Duke Center for Autism and Brain Development Exchange on Erwin 2608 Erwin Road, Suite 300 Durham, NC 27705 Hock Plaza 2424 Erwin Road, Suite 501 Durham, NC 27705 For Clinical Appointments: 919.681.7148 For Research Inquiries: 888.691.1062 [email protected] Website: www.autismcenter.duke.edu Director Geraldine Dawson, PhD William Cleland Distinguished Professor Department of Psychiatry and Behavioral Sciences Associate Director Nicole Heilbron, PhD Associate Professor Department of Psychiatry and Behavioral Sciences Associate Director Linmarie Sikich, MD Faculty Department of Psychiatry and Behavioral Sciences Duke Clinical Research Institute Director, Translational Research Yong-Hui Jiang, MD, PhD Professor Department of Medicine Division of Medical Genetics Director, Early Intervention Services Jill Howard, PhD Assistant Professor Department of Psychiatry and Behavioral Sciences Director of Operations Samantha Bowen, PhD Director, Data Management and Analysis Core Scott Compton, PhD Associate Professor Department of Psychiatry and Behavioral Sciences Director, Neurophysiology Laboratories Michael Murias, PhD Assistant Research Professor Duke Institute for Brain Sciences Liaison, Duke Pediatric Primary Care Jeffrey Baker, MD, PhD Professor Department of Pediatrics Duke Center for Autism and Brain Development Annual Report July 1, 2018 – June 30, 2019 Letter from the Director 5 Research Highlights 6 Searching for Genetic Clues 6 Using Brain Imaging to Assess the Effects of Novel Autism Treatments 8 Large, Rigorous Study Seeks to Identify Autism Biomarkers 10 The International Society for Autism Research (INSAR) Annual Meeting 13 Addressing Questions about Universal Screening for Autism 14 Using Technology to Improve Autism Screening 18 Duke Center for Autism Participates in DIBS Distinguished Lecture & Symposium 21 By the Numbers 22 Duke Center for Autism and Brain Development Highlights July 2018– June 2019 22 Clinical Services 24 Social Workers Provide Wide Range of Support 24 Transitioning to Adulthood 26 Training 28 Using Machine Learning to Help Our Understanding of Autism 28 Trainee Spotlight 32 Building Partnerships to Support Early Diagnosis and Intervention in Africa 34 Community 37 Challenging the Way People Think about ‘Normal’ 37 Duke Center for Autism Participates in DIBS Discovery Day 39 Duke Center for Autism Hosts “Music 2 the Max” Event 40 Duke Emergency Department Raises Funds for Duke Center for Autism 41 Dear Friends, When I was in graduate school, I was taught that autism could not be detected until a child was three years of age. We knew little about the causes of autism and had little to offer in terms of effective treatments. As I hope you will see from our annual report, we’ve made great strides in our understanding and treatment of autism. Advances in genetics are shedding light on the causes of autism and providing clues to its molecular basis. New brain imaging methods are providing a remarkably detailed picture of the dynamic and changing nature of the brain. We are part of a nationwide collaboration that is identifying biomarkers for autism so we can design better clinical trials and detect autism earlier. These biomarkers are being used to identify infants at risk for autism so that early behavioral intervention can be offered at the earliest age possible. We are taking advantage of new technologies, such as computer vision analysis, and combining them with data science and machine learning, to create novel tools for early detection that can be used in primary care. The Center’s research is addressing fundamental questions that directly impact policy and practice, such as how can we reduce disparities in access to diagnosis and treatment here in North Carolina and worldwide? While exciting research at the Duke Center for Autism continues to push the envelope in early detection and treatments for autism, the Duke Autism Clinic strives to meet families where they are today, whether that is getting a first-time diagnosis, developing peer relationships, or making a successful transition to high school. Using an interdisciplinary team approach, clinicians work to meet the needs of the whole child, including both behavioral and physical health needs. Working collaboratively with other providers throughout the Duke University Health System, our goal is an individualized, comprehensive, compassionate approach to clinical care. We adopt a lifespan perspective for each person we serve. Through the Center’s focus on neurodiversity, we support and celebrate the talents of adults on the spectrum whether that adult is a Duke undergraduate student, a Duke employee, or a young person being seen at our clinic who is preparing for the next step after high school. A major goal is to increase capacity for autism research and services through training. One of the most gratifying parts of my job is getting to know the wide range of trainees who help with our studies and provide clinical services. Whether the trainee is an undergraduate student who is still deciding what they want to do for their career or a medical resident who is honing their research or clinical skills, each one fills me with hope for the future. Their energy, talents, and commitment ensure that we will continue to make progress in meeting the needs of people with autism and their families. Finally, I want to thank the many people who partner with us and make a real difference. I hope you’ll enjoy reading about the 73-year-old father who is running 3,000 miles to raise money for autism research, the Duke Emergency Department employees who raised funds to support the Center, and the Canadian member of Parliament who challenged us to think differently about autism and other disabilities. These are just a few of the people who have donated their time and support to the Center’s efforts. Without their generosity, our work would not be possible. Warm regards, Geraldine Dawson, PhD Director Research Only two drugs are approved by the FDA to treat autism, and neither of them are designed to directly address the core symptoms of social challenges and repetitive behaviors. Searching for Genetic Clues he Center’s scientists and clinicians are Mutations in about 100 genes have been strongly addressing this unmet need in several ways. linked to autism, but there are likely many, many One way is to search for specific mutations more. One of the strongly linked mutations occurs in in the genes of children with autism, and to the SCN2A gene. It’s present in less than 1 percent of Tstudy how those mutations affect certain molecular people with autism, but even so, it’s still one of the pathways in the brain. most common mutations seen in people with autism, That’s the approach being taken by physician- who are a diverse group. scientist Yong-Hui Jiang, MD, PhD. “If you understand SCN2A is important in facilitating communication better why a mutation causes the autism you may be between brain cells. It regulates sodium channels, able to develop a novel treatment,” he says. which are the portals in brain cells that let in signals “I’m a clinical geneticist,” he says. “I see patients in the in the form of sodium ions. “If you are missing this clinic with neurodevelopmental disorders, and I channel or it has abnormal function, the neuronal try to help understand the cause and how to help activity will be affected,” Jiang says. The mutation is these patients.” also linked to a certain type of early onset epilepsy. In his clinic he might see a child with autism who has a mutation in a gene not previously linked to autism. Is that mutation causing the symptoms of autism? “You won’t be able to resolve this question very easily in the clinic so you need to take it back to the lab to see if you can produce the evidence,” he says. He combines genetics and neurobiology to try to untangle the ways in which mutations cause changes in brain development and behavior. About 20 percent of people with autism have an identifiable genetic mutation. There’s not a lot “If you are missing this channel of commonality among the mutations, however. or it has abnormal function, the neuronal activity will be affected.” Yong-Hui Jiang, MD, PhD 6 Duke Center for Autism and Brain Development Jiang says his research path encompasses three patients and see if the drug treatment can improve steps. The first step is to use cell cultures in the lab or correct abnormal behavior or function,” says to investigate whether cells with SCN2A mutations Jiang. There are a number of sodium-channel drugs have malfunctioning sodium channels. “In cell culture, already approved for other conditions, and Jiang and we did see the mutation affect the function,” he says. his group will start with these. If none of them works, “But because it’s a cellular model, it doesn’t reflect the they’ll try to develop a new treatment. complexity of behavior.” Jiang’s lab is investigating other autism-related That leads to step two, which is to introduce this genes as well, including SHANK 2, SHANK 3, and the mutation into mice and see whether it gives rise to Angelman syndrome gene. Eventually he hopes that some of the behaviors seen in people with autism, these studies of different mutations will illuminate such as repetitive behaviors and differences in social some shared mechanisms that can explain how interaction. Jiang and collaborators, Scott Soderling, disparate genetic mutations lead to similar results in PhD, and William Wetsel, PhD, are working on this the brain. step now. They have produced a line of mice carrying And if that’s the case, there’s a possibility that a single a mutation that mimics the mutation in humans. drug could prove helpful for people with a variety of They will soon start testing the behavior of these different genetic mutations.