Studies of Autistic Patients: Gene Networks and Clinical Subtypes

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Brief Title

Studies of Autistic Patients: Gene Networks and Clinical Subtypes

Official Title

Studies of Autistic Patients: Gene Networks and Clinical Subtypes

Brief Summary


        -  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.

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.

Study Type





* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Estimated Enrollment


Start Date

March 17, 2010

Completion Date

September 24, 2013

Eligibility 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

        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




4 Years - 18 Years

Accepts Healthy Volunteers

Accepts Healthy Volunteers


Owen M Rennert, M.D., , 

Location Countries

United States

Location Countries

United States

Administrative Informations



Organization ID


Secondary IDs


Study Sponsor

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Study Sponsor

Owen M Rennert, M.D., Principal Investigator, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Verification Date

September 24, 2013