Studies of Autistic Patients: Gene Networks and Clinical Subtypes
| Status: | Terminated |
|---|---|
| Conditions: | Neurology, Psychiatric, Autism |
| Therapuetic Areas: | Neurology, Psychiatry / Psychology |
| Healthy: | No |
| Age Range: | 4 - 18 |
| Updated: | 4/5/2019 |
| Start Date: | March 17, 2010 |
| End Date: | September 24, 2013 |
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....
- 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....
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.
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
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
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
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