The Utah Autism Research Project is currently recruiting for the following studies:
Epidemiological Studies of ASD using the Utah Registry of Autism and Developmental Disorders (URADD)
URADD is a de-identified registry resource of information about individuals with ASD and their families. This resource is available for studies of ASD epidemiology, with approval by the University of Utah and the Utah Department of Health.
Funding: State of Utah
Principal Investigator: Deborah Bilder, MD
Gene-air Pollution Interactions for Autism Spectrum Disorder
In this study, we are investigating the relationship between ambient air pollution and ASD during fetal and neonatal development and identifying genetic variants involving the oxidative stress and/or pro-inflammatory pathways that moderate this relationship. Our study has two specific aims:
- Aim 1: to test the hypothesis that the relationship between ambient air pollution and ASD is moderated by familial risk;
- Aim 2: to test the hypothesis that genetic risk factors interact with air pollution to increase ASD risk.
The significance of this study is our use of an innovative, multi-sample approach to address a compelling question in ASD’s etiology. Because air pollution is a modifiable risk factor, the impact of elucidating gene-air pollution interactions will be to decrease ASD risk through clinical and public health interventions that reduce exposure to ambient air pollution in genetically-vulnerable mother/child dyads.
Funding: Primary Children's Hospital Foundation
Principal Investigator: Amanda V. Bakian, PhD
Co-investigators: Hilary Coon, PhD; Deborah Bilder, MD; Yue Zhang, PhD; Jim VanDerslice, PhD
Improving Neuroimaging of Difficult Populations: A Pilot Study of Young Children with ASD
The aims of the CCTS Pilot Project are to:
- Aim 1: develop motion tolerant seed-based rsfMRI mapping and analyses for high-speed multi-band rsfMRI research and clinical applications;
- Aim 2: compare conventional EPI-based rsfMRI methodology and analyses with high speed multi-band rsfMRI in typically developing children ages 3 to 4 to demonstrate reduced head motion artifact;
- Aim 3: apply high-speed multi-band rsfMRI during natural sleep to a group of 3-4 year old children with autism spectrum disorder as proof of principle and collect preliminary data with the intent to develop improved models of connectivity in children with ASD.
Funding: Utah Center for Clinical and Translational Science
Principal Investigator: Deborah Bilder, MD
Co-investigators: Steve Dager, MD; Satoshi, Stacy Manwaring, PhD; Satoshi Minoshima, MD, PhD
Multiplex/Extended Family Studies: Genetic studies of Autism Spectrum Disorder in extended, high-risk families
This study uses a resource unique to Utah: large, multi-generation families with more than one person in the family with Autism Spectrum Disorder. We are using these families to look for shared familial genetic variation that could lead to susceptibility to autism. The very large high-risk Utah families further magnify the ability to learn more about how genetic mutations occur in families. The families reveal genetic changes that are hard to find in small nuclear families because there is familial repetition of these inherited risk factors that magnifies the effect. We have already identified many extended families, but are continuing to add new ones. Testing involves blood draw (ages three and older), autism testing, brief language and IQ testing, and questionnaires.
Funding: National Institute of Mental Health
Principal Investigator: Hilary Coon, PhD
Prenatal Mechanisms and Biomarkers for Autism Spectrum Disorder
The aims of this study are to:
- Aim 1: to identify the maternal conditions associated with prenatal inflammation and/or steroid dysregulation in children with ASD;
- Aim 2: identify markers of inflammation and steroid dysregulation in maternal prenatal serum that are associated with ASD risk.
Funding: Neuroscience Initiative Collaborative Pilot Project Award
Co-Principal Investigators: Deborah Bilder, MD; Erin Clark, MD
Co-Investigators: Amanda Bakian, PhD; Sean Esplin, MD; Hilary Coon, PhD; Joey Straseski, PhD
Research in the Neurobehavior HOME Program
Research in the Neurobehavior HOME Program seeks to understand psychotropic medication use and monitoring in individuals with neurodevelopmental disorders. Our research also tries to understand genetic testing practices among children with autism spectrum disorder, case management in a patient population with neurodevelopmental disorders, and medical/psychiatric comorbidity among individuals with neurodevelopmental disabilities.
Research projects related to adult follow up for individuals with autism spectrum disorder include:
- Investigations regarding employment,
- psychiatric/medical comorbidity,
- mortality,
- and adult functioning.
Research in the underlying etiology of autism spectrum disorder includes:
- Epidemiology,
- prenatal/perinatal risk factors,
- fMRI imaging,
- and prenatal maternal serum analysis.
Our research teams partner with ASD imagining, neurobiology, and maternal fetal medicine researchers in the departments of obstetrics and gynecology, pediatrics, and neuroanatomy.
Utah Registry for Autism & Developmental Disabilities (URADD)
The Utah Registry for Autism and Developmental Disabilities (URADD) was established in 2002 in as a joint effort between the Utah Department of Health and the University of Utah Department of Psychiatry. URADD identifies children with a community-based diagnosis of ASD to track changes in autism prevalence in Utah over time, investigate the epidemiology of autism, inform public policy, and disseminate high quality research findings to Utah citizens. Learn more about URADD.
URADD data is used to look for clues about ASD’s causes. Our research group investigates the environmental, socioeconomic, demographic, prenatal, and obstetric risk factors associated with ASD as well as how the risk of ASD varies geographically across Utah. The information acquired from these studies is used to develop and refine hypotheses concerning ASD’s origins. Recent investigations include a study examining the spatial risk of ASD and the association of socioeconomic and demographic factors with ASD hotspots and an evaluation of the association between maternal weight gain during pregnancy and ASD.
Funding: State of Utah
Principal Investigator: Deborah Bilder, MD
Director: Amanda V. Bakian, PhD
Whole Genome Sequence (WGS) Studies: Combining WGS from Utah high-risk families and Simons Simplex families
This effort highlights a collaboration with experts in the Department of Human Genetics (Gabor Marth, PhD, and Aaron Quinlan, PhD) to combine two data resources and innovative analysis techniques. The first includes whole genome (WGS) from 540 carefully assessed families in the Simons Simplex Collection (SSC); each family has data from an affected and unaffected sibling and both parents. Second, the investigators will study genome sequence and other molecular data from the unique, high-risk very large Utah pedigrees that are also carefully assessed. The large number of cases in SSC will increase the chances of finding genetic changes. The extended families provide complementary unique information. The detailed assessment of behaviors and medical conditions in both family cohorts will reveal associations with specific aspects of ASD and/or with associated psychiatric or medical conditions.
Finally, the design may allow the discovery of genetic changes that are more frequent in unaffected siblings, which may reflect protective factors.
Funding: Simons Foundation
Co-Principal Investigators: Hilary Coon, PhD, and Gabor Marth, PhD
Other Collaborative Studies
Our Faculty page lists other University of Utah experts who collaborate with us on studies of ASD. Please see their individual web pages for more information on these studies.