Is Auditory Neuropathy an Appropriate Diagnosis if There Is No Neuropathy?

Abstract

In the initial reports of auditory neuropathy, there was ample evidence that the patients did indeed have neuropathy—a disease or disorder of the auditory nerve or other peripheral nerves. In the years that followed, the diagnosis has been applied to all cases in which the cochlear microphonic potentials or otoacoustic emissions were present and the auditory brainstem response absent, whether or not the nerve was known to be affected. At one time an argument could have been made that the lesion could be presumed to be in the auditory nerve because it was not proven that selective inner hair cell impairment even existed as a clinical entity. It has become clear, however, that mutations of the OTOF gene, and perhaps other genes, can cause a defect of inner hair cell function that is quite different from a true neuropathy. These patients differ from those with neuropathy in age of onset, severity of loss, prognosis, and often in potential for benefit from cochlear implantation. The time has come to reserve the diagnosis of auditory neuropathy for those cases in which there is evidence of a disorder of the auditory nerve.