TABLE 2.
Comparison between TSC patients with and without epilepsy
|
Epilepsy N = 183 (72.3%) |
No Epilepsy N = 70 (27.7%) |
p‐value | |
|---|---|---|---|
| Median age, y (IQR) | 35.00 (26–46) | 45.00 (29.75–54.25) | 0.007 |
| Level of education, median years of schooling (IQR) | 9.00 (8–13) | 13.00 (9.5–13) | <0.001 |
| Genetic analysis, n (%) | |||
| TSC1 | 48 (26.2) | 26 (37.1) | 0.018 |
| TSC2 | 109 (59.6) | 29 (41.4) | |
| NMI | 12 (6.5) | 11 (15.7) | |
| NA | 14 (7.7) | 4 (5.7) | |
| Familial cases, n (%) | 45 (24.6) | 24 (34.3) | 0.282 |
| Cognitive level, n (%) | |||
| Normal IQ | 65 (35.5) | 62 (88.6) | <0.001 |
| BIF | 16 (8.7) | 4 (5.7) | |
| Mild ID | 18 (9.8) | 3 (4.3) | |
| Moderate ID | 22 (12.0) | 0 | |
| Severe ID | 52(28.4) | 0 | |
| ID not otherwise specified | 4 (2.2) | 0 | |
| NA | 6 (3.3) | 1 (1.4) | |
| Median IQ (IQR) | |||
| Full Scale IQ | 69.00 (47.75–82.75) | 93.00 (73–109) | <0.001 |
| Verbal IQ | 68.00 (53–83.5) | 88.50 (69.75–104.75) | 0.009 |
| Performance IQ | 69.50 (52.5–87) | 100.00 (72.75–112.25) | 0.001 |
| Cortical tubers, n (%) | |||
| Yes | 179 (97.8) | 63 (90.0) | <0.001 |
| Subependymal nodules, n (%) | |||
| Yes | 152 (83.1) | 44 (62.9) | <0.001 |
| Psychiatric disorders, n (%) | |||
| Yes | 95 (51.9) | 16 (22.9) | 0.001 |
| Psychiatric disorders, n (%) | N = 95 | N = 16 | |
|---|---|---|---|
| ASD | 37 (38.9) | 0 | 0.001 |
| Anxiety disorders | 17 (17.9) | 9 (56.3) | |
| Behavioural difficulties | 15 (15.8) | 1 (6.2) | |
| Depressive/bipolar disorders | 6 (6.3) | 2 (12.5) | |
| Schizofrenia spectrum and other psychotic disorders | 7 (7.4) | 0 | |
| Anxiety and depressive disorders | 4 (4.2) | 2 (12.5) | |
| ADHD | 4 (4.2) | 0 | |
| Personality disorders | 2 (2.1) | 1 (6.2) | |
| Conversion disorder | 2 (2.1) | 0 | |
| Eating disorder | 0 | 1 (6.2) | |
| Alcohol use disorder | 1 (1.1) | 0 |
Abbreviations: ADHD, attention deficit hyperactivity disorder; ASD, autism spectrum disorder; BIF, borderline intelligence functioning; ID, intellectual disability; IQ, intelligence quotient; IQR, interquartile range; NA, not available; NMI, no mutation identified.