This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Autism is a complex developmental disability that appears during the first three years of life. It is commonly defined as a neurological or brain disorder that affects a person's ability to communicate, form relationships with others, and respond appropriately to the environment. Autism spectrum disorders (ASD) have been estimated to occur in as many as 1 in 150 individuals. They are four times more common in boys than in girls but show no greater occurrence in any racial, ethnic, or social group. There is now strong evidence from twin and family studies for the importance of genetic factors in the development of autism, although it is also clear that these influences are complex. It is possible that alterations in the DNA code itself contribute to autism, and it is also possible that other types of changes, known as epigenetic factors, influence the levels of protein activity without changing the DNA code itself. Genetic and epigenetic changes can be inherited or spontaneous. The goal of the Simons Simplex Collection (SSC) is to learn more about the molecular basis of autism and related disorders. To do this, the SSC is creating a resource of blood samples and clinical information that researchers can study as they search for connections between genes and specific behaviors. Data will be collected through a multisite network across North America, of which Baylor College of Medicine (BCM) is currently one of 13 sites. The SSC will gather the following information and materials from individuals who appear to be affected with ASD and their family members: (a) blood samples and (b) clinical data, including medical, diagnostic, and family history information. The purpose of behavioral, clinical and limited genetic evaluation is to fully characterize repository samples and provide data that will be necessary for comprehensive analysis of repository samples in the future. The SSC will store biomaterials at the Rutgers University Cell and DNA Repository (RUCDR) in New Jersey. The SSC will store de-identified clinical information in an encrypted, password-protected form in a central database run by The Simons Foundation. The SSC will make these de-identified biomaterials and clinical data available to qualified researchers who want to study autism and related disorders. Any use of these materials will first be reviewed and approved by the Simons Foundation. HYPOTHESIS There are no specific hypotheses associated with this project. The goal of the SSC is to develop a repository of phenotypic and genotypic information that can be accessed by approved research teams.
SPECIFIC AIMS Aim 1. To recruit and enroll approximately 100 simplex probands with an ASD and their family members each year as participants in the SSC. These focal children, between ages 4 and 18 years, will be recruited through a variety of venues, including the Clinic for Autistic Spectrum Disorders (CASD) at Texas Children's Hospital (TCH);the Autism Treatment Network (ATN) at TCH;other clinics/departments at TCH that follow children with ASD, such as the Meyer Center for Developmental Pediatrics, neurology, genetics, and psychiatry;Texas Children's Pediatric Associates;the Interactive Autism Network;autism-support organizations in the greater Houston area;and public and private schools in greater Houston.
Aim 2. To provide precise, phenotypic characterization of participating focal children, including clinical diagnoses, cognitive and adaptive functioning indices, behavioral subtypes, and measures of language, and to make these data publicly available.
Aim 3. To collect blood samples from the focal children, sibling(s), and parents for DNA extraction. Lymphoblast cell lines will be generated from the DNA, and these data will be made publicly available.
Aim 4. To work with the SSC data management team to maintain a high quality, easily accessible, psychological, clinical, and biomedical database that can be queried in several ways.
Aim 5. To participate as a dysmorphology-collection site using the recently developed Autism Dysmorphology Measure to assess the presence or absence of generalized dysmorphology among focal children.
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