Prediction of hearing change in children with enlarged vestibular aqueduct with different genotypes by linear mixed-effects model.
10.13201/j.issn.2096-7993.2025.08.005
- Author:
Lin DENG
1
;
Lihui HUANG
1
;
Xiaohua CHENG
1
;
Yiding YU
1
;
Yue LI
1
;
Shan GAO
1
;
Yu RUAN
1
;
Jinge XIE
1
Author Information
1. Department of Otorhinolaryngology Head and Neck Surgery，Beijing Tongren Hospital，Capital Medical University，Beijing Institute of Otolaryngology，Key Laboratory of Otolaryngology Head and Neck Surgery（Capital Medical University.
- Publication Type:Journal Article
- Keywords:
SLC26A4 gene;
enlarged vestibular aqueduct;
linear mixed-effects model;
progressive hearing loss
- MeSH:
Humans;
Vestibular Aqueduct/abnormalities*;
Genotype;
Sulfate Transporters;
Mutation;
Auditory Threshold;
Hearing Loss, Sensorineural/genetics*;
Male;
Female;
Child;
Child, Preschool;
Hearing Loss/genetics*;
Hearing Tests;
Linear Models;
Infant
- From:
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
2025;39(8):717-723
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the hearing changes of children with different genotypes of SLC26A4 with enlarged vestibular aqueduct（EVA） using the linear mixed effect model（LMM）, providing evidence for the risk prediction of progressive hearing loss. Methods:A total of 48 children with EVA diagnosed in our hospital from January 2017 to January 2024. All subjects underwent two or more auditory tests. According to the results of deafness gene screening and sequencing, the genotypes are divided into: type A: homozygous mutation of c. 919-2A>G, type B: compound heterozygous or heterozygous mutation containing c. 919-2A>G, and type C: no mutation site of c. 919-2A>G of SLC26A4 gene. LMM was used to analyze the hearing thresholds change of 500 Hz, 1 000 Hz, 2 000 Hz, 4 000 Hz and the average in children with different genotypes with age. Results:A total of 92 ears, 314 audiograms of 48 children were included, the median number of audiograms was 3, the median age of initial diagnosis was 4 months, and the median follow-up time was 13 months. According to LMM, the standard deviation of random effects between patients and ears was large. There was no significant difference in hearing thresholds of different frequencies and the average in genotype A, genotype B, and genotype C, indicating that genotype had no effect on hearing threshold. There is an interaction between age and genotype. Taking genotype C as the reference, children with genotype B had the lowest increase in 500 Hz, 1000 Hz, and the average hearing threshold, followed by type A. Conclusion:EVA children exhibit substantial inter-individual/ear hearing threshold variability. Low-frequency thresholds progress slower than high frequencies. Genotype modulates progression rates, with wild-type（Type C） demonstrating fastest deterioration, supporting personalized auditory monitoring strategies.
