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Comprehensive diagnostic battery for evaluating sensorineural hearing loss in children
Jerry W Lin1, Naweed Chowdhury, Avni Mody
1The Bobby R. Alford Department of Otolaryngology - Head and Neck Surgery, Baylor College of Medicine and The Hearing Center at Texas Children's Hospital, Houston, Texas, USA.
Insights
A comprehensive diagnostic approach for sensorineural hearing loss (SNHL) in children is effective. Imaging and genetic testing yield the most results, while other tests identify significant health issues.
Area of Science:
- Pediatric Audiology
- Medical Genetics
- Diagnostic Imaging
Background:
- Clinical suspicion often guides diagnostic test selection for pediatric sensorineural hearing loss (SNHL).
- Published literature on testing yields may be subject to similar biases.
- Evaluating a comprehensive diagnostic battery is crucial for accurate diagnosis.
Purpose of the Study:
- To assess the diagnostic utility of a comprehensive battery of tests for children with severe to profound SNHL.
- To determine the yield of individual diagnostic tests and consultations in identifying the cause of SNHL.
Main Methods:
- Retrospective review of 270 children with severe to profound SNHL.
- Analysis of results from magnetic resonance imaging, computed tomography, renal ultrasound, electrocardiography, fluorescent treponemal antibody absorption test, connexin 26 sequencing, genetic consultation, and ophthalmologic consultation.
- Determination of the diagnostic yield for each test and consultation.
Main Results:
- Diagnostic imaging (MRI, CT) identified abnormalities in 24% and 18% of patients, respectively.
- Connexin 26 sequencing revealed mutations in 15% of cases.
- Genetic consultation identified a cause in 25% of children, while ophthalmologic consultation found abnormalities in 8%.
Conclusions:
- Diagnostic radiologic imaging is the most effective test for evaluating pediatric SNHL.
- Connexin 26 sequencing identifies a distinct patient subset compared to imaging.
- Specialty consultations, especially genetic, enhance diagnostic yield, and other tests can reveal significant comorbidities.
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.
