Studies of Autistic Patients: Gene Networks and Clinical Subtypes

2014-08-27 03:15:00 | BioPortfolio



- 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 7 to 15 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.


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 Design

Time Perspective: Retrospective




National Institutes of Health Clinical Center, 9000 Rockville Pike
United States




National Institutes of Health Clinical Center (CC)

Results (where available)

View Results


Published on BioPortfolio: 2014-08-27T03:15:00-0400

Clinical Trials [339 Associated Clinical Trials listed on BioPortfolio]

Study to Assess the Janssen Autism Knowledge Engine in Participants With Autism Spectrum Disorder and in a Normally Developing Cohort

The purpose of this study is to evaluate the utility of and to clinically validate the Autism Behavior Inventory (ABI) in measuring clinical symptoms of Autism Spectrum Disorder (ASD) comp...

Magnetic Resonance Imaging of Brain Development in Autism

The purpose of this study is to investigate brain development in autism by longitudinally assessing children with autism, as well as typically developing controls, using advanced MR techni...

A Trial of CM-AT in Children With Autism

The purpose of this study is to determine whether CM-AT is safe and effective in treating the core symptoms of autism.

Autism in Adult Patients and the Effects on Caregivers

Background: The number of adults with autism is expected to rise significantly in the near future, due to two main reasons: First, a dramatic increase in the estimates of the prevalence of...

The Role of Epigenetic Modifications in Autism Spectrum Disorder

Autism Spectrum Disorder is a neurodevelopmental disorder characterized by impaired social communication and repetitive or stereotyped behaviors. According to the World Health Organization...

PubMed Articles [591 Associated PubMed Articles listed on BioPortfolio]

Epilepsy and autism spectrum disorders in children.

The problem of epilepsy comorbidity with autism spectrum disorders in children is discussed. The incidence data of autism spectrum disorders in epilepsy, epileptiform discharges on the EEG in autism s...

The interaction of ozone and copy number variation on risk for autism: Does environmental exposure to nitrous oxide explain the interaction?

Stigma associated with autism among college students in Japan and the United States: An online training study.

Misconceptions and stigma associated with autism vary across cultures and may be influenced by various factors. Undergraduates in Japan (N = 212) and the United States (US) (N = 365) completed...

Cerebrospinal fluid vasopressin and symptom severity in children with autism.

Autism is a brain disorder characterized by social impairments. Progress in understanding autism has been hindered by difficulty in obtaining brain-relevant tissues [e.g., cerebrospinal fluid (CSF)] b...

A Survey of Knowledge and Beliefs regarding Autism in Speech-Language Pathologists in India.

Speech-language pathologists (SLPs) are significant team members in the identification, assessment, and rehabilitation of children with autism. With a recent upsurge in the number of children with aut...

Medical and Biotech [MESH] Definitions

A childhood disorder predominately affecting boys and similar to autism (AUTISTIC DISORDER). It is characterized by severe, sustained, clinically significant impairment of social interaction, and restricted repetitive and stereotyped patterns of behavior. In contrast to autism, there are no clinically significant delays in language or cognitive development. (From DSM-IV)

Wide continuum of associated cognitive and neurobehavioral disorders, including, but not limited to, three core-defining features: impairments in socialization, impairments in verbal and nonverbal communication, and restricted and repetitive patterns of behaviors. (from DSM-V)

Behavioral science applied with the aim of improving socially important issues such as behavior problems and learning. For individuals diagnosed with intellectual and developmental disabilities including AUTISM, techniques can be categorized as comprehensive or focused.

More From BioPortfolio on "Studies of Autistic Patients: Gene Networks and Clinical Subtypes"

Quick Search


Relevant Topics

Autism affects half a million people in the UK. Men are affected more than women. People with autism have said that the world, to them, is a mass of people, places and events which they struggle to make sense of, and which can cause them considerable a...

Pediatrics is the general medicine of childhood. Because of the developmental processes (psychological and physical) of childhood, the involvement of parents, and the social management of conditions at home and at school, pediatrics is a specialty. With ...

Neurology - Central Nervous System (CNS)
Alzheimer's Disease Anesthesia Anxiety Disorders Autism Bipolar Disorders Dementia Epilepsy Multiple Sclerosis (MS) Neurology Pain Parkinson's Disease Sleep Disorders Neurology is the branch of me...

Searches Linking to this Trial