Table 1.
Characteristics of patients with TSC–epilepsy stratified by the proportion of follow‐up time in refractory state
| Patients with TSC–epilepsy having data on refractory epilepsy (N = 237) | ||||
|---|---|---|---|---|
| Proportion of follow‐up time in refractory state (based on refractory flag and treatment response in the data) | ||||
| 100.0% | 50.0%‐99.9% | 0.1%‐50.0% | 0.0% | |
| N = 49 | N = 81 | N = 44 | N = 63 | |
| Follow‐up, y, mean ± SD [median] | 30.7 ± 9.7 [27.7] | 36.4 ± 10.3 [34.7]* | 36.0 ± 19.7 [31.5] | 30.4 ± 17.6 [27.7] |
| Time with refractory epilepsy, y, mean ± SD [median] | 30.7 ± 9.7 [27.7] | 28.3 ± 8.9 [27.7] | 8.7 ± 8.2 [6.4]* | 0.0 ± 0.0 [0.0]* |
| Quality of life | ||||
| HUI measurement, n (%) | 30 (61.2%) | 56 (69.1%) | 27 (61.4%) | 32 (50.8%) |
| HUI score, mean ± SD [median] | 0.00 ± 0.32 [−0.11] | 0.29 ± 0.41 [0.22]* | 0.37 ± 0.41 [0.36]* | 0.57 ± 0.41 [0.71]* |
| Cognitive score, mean ± SD [median] | 0.15 ± 0.29 [0.00] | 0.42 ± 0.38 [0.32]* | 0.47 ± 0.36 [0.32]* | 0.73 ± 0.33 [0.86]* |
| Demographics | ||||
| Age, mean ± SD [median] | 45.8 ± 12.6 [45.8] | 42.4 ± 11.6 [42.8] | 43.8 ± 14.7 [42.5] | 52.7 ± 13.6 [53.3]* |
| Gender, n (%) | ||||
| Male | 27 (55.1%) | 44 (54.3%) | 31 (70.5%) | 31 (49.2%) |
| Female | 22 (44.9%) | 37 (45.7%) | 13 (29.5%) | 32 (50.8%) |
| Living arrangement, n (%) | ||||
| Independent | 0 (0.0%) | 12 (14.8%) | 4 (9.1%) | 15 (23.8%) |
| With caregiver | 5 (10.2%) | 12 (14.8%) | 10 (22.7%) | 12 (19.0%) |
| Group home | 31 (63.3%) | 30 (37.0%)* | 19 (43.2%) | 28 (44.4%)* |
| Group home and caregiver | 7 (14.3%) | 20 (24.7%) | 5 (11.4%) | 3 (4.8%) |
| Other living arrangement | 6 (12.2%) | 7 (8.6%) | 6 (13.6%) | 5 (7.9%) |
| Clinical characteristics | ||||
| Type of seizure, n (%) | ||||
| Bilateral seizures with motor symptoms | 27 (55.1%) | 32 (39.5%) | 11 (25.0%)* | 11 (17.5%)* |
| Focal seizures | 36 (73.5%) | 63 (77.8%) | 26 (59.1%) | 16 (25.4%)* |
| Epileptic spasms | 4 (8.2%) | 5 (6.2%) | 2 (4.5%) | 0 (0.0%) |
| Other manifestations of TSC, n (%) | ||||
| SEGA | 16 (32.7%) | 20 (24.7%) | 14 (31.8%) | 13 (20.6%) |
| rAML | 41 (83.7%) | 62 (76.5%) | 31 (70.5%) | 50 (79.4%) |
| TSC mutation, n (%) | ||||
| Had a test for gene mutations | 48 (98.0%) | 78 (96.3%) | 42 (95.5%) | 59 (93.7%) |
| TSC1 mutation | 5 (10.2%) | 15 (18.5%) | 10 (22.7%) | 5 (7.9%) |
| TSC2 mutation | 27 (55.1%) | 36 (44.4%) | 20 (45.5%) | 29 (46.0%) |
| Comorbidities, n (%) | ||||
| Skin abnormalities | 36 (73.5%) | 66 (81.5%) | 33 (75.0%) | 51 (81.0%) |
| Visual impairment | 17 (34.7%) | 27 (33.3%) | 11 (25.0%) | 17 (27.0%) |
| Skeletal disorder | 34 (69.4%) | 40 (49.4%)* | 25 (56.8%) | 35 (55.6%) |
| Cardiovascular problem | 17 (34.7%) | 41 (50.6%) | 19 (43.2%) | 27 (42.9%) |
| Sleeping disorder | 8 (16.3%) | 11 (13.6%) | 1 (2.3%)* | 6 (9.5%) |
| Level of daily functioning, n (%) | ||||
| Severe impairment | 40 (81.6%) | 53 (65.4%)* | 28 (63.6%) | 36 (57.1%)* |
| Mild or moderate impairment | 5 (10.2%) | 9 (11.1%) | 3 (6.8%) | 6 (9.5%) |
| No impairment | 3 (6.1%) | 19 (23.5%)* | 13 (29.5%)* | 20 (31.7%)* |
| Missing | 1 (2.0%) | 0 (0.0%) | 0 (0.0%) | 1 (1.6%) |
| Number of AED agents used, mean ± SD [median] | 5.0 ± 2.7 [4.0] | 5.6 ± 2.9 [5.0] | 3.5 ± 1.8 [3.0]* | 1.6 ± 1.2 [1.0]* |
| Healthcare resource utilization | ||||
| Patients with a visit during follow‐up time, n (%) | ||||
| Hospital | 17 (34.7%) | 40 (49.4%) | 16 (36.4%) | 9 (14.3%)* |
| Intensive care unit | 3 (6.1%) | 1 (1.2%) | 1 (2.3%) | 2 (3.2%) |
| Neurologist | 33 (67.3%) | 77 (95.1%)* | 33 (75.0%) | 27 (42.9%)* |
| Most common procedures during follow‐up time, n (%) | ||||
| EEG | 14 (28.6%) | 55 (67.9%)* | 27 (61.4%)* | 20 (31.7%) |
| MRI of the brain | 6 (12.2%) | 16 (19.8%) | 10 (22.7%) | 4 (6.3%) |
| CT scan of the brain | 3 (6.1%) | 20 (24.7%)* | 4 (9.1%) | 4 (6.3%) |
| Events | ||||
| Patients with an event during follow‐up time, n (%) | ||||
| Bilateral tonic‐clonic status epilepticus | 11 (22.4%) | 12 (14.8%) | 5 (11.4%) | 2 (3.2%)* |
| Nonconvulsive status epilepticus | 0 (0.0%) | 5 (6.2%) | 0 (0.0%) | 1 (1.6%) |
| Focal status epilepticus | 0 (0.0%) | 1 (1.2%) | 1 (2.3%) | 0 (0.0%) |
| Fractures | 14 (28.6%) | 11 (13.6%)* | 2 (4.5%)* | 0 (0.0%) |
| Injury or poisoning | 4 (8.2%) | 4 (4.9%) | 4 (9.1%) | 2 (3.2%) |
| Wounds | 2 (4.1%) | 2 (2.5%) | 0 (0.0%) | 2 (3.2%) |
| Behavioral impairment | 0 (0.0%) | 3 (3.7%) | 0 (0.0%) | 0 (0.0%) |
| Cognitive decline | 0 (0.0%) | 2 (2.5%) | 0 (0.0%) | 0 (0.0%) |
| Neurological insult | 1 (2.0%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) |
Abbreviations: AED, antiepileptic drug; rAML, renal angiomyolipoma; CT, computerized tomography; EEG, electroencephalography; EMG, electromyogram; HUI, Health Utility Index; IQ, intelligence quotient; MEG, magnetoencephalography; MRI, magnetic resonance imaging; PET, positron emission tomography; SD, standard deviation; SEGA, subependymal giant cell astrocytoma; SPECT, single‐photon emission computerized tomography; TSC, tuberous sclerosis complex; WADA, intracarotid sodium amobarbital test.
*
Indicates P‐value < .05 compared to patients who are refractory 100% of the time. Chi‐square test was conducted for comparing categorical variables, and t test was conducted for comparing continuous variables.