Studies of Autistic Patients: Gene Networks and Clinical Subtypes

United States Department of Health and Human Services (HHS)

Status: Terminated

Conditions: Tuberous Sclerosis; Autism

Study type: Observational

Funder types: NIH

Identifiers

NCT01092208

100084

10-CH-0084

Details and patient eligibility

About

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.

Full 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.

Enrollment: 11 patients

Sex: Male

Ages: 4 to 18 years old

Volunteers: Accepts Healthy Volunteers

Inclusion and exclusion criteria

• 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