Further delineation of the DFNA5 phenotype: results of speech recognition tests

Ann Otol Rhinol Laryngol. 2002 Jul;111(7 Pt 1):639-41. doi: 10.1177/000348940211100712.

Abstract

Speech recognition scores were analyzed in 34 carriers of a DFNA5 mutation. Cross-sectional linear regression analysis (last visit, maximum recognition score in %Correct on age or PTA1,2,4 kHz) established onset age (score 90%) at 16 years and onset PTA1,2,4 kHz level (score 90%) at 41 dB hearing level. The deterioration rate was 0.7%/y in the plot of maximum score against age, whereas the deterioration gradient was 0.4%/dB in the plot of maximum score against PTA1,2,4 kHz. Given the previously demonstrated rapid progression of hearing impairment, speech recognition was relatively good: at age 70, the score was still >50%.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Audiometry, Pure-Tone
  • Carrier Proteins / genetics*
  • Child
  • Cross-Sectional Studies
  • Hearing Loss, Sensorineural / diagnosis
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Middle Aged
  • Phenotype
  • Phonetics
  • Point Mutation / genetics
  • Receptors, Estrogen*
  • Severity of Illness Index
  • Speech Perception / physiology*
  • Speech Reception Threshold Test

Substances

  • Carrier Proteins
  • GSDME protein, human
  • Receptors, Estrogen