Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)

Tuberous Sclerosis Complex (TSC) is a multi-system disease that usually exhibits a high
variability in clinical findings both among and within families. About 50% of individuals
with TSC develop intellectual disability (ID) and/or autism spectrum disorder (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 so that ultimately
effective treatments and interventions for ASD/ID can be realized.

Individuals with TSC will be asked to participate in this study if they are between the ages
of 3 and 21 years old and have been diagnosed with suspected or confirmed autism spectrum
disorder and/or intellectual disability. Both males and females will be asked to participate.
Additionally, to be eligible for study participation, individuals' primary communicative
language must be English. Also, the participant and at least one biological parent will be
asked to provide biological specimens including DNA and RNA for inclusion in the TSC RDCRN
Biorepository.

The study involves 5 visits (3 on site visits) over the course of two years. Study visits
will vary in length from about 4 hours to 6 hours. Study visits involve a physical exam,
medical history questions and neuropsychological assessments. Blood will be drawn during the
baseline visit for DNA and RNA studies. Individuals with TSC have annual MRI scans as
clinically indicated. The clinical scan will be extended for 15 minutes as part of this
study.

Inclusion Criteria:

- Meets genetic or clinical diagnostic criteria for TSC (Tuberous Sclerosis), the latter
based on current recommendations for diagnostic evaluation, such as physical exam,
neuroimaging, and echocardiogram.

- Age criteria: 3 years - 21 years of age at time of enrollment.

- Is diagnosed or suspected to have ASD and/or ID.

- Primary communicative language is English

Exclusion Criteria:

- Has taken an investigational drug as part of another research study, within 30 days
prior to study enrollment.

- History of major brain trauma or surgery, including SEGA resection or epilepsy surgery

- Contraindications to 3T MRI scanning, such as metal implants/non-compatible medical
devices or medical conditions, including vagus nerve stimulator.

- History of systemic (oral or intravenous) treatment with mTOR inhibitors, such as
everolimus or sirolimus. Topical treatment with mTOR inhibitors is permitted.