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

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.