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

Abstract

OBJECTIVE:

To correlate fetal brain magnetic resonance imaging (MRI) findings with epilepsy characteristics and neurodevelopment at 2 years of age in children with tuberous sclerosis complex (TSC) 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 2 years 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 (>5 mm). Neurologic 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 2 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.

CONCLUSIONS:

Fetal cerebral lesion scores correlate with neurodevelopment and ASD at 2 years in children with TSC.

• Authors: Hanna M Hulshof, Emma M H Slot, Maarten Lequin, Delphine Breuillard, Nathalie Boddaert, Sergiusz Jozwiak, Katarzyna Kotulska, Kate Riney, Martha Feucht, Sharon Samueli, Theresa Scholl, Pavel Krsek, Barbora Benova, Kees P J Braun, Floor E Jansen, Rima Nabbout, EPISTOP consortium
• Journal: The Journal of pediatrics (J Pediatr) Vol. 233 Pg. 156-162.e2 (06 2021) ISSN: 1097-6833 [Electronic] United States
• PMID: 33640330 (Publication Type: Journal Article, Multicenter Study, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2021 The Author(s). Published by Elsevier Inc. All rights reserved.

Topics

• Brain (diagnostic imaging)
• Child, Preschool
• Cognition Disorders (epidemiology)
• Cohort Studies
• Epilepsy (epidemiology)
• Female
• Follow-Up Studies
• Humans
• Infant
• Language Development Disorders (epidemiology)
• Magnetic Resonance Imaging
• Neurodevelopmental Disorders (epidemiology)
• Pregnancy
• Retrospective Studies
• Tuberous Sclerosis (epidemiology)