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Neuro-rehabilitation Approach for Sudden Sensorineural Hearing Loss
09:44

Neuro-rehabilitation Approach for Sudden Sensorineural Hearing Loss

Published on: January 25, 2016

19.3K

Full etiologic spectrum of pediatric severe to profound hearing loss of consecutive 119 cases

Young Seok Kim1,2, Yoonjoong Kim1,2, Hyoung Won Jeon1,2

  • 1Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Hospital, Seoul, South Korea.

Scientific Reports
|July 19, 2022
PubMed

Insights

Combining advanced genetic testing with internal auditory canal MRI significantly improves the diagnosis of pediatric severe-to-profound sensorineural hearing loss (SP-SNHL). This integrated approach identifies the cause of hearing loss in over 65% of children, guiding auditory rehabilitation.

Area of Science:

  • Otolaryngology
  • Genetics
  • Pediatric Medicine
  • Radiology

Background:

  • Accurate diagnosis of severe-to-profound sensorineural hearing loss (SP-SNHL) in children is crucial for effective auditory rehabilitation.
  • Previous diagnostic approaches may not fully elucidate the complex etiologies of pediatric SP-SNHL.

Purpose of the Study:

  • To update the etiologic spectrum of pediatric SP-SNHL by integrating advanced genetic testing with internal auditory canal MRI (IAC-MRI).
  • To assess the diagnostic yield of combining these state-of-the-art methodologies.

Main Methods:

  • Prospective recruitment of 119 pediatric cochlear implant recipients (<15 years) with SP-SNHL from May 2013 to September 2020.
  • Comprehensive genetic testing, including exome sequencing, and IAC-MRI were performed for etiologic diagnosis.
  • Results were interpreted using ACMG/AMP guidelines by an experienced neuroradiologist.

Main Results:

  • The combined approach determined the etiology in 65.5% (78/119) of the cohort.
  • Excluding either genetic testing or IAC-MRI would have reduced the diagnostic rate by at least 21.8%.
  • Cochlear nerve deficiency (20 cases) was the leading cause, followed by DFNB4 (18), DFNB1 (10), DFNB9 (10), and congenital CMV infection (8).

Conclusions:

  • Simultaneous application of advanced genetic tests and IAC-MRI is essential for comprehensive etiologic diagnosis in pediatric SP-SNHL.
  • Careful examination of auditory nerve and central nervous system lesions on MRI, coupled with genetic analysis, can identify the cause of deafness in over 65% of cases.

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