Clinical Predictors of Genetic Diagnostic Yield in Pediatric Sensorineural Hearing Loss: Preliminary 10-year Cohort

Sunday, October 18, 2026

8:36 AM - 8:42 AM PT

Location: 409AB

Presenting Author(s)

KB

Kanokrat Bunnag, MD

Assistant Professor, Visiting Scholar
Stanford University
Menlo Park, CA, United States
KB

Kanokrat Bunnag, MD

Assistant Professor, Visiting Scholar
Stanford University
Menlo Park, CA, United States

Co-Author(s)

Kay W. W. Chang, MD

Professor
Stanford University
Stanford, CA, United States
Kay W. W. Chang, MD

Professor
Stanford University
Stanford, CA, United States
Mai Thy T. Truong, MD

Clinical Professor
Stanford Hospital
Stanford, California, United States
Mai Thy T. Truong, MD

Clinical Professor
Stanford Hospital
Stanford, California, United States
Iram N. N. Ahmad, MD, MME

Assistant Professor
Stanford University Pediatric Otolaryngology
Palo Alto, CA, United States
Iram N. N. Ahmad, MD, MME

Assistant Professor
Stanford University Pediatric Otolaryngology
Palo Alto, CA, United States
Grace S. S. Kim, MD

Assistant Professor
Stanford University
Stanford, California, United States
Grace S. S. Kim, MD

Assistant Professor
Stanford University
Stanford, California, United States
AM

Andrea M. Miranda, BS

Clinical Research Coordinator
Stanford University, California, United States
AM

Andrea M. Miranda, BS

Clinical Research Coordinator
Stanford University, California, United States

Senior Author(s)

Alan G. G. Cheng, MD

Professor
Stanford University
Palo Alto, CA, United States
Alan G. G. Cheng, MD

Professor
Stanford University
Palo Alto, CA, United States

Disclosure(s):

Kanokrat Bunnag, MD:

faculty for this accredited education activity has no relationship(s) with ineligible companies to disclose.

Kay W. W. Chang, MD:

faculty for this accredited education activity has no relationship(s) with ineligible companies to disclose.

Alan G. G. Cheng, MD:

faculty for this accredited education activity has no relationship(s) with ineligible companies to disclose.

Introduction: Genetic testing is a cornerstone in working up pediatric sensorineural hearing loss (SNHL); however, diagnostic yield varies widely, and clinical predictors remain incompletely defined. This study evaluates clinical factors associated with genetic diagnostic yield in pediatric SNHL.

Methods: We conducted a retrospective study on SNHL patients seen at a single tertiary pediatric hospital between 2015 and 2025. Demographic, audiologic, and clinical variables were analyzed. Univariate and multivariable logistic regression analyses were performed.

Results: Among 186 children (average age 12.9 years, 53.8% male), with SNHL or mixed HL, 117 (62.9%) underwent genetic testing, with 41 receiving a genetic diagnosis (35.0%). In multivariable analysis, associated syndrome was strongly associated with positive genetic diagnosis (adjusted odds ratio [aOR], 20.86; 95% CI, 5.26–82.71; p< 0.001), and bilateral hearing loss independently increased yield (aOR, 8.35; 95% CI, 1.91–36.48; p=0.005). Among those with positive genetic tests, 43.9% were non-syndromic hearing loss with GJB2 being the most common etiology. The remaining 56.1% represented syndromic conditions, including Usher syndrome (USH2A, ADGRV1), Waardenburg syndrome (MITF), Wolfram syndrome (WFS1), Stickler syndrome (COL11A1), Alport syndrome (COL4A4), CHARGE syndrome (CHD7).
No independent associations were observed for age, sex, race, family history of hearing loss, type or severity of hearing loss, or age at diagnosis. Comprehensive multigene panel testing showed higher diagnostic yield than single-gene testing.

Conclusions: In this 10-year single-institution retrospective study, we found a high rate of patients receiving genetic testing and a modest diagnostic yield. The presence of syndromes, bilateral hearing loss, and the use of gene panels were associated with higher genetic diagnostic yield. Neither patient age nor timing of genetic testing meaningfully influenced diagnostic yield. These findings support a clinically guided approach to genetic testing in pediatric SNHL.