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SPARK: Changing the Shape of Autism Research in Oregon and Beyond

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SPARK: Changing the Shape of Autism Research in Oregon and Beyond SPARK: Changing the Shape of Autism Research in Oregon and Beyond Principal Investigators: Dr. Eric Fombonne and Dr. Brian O'Roak Co-Investigator: Dr. Lark Huang-Storm Study Coordinator: Lily Pacheco, M.A. OHSU LEND Trainee: Kristina Headrick Definition of Autism Spectrum Disorder (ASD) a) Persistent deficits in social communication and social interaction across multiple contexts, such as deficits in using communication for social purposes and following rules of conversation. b) Restricted, repetitive patterns of behavior, interests, or activities (stereotyped or repetitive motor movements, insistence on sameness, inflexible adherence to routines, verbal and nonverbal behavior, highly restricted, fixated interests that are abnormal in intensity or focus, and hyperactivity to sensory input or unusual interests in sensory aspects of the environment). Brief History of Autism 1940’s: • Pioneers of autism Dr. Leo Kranner in the United States and Dr. Hans Asperger in Austria • At that time it was suspected that autism might be caused by “poor parenting,” which led to stigma associated with the disorder • Prevalence: range from 4-10/10,000 (0.1%-0.04%) • Considered to be rare Brief History of Autism (continued) 1980-90’s: • Broadened definition • Autism recognized in subjects with language and normal IQ • Broadening of the phenotype (spectrum) • New generation of reliable diagnostic instruments, use of diagnostic criteria Brief History of Autism (continued) 2000's: • Today, the central goals of autism research are to learn more about what causes autism and to develop treatments that can improve the quality of life for people living with the condition • Prevalence: 1 in 68 (1.5%), reported across all racial, ethnic, and socioeconomic groups • Increase likely due to change in diagnostic criteria + increased awareness • 4 times more common in boys than in girls Causes and Risk Factors: Environmental and Genetic • Most scientists agree that genes are one of the risk factors that can make a person more likely to develop ASD • Children who have a sibling with ASD are at a higher risk of also having ASD • ASD tends to occur more often in people who have certain genetic or chromosomal conditions, such as Fragile X syndrome • There is some evidence that the critical period for developing ASD occurs before, during, and immediately after birth • Children born to older parents are at greater risk for having ASD Genetic Overview • One copy of each gene inherited from each parent • Blueprints for creating all types of cells and tissues in the body • Determine physical (and some behavioral) characteristics • Human genome is ~20,000 working genes Genes and Autism • Strong genetic contribution: heritability studies • Identical twins (share exact same DNA)—concordance rate of autism ~90% (Colvert et al. 2015) • Siblings (share 50% DNA)—recurrence rate ~18-20% (Ozonoff et al. 2011) • No single “autism gene” – high level of “genetic heterogeneity” • Many “candidate genes” but few “known genes” • 2012: 6 genes, 2014: 27 genes, 2016: 50-60 mid-high confident autism risk genes identified • Estimated hundreds of risk genes for ASD • Past studies have been limited by their sample size to a few thousand at the very most. In order to dissect the heterogeneity of ASD We Need More Data! Funded by the Simons Foundation SPARK’s Mission: Speed up research and advance understanding of autism by recruiting 50,000 families nationally Takes about 20-30 minutes online Saliva collection kit shipped directly to your home Access to resources SPARK Clinical Site Network University of Washington University OHSU of Minnesota CADB Boston Rush Nationwide Children’s University Children’s CHOP UC Davis Thompson Cincinnati Kennedy Krieger Center University Children’s of Vanderbilt UCLA UNC Colorado University UCSD of Emory Mississippi Baylor University of ~20 trios per week Miami Who is eligible to join SPARK? The entire autism community that lives in the United States is invited to join this national autism research cohort Individuals with a professional diagnosis of autism (including an educational diagnosis) and their biological family members (bio mother, father, and up to one sibling) will be asked to share information about their medical and family history, as well as provide a DNA sample Benefits of registration There is no cost to participate. In appreciation of their participation, SPARK will provide up to two $25 gift cards to the individual with autism once the family has returned their saliva samples and completed some medical and family history information online SPARK will provide online support to families with webinars and information about autism and how to approach potential challenges in new and helpful ways by authorities in the field SPARK participants will have the opportunity to participate, now or in the future, in research studies on different facets of autism creating a community of research participants. Additionally, medically significant results will be communicated back to the family through a designated primary care physician or genetic counselor National SPARK Participants as of 1/12/2017 13,194 individuals with ASD consented to 35,240 total participants enrolled genetics • 65% registration completion rate • 1,334 dependent adults (10%) • 5,264 full trios consented to genetics • 976 independent adults (7%) • 11,059 children (83%) Family participants Number Complete Trios 5,264 Complete Quads 2,828 Simplex Families 10,161 Demographics Children Adults Multiplex Families 1,176 (N= 11,059) (N= 2,310) Male 8,846 (80%) 1,517 (66%) Female 2,213 (20%) 793 (34%) Age in years, mean (SD) 8.7 (4.1) 30.9 (11.8) Clinical Site ASD Trios Recruitment (up to 1/13/17) OHSU Recruitment Data as of 2/6/17 Accounts created 1,308 ASD participants consented to genetics 814 Potential trios 410 Completed trios (child + parent 1 + parent 2) 127 Oregon Washington Idaho Utah AK 559 94 28 69 9 OSHU SPARK Recruitment: Clinical and Community A. Clinical centers and points of service • OHSU/Doernbecher Clinics • Oregon Family to Family • University Center for Excellence is Developmental Disabilities (UCEDD) • Oregon Center for Children and Youth with Special Health Needs (OCCYSHN) B. Community partners • Oregon Pediatric Society (OPS) • Autism Society of Oregon (ASO) • Kaiser Permanente • Swindle's Resource Center • Portland State University (PSU) • University of Oregon (U of O) • NW Regional Education Service District (NWRESD) C. Under-represented communities • African American Health Collation – (AAHC) • NW Portland Area Indian Health Board – (NPAIHB) • Latino populations- working with an OHSU investigator studies to increase representation, Spanish speaking campaign will launch 2018 SPARK and Transition By taking part in SPARK: • Youth can be agents of change by participating in research • Youth exercise their ability to make their own choices because they have to opt in to agree to future studies • The participation of youth at transition ages may have influence on future research questions Questions? SPARK Contact Information Email: [email protected] or [email protected] Phone: (503) 974-6478 Website: www.sparkforautism.org/ohsu References www.autismspeaks.org www.cdc.gov www.sparkforautism.org/research www.spectrumnews.org A History of Autism: Conversations with the Pioneers by Adam Feinstein Webinar, Dr. Brian O'Roak, Accelerating pace of autism research Webinar, Dr. Eric Fombonne, Epidemiology of Autism.
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