Use of Laboratory Evaluation and Radiologic Imaging in the Diagnostic Evaluation of Children With Sensorineural Hearing Loss

Abstract

In the evaluation of children with unexplained SNHL, routine laboratory evaluation should be reconsidered given its low diagnostic yield. However, radiologic abnormalities of the inner ear are common. Identification of inner ear malformations has direct impact on management of these children, suggesting that all children should undergo radiologic imaging as an integral component of evaluation of SNHL.

What is the optimal workup for a child with bilateral sensorineural hearing loss?

“…1,2 Abnormal results were found in up to 23% of patients, but none of these were found to be associated with the etiology of the SNHL. 1,2 In some instances, clinical findings may suggest a particular diagnosis, which then mandates laboratory evaluation. For example, an ECG should be obtained if there is a family history of syncope.…”

“…1 Of children with severe-profound SNHL, 40% to 50% have GBJ2 mutations, and GJB2 genotyping has a diagnostic yield of 22%. 1,2 The yield is higher in children with severe-profound SNHL than in children with milder SNHL.…”

“…Some suggest all children with bilateral SNHL, including those with positive GJB2 screening, should undergo imaging, whereas others suggest only children with mild-moderate SNHL or those with severe-profound SNHL and negative genetic testing should be imaged. [1][2][3][4] A few small studies have found no association between GJB2 mutations and temporal bone abnormalities. In one study, abnormalities were identified in only one of 21 GJB2-positive children, and in another study only one of 18 had an abnormality, suggesting that imaging may not be necessary if GJB2 screening is positive.…”

“…1 SNHL can be broadly classified as hereditary, acquired, or idiopathic. Up to 35% of children with SNHL have a history suggestive of acquired environmental etiology.…”

“…Up to 35% of children with SNHL have a history suggestive of acquired environmental etiology. 1 Physical examination can reveal dysmorphic features suggestive of syndromes that are associated with SNHL. However, in the majority of children, history and physical examination alone will not reveal the cause of SNHL.…”