Autosomal dominant non-syndromal low-frequency sensorineural hearing impairment linked to chromosome 4p16 (DFNA14): statistical analysis of hearing threshold in relation to age and evaluation of vestibulo-ocular functions

Audiology. 1999 May-Jun;38(3):165-73. doi: 10.3109/00206099909073018.

Abstract

A Dutch kindred was studied with low-frequency sensorineural hearing impairment linked to a new locus on chromosome 4p16 (DFNA14). Of the affected individuals, 21 (aged 11-75 years) were examined and the most recent audiogram was used for cross-sectional analysis of hearing threshold in relation to age. Suitable serial audiograms were available for a longitudinal analysis in nine cases: they had been obtained from the age of six years onwards and covered a follow-up period from 14 to 36 years. The presumably congenital (offset) component of SNHI was extrapolated or estimated from average values and offset thresholds were found of about 45 dB at 0.25-1 kHz, 25 dB at 2 kHz and 10 dB at 4-8 kHz. Significant progression in hearing impairment occurred at all frequencies, but could be attributed to presbyacusis. The combination of congenital, stationary low-frequency SNHI and presbyacusis resulted in an up-sloping audiogram in the first five decades of life, which evolved into a flat-type audiogram in the sixth or seventh decade and a down-sloping audiogram at a more advanced age. With few exceptions, vestibular function was intact.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Aged
  • Aging / physiology
  • Audiometry, Pure-Tone / methods
  • Audiometry, Pure-Tone / statistics & numerical data*
  • Auditory Threshold / physiology*
  • Child
  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • Chromosomes, Human, Pair 4 / genetics*
  • Cross-Sectional Studies
  • Female
  • Follow-Up Studies
  • Genetic Linkage / genetics
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Male
  • Middle Aged
  • Nystagmus, Pathologic / diagnosis
  • Pedigree
  • Reflex, Vestibulo-Ocular / physiology*