Abstract
To correlate fetal brain magnetic resonance imaging (MRI) findings with epilepsy characteristics and neurodevelopment at 2years of age in children with tuberous sclerosis complex (TSC) to improve prenatal counseling. 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 2years of age. A pediatric neuroradiologist masked to the patient's clinical characteristics evaluated all fetal MRIs. MRIs were categorized for each of the 10 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). Neurologic manifestations were correlated to lesion sum scores. Forty-one children were included. Median gestational age at MRI was 33.3weeks; (sub)cortical lesions were detected in 97.6%. Mean lesion sum score was 4.5. At 2years, 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. Fetal cerebral lesion scores correlate with neurodevelopment and ASD at 2years in children with TSC.
Highlights
In the test set of 3 children, 9 of 10 observed lesions on fetal magnetic resonance imaging (MRI) were confirmed on the postnatal follow-up MRI (90%)
There was no correlation between tuberous sclerosis complex (TSC) mutation and lesion sum score on fetal MRI (b = 1.05, 95% CI –1.12 to 3.22, R2 = 0.03, P = .33); patients with a TSC-1 mutation had a mean lesion sum score of 3.78 compared with 4.83 in patients with a TSC-2 mutation
Our study shows that thecortical lesion sum score as assessed with fetal MRI is associated with neurodevelopment at age 2 years in children with TSC
Summary
We performed a retrospective cohort study across 6 centers of the EPISTOP consortium. Clinical data collected included gestational age at time of fetal MRI, type of TSC mutation, family history of TSC, and detailed epilepsy characteristics: age at seizure onset, presence of epilepsy (defined as clinical seizures), as well as the presence of drug-resistant epilepsy (as defined by International League Against Epilepsy12) at 2 years, number and type of antiepileptic drugs (AEDs) ever tried before the age of 2 years, including preventive treatment (given when frequent unifocal or multifocal interictal epileptiform discharges were recorded on electroencephalogram, but before [sub]clinical seizures emerged) and whether they underwent epilepsy surgery. Neurodevelopmental outcome data at 2 years included cognitive, language, and motor development and presence or absence of ASD. Treating neurologists were asked to estimate developmental age for cognitive, language, and motor development based on their clinical impression and evaluation by a speech therapist and physical therapist, when applicable. Outcomes were categorized as follows: normal (developmental quotient [DQ] 385), borderline (DQ 70-85), or delayed (DQ < 70)
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