Fetal Brain Magnetic Resonance Imaging Findings Predict Neurodevelopment in Children with Tuberous Sclerosis Complex
Abstract
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.