|
Age, years
|
Mean ± SD
|
31.0 ± 10.5
|
|
Range
|
18–61
|
|
Median
|
29.0
|
|
IQR
|
22–37
|
|
Sex, n (%)
|
Female
|
55 (45.5)
|
|
Male
|
66 (55.5)
|
|
Age at first manifestation of TSC, years
|
Mean ± SD
|
3.8 ± 8.1
|
|
Range
|
0–41
|
|
Median
|
0
|
|
IQR
|
0–3
|
|
Age at TSC diagnosis, years
|
Mean ± SD
|
8.9 ± 13.0
|
|
Range
|
0–53
|
|
Median
|
2.5
|
|
IQR
|
0–14.3
|
|
First TSC symptom/sign, n (%)
|
Epilepsy/seizures
|
65 (53.7)
|
|
Skin manifestation
|
24 (19.8)
|
|
Cardiac rhabdomyoma
|
7 (5.8)
|
|
Renal manifestation
|
4 (3.3)
|
|
Eye manifestation
|
3 (2.5)
|
|
Cardiac arrhythmia
|
3 (2.5)
|
|
Other
|
12 (9.9)
|
|
Genetic testing, n (%)
|
Yes, TSC1
|
25 (20.7)
|
|
Yes, TSC2
|
31 (25.6)
|
|
Yes, TSC2/PKD1 contiguous gene
|
1 (0.8)
|
|
Yes, but no mutation identified (NMI)
|
16 (13.2)
|
|
Yes, mutation not specified
|
10 (8.3)
|
|
No genetic testing
|
30 (24.8)
|
|
Unknown
|
8 (6.6)
|
|
Clinical manifestations, n (%)
|
Skin
|
116 (95.9)
|
|
Angiofibroma
|
101 (83.5)
|
|
Hypomelanotic macules
|
68 (56.2)
|
|
Shagreen patches
|
59 (48.8)
|
|
Ungual fibromas
|
13 (10.7)
|
|
Skin tags
|
4 (3.3)
|
|
Café au lait-spots
|
4 (3.3)
|
|
Epilepsy/seizures
|
93 (76.9)
|
|
Active epilepsy
|
50 (41.3)
|
|
Brain structural
|
86 (71.1)
|
|
Tuber
|
64 (52.9)
|
|
SEGA
|
51 (42.1)
|
|
Hydrocephalus
|
3 (2.5)
|
|
Kidney
|
85 (70.2)
|
|
AML
|
70 (57.9)
|
|
Heart
|
62 (51.2)
|
|
Cardiac rhabdomyoma
|
29 (24.0)
|
|
Neuropsychiatric
|
60 (49.6)
|
|
Lymphangioleiomyomatosis
|
12 (9.9)
|
|
Other
|
50 (41.3)
|
|
Number of manifestations
|
Median
|
5
|
|
Range
|
1–8
|
|
Highest school graduation certificate, n (%)
|
High school (‘Abitur/Fachabitur’)
|
29 (24.0)
|
|
Intermediate school (‘Realschulabschluss/mittlere Reife’)
|
27 (22.3)
|
|
Secondary modern school (‘Hauptschulabschluss’)
|
10 (8.3)
|
|
Still in school
|
6 (5.0)
|
|
No certificate
|
29 (24.0)
|
|
Other
|
19 (15.7)
|
|
Current occupation, n (%)
|
Employee full-time
|
35 (28.9)
|
|
Unemployment or unable to work due to TSC
|
29 (23.4)
|
|
Employee part-time
|
12 (9.9)
|
|
Unemployment or unable to work due to other illness
|
5 (4.1)
|
|
Self-employed
|
2 (1.7)
|
