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


METHODS
Systematic review.


METHODS
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.


METHODS
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%.


CONCLUSIONS
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.
Department of Otorhinolaryngology - Head and Neck Surgery, University Medical Center Utrecht, Utrecht, The Netherlands.|Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
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http://orcid.org/0000-0002-0630-2582
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Verheij
Department of Otorhinolaryngology - Head and Neck Surgery, University Medical Center Utrecht, Utrecht, The Netherlands.|Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
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Derks
Department of Otorhinolaryngology - Head and Neck Surgery, University Medical Center Utrecht, Utrecht, The Netherlands.|Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
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Stegeman
Department of Otorhinolaryngology - Head and Neck Surgery, University Medical Center Utrecht, Utrecht, The Netherlands.|Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
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Thomeer
D004062:DiGeorge Syndrome / Q000150:complications*; D004427:Ear Diseases / Q000453:epidemiology*; D034381:Hearing Loss / Q000453:epidemiology*; D006801:Humans; D015995:Prevalence
DiGeorge syndrome; hearing impairment; otitis media; tympanic membrane perforation; tympanostomy tube; velocardiofacial syndrome