Genetic testing in patients with congenital hearing loss

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  • Arai Yasuhiro
    Department of Otolaryngology, Head and Neck Surgery, Yokohama City University School of Medicine
  • Nishio Shin-Ya
    Department of Hearing Implant Sciences, Shinshu University School of Medicine
  • Oridate Nobuhiko
    Department of Otolaryngology, Head and Neck Surgery, Yokohama City University School of Medicine
  • Usami Shin-Ichi
    Department of Hearing Implant Sciences, Shinshu University School of Medicine

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Other Title
  • 先天性難聴
  • センテンセイ ナンチョウ

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Abstract

<p>In Japan, genetic testing in patients with congenital hearing loss is covered by Social Health Insurance. The screening by genetic testing is performed nationwide to identify the causes of hearing loss and to provide optimal medical treatment. The benefits of genetic testing include 1) elucidating the cause of hearing loss, 2) predicting the severity and prognosis of hearing loss and foreseeing accompanied symptoms, such as dizziness and diabetes, and 3) providing helpful information to choose treatment options, such as cochlear implantation. Between October 2012 and May 2020, we performed genetic testing in 132 patients with pre-lingual hearing loss, and the overall diagnostic rate was 41.7% (56 of 132 patients with congenital hearing loss, 47 of 119 families). Genetic testing for congenital hearing loss is a very useful tool for early decision making, particularly in case of simultaneous bilateral cochlear implantation. It is also useful in determining the timing of cochlear implant surgery in patients with progressive sensorineural hearing loss. Even post genetic diagnosis, it is important to carefully follow up the changes in hearing levels.</p>

Journal

  • Otology Japan

    Otology Japan 31 (2), 131-136, 2021

    Japan Otological Society

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