Page 139 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Hearing loss and otolaryngological conditions
Results
Demographics
Sixty adults (25 male, 41.7%) with 22q11.2DS were included. The median
age at audiometry was 24.5 (range 16-62) years and the median age at
otolaryngologic examination was 25.0 (range 16-74) years. Mean FSIQ scores,
available for 57 adults, were 65.3±11.1 at median age 23.0 (range 13-57) years.
Table 2. Hearing loss in 60 adults with 22q11.2 deletion syndrome
Prevalence of hearing loss number % 95% CI
Hearing loss,
≥
1 ear
a
Hearing loss, better-hearing ear a
limited to high-frequencies (2)
Mild (2a)
Moderate (2b)
Severe (2c)
Corrigible with hearing aids (3)
Mild (3a)
Moderate (3b)
Severe (3c)
47
39
25
16
7
2
14
12
1
1
78.3
65.0
41.7
26.7
11.7
4.3
23.3
20.0
1.7
1.7
67.9 – 88.8
52.9 – 77.1
29.2 – 54.1
15.5 – 37.9
3.5 – 19.8
0.0 – 7.9
12.6 – 34.0
9.9 – 30.1
0.0 – 4.9
0.0 – 4.9
4
Laterality of hearing loss
Bilateral, symmetrical
Bilateral, asymmetrical
Unilateral
24
15
8
40.0
25.0
13.3
27.6 – 52.4
14.0 – 36.0
4.7 – 21.9
Type of hearing loss b
Sensorineural
Conductive
Mixed
Undefined c
14
5
2
18
35.9
12.8
5.1
46.2
20.8 – 51.0
2.3 – 23.3
0.0 – 12.1
30.5 – 61.8
Audiometric configuration
Flat
High-frequency steeply sloping
High-frequency gently sloping
Mid-frequency n-shaped
Low-frequency ascending
27
14
11
7
1
45.0
23.3
18.3
11.7
1.7
32.4 – 57.6
12.6 – 34.0
8.5 – 28.1
3.5 – 19.8
0.0 – 4.9
a severity according to the Muenster classification.12
b Proportions of a total of 39 adults with hearing loss of the better-hearing ear.
c
Hearing loss limited to the high-frequencies could often not be classified due to missing bone
conduction thresholds at 6 and 8 kHz.
CI=confidence interval.
Audiometry
Table 2 shows data on audiological assessments. Hearing loss in at least
one ear was found in 47 adults (78.3%) of whom 8 had unilateral hearing
loss. Of the better-hearing ear, 39 adults (65.0%) showed hearing loss that
was mostly limited to the high-frequencies (n=25, 41.7%). In 14 adults
(23.3%) more severe hearing loss was found that also included loss at the
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