E Verheij1,2, L S M Derks1,2, I Stegeman1,2, H G X M Thomeer1,2. 1. Department of Otorhinolaryngology - Head and Neck Surgery, University Medical Center Utrecht, Utrecht, The Netherlands. 2. Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
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.
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.
Authors: Cynthia B Solot; Debbie Sell; Anne Mayne; Adriane L Baylis; Christina Persson; Oksana Jackson; Donna M McDonald-McGinn Journal: Am J Speech Lang Pathol Date: 2019-07-22 Impact factor: 4.018
Authors: Emma N M M von Scheibler; Emy S van der Valk Bouman; Myrthe A Nuijts; Noël J C Bauer; Tos T J M Berendschot; Pit Vermeltfoort; Levinus A Bok; Agnies M van Eeghen; Michiel L Houben; Thérèse A M J van Amelsvoort; Erik Boot; Michelle B van Egmond-Ebbeling Journal: Am J Med Genet A Date: 2021-11-12 Impact factor: 2.578
Authors: Erik Boot; Nancy J Butcher; Sean Udow; Connie Marras; Kin Y Mok; Satoshi Kaneko; Matthew J Barrett; Paolo Prontera; Brian D Berman; Mario Masellis; Boris Dufournet; Karine Nguyen; Perrine Charles; Eugénie Mutez; Teodor Danaila; Aurélia Jacquette; Olivier Colin; Sophie Drapier; Michel Borg; Ania M Fiksinski; Elfi Vergaelen; Ann Swillen; Annick Vogels; Annika Plate; Claudia Perandones; Thomas Gasser; Kristien Clerinx; Frédéric Bourdain; Kelly Mills; Nigel M Williams; Nicholas W Wood; Jan Booij; Anthony E Lang; Anne S Bassett Journal: Neurology Date: 2018-05-11 Impact factor: 9.910