-clés d'auteur
  • 22q11.2 deletion syndrome
  • adults
  • speech
  • hearing
Catégories INIST
  • 1 - sciences appliquees, technologies et medecines ; 2 - sciences biologiques et medicales ; 3 - sciences medicales
Score qualité du texte
9.676
Version PDF
1.3
Présence de XML structuré
Oui
Identifiant ISTEX
1C8C15FE66040EAF99AA96BE733798D08EE35B78
Nom du fichier dans la ressource
ortho-ang_0421
ark:/67375/WNG-RST74N1Q-P
Powered by Lodex 9.8.2