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Studies of Autistic Patients: Gene Networks and Clinical Subtypes

4 Years
18 Years
Not Enrolling
Autism, Tuberous Sclerosis

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Trial Information

Studies of Autistic Patients: Gene Networks and Clinical Subtypes

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.

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

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

Type of Study:


Study Design:

Time Perspective: Retrospective

Principal Investigator

Owen M Rennert, M.D.

Investigator Role:

Principal Investigator

Investigator Affiliation:

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


United States: Federal Government

Study ID:




Start Date:

March 2010

Completion Date:

Related Keywords:

  • Autism
  • Tuberous Sclerosis
  • Autism
  • iPS Cells
  • Fibroblasts
  • Gene Networks
  • Tuberous Sclerosis
  • Healthy Volunteer
  • HV
  • Autistic Disorder
  • Sclerosis
  • Tuberous Sclerosis



National Institutes of Health Clinical Center, 9000 Rockville PikeBethesda, Maryland  20892