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Laryngoscope. 2017 Jul;127(7):E238-E243. doi: 10.1002/lary.26418. Epub 2016 Nov 15.

Hearing loss associated with enlarged vestibular aqueduct and zero or one mutant allele of SLC26A4.

Author information

1
Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland.
2
Radiology and Imaging Sciences, Clinical Center, National Institutes of Health, Bethesda, Maryland.
3
Department of Otology and Laryngology, Harvard Medical School, Boston, Massachusetts.
4
Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, Massachusetts.
5
Office of the Clinical Director, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, U.S.A.

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.

KEYWORDS:

Cochlear implant; Pendred syndrome; SLC26A4; congenital anomalies; fluctuation; hearing loss; natural history; non-syndromic; otology; pediatric otology; progression

PMID:
27859305
PMCID:
PMC6224160
DOI:
10.1002/lary.26418
[Indexed for MEDLINE]
Free PMC Article

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