BACKGROUND AND PURPOSE: Tuberous sclerosis complex disease is a rare, multisystem genetic disease, but appropriate drug treatment allows many pediatric patients to have positive outcomes. The purpose of this study was to predict the effectiveness of antiseizure medication treatment in children with tuberous sclerosis complex–related epilepsy. MATERIALS AND METHODS: We conducted a retrospective study involving 300 children with tuberous sclerosis complex–related epilepsy. The study included the analysis of clinical data and T2WI and FLAIR images. The clinical data consisted of sex, age of onset, age at imaging, infantile spasms, and antiseizure medication numbers. To forecast antiseizure medication treatment, we developed a multitechnique deep learning method called WAE-Net. This method used multicontrast MR imaging and clinical data. The T2WI and FLAIR images were combined as FLAIR3 to enhance the contrast between tuberous sclerosis complex lesions and normal brain tissues. We trained a clinical data-based model using a fully connected network with the above-mentioned variables. After that, a weighted-average ensemble network built from the ResNet3D architecture was created as the final model. RESULTS: The experiments had shown that age of onset, age at imaging, infantile spasms, and antiseizure medication numbers were significantly different between the 2 drug-treatment outcomes (P < .05). The hybrid technique of FLAIR3 could accurately localize tuberous sclerosis complex lesions, and the proposed method achieved the best performance (area under the curve = 0.908 and accuracy of 0.847) in the testing cohort among the compared methods. CONCLUSIONS: The proposed method could predict antiseizure medication treatment of children with rare tuberous sclerosis complex–related epilepsy and could be a strong baseline for future studies.

BACKGROUND AND PURPOSE: Highly predictive markers of drug treatment outcomes of tuberous sclerosis complex–related epilepsy are a key unmet clinical need. The objective of this study was to identify meaningful clinical and radiomic predictors of outcomes of epilepsy drug treatment in patients with tuberous sclerosis complex. MATERIALS AND METHODS: A total of 105 children with tuberous sclerosis complex–related epilepsy were enrolled in this retrospective study. The pretreatment baseline predictors that were used to predict drug treatment outcomes included patient demographic and clinical information, gene data, electroencephalogram data, and radiomic features that were extracted from pretreatment MR imaging scans. The Spearman correlation coefficient and least absolute shrinkage and selection operator were calculated to select the most relevant features for the drug treatment outcome to build a comprehensive model with radiomic and clinical features for clinical application. RESULTS: Four MR imaging–based radiomic features and 5 key clinical features were selected to predict the drug treatment outcome. Good discriminative performances were achieved in testing cohorts (area under the curve = 0.85, accuracy = 80.0%, sensitivity = 0.75, and specificity = 0.83) for the epilepsy drug treatment outcome. The model of radiomic and clinical features resulted in favorable calibration curves in all cohorts. CONCLUSIONS: Our results suggested that the radiomic and clinical features model may predict the epilepsy drug treatment outcome. Age of onset, infantile spasms, antiseizure medication numbers, epileptiform discharge in left parieto-occipital area of electroencephalography, and gene mutation type are the key clinical factors to predict the epilepsy drug treatment outcome. The texture and first-order statistic features are the most valuable radiomic features for predicting drug treatment outcomes.

Multi-contrast magnetic resonance imaging (MRI) is wildly applied to identify tuberous sclerosis complex (TSC) children in a clinic. In this work, a deep convolutional neural network with multi-contrast MRI is proposed to diagnose pediatric TSC. Firstly, by combining T2W and FLAIR images, a new synthesis modality named FLAIR₃ was created to enhance the contrast between TSC lesions and normal brain tissues. After that, a deep weighted fusion network (DWF-net) using a late fusion strategy is proposed to diagnose TSC children. In experiments, a total of 680 children were enrolled, including 331 healthy children and 349 TSC children. The experimental results indicate that FLAIR₃ successfully enhances the visibility of TSC lesions and improves the classification performance. Additionally, the proposed DWF-net delivers a superior classification performance compared to previous methods, achieving an AUC of 0.998 and an accuracy of 0.985. The proposed method has the potential to be a reliable computer-aided diagnostic tool for assisting radiologists in diagnosing TSC children.