title: Audiologic performance and benefit of cochlear implantation in Usher syndrome type I.
abstract: OBJECTIVE
  The objective of this retrospective study was to evaluate the benefit and performance of cochlear implantation in patients with Usher syndrome type 1 (USH1).
  
  
  METHODS
  Fourteen patients with a clinical diagnosis of USH1 were included. Mutation analysis of USH1 genes was performed in all of them. All patients filled in the G(C)BI questionnaire, which measures the benefit of implantation. In addition, equivalent hearing level scores (EHL) were calculated to measure performance. Correlations between the mentioned parameters were studied.
  
  
  RESULTS
  One or two pathogenic mutations were identified in seven of the 14 examined patients. Similar to previous studies, it was demonstrated that implantation at an earlier age results in better performance than implantation at higher age. Cochlear implantation performed within the first 2 decades of life was beneficial to 13 of 14 (93%) of the patients with USH1. Finally, the EHL score and the G(C)BI score showed a significant correlation; the benefit of implantation increases with a decreasing EHL score.
  
  
  CONCLUSIONS
  Cochlear implantation in patients with USH1 improves the audiologic performance when patients are implanted at an earlier age and is beneficial according to the G(C)BI when performed within the first 2 decades of life.
authors.affiliation: Department of Otorhinolaryngology, Radboud University Medical Centre Nijmegen, Nijmegen, The Netherlands.
authors.forename: Ronald J E
authors.initials: RJ
authors.lastname: Pennings
authors.forename: Godelieve W J A
authors.initials: GW
authors.lastname: Damen
authors.forename: Ad F M
authors.initials: AF
authors.lastname: Snik
authors.forename: Lies
authors.initials: L
authors.lastname: Hoefsloot
authors.forename: Cor W R J
authors.initials: CW
authors.lastname: Cremers
authors.forename: Emmanuel A M
authors.initials: EA
authors.lastname: Mylanus
mesh_terms: D000293:Adolescent; D000328:Adult; D001301:Audiometry, Pure-Tone; D001309:Auditory Threshold; D002648:Child; D002675:Child, Preschool; D019929:Cochlear Implantation / Q000379:methods*; D015331:Cohort Studies; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D011788:Quality of Life; D012189:Retrospective Studies; D018570:Risk Assessment; D012720:Severity of Illness Index; D016896:Treatment Outcome; D052245:Usher Syndromes / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery*