Genetic variants in the peripheral auditory system significantly affect adult cochlear implant performance

A. Eliot Shearer; Robert W Eppsteiner; Kathy Frees; Viral Tejani; Christina M Sloan-Heggen; Carolyn Brown; Paul Abbas; Camille Dunn; Marlan R Hansen; Bruce J Gantz; Richard J.H Smith

doi:10.1016/j.heares.2017.02.008

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Genetic variants in the peripheral auditory system significantly affect adult cochlear implant performance

Journal article

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Genetic variants in the peripheral auditory system significantly affect adult cochlear implant performance

A. Eliot Shearer, Robert W Eppsteiner, Kathy Frees, Viral Tejani, Christina M Sloan-Heggen, Carolyn Brown, Paul Abbas, Camille Dunn, Marlan R Hansen, Bruce J Gantz, …

Hearing research, Vol.348, pp.138-142

05/2017

DOI: 10.1016/j.heares.2017.02.008

PMCID: PMC5527292

PMID: 28213135

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Abstract

Cochlear implantation is an effective habilitation modality for adults with significant hearing loss. However, post-implant performance is variable. A portion of this variance in outcome can be attributed to clinical factors. Recent physiological studies suggest that the health of the spiral ganglion also impacts post-operative cochlear implant outcomes. The goal of this study was to determine whether genetic factors affecting spiral ganglion neurons may be associated with cochlear implant performance. Adults with post-lingual deafness who underwent cochlear implantation at the University of Iowa were studied. Pre-implantation evaluation included comprehensive genetic testing for genetic diagnosis. A novel score of genetic variants affecting genes with functional effects in the spiral ganglion was calculated. A Z-scored average of up to three post-operative speech perception tests (CNC, HINT, and AzBio) was used to assess outcome. Genetically determined spiral ganglion health affects cochlear implant outcomes, and when considered in conjunction with clinically determined etiology of deafness, accounts for 18.3% of the variance in postoperative speech recognition outcomes. Cochlear implant recipients with deleterious genetic variants that affect the cochlear sensory organ perform significantly better on tests of speech perception than recipients with deleterious genetic variants that affect the spiral ganglion. Etiological diagnosis of deafness including genetic testing is the single largest predictor of postoperative speech outcomes in adult cochlear implant recipients. A detailed understanding of the genetic underpinning of hearing loss will better inform pre-implant counseling. The method presented here should serve as a guide for further research into the molecular physiology of the peripheral auditory system and cochlear implants. •Cochlear implant (CI) outcomes are variable.•We hypothesize that the health of the neural component of the peripheral auditory system is an important factor in CI outcomes.•We show that adult CI users with deleterious mutations that affect the spiral ganglion perform significantly worse on speech recognition testing.•These results may guide pre-operative counseling for adult CI candidates.

Cochlear implant

Deafness

Genetics

Genomics

Details

Title: Subtitle: Genetic variants in the peripheral auditory system significantly affect adult cochlear implant performance
Creators: A. Eliot Shearer - Department of Otolaryngology—Head & Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, USA
Robert W Eppsteiner - Department of Otolaryngology—Head & Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, USA
Kathy Frees - Department of Otolaryngology—Head & Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, USA
Viral Tejani - Department of Otolaryngology—Head & Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, USA
Christina M Sloan-Heggen - Department of Otolaryngology—Head & Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, USA
Carolyn Brown - Department of Otolaryngology—Head & Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, USA
Paul Abbas - Department of Otolaryngology—Head & Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, USA
Camille Dunn - Department of Otolaryngology—Head & Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, USA
Marlan R Hansen - Department of Otolaryngology—Head & Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, USA
Bruce J Gantz - Department of Otolaryngology—Head & Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, USA
Richard J.H Smith - Department of Otolaryngology—Head & Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, USA
Resource Type: Journal article
Publication Details: Hearing research, Vol.348, pp.138-142
DOI: 10.1016/j.heares.2017.02.008
PMID: 28213135
PMCID: PMC5527292
NLM abbreviation: Hear Res
ISSN: 0378-5955
eISSN: 1878-5891
Publisher: Elsevier B.V
Grant note: DOI: 10.13039/100000055, name: NIDCD, award: DC003544, DC002842, DC012049, P50 DC00242
Language: English
Date published: 05/2017
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Communication Sciences and Disorders; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurosurgery; Otolaryngology; Internal Medicine
Record Identifier: 9984002347102771

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