Page 142 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Chapter 4
Most adults had received speech therapy (n=47, 78.3%). Ear tube placement
was the most reported surgical intervention (n=23, 38.3%). Five adults
(8.3%) had hearing aids prescribed prior to their visit (at age 57, 55, 32, 21
and 19 years), of whom 4 (6.7%) bilateral (Table 3). The 21-year-old female,
and the excluded 39-year-old female, reported not to use the hearing aids.
Another five adults (8.3%) were advised to consider hearing aids after
audiologic examination. Treatments that were recommended after routine
examination included muscle relaxation therapy for globus (n=4, 6.7%)
and dysphagia (n=1, 1.7%), and balance exercises for benign paroxysmal
positional vertigo (n=1, 1.7%). Additional examinations were recommended
for sleep disorders (n=2, 3.3%; i.e., polysomnography) and vestibular
dysfunction (n=1, 1.7%). Five adults were advised to start medication for
otitis externa (n=2, 3.3%), rhinitis (n=2, 3.3%), and otitis media (n=1, 1.7%),
respectively. Eight adults were advised to start (n=6, 10%) or continue (n=2,
3.3%) aural toileting for ear wax. Two adults (3.3%) qualified for surgical
correction of nasal septum deviation.
Factors related to severity of hearing loss
The regression model predicting severity of hearing loss in 22q11.2DS was
significant (p=0.002, Nagelkerke=0.29). Higher age (OR=1.08, 95% CI=1.03-
1.12, Wald=11.30, p=0.001) and a history of chronic otitis media (OR=2.87,
95% CI=1.07-7.67, Wald=4.43, p=0.04), but not male sex (OR=0.65, 95%
CI=0.24-1.73, Wald=0.74, p=0.39) or FSIQ (OR=0.99, 95% CI=0.95-1.03,
Wald=0.26, p=0.61), were related to the severity of hearing loss.
Discussion
The results of this study involving a relatively young adult sample of
22q11.2DS indicate that a large proportion of adults with 22q11.2DS
have hearing loss, mostly limited to the higher frequencies, and often
unrecognized. Age and a history of chronic otitis media, but not sex or FSIQ,
were positively related to the severity of hearing loss. Lifetime history of
otolaryngologic conditions that were frequently reported included chronic
otitis media, globus pharyngeus, swallowing difficulties, balance problems
and OSA.
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