Further delineation of the DFNA5 phenotype: results of speech recognition tests.
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%.
De Leenheer
Els M R
EM
van Zuijlen
Diederick A
DA
Van Laer
Lut
L
Van Camp
Guy
G
Huygen
Patrick L M
PL
Huizing
Egbert H
EH
Cremers
Cor W R J
CW
D000293:Adolescent; D000328:Adult; D000368:Aged; D001301:Audiometry, Pure-Tone; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D003430:Cross-Sectional Studies; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D010641:Phenotype; D010700:Phonetics; D017354:Point Mutation / Q000235:genetics; D011960:Receptors, Estrogen; D012720:Severity of Illness Index; D013067:Speech Perception / Q000502:physiology*; D013069:Speech Reception Threshold Test; D000094524:Gasdermins
D002352:Carrier Proteins; D011960:Receptors, Estrogen; C111432:GSDME protein, human; D000094524:Gasdermins