Studies of Autistic Patients: Gene Networks and Clinical Subtypes

Background: * Researchers who are studying autism spectrum disorders are interested in developing a collection of research samples from both children with autism and healthy individuals, some of whom may be related to the children with autism. * The genetic condition tuberous sclerosis, which can cause the growth of benign tumors in the brain and other parts of the body, is also linked with autism. Researchers have been able to determine the specific genetic mutations involved in tuberous sclerosis, and as a result are interested in studying the genetic information of children who have both tuberous sclerosis and autism, as well as tuberous sclerosis without autism. Objectives: \- To develop a collection of DNA samples from blood and skin samples taken from children with autism and/or tuberous sclerosis, as well as healthy volunteers. Eligibility: * Children between 4 to 18 years of age who have autism and/or tuberous sclerosis, or are healthy volunteers. * Some of the healthy volunteers will be siblings of children with autism. Design: * Participants will be screened with a medical history and a physical examination, and may also have a genetic evaluation. * Participants will provide a blood sample and a skin biopsy for further study. * No treatment will be provided as part of this protocol.

Sex

Male

Minimum age

4 Years

Maximum age

18 Years

* INCLUSION CRITERIA:

Autism Groups:

Meeting criteria for a diagnosis of autism, based on the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule, as well as clinical judgment.

Health Sibling and Typically Developing Group: Within 1.5 standard deviations from the mean on the cognitive test performed, and lower than the cutoff scores on the Autism Diagnostic Interview and Autism Diagnostic Observation Schedule, and not meeting criteria for any psychiatric disorder on interviews or questionnaires.

Tuberous Sclerosis Groups: Confirmed diagnosis of Tuberous Sclerosis

EXCLUSION CRITERIA:

Autism Groups:

Non-idiopathic autism (e.g. previously identified genetic abnormality associated with autism in that individual)

Typically Developing Group:

History of receiving a diagnosis or services for psychiatric or significant learning issues

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• BACKGROUNDLevitt P, Campbell DB. The genetic and neurobiologic compass points toward common signaling dysfunctions in autism spectrum disorders. J Clin Invest. 2009 Apr;119(4):747-54. doi: 10.1172/JCI37934. Epub 2009 Apr 1. PMID 19339766
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