High-frequency sensorineural hearing loss in children
Kaalan Johnson1, Meredith Tabangin2, Jareen Meinzen-Derr2,3
1Department of Otolaryngology-Head and Neck Surgery, University of Washington School of Medicine and Seattle Children's Hospital, Seattle, Washington, U.S.A.
Insights
High-frequency sensorineural hearing loss (HFSNHL) affects 7.6% of pediatric patients. Genetic testing is recommended as the initial diagnostic step due to its cost-effectiveness compared to imaging.
Area of Science:
- Pediatric Audiology
- Genetics in Hearing Loss
- Diagnostic Algorithms
Background:
- Sensorineural hearing loss (SNHL) is a common condition in children.
- High-frequency sensorineural hearing loss (HFSNHL) presents unique diagnostic challenges.
- Understanding the prevalence and characteristics of HFSNHL is crucial for early intervention.
Purpose of the Study:
- To determine the prevalence of HFSNHL in a pediatric hearing loss population.
- To establish a diagnostic algorithm for identifying and managing HFSNHL.
- To compare the diagnostic yield of genetic testing versus imaging in SNHL patients.
Main Methods:
- Retrospective case series of 2,867 patients diagnosed with SNHL from 1981 to 2010.
- Patients were categorized into flat SNHL and HFSNHL based on audiometric profiles.
- Data on imaging, genetic testing, age at diagnosis, laterality, and risk factors were collected and compared.
Main Results:
- HFSNHL was identified in 7.6% of the study population.
- HFSNHL patients were diagnosed at a significantly older age (8.3 vs. 6.1 years) and had a higher proportion of unilateral loss.
- Genetic testing and imaging showed similar diagnostic utility, but imaging yielded higher results in flat SNHL cases.
Conclusions:
- Genetic testing offers comparable positive predictive value to imaging for SNHL diagnosis.
- Genetic testing is recommended as the initial diagnostic approach due to cost-effectiveness.
- Further research is needed to evaluate the benefit of multigene diagnostic platforms for pediatric HFSNHL.
Objectives/Hypothesis:
Determine the prevalence of high-frequency sensorineural hearing loss (HFSNHL) in our hearing loss population and a diagnostic algorithm for these patients.
Study Design:
Retrospective case series.
Methods:
We identified patients diagnosed with sensorineural hearing loss (SNHL) at our pediatric tertiary care institution from 1981 to 2010. Based on audiometric profiles, these patients were subdivided into those with a flat SNHL configuration and those with HFSNHL. Imaging and genetic testing data and data regarding age at diagnosis, laterality, and risk factors were obtained for both groups. Comparisons were then made between the two groups.
Results:
Of 2,867 patients included in the study, 7.6% had HFSNHL. Age at diagnosis was significantly higher in HFSNHL patients (8.3 years vs. 6.1 years; P < .0001). These patients also had a significantly higher proportion of unilateral versus bilateral loss (49.1% vs. 26.1%; P < .0001); unilateral losses were also less severe. Genetic testing showed no significant difference between groups in the proportion of patients tested or in those who tested positive. Similarly, imaging data revealed no difference in the proportion of patients tested in the two groups; however, overall diagnostic yield was significantly higher in flat SNHL patients (29.5% vs.17.3; P = .02).
Conclusions:
The positive predictive value of simple genetic testing is similar to that of imaging studies. However, given cost differences between genetic testing and imaging, it is prudent to perform genetic testing as the initial diagnostic test. Determination of whether high-throughput, multigene diagnostic platforms offer an added benefit in the evaluation of children requires further study.
Level Of Evidence:
4. Laryngoscope, 126:1236-1240, 2016.
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