Table 3.
Clinical characteristics.
| Clinical characteristics | All DEE patients (N = 33) | DEE with genetic diagnosis (N = 15) | DEE without genetic diagnosis (N = 18) |
|---|---|---|---|
| Female gender % (n/total n) | 39% (13/33) | 47% (7/15) | 33% (6/18) |
| Average age in 2021 in year (min-max) | 20,12 (5–49) | 19,7 (5–31) | 20,4 (6–49) |
| Age interval of reported seizure onset | 1 day – 3y and 7mo | 2 days – 3y | 1 day – 3y and 7mo |
| First seizure before the age of 2y, in % (n/total n) | 70% (23/33) | 87% (13/15) | 56% (10/18) |
| Active epilepsy in 2021 | 97% (32/33) | 93% (14/15) | 100% (18/18) |
| ASM use in 2021 | 94% (31/33) | 87% (13/15) | 100% (18/18) |
| Average number of reported ASMs tried (min-max) | 6, 6 (1–15) | 5, 6 (1–10) | 7, 5 (2–15) |
| Ketogenic diet tried (n tried/total n) | 24% (8/33) | 20% (3/15) | 28% (5/18) |
| Infantile spasms | 15% (5/33) | 13% (2/15) | 17% (3/18) |
| Status epilepticus (n/total n) | 15% (5/33) | 13% (2/15) | 17% (3/18) |
| EEG with hypsarrhythmia | 12% (4/33) | 7% (1/15) | 17% (3/18) |
| Normal development prior to first seizure | 51% (17/33) | 47% (7/15) | 56% (10/18) |
| ID any degree ID mild-moderate degree ID severe-profound degree ID unspecified degree Too young for testing |
97% (32/33) 45% (15/33) 33% (13/33) 18% (6/33) 3% (1/33) |
93% (14/15) 27% (4/15) 47% (7/15) 20% (3/15) 7% (1/15) |
100% (18/18) 61% (11/18) 22% (4/18) 17% (3/18) 0% (0/18) |
| Behavioral disturbances | 58% (19/33) | 27% (4/15) | 83% (15/18) |
| Language development delayed | 82% (27/33) | 87% (13/15) | 78% (14/18) |
| No verbal language in 2021 | 36% (12/33) | 47% (7/15) | 28% (5/18) |
| Delayed motor development | 84% (28/33) | 93% (14/15) | 78% (14/18) |
| Walking in 2021 (n/total n) | 73% (24/33) | 60% (9/15) | 83% (15/18) |
n, number; y, years; min, minimum; max, maximum; mo, month(s); ASM, antiseizure medicine; EEG, electro encephalography; ID, intellectual disability; NA, not applicable.