title: Hearing impairment in genotyped Wolfram syndrome patients.
abstract: OBJECTIVE
  Wolfram syndrome is a progressive neurodegenerative syndrome characterized by the features "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). We sought to study the audiometric data of genotyped Wolfram syndrome patients with sensorineural hearing impairment.
  
  
  METHODS
  Pure tone threshold data of 23 Wolfram syndrome patients were used for cross-sectional analysis in subgroups (age less than 16 years or between 19 and 25 years, gender, and origin).
  
  
  RESULTS
  All subgroups, with 1 exception, showed a fairly similar type of hearing impairment with, on average, thresholds of about 25 dB (range, 0 to 65 dB) at 0.25 to 1 kHz, gently sloping downward to about 60 dB (range, 25 to 95 dB) at 8 kHz. The subgroup of Dutch women, which was excluded from the calculations of the average hearing thresholds, showed a higher degree of hearing impairment. Only the latter subgroup showed progression; however, contrary to the previous longitudinal analysis, progression was not significant in the present cross-sectional analysis, presumably because of the high degree of cross-subject variability.
  
  
  CONCLUSIONS
  This unique collection of audiometric data from genotyped Wolfram syndrome patients shows no substantial progression in sensorineural hearing impairment with advancing age, no relation to the types of WFS1 mutations identified, and, with exclusion of the subgroup of Dutch female patients, no significant sex-related differences.
authors.affiliation: Department of Otorhinolaryngology, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands.
authors.forename: Rutger F
authors.initials: RF
authors.lastname: Plantinga
authors.forename: Ronald J E
authors.initials: RJ
authors.lastname: Pennings
authors.forename: Patrick L M
authors.initials: PL
authors.lastname: Huygen
authors.forename: Rocco
authors.initials: R
authors.lastname: Bruno
authors.forename: Philipp
authors.initials: P
authors.lastname: Eller
authors.forename: Timothy G
authors.initials: TG
authors.lastname: Barrett
authors.forename: Bernard
authors.initials: B
authors.lastname: Vialettes
authors.forename: Veronique
authors.initials: V
authors.lastname: Paquis-Fluklinger
authors.forename: Fortunato
authors.initials: F
authors.lastname: Lombardo
authors.forename: Cor W R J
authors.initials: CW
authors.lastname: Cremers
mesh_terms: D000293:Adolescent; D000328:Adult; D020237:Alexia, Pure; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000503:physiopathology*; D006801:Humans; D008297:Male; D014929:Wolfram Syndrome / Q000235:genetics* / Q000503:physiopathology*