Track topics on Twitter Track topics that are important to you
- 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.
Time Perspective: Retrospective
National Institutes of Health Clinical Center, 9000 Rockville Pike
National Institutes of Health Clinical Center (CC)
Published on BioPortfolio: 2014-08-27T03:15:00-0400
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...
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...
The purpose of this study is to determine whether CM-AT is safe and effective in treating the core symptoms of autism.
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...
Autism Spectrum Disorder is a neurodevelopmental disorder characterized by impaired social communication and repetitive or stereotyped behaviors. According to the World Health Organization...
Autism is a childhood neurological disorder with poorly understood etiology and pathology. This study is designed to identify differentially expressed proteins which might serve as potential biomarker...
Autism spectrum disorder is a lifelong neurodevelopmental disorder, characterized by social interaction and communication impairments, accompanied by repetitive behaviors. Little is known about the ca...
Historiographies on the phenomenon of "autism" display Leo Kanner and Hans Asperger as the great pioneers. The recent controversy on who was first in "discovering" autism urges research into the quest...
Sensory sensitivity peculiarities represent an important characteristic of Autism Spectrum Disorders (ASD). We first validated a French language version of the Glasgow Sensory Questionnaire (GSQ) (Rob...
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.
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...