Table 1 Clinical, cognitive and genetic data
From: Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy
Clinical and cognitive characteristics | SCN1A+ | SCN1A- | Total |
|---|---|---|---|
N | 58 | 9 | 67 |
Sex: boys N (%) | 33 (56.9) | 6 (66.7) | 39 (58.2) |
Age in years: mean (SD) | Ā | Ā | Ā |
āĀ at last follow-up | 9.1 (5.3) | 8.7 (4.6) | 9.0 (5.2) |
āĀ at first examination | 4.0 (5.4) | 4.0 (2.7) | 4.0 (5.2) |
Follow-up duration | 5.1 (4.2) | 4.7 (5.6) | 5.0 (4.4) |
Family history for seizures: N (%) | 21 (36.2) | 4 (44.4) | 25 (37.3) |
āĀ Dravet Syndrome | 3 (5.2) | 0 | 3 (4.5) |
āĀ Febrile seizures | 14 (24.1) | 3 (33.3) | 17 (25.4) |
āĀ Febrile seizures plus | 2 (3.4) | 0 | 2 (3.0) |
āĀ Epilepsy | 8 (13.8) | 1 (11.1) | 9 (13.4) |
Age at first seizure: N (%) | Ā | Ā | Ā |
āĀ 0-3Ā months | 6 (10.3) | 1 (11.1) | 7 (10.4) |
āĀ 3-6Ā months | 29 (50.0) | 5 (55.6) | 34 (50.7) |
āĀ 6-9Ā months | 18 (31.0) | 1 (11.1) | 19 (28.4) |
āĀ > 9Ā months | 5 (8.3) | 2 (22.2) | 7 (10.5) |
Type of seizures: N (%) | Ā | Ā | Ā |
āĀ Tonic-clonic | 51 (87.9) | 8 (88.9) | 59 (88.1) |
āĀ Absences | 32 (55.2) | 5 (55.6) | 37 (55.2) |
āĀ Myoclonic | 29 (50.0) | 6 (66.7) | 35 (52.2) |
āĀ Tonic | 7 (12.1) | 4 (44.4) | 11 (16.4) |
āĀ Clonic | 38 (65.5) | 7 (77.8) | 45 (67.2) |
āĀ Partial | 23 (39.7) | 3 (33.3) | 26 (38.8) |
Sensitivity to fever | 51 (87.9) | 7 (77.8) | 58 (86.6) |
Photosensitivity | 11 (19.0) | 4 (44.4) | 15 (22.4) |
Status Epilepticus (SE) | Ā | Ā | Ā |
āĀ Present: N (%) | 46 (79.3) | 6 (66.7) | 52 (77.6) |
āĀ Age at first SE: N (%) | Ā | Ā | Ā |
āĀ 0-3Ā months | 0 | 1 (16.7) | 1 (1.9) |
āĀ 3-6Ā months | 12 (26.1) | 3 (50.0) | 15 (28.8) |
āĀ 6-9Ā months | 14 (30.4) | 0 | 14 (26.9) |
āĀ 9-12Ā months | 7 (15.2) | 1 (16.7) | 8 (15.4) |
āĀ >12Ā months | 13 (28.3) | 1 (16.7) | 14 (26.9) |
Neurological features: N (%) | Ā | Ā | Ā |
āĀ Ataxia/Gait disorders* | 45 (77.5) | 4 (44) | 49 (73) |
āĀ Pyramidal signs | 4 (6.9) | 1 (11.1) | 5 (7.5) |
Last DQ/IQ | Ā | Ā | Ā |
āĀ Mean (SD) | 53.4 (20.9) | 42.9 (11.3) | 51.9 (20.2) |
āĀ Range | 30-105 | 30-65 | 30-105 |
āĀ Age at last DQ/IQ (years) | Ā | Ā | Ā |
āĀ Mean (SD) | 6.0 (4.6) | 8.7 (3.7) | 6.4 (4.5) |
āĀ Range | 1.1-23.9 | 4.6-16.1 | 1.1-23.9 |
Semi-quantitative psychomotor score | Ā | Ā | Ā |
āĀ (SQPS) | Ā | Ā | Ā |
āĀ Mild | 33 (57.9) | 5 (55.6) | 38 (57.6) |
āĀ Moderate | 9 (15.8) | 4 (44.4) | 13 (19.7) |
āĀ Severe | 15 (26.3) | 0 | 15 (22.7) |