A Practical Approach to Genetic Testing for Pediatric Hearing Loss
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HEARING LOSS IN CHILDREN (D HORN AND H OU, SECTION EDITORS)
A Practical Approach to Genetic Testing for Pediatric Hearing Loss A. Eliot Shearer 1 & Margaret Kenna 1,2
# Springer Science+Business Media, LLC, part of Springer Nature 2020
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. Keywords Hearing loss . Deafness . Genetic testing
Introduction Permanent pediatric hearing loss is common, occurring in 1.7 in 1000 births (https://www.cdc.gov/ncbddd/hearingloss/data. html). This prevalence increases with age such that 31 in 1000 children have hearing loss by adolescence [1]. Newborn hearing screening (NBHS) has been implemented in the USA with the goal of early identification of affected children. In 2017, 3,742,608 children underwent NBHS, and 65,048 were subsequently identified to have hearing loss (https:// www.cdc.gov/ncbddd/hearingloss/ehdi-data2017.html). After the initial failure on NBHS, an otolaryngologist is often the first point of contact for a patient and their family. Otolaryngologists should therefore be familiar with a framework for evaluation of these children with the goal of early diagnosis and treatment.
This article is part of the Topical collection on Hearing Loss in Children * Margaret Kenna [email protected] 1
Department of Otolaryngology & Communication Enhancement, Boston Children’s Hospital, Boston, MA, USA
2
Department of Otolaryngology-Head and Neck Surgery, Harvard Medical School, Boston, MA, USA
Hearing loss is classified as conductive, sensorineural, mixed (a combination of the two), and more rarely auditory neuropathy spectrum disorder (ANSD). Pediatric sensorineural hearing loss (SNHL) is, in the majority of cases, due to a genetic mutation. Additionally, and much less commonly, conductive hearing loss, mixed hearing loss, or ANSD may also have a genetic cause. These mutations may disrupt any portion of the incredibly complex molecular machinery responsible for the mechanotransduction of sound into an electrical stimulus. To date there are 7524 reported deafnesscausing mutations in 120 non-synd
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