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Studies of Autistic Patients: Gene Networks and Clinical Subtypes

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · 2010
ClinicalTrials.gov · Datasets · License: Public Domain · 2010
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autismfibroblastshealthy-volunteer
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.
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