The Broader Autism Phenotype in Tuberous Sclerosis Complex

Objective: Evaluate the broader autism phenotype in young children with Tuberous Sclerosis Complex (TSC). Background: Autism spectrum disorder (ASD) has been reported in approximately 50% of individuals with TSC. Detailed phenotyping of ASD through prospectively collected, validated standardized assessments, however, is lacking. Design/Methods: Children ages 0–36 months with TSC participated in the TSC Autism Center of Excellence Network. Children were evaluated longitudinally with Mullen Scales of Early Learning (MSEL), Vineland Adaptive Behavior Scales, 2 nd Edition, Survey Interview (VABS-II), and Preschool Language Scales, 5 th Edition (PLS-5). The Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) and Autism Diagnostic Interview-Revised (ADI-R) were administered at 24 and 36 months at which point a diagnosis of ASD or not ASD was assigned by expert clinical team. Analysis was performed to determine if phenotypic differences existed between ADOS-2 negative/ASD diagnosis negative (non-ASD), ADOS-2 positive/clinical ASD diagnosis negative (Mixed), and ADOS-2 positive/ASD diagnosis positive (ASD) groups. Results: As expected, the ASD group exhibited lower scores on all measures compared to the non-ASD group (p Conclusions: Autism specific characteristics may be present in young children with TSC that do not meet full criteria for ASD. In addition to ASD and non-ASD, a third diagnostic group with mixed features is distinguishable at 24 and 36 months of age. Study Supported by: This research was supported by the National Institute of Neurological Disorders and Stroke (NINDS) of the NIH (U01-NS082320, P20-NS080199), the Tuberous Sclerosis Alliance, the Developmental Synaptopathies Consortium (U54NS092090), which is a part of the NCATS Rare Diseases Clinical Research Network (RDCRN). RDCRN is an initiative of the Office of Rare Diseases Research (ORDR), National Center for Advancing Translational Sciences (NCATS), funded through collaboration between NCATS, National Institute of Mental Health, NINDS and National Institute of Child Health and Human Development (NICHD). The study utilized clinical research facilities and resources supported by the NCATS of the National Institutes of Health Grant (UL1-TR000077 and UL1-TR000124). Disclosure: Dr. Capal has nothing to disclose. Dr. Horn has nothing to disclose. Dr. Kent has nothing to disclose. Dr. Byars has nothing to disclose. Dr. Bing has nothing to disclose. Dr. Pearson has received research support from Curemark, LLC, Biomarin. Dr. Sahin has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with SAGE Therapeutics for serving on scientific advisory board. Dr. Sahin has received personal compensation in an editorial capacity for Associate Editor for Pediatric Neurology. Dr. Sahin has received research support from Novartis, LAM Therapeutics, Roche, Pfizer. Dr. Krueger has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Novartis Pharmaceuticals Corporation, Advanced Medical. Dr. Krueger has received research support from Novartis Pharmaceuticals Corporation.