Table 2.
Main clinical characteristics of the 24 children identified with risk of ASD at the age of 24 months.
| TSC gene mutation | Age at seizure onset (weeks) | Infantile spasms | Refractory epilepsy | Delay in cognitive development | ADOS score/ASD risk | Treatment | |
|---|---|---|---|---|---|---|---|
| 1 | TSC1 | No seizures | No | No | Y | 10/mild‐moderate | Early |
| 2 | TSC1 | No seizures | No | No | No | 8/mild‐moderate | Early |
| 3 | TSC2 | No seizures | No | No | No | 19/high | Early |
| 4 | TSC1 | No seizures | No | No | No | 21/high | Early |
| 5 | TSC2 | No seizures | No | No | No | 17/high | Early |
| 6 | TSC2 | 9 | No | Yes | Y | 26/high | Early |
| 7 | TSC2 | 87 | No | No | Y | 20/high | Early |
| 8 | TSC2 | 86 | No | No | Y | 15/high | Early |
| 9 | TSC2 | 8 | No | Yes | Y | 18/high | Early |
| 10 | TSC2 | 53 | No | Yes | No | 9/mild‐moderate | Early |
| 11 | TSC2 | 52 | No | No | Y | 16/high | Early |
| 12 | TSC2 | 51 | No | Yes | Y | 22/high | Early |
| 13 | TSC2 | 38 | No | Yes | Y | high | Early |
| 14 | TSC1 | 2 | No | Yes | No | 11/mild‐moderate | Early |
| 15 | TSC2 | 13 | No | Yes | Y | High | Early |
| 16 | TSC2 | 9 | Yes | Yes | Y | 20/high | Conventional |
| 17 | TSC2 | 9 | No | Yes | Y | 13/mild‐moderate | Conventional |
| 18 | TSC1 | 35 | No | No | No | 17/high | Conventional |
| 19 | TSC2 | 34 | Yes | No | Y | 17/high | Conventional |
| 20 | TSC2 | 32 | No | No | No | 10/mild‐moderate | Conventional |
| 21 | TSC2 | 17 | No | Yes | Y | 10/mild‐moderate | Conventional |
| 22 | TSC2 | 15 | No | Yes | Y | 15/high | Conventional |
| 23 | TSC1 | 14 | No | Yes | No | 21/high | Conventional |
| 24 | TSC2 | 10 | No | Yes | No | 12/mild‐moderate | Conventional |