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  • Title: Audiological characteristics of some affected members of a Dutch DFNA13/COL11A2 family.
    Author: De Leenheer EM, Bosman AJ, Kunst HP, Huygen PL, Cremers CW.
    Journal: Ann Otol Rhinol Laryngol; 2004 Nov; 113(11):922-9. PubMed ID: 15562903.
    Abstract:
    Members of a Dutch DFNA13/COL11A2 family were evaluated with pure tone audiometry, stapedial reflexes, otoacoustic emissions, loudness scaling, difference limen for frequency, gap detection, and speech perception in quiet and noise. The tone audiometry showed a predominant loss for the low and middle frequencies, with only a few otoacoustic emissions at thresholds better than 25 dB hearing level. The stapedial reflexes appeared elevated, and loudness growth curves were shifted parallel to those for normal-hearing subjects, indicating a shift of the dynamic range toward higher presentation levels. The data for the difference limen for frequency, gap detection, and speech perception in noise fell within the (near-)normal range. Despite elevated thresholds, all suprathreshold functions showed fairly normal properties, suggesting an attenuation of signal energy in the cochlea with limited degradation of the cochlea's signal analyzing capabilities. The effect of DFNA13/COL11A2 may thus be characterized as a cochlear conductive loss.
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