Page 134 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Chapter 4
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 otolaryngologic conditions in adults with
22q11.2DS. Therefore, 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 an 22q11.2 expert center. Demographic, genetic, audiometric, and
otolaryngologic 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. Otolaryngologic 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%). In conclusion, 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.
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