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Updated: Aug 9, 2025
Neuro-rehabilitation Approach for Sudden Sensorineural Hearing Loss
Published on: January 25, 2016
Targeted Next-Generation Sequencing in Children With Bilateral Sensorineural Hearing Loss: Diagnostic Yield and
An Boudewyns, Jenneke van den Ende1, Nils Peeters1
1Department of Medical Genetics, Antwerp University Hospital and University of Antwerp.
Objective:
To investigate the diagnostic yield of targeted next-generation sequencing using hearing loss panels and to identify patient-related factors that are associated with a definite genetic cause.
Study Design:
Retrospective chart review.
Setting:
Tertiary referral center.
Patients:
Children with congenital or late-onset, bilateral sensorineural hearing loss.
Interventions:
Diagnostic.
Main Outcome Measures:
The number of patients with a definite genetic diagnosis.
Results:
We report on 238 patients with hearing loss: 130 were male and 108 were female. About 55% had congenital hearing loss. A genetic cause was identified in 94 of the patients (39.5%), with 72.3% of these showing nonsyndromic and 27.6% showing syndromic hearing loss. The diagnostic yield was highest among North African patients (66.7%). A multiple linear regression model shows that profound hearing loss, family history of hearing loss, congenital hearing loss, and North African ethnicity are significantly related to identifying a genetic cause.
Conclusions:
Targeted next-generation sequencing using a panel of hearing loss genes identified a genetic diagnosis in almost 40% of children with bilateral sensorineural hearing loss. We describe the predictors of a genetic diagnosis, and this information may be used during genetic counseling.
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