Page 147 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Hearing loss and otolaryngological conditions
design. On the one hand, data concerning the medical history may not
be complete resulting in an underestimation of some otolaryngologic
conditions. On the other hand, referral bias may have resulted in higher
prevalence rates because individuals with 22q11.2DS with a more severe
clinical presentation may be more likely to be referred to a 22q11 specialty
clinic. In addition, some adults did not have audiometric results because
of difficulties with performing the test or noncooperation, which may have
influenced results. Last, due to missing bone conduction thresholds at
higher frequencies, the type of hearing impairment could not be established
for some adults with 22q11.2DS, mainly those with loss limited to the higher
frequencies, probably resulting in an underestimation of sensorineural
hearing loss.
4
Conclusions
Hearing loss at a relatively young age, especially at the higher frequencies,
appears to be common in adults with 22q11.2DS. Higher age and history
of chronic otitis media are associated with more severe hearing loss.
Therefore, we recommend periodic audiometric screening, including high-
frequency testing (8 kHz), from early adulthood in all adults with 22q11.2DS.
Acknowledgements
AvE is member of European Reference Network ITHACA.
Funding
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, preparation of the review, or approval of the
manuscript.
Disclosures
The authors declare no conflicts of interest.
Data availability statement
The data are not publicly available due to privacy and ethical restrictions.
Any data requests can be directed to the corresponding author.
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