Auditory function and hearing loss in children and adults with Williams syndrome: Cochlear impairment in individuals with otherwise normal hearingHow to cite this article: Marler JA, Sitcovsky JL, Mervis CB, Kistler DJ, Wightman FL. 2010. Auditory function and hearing loss in children and adults with Williams syndrome: Cochlear impairment in individuals with otherwise normal hearing. Am J Med Genet Part C Semin Med Genet 154C:249–265.

Autor: Marler, Jeffrey A., Sitcovsky, Jessica L., Mervis, Carolyn B., Kistler, Doris J., Wightman, Frederic L.
Zdroj: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics; May 2010, Vol. 154 Issue: 2 p249-265, 17p
Abstrakt: Hearing loss is common in schoolage individuals with Williams syndrome WS and extensive in adults. Prior studies with relatively small sample sizes suggest that hearing loss in WS has an early onset and may be progressive, yet the auditory phenotype and the scope of the hearing loss have not been adequately characterized. We used standard audiometric tools: Otoscopy, tympanometry, airconduction bone conduction when available behavioral testing, and distortion product otoacoustic emissions DPOAEs to measure hearing sensitivity and outer hair cell function. We tested 81 individuals with WS aged 5.33–59.50 years. Sixtythree percent of the schoolage and 92 of the adult participants had mild to moderatelysevere hearing loss. The hearing loss in at least 50 was sensorineural. DPOAE testing corroborated behavioral results. Strikingly, 12 of 14 participants with hearing within normal limits bilaterally had 4,000Hz DPOAE inputoutput DPOAE IO functions indicative of outer hair cell damage and impaired cochlear compression. Our results indicate that hearing loss is very common in WS. Furthermore, individuals with WS who have “normal” hearing as defined by behavioral thresholds may actually have subclinical impairments or undetected cochlear pathology. Our findings suggest outer hair cell dysfunction in otherwise normal hearing individuals. The DPOAE IO in this same group revealed growth functions typically seen in groups with noiseinduced damage. Given this pattern of findings, individuals with WS may be at increased risk of noiseinduced hearing loss. Recommendations regarding audiological testing for individuals with WS and accommodations for these individuals in both academic and nonacademic settings are provided. © 2010 WileyLiss, Inc.
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