Table 1.
Patient characteristics
| All indications (n = 64) | Epilepsy indication (n = 28) | Renal AML indication (n = 29) | SEGA and LAM indications (n = 5) | |
|---|---|---|---|---|
| Age at start of treatment | ||||
| Mean ± SD (CI) | 20 ± 13.98 (16.5–23.5) | 11 ± 12.16 (6.6–16.1) | 27 ± 10 (22.9–30.6) | 21 ± 13.25 (4.5–37) |
| Median (min–max) | 19 (0.9–54) | 6 (09–44) | 26 (8–54) | 22 (6–37) |
| Age start treatment (grouped) | ||||
| < 6 years, n (%) | 16 (25) | 15 (54) | 1 (20) | |
| 6–17 years, n (%) | 13 (20) | 6 (21) | 6 (21) | 1 (20) |
| ≥ 18 years, n (%) | 35/(55) | 7 (25) | 23 (79) | 3 (60) |
| Months of follow up | ||||
| Mean ± SD (CI) | 37/25 (30–43) | 27/22/(18–35) | 37 ± 4.74 (26–46) | 52 ± 2 6.95 (19–85) |
| Median (min–max) | 31 (0–106) | 19 (3–84) | 38 (5–96) | 39 (25–82) |
| Intellectual disability, n (%) | 43 (67) | 22 (79) | 19 (70) | 5 (100) |
| Autism spectrum disorder, n (%) | 25 (39) | 13 (46) | 10 (35) | 2 (40) |
| Male, n (%) | 24 (37.5) | 14 (50) | 9 (31) | 2 (40) |
| Female, n (%) | 40 (62.5) | 14 (50) | 20 (69) | 3 (60) |
| Mutation | ||||
| TSC1, n (%) | 3 (5) | 2 (7) | 1 (20) | |
| TSC2, n (%) | 39 (61) | 21 (75) | 17 (58) | 2 (40) |
| No mutation identified, n (%) | 10 (15) | 4 (14) | 6 (21) | |
| Not tested/missing, n (%) | 12 (19) | 1 (4) | 6 (21) | 2 (40) |
| Renal AML, n (%) | 47 (73) | 12 (43) | 29 (100) | 5 (100) |
| SEGA lesions, n (%) | 17 (27) | 7 (25) | 5 (17) | 5 (100) |
| Epilepsy, n (%) | 45 (70) | 28 (100) | 14 (48) | 4 (40) |
| Lung manifestations, n (%) | 6 (9) | 1 (4) | 6 (21) | 2 (40) |
| Facial angiofibroma, n (%) | 47 (73) | 15 (54) | 27 (93) | 2 (40) |