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

BACKGROUND In the United States and other developed countries, approximately one to two children per 1,000 have moderate to profound bilateral sensorineural hearing loss (SNHL). 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. 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. The practitioner is then faced with a plethora of diagnostic options to determine the etiology of the SNHL. In addition to a complete history, physical examination, and audiometric testing, the evaluation of bilateral pediatric SNHL has typically included a comprehensive battery of laboratory tests, radiologic studies, electrocardiogram (ECG), and more recently, genetic testing, as well as ophthalmology evaluation and referral to a clinical geneticist. The necessity of exhaustive testing remains controversial, and recent studies have demonstrated that a sequential diagnostic algorithm is sensitive and clearly more cost-effective than a comprehensive testing approach.