1. Autism Research at the University of Utah
Bill McMahon, M.D.
Professor & Chairman
Director, Autism Community Outreach
Department of Psychiatry

2. Types of Research
Epidemiology: How many cases, risk factors and where?
Causes: Environmental & Genetic
Mechanisms: Brain imaging and biology
Innovative treatments: tools and methods
Adulthood & Aging: What do we know?

3. CDC-ADDM Network: Utah vs 10 other sites

4. Gene-environment interactions
Complex Causes of ASD
Gene-environment interactions
Genetic risk factors
20-92% concordance in twins
Few common genetic variants, de novo mutations, copy number variants
Environmental risk factors
Medication and drug use
Infectious agents
Chemical exposures
Dietary factors
Advanced maternal/paternal age
Psychosocial stress
Present at birth
Critical window of susceptibility
Most of the studies conducted to identify environmental risk factors for ASD have used observational study designs with study findings reporting statistical associations. Causality between environmental exposures and risk of ASD has only been demonstrated in a few cases.

5. Gene-air pollution interactions for ASD
Amanda Bakian, Hilary Coon, Deborah Bilder

6. The Fetal Environment: Biomarkers in Serum
Deborah Bilder, Hilary Coon, Erin Clark, Sean Esplin, Amanda Bakian
Psychiatry, OB-GYN, URADD, UPDB, Dept. of Internal Medicine, Dept. of Pediatrics, Intermountain Healthcare.

7. Research in the Neurobehavior HOME Clinic: Multidisciplinary care across the lifespan
Antipsychotic medication usage, adherence, and prevalence of metabolic syndrome
Use of genetic testing in children diagnosed with ASD (Paul Carbone, leader)

8. Overview of Autism Spectrum Disorder Genetics Research
Hilary Coon, Department of Psychiatry
Autism Sequence Consortium grant funded by NIH: family DNA risk variants and clinical traits in Utah families
Psychiatric Genomics Consortium: gene variants across psychiatric disorders
Familial DNA sequence variants associated with ASD and high serotonin
ASD association with immune/autoimmune & GI disorders

9. Brain Imaging: Functional Connectivity as a Mechanism
Jeff Anderson
Department of Radiology

10. Functional Connectivity
Title
Authors
Functional MRI connectivity scans the brain every 1-2 seconds and finds brain regions with synchronized activity, creating a “wiring diagram” of the brain.
Courtesy Jeffrey S. Anderson MD PhD, University of Utah

11. Autism MRI Classifier Initial sample Replication sample
MRI can perform at 80-90% accuracy for an 8-minute brain scan, and should be much better with newer methods.
80 male participants (40 Autism, 40 Control)
21 participants (8 Autism, 13 Control)

12. Brain network development in autism Brandon A. Zielinski, MD, PhD
- or visit us at IMFAR
Inclusion Criteria:
- boys aged 5-12 years
- able to complete MRI brain scan and one day of behavioral testing
- we especially need normal (control) subjects, and all ethnic minorities
Developmental Network Neurobiology Lab
417 Wakara Way, Room 3114
University of Utah, SLC, 84108
ph: (801)

13. The social-emotional brain network is poorly developed in autism
Network volume is 8% of normal
Controls
MRI-based pictures of a brain network implicated in autism. This particular network enables normal social and emotional function, something we know is profoundly abnormal in autism.
Most of the front part of the brain is “wired up” together to form this network in normal controls (blue, middle and bottom panel), but in autism (red, top and bottom panel) this network is almost completely “offline”.
Both
red = autism, blue = controls. p = (FWE)
Zielinski, et al. PLoS One, 2012.

14. Using skin to grow stem cells from individuals with ASD
Alex Shcheglovitov
Department of Neurobiology & Anatomy;

15. Using stem cells to understand the biology of Autism
Shcheglovitov et al., Nature 2013
SHCHEGLOVITOV LAB
Department of Neurobiology and Anatomy
University of Utah
Recipient of IMFAR
2015 Slifka/Ritvo Innovation in Autism
Research Award

16. William (Bill) Jenson Professor of Educational Psychology
University of Utah
2015 Distinguished Innovation and Impact Award
Co-founded the Carmen B. Pingree Autism Center for Learning in 1978
Primary developer of the “Tough Kids” book series
Developed Superheroes: interactive video curriculum for social skills to children with ASD
Published 34 books, 40 chapters, more than 100 papers and has made more than 180 conference presentations
William (Bill) Jenson Professor of Educational Psychology 

17. Evaluating the Effectiveness of Videoconferencing as a Behavioral Consultation Medium
Aaron J. Fischer, PhD, BCBA-D
Educational Psychology
University of Utah

18. ADULTS WITH AUTISM SPECTRUM DISORDER UNDER GUARDIANSHIP
Natasha Naylor J.D. M.A., Hilary Coon Ph.D., Deborah Bilder M.D., Leslie Francis J.D., PhD., William McMahon M.D.
Adults with ASD with and without guardianship differ significantly
First study to investigate multiple characteristics of adults with ASD with and without guardianship

19. Autism and Aging: The Autism “Gap”, Bridge Building, and the Way Forward
Scott D. Wright PhD
(Gerontology Interdisciplinary Program)
Amy Maida Wadsworth B.S.
(Family and Consumer Studies - Graduate Student)

20. Self-Optimization Workshops - Kristina Cottle, Dept
Self-Optimization Workshops - Kristina Cottle, Dept. of Psychiatry, PhD Candidate, School Psychology
Model for interactive sharing of stories of success that we call Self-Optimization on The Spectrum
Interactive, informative workshops presented by and for adults on the autism spectrum and their adult family members
Enhances autonomy and self-advocacy by supporting adults who identify as on the autism spectrum
Model has been piloted through two workshops involving 70 participants
Elliot Francis
Co-Founder