Table 1.
Main clinical characteristics of the 80 infants prospectively evaluated in this study.
| Overall | Early treatment (n = 43) | Conventional treatment (n = 33) | ||
|---|---|---|---|---|
| Genetics | TSC1 mutation | 20/80 (25%) | 8/43 (18.6%) | 10/33 (30.3%) |
| TSC2 mutation | 59/80 (73.75%) | 34/43 (79.1%) | 23/33 (69.7%) | |
| No mutation identified | 1/80 (1.25%) | 1/43 (2.3%) | 0 | |
| Epilepsy | History of epilepsy | 51/80 (63.8%) | 23/43 (53.5%) | 28/33 (84.8%) |
| Mean age at seizure onset | 25 weeks | 27 | 24 | |
| Infantile spasms | 10/51 (19.6%) | 0 | 10/33 (30%) | |
| Refractory epilepsy | 32/51 (62.7%) | 13/43 (30.2%) | 19/33 (57.6%) | |
| No history of epilepsy | 29/80 (36.2%) | 20/43 (46.5%) | 5/33 (15.1%) | |
| Neurodevelopmental status | Mean cognitive DQ | 77.4 | 74.1 | 77.6 |
| Normal cognitive DQ | 54/80 (67.5%) | 28/43 (65.1%) | 22/33 (66.7%) | |
| Mean cogDQ | 86.9 | 83.2 | 87 | |
| Cognitive DQ < 70 | 26/80 (32.5%) | 15/43 (34.9%) | 11/33 (33.3%) | |
| Mean cogDQ | 58 | 57.7 | 58.6 | |
| Cognitive DQ < 55 | 0 | 0 | 0 | |
| Risk of ASD identified | 24/80 (30%) | 14/43 (32.6%) | 10/33 (30.3%) | |
| Mean ADOS score | 7.8 | 8.6 | 7.9 |