A prevalent founder mutation and genotype-phenotype VRA relations of OTOF in Japanese patients with auditory neuropathy. Matsunaga T, Mutai H, Kunishima S, Namba K, Morimoto N, Shinjo Y, Arimoto Y, Katoaka T, Shintani T, Morita N, Sugiuchi T, Masuda S, Nakano A, Taiji T, Kaga K. Auditory nerve disease and auditory neuropathy spectrum disorders. Multi-site diagnosis and management of 260 patients with auditory neuropathy/dis-synchrony (auditory neuropathy spectrum disorder). 1998 102:1161–71.īerlin CI, Hood LJ, Morlet T, Wilensky D, Li L, Mattingly KR, Taylor-Jeanfrequ J, Keats BJB, John PS, Montgomery E, Shallop JK, Russell AB, Frisch SA. Language of early- and later-identified children with hearing loss. Yoshinaga-Itano C, Sedey AN, Coulter DK, Mehl AL. Aurora: The Children’s Hospital Colorado 2008. Guidelines for identification and management of infants and young children with auditory neuropathy spectrum disorders. Starr A, Picton TW, Sininger Y, Hood LJ, Berlin CI. Auditory nerve disease of both ears revealed by auditory brainstem response, electrocochleography and otoacousitc emissions. Kaga K, Nakamura M, Shinogami M, Tsuzuku T, Yamada K, Shindo M. ANSD in newborns, infants, and children manifests differently in AN compared to in adults. Type III is true auditory neuropathy always with the presence DPOAE and absence of ABR. Type II is a development of profound hearing loss over time. In Type I, there is normalization of hearing over time. In 2016, our group at the National Tokyo Medical Center further classified ANSD into three types on the basis of finding changes in the ABRs and DPOAEs of these infants as they developed into adulthood. The major basis for the use of this term (ANSD) was the finding that in certain cases during neonate screening, ABRs could not be evoked but DPOAEs could be clearly recorded. In 2008, a comprehensive study of hearing in newborn infants by the Colorado Children’s Hospital group prompted the use of ANSD (auditory neuropathy spectrum disorder) as the proper and more inclusive term to delineate this pathology and this term has been broadly accepted later. Although the pathophysiology of this disorder as reported by each author was essentially the same, Kaga described it as “auditory nerve disease” and Starr used the term “auditory neuropathy (AN).” In 1996, a new type of bilateral hearing disorder was discovered, and its characteristics and etiology were published almost simultaneously by Kaga et al.
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