To correlate fetal brain MRI findings with epilepsy characteristics and neurodevelopment at two years of age in children with Tuberous Sclerosis Complex (TSC) in order to improve prenatal counseling STUDY DESIGN: This retrospective cohort study was performed in a collaboration between centers of the EPISTOP consortium. We included children with definite TSC, fetal MRIs, and available follow-up data at two years of age.
A pediatric neuroradiologist masked to the patient's clinical characteristics evaluated all fetal MRIs. MRIs were categorized for each of the ten brain lobes as score 0: no (sub)cortical lesions or doubt; score 1: a single small lesion; score 2: more than one small lesion or at least one large lesion (> 5mm).
Neurological manifestations were correlated to lesion sum scores RESULTS: Forty-one children were included. Median gestational age at MRI was 33.3 weeks; (sub)cortical lesions were detected in 97.6%.
Mean lesion sum score was 4.5. At two years, 58.5% of patients had epilepsy and 22% had drug-resistant epilepsy.
Cognitive, language, and motor development were delayed in 38%, 81%, and 50% of patients, respectively. Autism spectrum disorder (ASD) was diagnosed in 20.5%.
Fetal MRI lesion sum scores were significantly associated with cognitive and motor development, and with ASD diagnosis, but not with epilepsy characteristics CONCLUSION: Fetal cerebral lesion scores correlate with neurodevelopment and ASD at two years in children with TSC.