Detailed contribution information
| Contribution title | 3006 - The Association Between Brain Pathology and Autism Severity in Children with Tuberous Sclerosis Complex |
|---|---|
| Contribution code | PS03-02 (P) |
| Authors | |
| Form of presentation | Poster |
| Topic |
|
| Abstract |
Introduction Tuberous Sclerosis Complex (TSC) is an autosomal dominant disorder characterized by brain pathology, such as cortical tubers and increased prevalence rates of autism spectrum disorders (ASD). Many children with TSC are intellectually impaired. Within the context of ENCORE, Expertise Center for Hereditary Neuro-Cognitive Developmental Disorders, neuroscientists and medical disciplines, such as pediatrics, neurologists, psychologists, and child and adolescent psychiatrists, join forces in the multidisciplinary care of these children and exploring new treatment options. Objective Previous studies have suggested that cortical tubers are an important predictor for an ASD diagnosis in children with TSC. The objective of this study is to explore the association between the severity of ASD symptoms and the number and the location of cortical tubers in children with TSC, and the role the intellectual functioning plays in this relation. To date, no studies have investigated this association, including the role of IQ, has been insufficiently studied. Methods In a group of 52 TSC patients (24 boys, 0-17 years old) data regarding intelligence and ASD severity, using the Autism Diagnostic Observation Schedule (ADOS) were available. Tuber count and location were manually recorded, using FLAIR or T2-weighted images from a 1.5T Siemens scanner (MRI). Regression and mediation analyses were performed. Results There was a strong relation between the total number of tubers and the overall severity of ASD (β=0.46, p<0.001), specifically the severity of restricted and repetitive behavior (β=0.49, p<0.001) and social affect problems (β=0.37, p=0.008). With adding IQ to the analyses, only the total number of tubers (β=0.29, p=0.046) and the number of tubers in the frontal lobe (β=0.30, p=0.042) significantly related to the severity of restricted and repetitive behavior. Conclusion This is the first study to use a continuous ASD severity score, assessing two ASD domains. Children suffering from TSC with more cortical tubers show more severe ASD symptoms. Their IQ is an important explanatory factor in this relation. Irrespective of IQ, children with more frontal tubers show more severe restricted and repetitive behavior. This shows that IQ is an important confounding/explanatory factor in this association. Our study emphasizes the importance of IQ, as well as the relevance of separately researching problems in social communication/interaction and repetitive behavior. |