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

About

Brief Summary

The purpose of this study is to characterize the developmental phenotype of ASD and ID and to identify biomarkers using advanced MRI methodology and electrophysiological biomarkers of synaptic function and connectivity predictive of ASD and ID presence and severity in patients with TSC. In addition, this study will be establishing infrastructure for the collection and storage of human bio-specimens, including genetic material, from TSC patients and their family members with ASD.

Study Type

Observational

Eligibility

Gender

All

Healthy Volunteers

Yes

Minimum Age

18 Months

Maximum Age

N/A

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: over 18 months 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.
For subjects involved in imaging biomarker assessment: contraindications to 3T MRI scanning, such as metal implants/non-compatible medical devices or medical conditions, including vagus nerve stimulator.
For subjects involved in EEG/ERP biomarker assessment: contraindications to EEG/ERP, such as uncooperative or destructive behaviors preventing lead placement or capture by ERP/VEP equipment. Under age 2 or above age 11 at the time of enrollment.
Unwilling or unable to comply with study procedures and assessments.

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