Is auditory neuropathy an appropriate term? A systematic literature review on its aetiology and pathogenesis

To clarify the aetio-pathogenesis of Auditory Neuropathy Spectrum Disorder (ANSD), a total of 845 papers were divided into four categories: Review, Audiology, Treatment and Aetiology. Aetiology was the topic analysed categorising papers as: Genetics, Histopathology, Imaging and Medical diseases. Isolated ANs were in relation to Otoferlin, Pejvakin and DIAPH3 deficiency, and the syndromes were mainly Charcot Marie Tooth, Friedreich Ataxia, mitochondrial disorders and those associated with optic neuropathies. In histopathology papers, important information was available from analyses on human premature newborns and on some syndromic neuropathies. From cochlear dysmorphism to cerebral tumours associated with ANs, these are described in what is identified as the Imaging area. Finally, the prevalent clinical pathology was bilirubinopathy, followed by diabetes. In conclusion, AN/ANSDs do not refer to a clear pathological condition, but to an instrumental pattern without any evidence of auditory nerve involvement, except in a few conditions. The terms AN/ANSD are misleading and should be avoided, including terms such as “synaptopathy” or “dis-synchrony”.