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Prenatal diagnosis and early intervention improve neurodevelopmental and epileptic outcomes in children with tuberous sclerosis complex: A large retrospective cohort study

Objectives To assess whether prenatal diagnosis and early intervention are beneficial for neurodevelopment and prognosis of epilepsy in individuals with tuberous sclerosis, which would be a major disease burden for TSC individuals. Methods This retrospective study was derived from a single-center TSC-specific cohort. We enrolled 273 individuals with definite TSC who completed TSC1/TSC2 genetic testing and were followed up to 2 years of age. We compared prenatally diagnosed individuals (PreDI) to postnatally diagnosed individuals (PostDI) and PreDI receiving both sirolimus and vigabatrin prophylactic intervention (PI) to individuals without intervention (no-PI) in terms of epilepsy and neurodevelopment to assess the benefits of early attention and intervention. Results The rate of epilepsy occurrence was significantly lower in the PreDI group than in the PostDI group (p=0.027). In the PreDI group, the rate of epilepsy in the PI subgroup was significantly lower than that in the no-PI subgroup (p=0.008). The PreDI group showed significant improvements in cognitive, language, and motor development compared to the PostDI group and in the PI group compared to the no-PI group (p< 0.05). Conclusion Cardiac rhabdomyomas and/or intracranial lesions combined with TSC1/TSC2 genetic testing is an appropriate and effective method for prenatal diagnosis. Early postnatal interventions can reduce the incidence of epilepsy and improve neurodevelopmental outcomes.
Keywords: yifengding@fudan.edu.cn