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Hearing loss in children with mitochondrial disorders

Sri Kiran Chennupati1, Jessica Levi, Patricia Loftus

  • 1St. Christopher's Hospital for Children, Division of Otolaryngology, 3601 A Street, Philadelphia, PA 19134, United States.

International Journal of Pediatric Otorhinolaryngology
|October 11, 2011
PubMed

Insights

Mitochondrial disorders in children can cause hearing loss, but it

Area of Science:

  • Pediatrics
  • Genetics
  • Audiology

Background:

  • Congenital hearing loss affects 1-5 per 1000 children, with 50% genetic causes.
  • Mitochondrial DNA mutations account for an estimated 1% of pre-lingual hearing loss.
  • Previous studies on hearing loss in mitochondrial disorders involved small patient cohorts (typically <20).

Purpose of the Study:

  • To characterize hearing loss in children with mitochondrial mutations.
  • To determine if previously reported patterns (progressive, sensorineural, high-frequency loss) are present in this patient population.

Main Methods:

  • Retrospective chart review of electronic medical records (2004-2009).
  • Identified 149 patients with mitochondrial disorders using ICD-9 codes.
  • Analyzed audiologic data from 26 patients with both mitochondrial disorders and hearing evaluations.

Main Results:

  • 15 out of 26 patients (58%) exhibited hearing loss.
  • Sensorineural hearing loss was most common (38%), followed by conductive (7.7%) and mixed (3.8%) types.
  • Hearing loss patterns were variable, including low and mid-frequency losses, and were not always progressive.

Conclusions:

  • This study provides one of the largest audiometric datasets for children with mitochondrial disorders.
  • Hearing loss in this cohort was more diverse than previously reported, including non-progressive and variable frequency losses.
  • Routine audiometric screening, including ABR and OAEs, is recommended for children with mitochondrial disorders to detect potential hearing impairments and monitor progression.
Abstract

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