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A Practical Approach to Genetic Testing for Pediatric Hearing Loss

  • Hearing Loss in Children (D Horn and H Ou, Section Editors)
  • Published:
Current Otorhinolaryngology Reports Aims and scope Submit manuscript

Abstract

Purpose of Review

Our goal is to provide a practical approach to the genetic evaluation of children with sensorineural hearing loss for use by practicing clinicians. We present the most recent research in the field followed by our recommended diagnostic algorithm incorporating genetic testing. We then provide case examples of commonly encountered patient presentations as further guidance.

Recent Findings

Genetic testing has the highest diagnostic yield of any single test in the evaluation of children with congenital bilateral severe-to-profound hearing loss. For unilateral or asymmetric hearing loss, imaging is typically more informative initially than genetic testing. Recent data show that syndromic forms of hearing loss are more common than previously appreciated.

Summary

A thorough and systematic evaluation of children with hearing loss that incorporates genetic testing leads to earlier diagnosis and treatment. This in turn leads to improved speech and language outcomes for children with hearing loss.

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Funding

Dr. Kenna receives support from NIDCD DC015052.

Author information

Authors and Affiliations

  1. Department of Otolaryngology & Communication Enhancement, Boston Children’s Hospital, Boston, MA, USA

    A. Eliot Shearer & Margaret Kenna

  2. Department of Otolaryngology-Head and Neck Surgery, Harvard Medical School, Boston, MA, USA

    Margaret Kenna

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  1. A. Eliot Shearer
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  2. Margaret Kenna
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Correspondence to Margaret Kenna.

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This article is part of the Topical collection on Hearing Loss in Children

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Shearer, A.E., Kenna, M. A Practical Approach to Genetic Testing for Pediatric Hearing Loss. Curr Otorhinolaryngol Rep 8, 250–258 (2020). https://doi.org/10.1007/s40136-020-00296-5

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  • DOI: https://doi.org/10.1007/s40136-020-00296-5

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