TY - JOUR
T1 - Hearing loss and history of otolaryngological conditions in adults with microdeletion 22q11.2
AU - von Scheibler, Emma N.M.M.
AU - Widdershoven, Josine C.C.
AU - van Barneveld, Denise C.P.B.M.
AU - Schröder, Nina
AU - van Eeghen, Agnies M.
AU - van Amelsvoort, Thérèse A.M.J.
AU - Boot, Erik
N1 - Funding Information:
This work was supported financially by Stichting Wetenschappelijk Onderzoek, 's Heeren Loo (#2210100). The funder had no role in the design and conduct of the study, or approval of the manuscript.
Publisher Copyright:
© 2023 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
PY - 2024/3
Y1 - 2024/3
N2 - 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.
AB - 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.
KW - audiometry
KW - hearing loss
KW - microdeletion 22q11.2
KW - otolaryngology
U2 - 10.1002/ajmg.a.63456
DO - 10.1002/ajmg.a.63456
M3 - Article
SN - 1552-4825
VL - 194
JO - American Journal of Medical Genetics Part A
JF - American Journal of Medical Genetics Part A
IS - 3
ER -