An integrative approach for pediatric auditory neuropathy spectrum disorders: revisiting etiologies and exploring the prognostic utility of auditory steady-state response

Yin-Hung Lin,Pei-Lung Chen,Ting-Hua Yang,Tien-Chen Liu,Shu-Yu Yang,Chen-Chi Wu,Chuan-Jen Hsu,Pei-Hsuan Lin,Yi-Hsin Lin

doi:10.1038/s41598-020-66877-y

Yin-Hung Lin, Pei-Lung Chen + Show 7 more

Open Access

https://doi.org/10.1038/s41598-020-66877-y

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Abstract

Auditory neuropathy is an important entity in childhood sensorineural hearing loss. Due to diverse etiologies and clinical features, the management is often challenging. 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. 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. The most common causes of acquired and genetic auditory neuropathy were prematurity and OTOF mutations, respectively. 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). 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. In conclusion, comprehensive assessments can provide etiological clues in ~75% of the children with auditory neuropathy. Different etiologies are associated with different audiologic features, and auditory steady-state responses might serve as an objective measure for estimating behavioral thresholds.

Highlights

Auditory neuropathy is an important entity in childhood sensorineural hearing loss
We were able to obtain information regarding the cause of pediatric auditory neuropathy in ~75% (75/101) of the patients using comprehensive history-taking, genetic examinations, and imaging studies
The major factors related to auditory neuropathy were acquired factors, followed by genetic and developmental (e.g., cochlear nerve deficiency (CND)) factors

Summary

Introduction

Auditory neuropathy is an important entity in childhood sensorineural hearing loss. Due to diverse etiologies and clinical features, the management is often challenging. Given the heterogeneous etiologies and diverse audiologic features, benefits derived from hearing aids or cochlear implants (CIs) vary significantly among patients[2,10,15,16] This poses difficulties in the management of auditory neuropathy. Recent advances in molecular genetics and imaging technologies have revolutionized diagnosis, counseling for, and treatment of childhood SNHL by precisely defining the etiology and pathology[17,18] This is especially relevant for pediatric auditory neuropathy, as treatment outcomes correlate closely with the underlying etiologies[19]. To explore practical factors important for the guidance of assessment and management, we revisited etiologies and hearing profiles in a large auditory neuropathy cohort using an integrative audiologic, genetic, and imaging approach

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Conclusion