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

UtahUtah

Complex Causes of ASD

Gene-environment interactions

Genetic risk factors o 20-92% concordance in twinso Few common genetic variants,

de novo mutations, copy number variants

Environmental risk factorso Medication and drug useo Infectious agentso Chemical exposureso Dietary factorso Advanced maternal/paternal ageo Psychosocial stress

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.

• Antipsychotic medication usage, adherence, and prevalence of metabolic syndrome

• Use of genetic testing in children diagnosed with ASD (Paul Carbone, leader)

Research in the Neurobehavior HOME Clinic: Multidisciplinary care

across the lifespan

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

TitleAuthors

TitleAuthors

Functional Connectivity

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

TitleAuthorsAutism MRI ClassifierReplication sampleInitial sample

• 80 male participants (40 Autism, 40 Control)

•21 participants (8 Autism, 13 Control)

MRI can perform at 80-90% accuracy for an 8-minute brain scan, and should be much better with newer methods.

Brain network development in autismBrandon A. Zielinski, MD, PhDautismresearch@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 Lab417 Wakara Way, Room 3114University of Utah, SLC, 84108

ph: (801)-585-9061

Autism

Controls

The social-emotional brain network is poorly developed in autism

Zielinski, et al. PLoS One, 2012.red = autism, blue = controls. p = 0.001 (FWE)

Network volume is 8% of normal

Both

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 LABwww.shcheglovitov.com

Department of Neurobiology and Anatomy University of Utah

Shcheglovitov et al., Nature 2013

Recipient of IMFAR2015 Slifka/Ritvo Innovation in Autism

Research Award

William (Bill)

JensonProfessor 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

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. 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 FrancisCo-Founder