Audiology and Pathogenic Genes Characteristics in Children with Large Vestibular Aqueduct Syndrome
PENG Dandan
ZHANG Jinhui
Abstract：Objective To report audiology and pathogenic genes characteristics in infants and children with large vestibular aqueduct syndrome(LVAS),to provide basis for early diagnosis,intervention and genetic counseling.Meth-od Audiology and deafness gene test data were retrospectively analyzed in 39 children(0-10 years old,78 ears)with large vestibular aqueduct syndrome diagnosed by HRCT or MRI.Results ABR tests showed specific acoustically evoked short latency negative responses(ASNRs)at 3ms in 26 cases(51 ears,64.56％).DPOAEs were negative in all 78 ears.Tympanometry was type A with a single positive pressure peak in all ears,with acoustic reflex obtainable in 6 ears.Twenty eight children(56 ears)were able to cooperate in audiometry,in whom 42 ears(75％)demonstrated air-bone gap over low to mid frequencies(＜2 kHz)and mixed high frequency loss.In the 12 cases(24 ears)in which ABRs were absent at the maximum stimulus output,auditory steady-state responses(ASSRs)were obtainable in 21 ears(87.5％).A total of 21 homozygous mutations and 18 complex heterozygous mutations of the SLC26A4 gene were de-tected.Conclusion Audiologic features in children with LVAS may include normal middle ear function with pure tone audiometry showing air-bone gap over low to mid frequencies and ABR test showing ASNRs,which can be used for ear-ly diagnosis of LVAS.In the case of absent ABRs,ASSRs can be used to assess residual hearing in these children.Anal-ysis of the SLC26A4 gene full coding region sequence is an effective means to identify the genetic etiology in children with LVAS.
Keywords：sarge vestibular aqueduct syndromeacoustically evoked short latency negative responseair-bone gapSLC26A4 gene
Publication Date：2023-12-28
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：6( 830-835 )