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) |
CBCL Child Behavior Checklist, CR cardiac rhabdomyoma, DD developmental delay, ELFRA Elternfragebogen für die Früherkennung von Risikokindern, GMDS Griffith Mental Developmental Scales, K-ABC Kaufman Assessment Battery for Children, MFED Münchener Funktionelle Entwicklungsdiagnostik, NA not available, SEGA subependymal giant cell astrocytoma, SON-R Snijders-Oomen non-verbal intelligence test, VABS Vineland Adaptive Behavior Scale, WPPSI Wechsler Preschool and Primary Scale of Intelligence