Table 1.
Clinical characteristics of the TSC Cohort
| TSC patients (n = 42) |
||
|---|---|---|
| Mean age (years) ± SD | 11.36 ± 4.19 | |
| Range | 4–19 | |
| n | (&) | |
| Gender | ||
| Male | 19 | (45.2%) |
| Female | 23 | (54.8%) |
| Diagnostic criteria met for TSC | 42 | (100%) |
| Tubers (brain MRI) | 37 | (88.1%) |
| Never had epilepsy | 13 | (31.0%) |
| Well controlled epilepsy (seizure free) | 16 | (38.0%) |
| Active epilepsy | 13 | (31.0%) |
| One or more seizures/day | 3 | (23.1%) |
| One or more seizures/week | 8 | (61.5%) |
| Sporadic seizures | 2 | (15.4%) |
| Seizure types | ||
| Infantile Spasms | 4 | (13.8%) |
| Focal seizures | 19 | (65.5%) |
| Infantile Spasms + Focal seizures | 2 | (6.9%) |
| Generalized seizures | 4 | (13.8%) |
| Antiepileptic treatment | 28 | (66.7%) |
| Monotherapy | 11 | (39.3%) |
| Polytherapy | 17 | (60.7%) |
| Neurosurgical treatment for epilepsy | 3 | (7.1%) |
| Subependymal giant cell astrocytoma (SEGA) | 10 | (23.8%) |
| Neurosurgical treatment for SEGA | 2 | (20.0%) |
| SEGA treated with Everolimus | 6 | (60.0%) |
| Stable SEGA on brain MRI | 2 | (20.0%) |
| Received IQ assessment | 42 | (100%) |
| Median IQ ± SD | 74.48 ± 28.05 | |
| Range | 20–134 | |
| Normal IQ | 17 | (40.5%) |
| BIF | 10 | (23.8%) |
| Mild ID | 4 | (9.5%) |
| Moderate ID | 8 | (19.0%) |
| Severe/profound ID | 3 | (7.1%) |
| Received formal psychiatric assessment | 12 | (28.6%) |
| ASD | 4 | (33.3%) |
| ADHD | 6 | (50.0%) |
| Anxious/Depressed Disorder | 2 | (16.6%) |
| Additional support in school (i.e. IEP) | 28 | (66.7%) |
| SLD | 5 | (11.9%) |
| Low self-esteem (per parents’ report) | 11 | (26.2%) |
| Very high levels of stress in families | 16 | (38.1%) |
| Very high levels of stress between parents | 18 | (42.9%) |