The goal of this research study is to learn more about children and young adults who have tuberous sclerosis complex (TSC) with autism spectrum disorder (ASD), TSC with intellectual disability (ID) or TSC with both. People with TSC have a higher chance of getting ASD, also called autism, as well as ID. Researchers in this study are trying to find earlier signs of autism and ID and gain a better understanding of ASD/ID in individuals with TSC so that effective treatments and interventions for ASD/ID can be found.
For Diseases: Tuberous Sclerosis Complex, Autism Spectrum Disorder, Intellectual Disability
TSC is a multi-system disease that can present in many different ways both among and within families. About 50% of individuals with TSC develop ID and/or ASD. The purpose of this research study is to learn more information about ASD/ID in individuals with TSC through neurobehavioral assessments and magnetic resonance imaging (MRI) so that new and effective treatments and interventions for ASD/ID can be discovered.
About this Study
This is a longitudinal study of 205 individuals with TSC and ASD/ID. Individuals with TSC will be asked to participate in this study if they are over 18 months of age at the time of enrollment and have been diagnosed with suspected or confirmed ASD and/or ID. Both males and females will be asked to participate. To be eligible for study participation, individuals’ primary language must be English or Spanish. Additionally, the subject and at least one biological parent must be willing to provide a blood sample for the TSC biorepository. Virtual visits are an option.
The study involves 3 visits over the course of two years. Study visits will vary in length, lasting from about 4 hours to 6 hours. Study visits involve a physical exam, medical history questions and neuropsychological assessments. There will also be a blood draw at one time point during the study. Individuals with TSC have annual MRI scans as clinically indicated. The clinical scan will be 15 minutes longer as part of this study. If individuals have a clinically indicated procedure (i.e. MRI, EEG, etc.) performed, they will be asked to share their medical records and to optionally share brain MR images.
This study is taking place at 6 institutions throughout the country: Boston Children's Hospital, Cincinnati Children’s Hospital Medical Center, University of Alabama at Birmingham, University of Texas at Houston, University of California at Los Angeles, and Stanford University Medical Center.
To be eligible to participate, you must meet the following criteria:
- Have a confirmed diagnosis of TSC
- Have a confirmed or suspected diagnosis of ASD and/or ID.
- Over 18 months of age at time of enrollment
- Primary language is English or Spanish
- Participant and at least one biological parent must be willing to provide blood sample
You are not eligible to participate if:
- Taken an investigational drug as part of another research study within the last 30 days of study enrollment.
- Metal implants/non-compatible medical devices or medical conditions, including vagus nerve stimulator that may cause problems with MRI scanning.
- Unwilling or unable to comply with study procedures or assessments.
How to participate:
If you are interested in participating in this research or would like to learn more about it, please contact Emine Arcasoy at Emine.Arcasoy@childrens.harvard.edu