Fetal Brain Magnetic Resonance Imaging Findings Predict Neurodevelopment in Children with Tuberous Sclerosis Complex
Hanna M. Hulshof, Emma M. H. Slot, Maarten H. Lequin, Delphine Breuillard, Nathalie Boddaert, Sergiusz Jóźwiak, Katarzyna Kotulska, Kate Riney, Martha Feucht, Sharon Samueli, Theresa O. Scholl, Pavel Kršek, Barbora Beňová, Kees P. J. Braun, Floor E. Jansen, Rima Nabbout, Paolo Curatolo, Lieven Lagae, Anna Jansen, E. Aronica, David J. Kwiatkowski, Bernhard Weschke, Konrad Wojdan, Kamil Sijko, Joanna Głowacka, Julita Borkowska, Krzysztof Sadowski, Dorota Domańska‐Pakieła, Jasper J. Anink, Arianna Benvenuto, Magdalena Błażejczyk, Alphons H.H. Bongaerts, Dariusz Chmielewski, Magda Dąbrowska, Jessie De Ridder, Krinio Giannikou, Lana Hamieh, A. Haręza, Anand M. Iyer, Bart Janssen, Jacek Jaworski, Magdalena Kaczorowska‐Frontczak, Katrin Lehmann, A. Leusman, N. Maćkowiak, James D. Mills, A. Muelebner, Chloë Scheldeman, Antonio Sciuto, Monika Słowińska, Aleksandra Tempes, Jackelien van Scheppingen, Birgit Verhelle, Jan Vervisch, Małgorzata Urbańska
Abstract
ObjectiveTo 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 designThis 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.ResultsForty-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.ConclusionsFetal cerebral lesion scores correlate with neurodevelopment and ASD at 2 years in children with TSC. 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. 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. 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. Fetal cerebral lesion scores correlate with neurodevelopment and ASD at 2 years in children with TSC.