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”.

Is auditory neuropathy an appropriate term? A systematic literature review on its aetiology and pathogenesis / S. Burdo, F. Di Berardino, G. Bruno. - In: ACTA OTORHINOLARYNGOLOGICA ITALICA. - ISSN 1827-675X. - 41:6(2021 Dec), pp. 496-506. [10.14639/0392-100X-N0932]

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

F. Di Berardino
Data Curation
;
2021-12

Abstract

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”.
auditory neuropathy; cochlear implants; dis-synchrony; snhl; synaptopathy
Settore MED/32 - Audiologia
Settore MED/31 - Otorinolaringoiatria
Article (author)
File in questo prodotto:
File Dimensione Formato  
932-Article Text-16172-2-10-20211221.pdf

accesso aperto

Tipologia: Publisher's version/PDF
Dimensione 214.79 kB
Formato Adobe PDF
214.79 kB Adobe PDF Visualizza/Apri
Pubblicazioni consigliate

Caricamento pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/895715
Citazioni
  • ???jsp.display-item.citation.pmc??? 0
  • Scopus ND
  • ???jsp.display-item.citation.isi??? 0
social impact