Prevalence of hearing loss and clinical otologic manifestations in patients with 22q11.2 deletion syndrome: A literature review

Clin Otolaryngol. 2017 Dec;42(6):1319-1328. doi: 10.1111/coa.12874. Epub 2017 Apr 9.

Abstract

Background: Hearing loss and otitis media are frequently reported in patients with 22q11.2 deletion syndrome.

Objective of review: Our objective was to review the current literature on the prevalence of hearing loss and otologic manifestations in patients with 22q11.2 deletion syndrome.

Type of review: Systematic review.

Search strategy: We conducted a systematic search in PubMed and Embase combining the term "22q11.2 deletion syndrome" and synonyms with "hearing loss" and "otologic manifestations" and synonyms.

Evaluation method: We screened title/abstract and full text of all retrieved articles on pre-defined in- and exclusion criteria. The remaining articles were assessed on risk of bias. Outcome measures included the prevalence of hearing loss and otologic manifestations such as otitis media.

Results: Our search yielded 558 unique studies of which a total of 25 articles were included for critical appraisal and data extraction. Twenty-one studies reported on hearing loss, and 21 studies on otologic manifestations. The prevalence of hearing loss varied from 6.0% to 60.3%, where in most studies conductive hearing loss was most prevalent. Rates of recurrent or chronic otitis media varied from 2.2% to 89.8%.

Conclusion: Although a very broad range in prevalences is reported in different studies, hearing loss and recurrent or chronic otitis media are frequently present in patients with 22q11.2 deletion syndrome. Regular check-ups and audiometric testing are advised in these patients.

Keywords: DiGeorge syndrome; hearing impairment; otitis media; tympanic membrane perforation; tympanostomy tube; velocardiofacial syndrome.

Publication types

  • Review
  • Systematic Review

MeSH terms

  • DiGeorge Syndrome / complications*
  • Ear Diseases / epidemiology*
  • Hearing Loss / epidemiology*
  • Humans
  • Prevalence