TACERN: Tuberous Sclerosis Complex Autism Center of Excellence Research Network
Despite the high rate of autism and cognitive impairment in children with tuberous sclerosis complex (TSC), no studies have prospectively investigated the exact neural correlates or clinical predictors of neurodevelopmental disorders in TSC. To meet this need this project will identify biomarkers that can predict the subset of TSC children who develop ASD. A multi-center design will be used to establish a training and clinical research infrastructure through formal collaboration with local LEND programs at each participating center. This will merge expertise in tuberous sclerosis complex and autism spectrum disorder to benefit those with both TSC and ASD.
The Early Biomarkers of ASD project has four aims:
- Aim 1: To create an infrastructure for clinical treatment trials in TSC patients at risk for ASD;
- Aim 2: To characterize the developmental precursors of ASD in a large number of TSC infants using a prospective multi-center design;
- Aim 3: To identify biomarkers with advanced DTI that help predict development of ASD in TSC infants;
- Aim 4: To identify biomarkers with qEEG that help predict development of ASD in TSC infants.
Important Things to Know
- Tuberous sclerosis complex (TSC) is a genetic disorder that causes non-malignant tumors to form in many different organs, primarily in the brain, eyes, heart, kidney, skin and lungs.
- The aspects of TSC that most strongly impact quality of life are generally associated with the brain: seizures, developmental delay, intellectual disability and autism.
- The incidence and severity of the various aspects of TSC can vary widely between individuals
- Nearly 1 million people worldwide are estimated to have TSC, with approximately 50,000 in the United States.
- For more information visit www.tscstudy.com
Marian Williams, PhD, CHLA Project Lead
Mustafa Sahin, MD, Boston Children's Hospital
Darcy Krueger, MD, Cincinnati Children's Hospital