Hearing loss associated with enlarged vestibular aqueduct and zero or one mutant allele of SLC26A4. (15th November 2016)

• Record Type: Journal Article
• Authors: Rose, Jane; Muskett, Julie A.; King, Kelly A.; Zalewski, Christopher K.; Chattaraj, Parna; Butman, John A.; Kenna, Margaret A.; Chien, Wade W.; Brewer, Carmen C.; Griffith, Andrew J.
• Is Part Of: Laryngoscope. Volume 127:Number 7(2017)
• Page Start: E238
• Page End: E243
• Publication Date: 2016-11-15
• Subjects: Cochlear implant -- congenital anomalies -- fluctuation -- hearing loss -- natural history -- non‐syndromic -- otology -- pediatric otology -- Pendred syndrome -- progression -- SLC26A4; Otolaryngology -- Periodicals; 617.51005
• DOI: 10.1002/lary.26418
• Languages: English
• ISSNs: 0023-852X

Abstract

Abstract : Objectives/Hypothesis: To characterize the severity and natural history of hearing loss, and the prevalence of having a cochlear implant in a maturing cohort of individuals with enlarged vestibular aqueduct (EVA) and zero or one mutant allele of SLC26A4 . Study Design: Prospective cohort study of subjects ascertained between 1998 and 2015 at the National Institutes of Health Clinical Center. Methods: Study subjects were 127 individuals (median age, 8 years; range, 0–59 years) with EVA in at least one ear. Results: Ears with EVA and zero or one mutant allele of SLC26A4 had mean 0.5/1/2/4‐kHz pure‐tone averages of 62.6 and 52.9 dB HL, respectively, in contrast to EVA ears with two mutant alleles of SLC26A4 (88.1 dB HL; P < .01). This association was independent of age, sex, or side of EVA ( P < .001). Natural history of hearing loss was not associated with number of mutant alleles ( P = .94). The prevalence of having a cochlear implant was nine (12%) of 76, two (13%) of 15, and 12 (38%) of 32 subjects with zero, one, and two mutant alleles, respectively ( P = .00833). This association was not independent ( P = .534) but reflected underlying correlations with age at time of first audiogram ( P = .003) or severity of hearing loss ( P = .000). Conclusions: Ears with EVA and zero or one mutant allele of SLC26A4 have less severe hearing loss, no difference in prevalence of fluctuation, and a lower prevalence of cochlear implantation in comparison to ears with two mutant alleles of SLC26A4 . Level of Evidence: NA Laryngoscope, 127:E238–E243, 2017