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

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?

CDC-ADDM Network: Utah vs 10 other sites

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.

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

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.

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)

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

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

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

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)

Brain network development in autism Brandon A. Zielinski, MD, PhD autismresearch@hsc.utah.edu - or visit us at IMFAR 2015 - 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)-585-9061

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 = 0.001 (FWE) Zielinski, et al. PLoS One, 2012.

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

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

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 

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

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

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)

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