Page 141 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Hearing loss and otolaryngological conditions
peak occurring at a negative middle ear pressure (type C), 3 (12.5%) had
abnormally high admittance with normal tympanometric pressure (type Ad),
2 (8.3%) had abnormally low admittance with no discernable peak (type B),
and 1 (4.2%) had abnormally low admittance with normal tympanometric
pressure (type As).
Otolaryngological conditions and treatments
The majority of the study sample had history of one or more otolaryngological
conditions (Table 3). Chronic/recurrent otitis media was reported most
often (n=34, 56.7%), followed by hearing loss (n=19, 31.7%), globus
pharyngeus (n=11, 18.3%), balance problems (n=10, 16.7%), swallowing
difficulties (n=6, 10.0), obstructive sleep apnea (OSA, n=5, 8.3%), and nasal
regurgitation (n=5, 8.3%).
4
Table 3. Lifetime history of otolaryngological conditions and treatments in 60 adults
with 22q11.2 deletion syndrome
Conditions Number % 95% CI
Chronic/recurrent otitis media
Hearing loss
Globus pharyngeus
Balance problems
Swallowing difficulties
Obstructive sleep apnea
Nasal regurgitation
34
19
11
10
6
5
5
56.7
31.7
18.3
16.7
10.0
8.3
8.3
44.1 – 69.2
19.9 – 43.4
8.5 – 28.1
7.2 – 26.1
2.4 – 17.6
1.3 – 15.3
1.3 – 15.3
Treatments Speech-language therapy a
Speech
Feeding/swallowing
Indication not specified
ENT-surgery
Ear tube placement
Pharyngoplasty
Tonsillectomy
Tympanoplasty/myringoplasty
Palatoplasty
Adenotomy
Nose/septum surgery
Ear reconstruction surgery
Laryngeal web resection
Tracheotomy and vocal cord surgery
Mastoidectomy
Hearing aid
Bilateral
Unilateral
Number 47
40
7
7
43
23
17
9
9
7
6
2
2
1
1
1
5
4
1
% 95% CI
67.9 – 88.8
54.7 – 78.6
3.5 – 19.8
3.5 – 19.8
60.3 – 83.1
26.0 – 50.6
16.9 – 39.7
6.0 – 24.0
6.0 – 24.0
3.5 – 19.8
2.4 – 17.6
0.0 – 7.9
0.0 – 7.9
0.0 – 4.9
0.0 – 4.9
0.0 – 4.9
1.3 – 15.3
0.3 – 13.0
0.0 – 4.9
78.3
66.7
11.7
11.7
71.7
38.3
28.3
15.0
15.0
11.7
10.0
3.3
3.3
1.7
1.7
1.7
8.3
6.7
1.7
a Seven adults with 22q11.2DS received speech-language therapy for both speech and feeding/
swallowing issues. ENT=ear-nose-throat, CI=confidence interval.
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