TY - JOUR
T1 - Fetal brain magnetic resonance imaging findings predict neurodevelopment in children with tuberous sclerosis complex
AU - Hulshof, Hanna M.
AU - Slot, Emma M.H.
AU - EPISTOP Consortium
AU - Lequin, Maarten
AU - Breuillard, Delphine
AU - Boddaert, Nathalie
AU - Jozwiak, Sergiusz
AU - Kotulska, Katarzyna
AU - Riney, Kate
AU - Feucht, Martha
AU - Samueli, Sharon
AU - Scholl, Theresa
AU - Krsek, Pavel
AU - Benova, Barbora
AU - Braun, Kees P.J.
AU - Jansen, Floor E.
AU - Nabbout, Rima
AU - Curatolo, P.
AU - Lagae, L.
AU - Jansen, A.
AU - Aronica, E.
AU - Kwiatkowski, D.
AU - Weschke, B.
AU - Wojdan, K.
AU - Sijko, K.
AU - Głowacka, J.
AU - Borkowska, J.
AU - Sadowski, K.
AU - Domańska-Pakieła, D.
AU - Anink, J.
AU - Benvenuto, A.
AU - Blazejczyk, M.
AU - Bongaerts, A.
AU - Chmielewski, D.
AU - Dabrowska, M.
AU - De Ridder, J.
AU - Giannikou, K.
AU - Hamieh, L.
AU - Haręza, A.
AU - Iyer, A.
AU - Janssen, B.
AU - Jaworski, J.
AU - Kaczorowska-Frontczak, M.
AU - Lehmann, K.
AU - Leusman, A.
AU - Maćkowiak, N.
AU - Mills, J.
AU - Muelebner, A.
AU - Scheldeman, C.
AU - Sciuto, A.
AU - Slowinska, M.
N1 - Publisher Copyright:
© 2021 The Author(s)
PY - 2021/6
Y1 - 2021/6
N2 - 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.
AB - 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.
UR - https://www.scopus.com/pages/publications/85103563815
U2 - 10.1016/j.jpeds.2021.02.060
DO - 10.1016/j.jpeds.2021.02.060
M3 - Article
C2 - 33640330
AN - SCOPUS:85103563815
SN - 0022-3476
VL - 233
SP - 156-162.e2
JO - Journal of Pediatrics
JF - Journal of Pediatrics
ER -