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Journal of the Association for Research in Otolaryngology
Article . 2006 . Peer-reviewed
License: Springer TDM
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Audiological Evaluation of Affected Members from a Dutch DFNA8/12 (TECTA) Family

Authors: Plantinga, R.F.; Cremers, C.W.R.J.; Huygen, P.L.M.; Kunst, H.P.M.; Bosman, A.J.;

Audiological Evaluation of Affected Members from a Dutch DFNA8/12 (TECTA) Family

Abstract

In DFNA8/12, an autosomal dominantly inherited type of nonsyndromic hearing impairment, the TECTA gene mutation causes a defect in the structure of the tectorial membrane in the inner ear. Because DFNA8/12 affects the tectorial membrane, patients with DFNA8/12 may show specific audiometric characteristics. In this study, five selected members of a Dutch DFNA8/12 family with a TECTA sensorineural hearing impairment were evaluated with pure-tone audiometry, loudness scaling, speech perception in quiet and noise, difference limen for frequency, acoustic reflexes, otoacoustic emissions, and gap detection. Four out of five subjects showed an elevation of pure-tone thresholds, acoustic reflex thresholds, and loudness discomfort levels. Loudness growth curves are parallel to those found in normal-hearing individuals. Suprathreshold measures such as difference limen for frequency modulated pure tones, gap detection, and particularly speech perception in noise are within the normal range. Distortion otoacoustic emissions are present at the higher stimulus level. These results are similar to those previously obtained from a Dutch DFNA13 family with midfrequency sensorineural hearing impairment. It seems that a defect in the tectorial membrane results primarily in an attenuation of sound, whereas suprathreshold measures, such as otoacoustic emissions and speech perception in noise, are preserved rather well. The main effect of the defects is a shift in the operation point of the outer hair cells with near intact functioning at high levels. As most test results reflect those found in middle-ear conductive loss in both families, the sensorineural hearing impairment may be characterized as a cochlear conductive hearing impairment.

Keywords

Adult, Family Health, Male, Extracellular Matrix Proteins, DCN 1: Perception and Action, Membrane Glycoproteins, Hearing Loss, Sensorineural, DCN 2: Functional Neurogenomics, Otoacoustic Emissions, Spontaneous, Auditory Threshold, GPI-Linked Proteins, UMCN 5.1: Genetic defects of metabolism, Pedigree, Hair Cells, Auditory, Outer, UMCN 3.3: Neurosensory disorders, Psychophysics, Speech Perception, Audiometry, Pure-Tone, Humans, Female, Audiometry, Speech, Netherlands

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
28
Average
Top 10%
Top 10%
Green
bronze