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Fetal Brain Magnetic Resonance Imaging Findings Predict Neurodevelopment in Children with Tuberous Sclerosis Complex
Hanna M Hulshof1, Emma M H Slot1, Maarten Lequin2
1Department of Pediatric Neurology, University Medical Center, Utrecht Brain Center, Utrecht, the Netherlands (Member of the European Reference Network EpiCARE).
Insights
Fetal brain MRI findings in tuberous sclerosis complex (TSC) correlate with neurodevelopmental outcomes and autism spectrum disorder (ASD) at age two, aiding prenatal counseling.
Area of Science:
- Pediatric Neurology
- Neuroimaging
- Genetics
Background:
- Tuberous sclerosis complex (TSC) is a genetic disorder associated with neurological complications.
- Prenatal diagnosis and counseling for TSC are crucial for managing potential neurodevelopmental issues.
Purpose of the Study:
- To correlate fetal brain MRI findings with epilepsy, neurodevelopment, and autism spectrum disorder (ASD) at 2 years in children with TSC.
- To enhance prenatal counseling for TSC by identifying early imaging biomarkers.
Main Methods:
- Retrospective cohort study of 41 children with TSC, fetal MRIs, and 2-year follow-up.
- Fetal MRIs were evaluated for (sub)cortical lesions, categorized by severity per lobe.
- Lesion sum scores were correlated with neurological manifestations and developmental outcomes.
Main Results:
- Nearly all (97.6%) children had detectable fetal brain lesions, with a mean lesion sum score of 4.5.
- At 2 years, epilepsy affected 58.5%, with 22% drug-resistant; developmental delays were common (cognitive 38%, language 81%, motor 50%), and 20.5% were diagnosed with ASD.
- Higher fetal MRI lesion scores correlated significantly with cognitive/motor delays and ASD diagnosis, but not epilepsy characteristics.
Conclusions:
- Fetal brain lesion burden in TSC is a significant predictor of neurodevelopmental outcomes and ASD.
- Prenatal MRI findings can inform prognosis and counseling for families affected by TSC.
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.
