![]() ![]() Different etiologies are associated with different audiologic features, and auditory steady-state responses might serve as an objective measure for estimating behavioral thresholds.Īuditory neuropathy is a challenging clinical disorder accounting for ~10% of cases of sensorineural hearing loss (SNHL) in children 1, 2, 3. In conclusion, comprehensive assessments can provide etiological clues in ~75% of the children with auditory neuropathy. ![]() ![]() In patients with different etiologies or pathological sites, moderate to strong correlations (Pearson’s r = 0.51–0.83) were observed between behavioral thresholds and auditory steady-state response thresholds. Patients with acquired auditory neuropathy presented hearing loss earlier (odds ratio, 10.2 95% confidence interval, 2.2–47.4), whereas patients with genetic auditory neuropathy had higher presence rate of distortion product otoacoustic emissions (odds ratio, 10.7 95% confidence interval, 1.3–85.4). The most common causes of acquired and genetic auditory neuropathy were prematurity and OTOF mutations, respectively. Etiologically, 48 (47.5%), 16 (15.8%), 11 (10.9%), and 26 (25.7%) children were categorized as having acquired, genetic, cochlear nerve deficiency-related, and indefinite auditory neuropathy, respectively. This study used an integrative patient-history, audiologic, genetic, and imaging-based approach to investigate the etiologies and audiologic features of 101 children with auditory neuropathy. Due to diverse etiologies and clinical features, the management is often challenging. Based on our results, we propose a novel strategy that incorporates imaging studies, prevalent mutation screening and multiphasic analysis of TRS data in a stepwise manner to correctly detect DFNB9 in Koreans.Auditory neuropathy is an important entity in childhood sensorineural hearing loss. Multiphasic analysis of TRS data ensuring detection of capture failure and structural variations would be expected to reveal DFNB9 from a substantial portion of previously undiagnosed ANSD subjects in Koreans. In addition, we detected a structural variation within OTOF from a previously undiagnosed ANSD subject, which was the second structural variation reported in DFNB9 subjects to date.We identify a strong etiologic homogeneity of prelingual ANSD in case of the anatomically normal cochlear nerve in Koreans and now report DFNB9 as the single overwhelming cause. This variant was categorized as a simple SNP (rs201326023) in the database and it resided in the exon with frequent capture failures, which previously led to exclusion of this variant from eligible candidacy mistakenly. All of the 5 subjects carried at least 1 mutant allele carrying p.R1939Q. Through this study, we detected 2 mutant alleles of OTOF from 5 (83.3%) of 6 ANSD subjects. The TRS data previously obtained from 2 subjects were reanalyzed. ![]() Exclusion of SNP was also double checked. We performed targeted resequencing (TRS) of known deafness genes and multiphasic bioinformatics analyses of the data that ensured detection of capture failure and structural variations. Therefore, identifying the causative gene of ANSD, especially OTOF, is an important issue to rehabilitate these patients.Six sporadic ANSD subjects without anatomical abnormality of the cochlear nerve, including the 4 subjects that were previously reported to be without detectable OTOF mutation, were included. The results of timely cochlear implantation for OTOF-related ANSD (DFNB9) have been reported to be good. ANSD has a heterogeneous etiology, including genetic factors the response to cochlear implantation significantly varies depending on the etiology. Auditory neuropathy spectrum disorder (ANSD) is a sensorineural hearing disorder caused by dysfunction of auditory neural conduction. ![]()
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