Predictor
|
Measure
|
N
|
Category
|
Mean
|
± SD
|
95% CI
|
p-value*
|
---|
Sociodemographic aspects
|
Sex
|
VAS
|
65
|
Male
|
64.2
|
19.9
|
59.2–69.1
|
0.790
|
55
|
Female
|
63.6
|
22.1
|
57.6–69.5
|
Overall score
|
65
|
Male
|
62.2
|
20.2
|
57.5–67.2
|
0.277
|
55
|
Female
|
65.5
|
19.0
|
60.3–70.6
|
Age
|
VAS
|
55
|
18–28 y
|
67.1
|
20.3
|
61.6–72.6
|
0.136
|
63
|
29–61 y
|
60.9
|
21.0
|
55.6–66.2
|
Overall score
|
55
|
18–28 y
|
64.4
|
20.6
|
58.9–70.0
|
0.666
|
53
|
29–61 y
|
62.7
|
19.0
|
57.9–67.5
|
Employment
|
VAS
|
49
|
Yes
|
70.6
|
19.7
|
64.9–76.2
|
0.001†
|
34
|
No
|
54.7
|
20.8
|
46.4–60.9
|
Overall score
|
49
|
Yes
|
71.7
|
19.9
|
66.9–76.4
|
< 0.001†
|
34
|
No
|
51.5
|
16.5
|
44.5–58.4
|
Grade of disability
|
VAS
|
38
|
0–80
|
65.0
|
17.4
|
59.2–70.7
|
0.008†
|
56
|
90–100
|
54.3
|
18.1
|
49.4–59.1
|
Overall score
|
38
|
0–80
|
66.1
|
16.5
|
60.7–71.5
|
< 0.001†
|
56
|
90–100
|
54.2
|
16.5
|
49.7–58.6
|
Clinical aspects
|
Mutation type
|
VAS
|
25
|
TSC1
|
70.3
|
18.0
|
62.9–77.8
|
0.099
|
31
|
TSC2
|
61.0
|
23.5
|
52.3–69.6
|
Overall score
|
25
|
TSC1
|
68.8
|
17.3
|
61.6–75.9
|
0.424
|
31
|
TSC2
|
63.0
|
21.4
|
55.2–70.9
|
Active epilepsy
|
VAS
|
49
|
Yes
|
56.7
|
19.4
|
51.2–62.3
|
0.003†
|
71
|
No
|
68.8
|
20.5
|
64.0–73.7
|
Overall score
|
49
|
Yes
|
52.1
|
17.7
|
47.0–57.2
|
< 0.001†
|
71
|
No
|
71.7
|
16.7
|
67.8–75.7
|
Structural brain
|
VAS
|
85
|
Yes
|
62.3
|
20.9
|
57.8–66.8
|
0.232
|
35
|
No
|
67.7
|
20.5
|
60.6–74.7
|
Overall score
|
85
|
Yes
|
60.5
|
20.1
|
56.2–64.8
|
0.007†
|
35
|
No
|
71.5
|
16.3
|
65.9–77.1
|
SEGA
|
VAS
|
50
|
Yes
|
62.0
|
22.1
|
55.7–68.3
|
0.458
|
70
|
No
|
65.2
|
20.0
|
60.5–70.0
|
Overall score
|
50
|
Yes
|
59.4
|
20.1
|
53.7–65.2
|
0.041
|
70
|
No
|
66.7
|
18.9
|
62.2–71.2
|
Neuropsychiatric
|
VAS
|
59
|
Yes
|
55.1
|
20.4
|
49.8–60.5
|
< 0.001†
|
61
|
No
|
72.3
|
17.6
|
67.8–76.9
|
Overall score
|
59
|
Yes
|
53.2
|
18.0
|
48.5–57.9
|
< 0.001†
|
61
|
No
|
73.8
|
15.4
|
69.9–77.8
|
AML
|
VAS
|
70
|
Yes
|
61.5
|
22.3
|
56.2–66.9
|
0.146
|
50
|
No
|
67.2
|
18.4
|
61.9–72.4
|
Overall score
|
70
|
Yes
|
63.6
|
20.8
|
58.6–68.5
|
0.819
|
50
|
No
|
63.9
|
18.2
|
58.7–69.0
|
Lymphangioleiomyomatosis
|
VAS
|
12
|
Yes
|
63.3
|
14.4
|
54.2–72.5
|
0.829
|
108
|
No
|
63.9
|
21.5
|
59.8–68.1
|
Overall score
|
12
|
Yes
|
70.2
|
14.9
|
60.8–79.7
|
0.256
|
108
|
No
|
63.0
|
20.0
|
59.2–66.8
|
Skin
|
VAS
|
115
|
Yes
|
63.8
|
20.9
|
59.9–67.7
|
0.822
|
5
|
No
|
66.0
|
20.7
|
40.3–91.8
|
Overall score
|
115
|
Yes
|
63.7
|
19.6
|
60.1–67.3
|
0.855
|
5
|
No
|
63.3
|
22.9
|
34.8–91.8
|
Number of affected organs
|
VAS
|
31
|
1–3
|
76.7
|
16.7
|
70.6–82.8
|
Ref
|
< 0.001†
|
72
|
4–6
|
62.2
|
19.2
|
57.7–66.7
|
0.001
|
17
|
7–8
|
47.7
|
21.6
|
36.6–58.8
|
< 0.001
|
Overall score
|
31
|
1–3
|
71.7
|
18.4
|
65.0–78.5
|
Ref
|
0.007†
|
72
|
4–6
|
62.8
|
18.9
|
58.4–67.2
|
0.026
|
17
|
7–8
|
52.9
|
20.0
|
42.6–63.2
|
0.002
|
Therapeutic aspects
|
Anti-seizure medication polytherapya
|
VAS
|
52
|
Yes
|
58.1
|
19.0
|
52.8–64.4
|
0.178
|
31
|
No
|
64.8
|
20.1
|
57.4–72.2
|
Overall score
|
52
|
Yes
|
54.9
|
17.8
|
49.9–59.8
|
0.032
|
31
|
No
|
63.5
|
18.6
|
56.6–70.3
|
Everolimus
|
VAS
|
51
|
Yes
|
59.3
|
22.0
|
53.1–65.5
|
0.063
|
69
|
No
|
67.3
|
19.4
|
62.6–71.9
|
Overall score
|
51
|
Yes
|
60.5
|
20.0
|
54.9–66.1
|
0.212
|
69
|
No
|
66.1
|
19.1
|
61.5–70.7
|
LAEP
|
VAS
|
36
|
< 35
|
76.7
|
18.0
|
70.6–82.8
|
< 0.001†
|
83
|
≥35
|
58.0
|
19.3
|
53.8–62.2
|
Overall score
|
36
|
< 35
|
80.5
|
12.7
|
76.2–84.7
|
< 0.001†
|
83
|
≥35
|
56.0
|
17.2
|
52.3–59.8
|
- AML angiomyolipoma, CI confidence interval, LAEP Liverpool Adverse Events Profile, QOLIE-31 Quality of Life in Epilepsy Inventory-31 items, ref. reference category, SD standard deviation, SEGA subependymal giant cell astrocytoma, TSC tuberous sclerosis complex, VAS visual analogue scale, y years
- aIncludes only individuals with TSC-associated epilepsy/seizures
- *Comparisons corrected for multiple testing using the Benjamini–Hochberg false-discovery rate method, † and bold type denotes a q-value of < 0.05 (false-discovery rate)