Significance of audiological phenotypes to early diagnosis of large vestibular aqueduct syndrome
ZHANG Yu
WANG Youqin
GUO Hongyuan
LAN Li
LIU Yuqing
Abstract：Objective To report audiologic phenotype characteristics of patients with large vestibular aqueduct syn-drome (LVAS) and their significance in early diagnosis. Methods The history, audiology and genetic test results of 63 pa-tients with LVAS were reviewed. Fifty eight non-LVAS hearing impaired children served as the control, Results In 58 cas-es undergoing auditory brainstem response (ABR) testing, 29 (50%) showed acoustically evoked short latency negative re-sponses (ASNR) with an average latency of 2.56±0.39 ms. ASNRs were not found in the control group. Pure tone audiome-try was performed in 22 cases (44 ears) and showed mixed hearing loss in 10 cases (20 ears, 45.45%), and air-bone gap in low frequency in 11 ears. Tympanogram was type A in 12 ears (including As in 2 ears), of which 8 produced acoustic reflex. Twenty six cases underwent SLC26A4 gene screening, which showed homozygous mutation in 11 cases, single heterozy-gous mutation in 13 cases and no mutation in 2 cases, yielding a total positive rate of 92.31%(24/26). Conclusion Large vestibular conduct syndrome has a characteristic audiologic presentation that includes ABR negative waves, air-bone gaps at low frequencies and normal tympanograms. These characteristics are important in the diagnosis of hearing loss at first pre-sentation as well as its management.
Keywords：Large vestibular aqueduct syndromeAcoustically evoked short latency negative responseAir-bone gap
Publication Date：2016-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 57-61 )