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Studies of Autistic Patients: Gene Networks and Clinical Subtypes

This study has been terminated.
Information provided by:
National Institutes of Health Clinical Center (CC) Identifier:
First received: March 23, 2010
Last updated: April 19, 2017
Last verified: September 24, 2013


  • 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.


- 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.


  • 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.


  • 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.

Tuberous Sclerosis

Study Type: Observational
Study Design: Time Perspective: Retrospective
Official Title: Studies of Autistic Patients: Gene Networks and Clinical Subtypes

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Enrollment: 11
Study Start Date: March 17, 2010
Estimated Study Completion Date: September 24, 2013
Detailed Description:
The aim of this protocol is to provide further elucidation of the clinical phenotype of autism, and second to characterize a potential cellular phenotype through the re-programming of fibroblasts into induced pluripotent stem cells (iPS cells). The scope of autistic spectrum disorders (ASD) is defined by its behavioral symptoms, encompassing a group of conditions that includes Asperger disorder, autism and pervasive developmental disorder-not otherwise specified (PDD). The clinical presentation of each of these diagnostic groups differs slightly, but all share three common features: deficits in social reciprocity, delays or deficits in communication (both verbal and non-verbal) and presence of repetitive behaviors and fixated interests. These symptoms are most pronounced in the autism group, so they will serve as the subjects for this pilot investigation. Individual differences in behavioral symptoms, genetic abnormalities, medical comorbidities and other risk factors will be assessed. These approaches will be coupled with computational approaches to identify neural networks by analysis of gene association study data, and analysis of gene databases to relate the diagnostic criteria of autism by unbiased analysis of the ontology of genes relevant to CNS function.

Ages Eligible for Study:   4 Years to 18 Years   (Child, Adult)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   Yes

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


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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Please refer to this study by its identifier: NCT01092208

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Principal Investigator: Owen M Rennert, M.D. Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
  More Information

Publications: Identifier: NCT01092208     History of Changes
Other Study ID Numbers: 100084
Study First Received: March 23, 2010
Last Updated: April 19, 2017

Keywords provided by National Institutes of Health Clinical Center (CC):
iPS Cells
Gene Networks
Tuberous Sclerosis
Healthy Volunteer

Additional relevant MeSH terms:
Tuberous Sclerosis
Pathologic Processes
Neoplasms, Multiple Primary
Neoplastic Syndromes, Hereditary
Malformations of Cortical Development, Group I
Malformations of Cortical Development
Nervous System Malformations
Nervous System Diseases
Neurocutaneous Syndromes
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Congenital Abnormalities
Genetic Diseases, Inborn processed this record on April 28, 2017