Table 3 Effect of mTOR inhibitor therapy on TSC-related manifestations and neurodevelopment
Patient # | Reason for therapy | Effect of therapy | Development before therapy | Development at follow-up |
|---|---|---|---|---|
1 | SEGA | Decrease of SEGA | Normal | DD (not specified) |
2 | Congenital focal lymphedema | Regression of congenital focal lymphedema | DD (global) | DD (not specified) K-ABC, WPPSI-III |
3 | SEGA | Decrease of SEGA | DD (motor) | Normal SON-R |
4 | SEGA | Decrease of SEGA | DD (not specified) | DD (global) MFED |
5 | Epilepsy | Decrease of seizure frequency | DD (not specified) | NA |
6 | CR | Decrease of CR | Normal | Normal |
7 | CR | Decrease of CR | Normal | DD (speech) MFED |
8 | SEGA | No effect | DD (not specified) | DD (global) Bayley II |
9 | CR / SEGA | Decrease of CR / SEGA | NA | DD (global) |
10 | Epilepsy | Ongoing seizures | NA | Normal |
11 | CR / cardiac arrhythmia | Decrease of CR | NA | DD (global) |
12 | SEGA | Decrease of CR / SEGA | Normal | DD (global) Bayley II |
13 | CR / cardiac arrhythmia | Decrease of CR | DD (motor) | DD (motor) Bayley II, VABS II, CBCL 1½-5, ELFRA-2 |
14 | CR | Decrease of CR | DD (global) | DD (motor) |
15 | CR | Decrease of CR | Normal | NA |
16 | Epilepsy | Decrease of seizure frequency | DD (not specified) | DD (global) Bayley II, GMDS |
17 | Epilepsy | Ongoing seizures | DD (motor) | DD (not specified) |