Comprehensive Diagnostic Battery for Evaluating Sensorineural Hearing Loss in Children

Hearing loss is the most common sensory disorder in the United States, with an incidence of approximately 1 per 1000 (1). Approximately 25% of the cases of neonatal sensorineural hearing loss (SNHL) are attributed to identifiable prenatal or postnatal disease or trauma (2). Two significant risk factors for congenitally acquired SNHL are perinatal infections and prematurity. Neonatal intensive care unit admission itself also portends significant risk for hearing loss (3,4). The remainder of cases of neonatal hearing loss is thought to be genetic in nature: 18% attributed to undiagnosed genetic factors, 15% to autosomal-dominant genetic mutations, 40% to autosomal-recessive genetic mutations, and 2% to sex-linked genetic mutations (5). The ability to hear during the early years of life is critical for the development of speech, language, and cognition. Prelingual deafness is particularly worrisome as it can engender many other disabilities. Early identification and intervention can prevent severe psychosocial, educational, and linguistic repercussions (6–8). The prevalence of congenital hearing loss is greater than twice that of all other diseases and syndromes routinely screened at birth combined (9). Hence, universal newborn hearing screening programs have been implemented in most states across the country. Once a child has been formally diagnosed with hearing loss and appropriate intervention has been implemented, clinical efforts are then directed toward finding the cause of hearing loss. Presently, no formal consensus exists regarding which specific diagnostic tests ought to be ordered, and therefore, the workup may vary significantly between physicians. Several studies in the literature report diagnostic yields for various tests, but these results may be biased by specific selection criteria used to determine which tests were ordered for each particular child (10–12). In this study, we attempted to avoid any bias by uniformly ordering a comprehensive diagnostic battery of tests for each child with profound to severe SNHL. Eliminating diagnostic test stratification allowed us to compare the diagnostic yields of these tests across the same population of children. In addition, the comprehensive diagnostic battery identified anomalies in other organ systems that may not have been useful for determining the cause for hearing loss but had significant effect on patient health.