Prenatal diagnosis and intervention improve developmental outcomes and epilepsy prognosis in children with tuberous sclerosis complex.

Aim: To assess whether prenatal diagnosis and early intervention are beneficial for developmental outcomes and epilepsy prognosis in individuals with tuberous sclerosis complex (TSC).
Method: This retrospective study originated from a single-centre TSC-specific cohort. We enrolled 273 individuals (138 males, 145 females; 2 years-7 years 6 months, mean 4 years 5 months, SD 1 year 6 months) with definitive TSC who completed TSC1/TSC2 genetic testing and were followed up to 2 years of age. The benefits of early attention and intervention were assessed by comparing epilepsy and developmental outcomes between groups with or without a prenatal diagnosis and with or without presymptomatic preventive intervention.
Results: The epilepsy occurrence rate was significantly lower in individuals diagnosed prenatally than in individuals diagnosed postnatally (p = 0.027). In individuals diagnosed prenatally, the epilepsy rate in the preventive intervention subgroup was significantly lower than that in the subgroup without preventive intervention (p = 0.008). Significant improvements in cognitive, language, and motor development were observed in individuals diagnosed prenatally compared to individuals diagnosed postnatally and in the preventive intervention subgroup compared to the subgroup without preventive intervention (p < 0.05).
Interpretation: Based on this study, we cautiously speculate that early postpartum intervention may reduce the incidence of epilepsy and intractable epilepsy and improve developmental outcomes. Prophylactic intervention with sirolimus and vigabatrin may reduce the incidence of epilepsy. Larger prospective randomized controlled studies are required to support these findings.
What This Paper Adds: Prenatal diagnosis and early intervention may improve developmental outcomes in children with tuberous sclerosis complex (TSC). Prophylactic intervention with sirolimus and vigabatrin may reduce the incidence of epilepsy. Cardiac and/or intracranial lesions combined with genetic testing can be used to diagnose TSC prenatally.
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