Hearing loss and history of otolaryngological conditions in adults with microdeletion 22q11.2
Previous studies have shown that the 22q11.2 microdeletion, associated with 22q11.2 deletion syndrome (22q11.2DS), conveys an increased risk of chronic otitis media, and hearing loss at young age. This study reports on hearing loss and history of otolaryngological conditions in adults with 22q11.2DS...
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| Veröffentlicht in: | American journal of medical genetics. Part A 2024-03, Vol.194 (3), p.e63456-n/a |
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| creator | Scheibler, Emma N. M. M. Widdershoven, Josine C. C. Barneveld, Denise C. P. B. M. Schröder, Nina Eeghen, Agnies M. Amelsvoort, Thérèse A. M. J. Boot, Erik |
| description | Previous studies have shown that the 22q11.2 microdeletion, associated with 22q11.2 deletion syndrome (22q11.2DS), conveys an increased risk of chronic otitis media, and hearing loss at young age. This study reports on hearing loss and history of otolaryngological conditions in adults with 22q11.2DS. We conducted a retrospective study of 60 adults with 22q11.2DS (41.7% male) at median age 25 (range 16–74) years who had visited an otolaryngologist and audiologist for routine assessment at a 22q11.2 expert center. Demographic, genetic, audiometric, and otolaryngological data were systematically extracted from the medical files. Regression analysis was used to evaluate the effect of age, sex, full‐scale intelligence quotient, and history of chronic otitis media on the severity of hearing loss. Hearing loss, mostly high‐frequency sensorineural, was found in 78.3% of adults. Higher age and history of chronic otitis media were associated with more severe hearing loss. Otolaryngological conditions with possible treatment implications included chronic otitis media (56.7%), globus pharyngeus (18.3%), balance problems (16.7%), and obstructive sleep apnea (8.3%). The results suggest that in 22q11.2DS, high‐frequency hearing loss appears to be common from a young adult age, and often unrecognized. Therefore, we recommend periodic audiometric screening in all adults, including high‐frequency ranges. |
| doi_str_mv | 10.1002/ajmg.a.63456 |
| format | Article |
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M. M. ; Widdershoven, Josine C. C. ; Barneveld, Denise C. P. B. M. ; Schröder, Nina ; Eeghen, Agnies M. ; Amelsvoort, Thérèse A. M. J. ; Boot, Erik</creator><creatorcontrib>Scheibler, Emma N. M. M. ; Widdershoven, Josine C. C. ; Barneveld, Denise C. P. B. M. ; Schröder, Nina ; Eeghen, Agnies M. ; Amelsvoort, Thérèse A. M. J. ; Boot, Erik</creatorcontrib><description>Previous studies have shown that the 22q11.2 microdeletion, associated with 22q11.2 deletion syndrome (22q11.2DS), conveys an increased risk of chronic otitis media, and hearing loss at young age. This study reports on hearing loss and history of otolaryngological conditions in adults with 22q11.2DS. We conducted a retrospective study of 60 adults with 22q11.2DS (41.7% male) at median age 25 (range 16–74) years who had visited an otolaryngologist and audiologist for routine assessment at a 22q11.2 expert center. Demographic, genetic, audiometric, and otolaryngological data were systematically extracted from the medical files. Regression analysis was used to evaluate the effect of age, sex, full‐scale intelligence quotient, and history of chronic otitis media on the severity of hearing loss. Hearing loss, mostly high‐frequency sensorineural, was found in 78.3% of adults. Higher age and history of chronic otitis media were associated with more severe hearing loss. Otolaryngological conditions with possible treatment implications included chronic otitis media (56.7%), globus pharyngeus (18.3%), balance problems (16.7%), and obstructive sleep apnea (8.3%). The results suggest that in 22q11.2DS, high‐frequency hearing loss appears to be common from a young adult age, and often unrecognized. Therefore, we recommend periodic audiometric screening in all adults, including high‐frequency ranges.</description><identifier>ISSN: 1552-4825</identifier><identifier>ISSN: 1552-4833</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.63456</identifier><identifier>PMID: 37916923</identifier><language>eng</language><publisher>Hoboken, USA: John Wiley & Sons, Inc</publisher><subject>Adolescent ; Adult ; Age ; Aged ; Apnea ; audiometry ; Deafness ; DiGeorge Syndrome - complications ; DiGeorge Syndrome - diagnosis ; DiGeorge Syndrome - genetics ; Ear ; Ear diseases ; Female ; Hearing loss ; Hearing Loss - complications ; Hearing Loss - diagnosis ; Hearing Loss - genetics ; Humans ; Male ; microdeletion 22q11.2 ; Middle Aged ; Otitis media ; Otitis Media - complications ; Otitis Media - genetics ; otolaryngology ; Retrospective Studies ; Sleep disorders ; Young Adult</subject><ispartof>American journal of medical genetics. 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M. M.</creatorcontrib><creatorcontrib>Widdershoven, Josine C. C.</creatorcontrib><creatorcontrib>Barneveld, Denise C. P. B. M.</creatorcontrib><creatorcontrib>Schröder, Nina</creatorcontrib><creatorcontrib>Eeghen, Agnies M.</creatorcontrib><creatorcontrib>Amelsvoort, Thérèse A. M. J.</creatorcontrib><creatorcontrib>Boot, Erik</creatorcontrib><title>Hearing loss and history of otolaryngological conditions in adults with microdeletion 22q11.2</title><title>American journal of medical genetics. Part A</title><addtitle>Am J Med Genet A</addtitle><description>Previous studies have shown that the 22q11.2 microdeletion, associated with 22q11.2 deletion syndrome (22q11.2DS), conveys an increased risk of chronic otitis media, and hearing loss at young age. This study reports on hearing loss and history of otolaryngological conditions in adults with 22q11.2DS. We conducted a retrospective study of 60 adults with 22q11.2DS (41.7% male) at median age 25 (range 16–74) years who had visited an otolaryngologist and audiologist for routine assessment at a 22q11.2 expert center. Demographic, genetic, audiometric, and otolaryngological data were systematically extracted from the medical files. Regression analysis was used to evaluate the effect of age, sex, full‐scale intelligence quotient, and history of chronic otitis media on the severity of hearing loss. Hearing loss, mostly high‐frequency sensorineural, was found in 78.3% of adults. Higher age and history of chronic otitis media were associated with more severe hearing loss. Otolaryngological conditions with possible treatment implications included chronic otitis media (56.7%), globus pharyngeus (18.3%), balance problems (16.7%), and obstructive sleep apnea (8.3%). The results suggest that in 22q11.2DS, high‐frequency hearing loss appears to be common from a young adult age, and often unrecognized. 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Part A</jtitle><addtitle>Am J Med Genet A</addtitle><date>2024-03</date><risdate>2024</risdate><volume>194</volume><issue>3</issue><spage>e63456</spage><epage>n/a</epage><pages>e63456-n/a</pages><issn>1552-4825</issn><issn>1552-4833</issn><eissn>1552-4833</eissn><abstract>Previous studies have shown that the 22q11.2 microdeletion, associated with 22q11.2 deletion syndrome (22q11.2DS), conveys an increased risk of chronic otitis media, and hearing loss at young age. This study reports on hearing loss and history of otolaryngological conditions in adults with 22q11.2DS. We conducted a retrospective study of 60 adults with 22q11.2DS (41.7% male) at median age 25 (range 16–74) years who had visited an otolaryngologist and audiologist for routine assessment at a 22q11.2 expert center. Demographic, genetic, audiometric, and otolaryngological data were systematically extracted from the medical files. Regression analysis was used to evaluate the effect of age, sex, full‐scale intelligence quotient, and history of chronic otitis media on the severity of hearing loss. Hearing loss, mostly high‐frequency sensorineural, was found in 78.3% of adults. Higher age and history of chronic otitis media were associated with more severe hearing loss. Otolaryngological conditions with possible treatment implications included chronic otitis media (56.7%), globus pharyngeus (18.3%), balance problems (16.7%), and obstructive sleep apnea (8.3%). The results suggest that in 22q11.2DS, high‐frequency hearing loss appears to be common from a young adult age, and often unrecognized. 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| subjects | Adolescent Adult Age Aged Apnea audiometry Deafness DiGeorge Syndrome - complications DiGeorge Syndrome - diagnosis DiGeorge Syndrome - genetics Ear Ear diseases Female Hearing loss Hearing Loss - complications Hearing Loss - diagnosis Hearing Loss - genetics Humans Male microdeletion 22q11.2 Middle Aged Otitis media Otitis Media - complications Otitis Media - genetics otolaryngology Retrospective Studies Sleep disorders Young Adult |
| title | Hearing loss and history of otolaryngological conditions in adults with microdeletion 22q11.2 |
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