Autism Research at the University of Utah Bill McMahon, M.D. Professor & Chairman Director, Autism Community Outreach Department of Psychiatry
Jan 11, 2016
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, [email protected]
- 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