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.
Original language | English (US) |
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Pages (from-to) | E238-E243 |
Journal | Laryngoscope |
Volume | 127 |
Issue number | 7 |
DOIs | |
State | Published - Jul 2017 |
Externally published | Yes |
Keywords
- Cochlear implant
- Pendred syndrome
- SLC26A4
- congenital anomalies
- fluctuation
- hearing loss
- natural history
- non-syndromic
- otology
- pediatric otology
- progression
ASJC Scopus subject areas
- Otorhinolaryngology