Comprehensive diagnostic battery for evaluating sensorineural hearing loss in children

Abstract

Objective: Selection of diagnostic tests for children with sensorineural hearing loss (SNHL) is influenced by clinical suspicion. Testing results reported in the literature are similarly biased. We evaluate the usefulness of a comprehensive diagnostic battery for each child.

Study design: Retrospective review.

Setting: Tertiary care university hospital.

Patients: A total of 270 children referred for severe to profound SNHL between January 2002 and June 2009.

Interventions: Results of the following were reviewed: magnetic resonance imaging, computed tomography, renal ultrasound, electrocardiography, fluorescent treponemal antibody absorption test, connexin 26 sequencing, genetic consultation, and ophthalmologic consultation.

Main outcome measure: Diagnostic yield of each test was determined.

Results: Each diagnostic test or consultation was completed by at least 95% of patients for whom it was ordered. Magnetic resonance imaging revealed abnormalities explaining SNHL in 24% of patients. Computed tomography showed inner ear anomalies in 18% of patients. Biallelic connexin 26 mutations were found in 15%. Renal ultrasound found anomalies in 4% of patients. Electrocardiography found 1% of patients with prolonged QT intervals. Fluorescent treponemal antibody absorption test result was positive in 0.5%. Genetic consultation found a genetic cause for hearing loss in 25%. Ophthalmologic consultation found abnormalities associated with hearing loss in 8%.

Conclusion: Diagnostic radiologic imaging is the highest yielding test for evaluating children with SNHL. Connexin 26 sequencing identifies a nearly nonoverlapping subset of children compared with imaging. Specialty consultations, particularly from a clinical geneticist, can improve diagnostic yield. Other tests, although of lower diagnostic yield for SNHL, can identify important diseases that significantly affect patient health.

FIG. 1

The percentage of each ordered test or consultation that was completed by patients.

FIG. 2

The diagnostic yield achieved by the stepwise addition of each test or consultation is indicated. Testing began with CT temporal bone. Each additional row depicts the diagnostic yield achieved by adding the diagnostic test indicated in the row label to the cumulative testing battery consisting of tests indicated in the row labels of all rows above.