Table 1 Sociodemographic and clinical characteristics of participants (n = 121)

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)