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 autismand 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. mice and evaluating the function of their brain cells While that possibility is still far down the road, Jiang, by measuring electrical current in their brains. Soderling, and Wetsel are doing the type of research The third step will be to see whether drugs that necessary to get there. They keep the long game in modulate the function of sodium channels have mind—their desire to use genetics and neurobiology any effect on the abnormal sodium channels and to help patients and their families. behaviors in the mice. “You treat the mice like human
Eventually researchers at the Center hope that these studies of different mutations will illuminate some shared mechanisms that can explain how disparate genetic mutations lead to similar results in the brain. This could pave the way for new treatments.
Annual Report 2019 7 Research
Using Brain Imaging to Assess the Effects of Novel Autism Treatments
hildren with autism who participated in the Center’s first study to evaluate the efficacy of treatment with umbilical cord blood experienced improvements in language and Csocial functioning six months after treatment. Were those improvements associated with changes in the brain? That’s the question neurobiologist Kimberly Carpenter, PhD, set out to answer. Carpenter, assistant professor of psychiatry and behavioral sciences, is an expert on both brain imaging and autism. She analyzed brain images based on magnetic resonance imaging (MRI) of children who participated in the study several years ago of umbilical cord blood as a treatment for autism. The small study led by Joanne Kurtzberg, MD, and Geraldine Dawson, PhD involved 25 children with autism who all received infusions of their own cord blood, which had been banked at birth. Working closely with Allen Song, PhD, Carpenter compared the before-and-after MRIs of 19 children whose images were complete enough for the analysis. Song directs Duke’s Brain Imaging and Analysis Center and was responsible for collecting Above: MRI brain connections in the temporal lobe that and processing the images. improved after treatment. “Our part of the study was looking at whether there were any changes in brain connectivity,” Carpenter says. “The idea is that cord blood might work by dampening neuroinflammation in the brain, and that might facilitate brain development in a way that supports behavioral change.” Specifically, she was looking for increased connectivity in the white matter, which she calls the “information highway of the brain.” To measure connectivity, Song and Carpenter used “The idea is that cord blood a technique called diffusion tensor imaging or DTI. might work by dampening “DTI uses information about water movement in the neuroinflammation in the brain, brain to tell you about the organization of the white and that might facilitate brain matter,” she explains. “By using the flow of water, you get an idea of where information is traveling in the development in a way that supports behavioral change.”
Kimberly Carpenter, PhD
8 Duke Center for Autism and Brain Development brain, how well it is traveling, and how connected the regions of the brain are.” Indeed, for children who showed improvements in language, she found increased connectivity in the white matter in areas Allen Song, PhD of the brain that support language, including parts of the left temporal lobe. And in children who showed improvements in social engagement, she found increased connectivity in the areas that Above: MRI brain tractography in a child with autism support social interaction, including the superior temporal sulcus, which is responsible for interpreting Dawson, PhD, and Jessica Sun, MD, have finished facial expressions. Furthermore, the more gathering data in a study of 180 participants, and improvement the child experienced, the greater the are beginning to analyze it. Half of the participants increase in connectivity. received cord blood during the first treatment and “The fiber count increased and there was more half received a placebo infusion. Six months later, structural integrity,” Carpenter says. “To keep with the groups switched. The study was double-blind, the highway metaphor, we saw more lanes, so there meaning neither researchers nor families knew were more places for information to travel.” the sequence of treatments for any particular child. To Carpenter, the results were striking because they The results were not “unblinded” until after all the were just what she expected. That doesn’t always assessments had been performed, including clinical happen in scientific research. “It’s so satisfying,” she and parental observation, vocabulary tests, EEGs, says, “and it made me believe in the data.” eye-tracking tests, and MRIs. Because all the children received the treatment and Carpenter and Song will be analyzing these brain there was no control group, it’s impossible to know images as well. If the correlations between behavior whether the improvements were a result of the cord and brain connectivity are as clear as before, it could blood. The purpose of the study was to establish the mean this type of MRI analysis could be used to safety of the treatment and investigate its potential measure the effectiveness of medicines or behavioral for further research. “It’s a very preliminary study treatments for autism in future clinical trials. with exciting results,” Carpenter says. “There were definite changes in the brain that correlate with Carpenter, K., Major, S., Tallman, C., Chen, L., Franz, L., Sun, improvements in behavior, but what caused those J., Kurtzberg, J., Song, A., and Dawson, G. (2019). White improvements the next trial will show.” matter tract changes associated with clinical improvement in an open-label trial assessing autologous umbilical cord And the next trial is well underway. Center blood for treatment of young children with autism. Stem Cells researchers, led by Joanne Kurtzberg, MD, Geraldine Translational Medicine.
To Carpenter, the results were striking because they were just what she expected. That doesn’t always happen in scientific research. “It’s so satisfying,” she says, “and it made me believe in the data.”
Annual Report 2019 9 Research
Large, Rigorous Study Seeks to Identify Autism Biomarkers
Families from across the US participated in the NIH Autism Biomarkers Consortium. Shown (from left to right) are Dr. Jill Howard; a participant and his family; Laura Nations, a clinician on the study; and Lori Reinhart-Mercer, the study coordinator.
or many medical conditions, it’s relatively investigators are taking is to establish replicable and straightforward to measure whether quantifiable indices, or “biomarkers,” that can be used a person with the condition is getting to track improvements in brain function and attention better after receiving a treatment. Autism, that are related to clinical improvement. Such Fhowever, is by its very nature difficult to define or biomarkers also might make it possible to identify measure. Symptoms vary widely across people and those people most likely to benefit from a particular at different ages. Yet developing ways to quantify treatment. clinical outcomes in people with autism is critical for As part of this effort, the Center is participating evaluating novel treatments. in a multisite study called the Autism Biomarkers In collaboration with investigators nationwide, Consortium for Clinical Trials, or ABC-CT. In addition researchers at the Duke Center for Autism and Brain to Duke, the other participating universities are Yale, Development have been studying ways to reliably Harvard, UCLA, and the University of Washington. measure outcomes that could be used in autism The study is focusing on several potential biomarkers clinical trials. that measure attention via eye-tracking, and brain Autism affects how the brain functions and how a activity via electroencephalography (EEG). person processes information, especially information Almost 400 children with autism or typical relating to the social world. The approach the Center development, ages 6-11 years, are being assessed
10 Duke Center for Autism and Brain Development at three timepoints: baseline, baseline plus 6 weeks, agencies. And the group is working closely with the and baseline plus 6 months. At each visit, they FDA to ensure that its findings will indeed be useful are evaluated in myriad ways, including clinical for clinical trials. “We are such a diverse group of observation and parental questionnaires in addition stakeholders,” McPartland says. “There are a lot to eye-tracking and EEG assessments. of brains and a lot of discussion going into all the James McPartland, PhD, associate professor of decisions we make.” child psychiatry and child psychology at Yale, is the The potential biomarkers being investigated relate to principal investigator of the study. “The scientific children’s social communicative function. For example, benefit of these kinds of biomarkers is having more researchers use eye-tracking to see how much sensitive, more objective, and more scalable tools attention children pay to key social features, such as to use in clinical trials to measure whether a drug a person’s eyes, while watching videos of people or behavioral treatment is working,” he says. “The and objects. practical benefit is we broaden investment in clinical Another promising candidate is a brain signal related trials in autism. For a disorder as prevalent as autism, to the ability to process information about people’s there is a relative scarcity of pharma company faces. Called the N170, it’s a signature pattern in the investment in drug discovery.” EEG signal that occurs about 170 milliseconds after ABC-CT, funded by the National Institutes of Health, a person sees a face. “It’s the insignia that the brain also includes representatives from government is recognizing a face as a face,” says McPartland. In
Samantha Major, MHSc, shows an electrode net to a child before an EEG.
In collaboration with investigators nationwide, scientists at the Duke Center for Autism and Brain Development have been studying ways to reliably measure outcomes that could be used in autism clinical trials.
Annual Report 2019 11 Research
Duke hosted the annual meeting of the Autism Biomarkers Consortium investigators. Shown (left to right) are Sara Webb, PhD, Univ. of Washington; James McPartland, PhD, Yale; Geraldine Dawson, PhD, Duke; William Potter, MD, PhD, NIMH; Ann Wagner, PhD, NIMH; Fred Shic, PhD, Univ. of Washington; and Alice Kau, PhD, NICHD.
neurotypical people, the time lapse is about 170 “It’s designed like a treatment study without any milliseconds. For those on the autism spectrum it’s 10 treatment,” says Samantha Major, MHSc, who to 20 percent slower, a discovery published in 2004 by oversees the EEG and eye-tracking labs at the Duke McPartland and Geraldine Dawson, PhD, the director Center for Autism. of Duke’s Center for Autism and Brain Development. Major and her team conduct each EEG or eye N170 varies from person to person, which highlights tracking assessment exactly the same way—or as another possible benefit of biomarkers—the ability close to the same as possible when working with to target treatment. In a hypothetical example, children. They fill out a detailed and time-stamped those with the slowest N170 might benefit from a log of each assessment to indicate if anything treatment that wouldn’t help those with a faster unusual happened, such as if the child was restless N170, or vice versa. or pulled on the net of electrodes midway through. Any useful biomarker needs to come with data about “I interact with the children to collect the highest how that characteristic might change over time in the quality data I can,” she says. absence of treatment. That’s why each child in the The N170 appears to be an especially reliable ABC-CT study is assessed at three timepoints. biomarker. It was accepted into the FDA’s Biomarker Because the study is intended to produce tools that Qualification Program, which means that the FDA can be used in clinical trials, it’s run like a clinical trial. deemed it promising enough to undergo the FDA Every single aspect is rigorously standardized. The review for qualification. Further data analysis will five sites have the same equipment, calibrated the assess whether the biomarker is reliable and linked to same way, and everyone performing the assessments clinical improvement. has the same training and is monitored to ensure McPartland and the rest of the investigative team are consistency. Every timepoint consists of two visits, excited for this part of the process. “We’re on the cusp and everything that happens in those two visits of having a big complete dataset that we can really happens in the same order each time. make some important discoveries with,” he says.
12 Duke Center for Autism and Brain Development The International Society for Autism Research (INSAR) Annual Meeting
he International Society for Autism Research (INSAR) is T a scientific and professional organization whose mission is “to improve the lives of people affected by autism by promoting the highest quality research.” INSAR’s Annual Meeting gives ASD researchers and trainees from around the world the opportunity to exchange and disseminate new scientific findings. Duke Center for Autism investigators and trainees were actively involved in this year’s meeting, and Dr. Dawson also served in the role of INSAR Past President. Duke students and faculty share their results at the 2019 INSAR meeting. Top (left to right) – Jordan Hashemi, PhD, Dmitry Isaev, Steven Espinosa, Geraldine Dawson, PhD, David Carlson, PhD, and Guillermo Sapiro, PhD. Bottom (left to right) Kevin Ramseur, MS, Jill Howard, PhD, and Geraldine Dawson, PhD.
# of 2019 INSAR posters and presentations for which Duke Center for Autism faculty and staff were authors 33 Annual Report 2019 13 Research
Addressing Questions about Universal Screening for Autism
Should pediatricians screen all toddlers for autism?
he American Academy of Pediatrics says yes, recommending that all toddlers be screened for autism at 18-month and 24-month well- child visits. But the U.S. Preventive Services TTask Force maintains there are too many unanswered questions about the benefits and burdens of universal screening. How many typically developing children are unnecessarily referred for further evaluation, creating worry for families and costing time and money? Does the screening tool work equally well for families from different socioeconomic or ethnic groups? And how many children on the autism spectrum do the current screening approaches miss? These are critical questions that Geraldine Dawson, PhD, Scott Kollins, PhD, Eliana Perrin, MD and other Center faculty are addressing through a large NIH- funded study being conducted in Duke primary care. “Universal screening that is uniformly administered with high fidelity and high integrity is really important,” says Scott Kollins, PhD. “We know that if you get early intervention for autism, it improves outcomes. Every month that goes by without diagnosis, you’re missing opportunities to get started on intervention and to work on language and social skills.” The Center aims to address the questions raised by the Task Force as part of a large study, called A+. The A+ Study, funded by a $12.5 million Autism Centers of Excellence “Every month that goes by (ACE) grant from the National Institutes of Health, is led by Dawson and Kollins. The study focused on autism without diagnosis, you’re missing screening is enrolling and following thousands of opportunities to get started toddlers who are patients in the Duke Health system on intervention and to work on to study how well current screening approaches work language and social skills.” for detecting autism and related disorders, including attention-deficit/hyperactivity disorder. Scott Kollins, PhD
14 Duke Center for Autism and Brain Development The Duke Autism Center of Excellence research program focuses on early detection and new treatments for autism and ADHD, two conditions that often co-occur.
All A+ study participants are screened for autism at 18 or 24 months and again at three years of age. The screening tool is a parent questionnaire called the M-CHAT, which consists of 20 questions such as, “If you point at something across the room, does your child look at it?”
Annual Report 2019 15 Research
The Duke Autism Center for Excellence research program faculty and staff meet annually with an advisory board comprised of autism and ADHD experts and parents of children with autism.
“Our design for the study is really well positioned to address and answer these questions,” says Kollins, who co-directs the ACE research program with Geraldine Dawson, PhD. All A+ Study participants are screened for autism at 18 or 24 months and again at three years of age. The screening tool is a parent questionnaire called the M-CHAT, which consists of 20 questions such as, “If you point at something across the room, does your child look at it?” and “Does your child play pretend or make-believe?” Certain responses trigger follow-up “I let the study team know how questions. they can conduct the study Because all the children are re-screened at three years of age, the study will be able to quantify how without burdening the clinical many children on the autism spectrum were missed staff, and I share with our faculty by the first screening. why they and their patients may With additional funding from the National Institute benefit from the study.” of Child Health and Human Development (NICHHD), Eliana Perrin, MD, MPH
16 Duke Center for Autism and Brain Development the A+ Study will also address other concerns raised by the Task Force. The investigators are examining whether the socioeconomic status, ethnicity, and other characteristics of the family affect the performance of the M-CHAT. They are also collecting information about the experience from the family’s point of view. Dawson explains, “We want to better understand whether families experience screening as burdensome, and how to improve the process if they do.” As the parent of a child with both autism and ADHD, Kollins has experienced the ups and downs of screening and diagnosis firsthand. “The benefits far outweigh the risks from this parent’s experience,” he says. The study will illuminate how parents from a wide variety of backgrounds experience the screening, primary care physicians in facilitating the research in a which is important because it could affect how they busy clinical setting. respond to the results of the test, including whether they decide to pursue further testing and treatment. “I let the study team know how they can conduct the study without burdening the clinical staff, and Over the course of the five-year study, several I share with our faculty why they and their patients thousand children who are patients at Duke will may benefit from the study,” Perrin says. “I want this participate. In a project this big, success depends project to go well not just for the Duke Center for on working closely with the pediatricians to make Autism but for our division—and, most importantly, sure the screenings go smoothly in the clinics. Duke for our patients and learners who are in clinic.” pediatricians already screen all toddlers for autism, but data for the study have to be collected according If all continues to go well, the Center should have data to a particular protocol. It’s also crucial that the to answer the Task Force’s questions in several years. needs of the project don’t disrupt the clinics’ ability to Ultimately, the goal of this large project is to provide provide high quality care to patients and education more definite answers to how best to screen for to trainees. Eliana Perrin, MD, MPH, professor of autism and other neurodevelopmental disorders, pediatrics and chief of the Division of Primary Care such as ADHD. The hope is that improved screening in the Department of Pediatrics, is a co-investigator will reduce disparities in access to early diagnosis and in the study and plays a key role along with other intervention and improve long-term outcomes.
As the parent of a child with both autism and ADHD, Kollins has experienced the ups and downs of screening and diagnosis firsthand. “The benefits far outweigh the risks from this parent’s experience,” he says.
Annual Report 2019 17 Research
Using Technology to Improve Autism Screening
lthough autism can be diagnosed by 18 months, the average age of diagnosis in the United States is four years. Early interventions have been shown to help Achildren with autism reach their full potential, so we’re working hard to shrink that gap. One major barrier is the lack of feasible, scalable, and objective autism screening tools that rely on direct observation of the child’s behavior. Current screening methods rely on parent report and don’t work as effectively with parents who have lower levels of literacy or don’t understand the questions being asked. Research suggests that many children are missed. shows someone singing nursery rhymes, which elicits At the Center, researchers are harnessing advances in smiles from typically developing toddlers. technology to address the issue. Engineer Guillermo The current version is being tested in Duke pediatric Sapiro, PhD, and Center Director Geraldine Dawson, primary care clinics. The screening tool is being used PhD, have brought together their shared knowledge to during a child’s 18-month old well-child visit and will create a digital screening tool that parents, caregivers, be compared to an autism screening questionnaire and clinicians could use to screen toddlers and young that is now used by most physicians. Sapiro and children. If the test indicated the child was at risk for Dawson hope that the screening tool will be more autism, parents and clinicians would arrange for a accurate. It may also be more accessible for parents more thorough evaluation. who might struggle to understand and fill out a The screening tool has been through several iterations questionnaire. in the last few years. The Duke team is working on In addition to its usefulness for screening, the digital validating the most recent version, while continuing screening tool may help discover new measurable to improve the design for future versions. “We’re characteristics of autism, called biomarkers, which working to make it as accessible and friendly as could be useful in clinical trials. possible to the user,” says Sapiro, professor of Over the next four years, thousands of children who electrical and computer engineering. are participating in the NIH-funded Duke Autism The screening tool consists of a series of very short Center of Excellence (ACE) study will use the tool. movies and games. While the toddler watches and The ACE participants are also being professionally responds, the in-phone camera collects data on the evaluated for autism and other neurodevelopmental toddler’s gaze, attention, and emotional expressions. disorders, so the team will be able to analyze how well Movements of landmarks on the child’s face, including the tool identifies children at risk for autism. the eyes, eyebrows, nose, and lips, are then tracked. Based on encouraging data from the previous One movie shows a girl playing with toys while iterations, the team is hopeful that the most recent interacting with her mother. Toddlers who may be version will perform well. Eventually, they hope it at risk for autism spend more time looking at the will be widely and freely distributed to help parents toys and less time observing the social interaction quickly and easily learn whether their child could between the girl and her mother. Another movie benefit from a professional evaluation. Sapiro notes
18 Duke Center for Autism and Brain Development While the toddler watches and responds, the in-phone camera collects data on the toddler’s gaze, attention, and emotional expressions. Movements of landmarks on the child’s face, including the eyes, eyebrows, nose, and lips, are then tracked.
Annual Report 2019 19 Research
High-end lab equipment can measure eye tracking extremely precisely, but the precision depends on participants keeping their heads still and going through a series of calibration procedures. This type of equipment is also expensive, making it difficult to use in community or home settings. A toddler watching movies while sitting in someone’s lap is not likely to stay perfectly still or follow calibration instructions. “It has to be super flexible,” Chang says. “The tradeoff in gaining more flexibility is we lose a lot of precision.” The team makes up for the loss in precision in several ways. The movies are designed so that the targets of attention are separated as much as possible. That makes it easier to determine whether the toddler is looking at the toys (on the far left of the screen) or the social interaction (on the far right). In addition to collecting data about gaze and emotion, the tool also collects data about movement. Using facial landmarks, the tool can determine whether the children are able to hold their heads steady, and how quickly they turn when a caregiver says their Top: Todd Calnan, technical director in the Center’s name. Games also collect data about how quickly eye-tracking lab, assesses how well the lab’s equipment and where children touch the screen. This kind of is working. This expensive eye-tracking equipment is data is important because children with autism have standard in the field. Bottom: George Chang (left) and differences in motor control compared to typically Guillermo Sapiro, PhD share the results of their work developing children. demonstrating that eye-tracking can be achieved using Chang says the current version of the tool is a huge the camera in an iPhone. improvement compared to the previous versions. that all children have their hearing tested at birth “We are collecting extra information we think will be and their vision tested at school. He thinks autism helpful in an assessment of autism risk,” he says. screening should be just as routine. And he’s continuing to make the tool even more user Zhuoqing “George” Chang, a PhD candidate in friendly and precise. For example, even though formal electrical and computer engineering, has been calibration isn’t possible, presenting simple moving working on the digital screening tool since 2013, stimuli at the beginning of the process will help the using a public domain software when available and software “learn” how to more accurately interpret writing new software when necessary. Right now, the facial movements from each individual user. screening tool is being tested as an iPhone or iPad “I really like working with these very meaningful app, but the team will be able to modify the software, real-life applications,” Chang says. “I think it has the which relies on machine learning, by “retraining” it for potential to make a big impact.” different operating systems and devices. Dawson, G., and Sapiro, G. (2019). The potential for digital Designing the program to work on a small hand- behavioral measurement tools to transform the detection held device has presented a number of challenges. and diagnosis of autism spectrum disorder. JAMA Pediatrics.
20 Duke Center for Autism and Brain Development Duke Center for Autism participates in DIBS Distinguished Lecture & Symposium
Top: (left to right) Members of Duke faculty, Guillermo Sapiro, PhD, Alison Adcock, MD, PhD, Kafui Dzirasa, MD, PhD, and David Carlson, PhD presented their work at the DIBS Distinguished Lecture and Symposium. Dawson chaired the symposium. Bottom left: Jordan Hashemi, PhD, Duke postdoctoral associate, presents his work. Right: Joshua Gordon, MD, PhD, Director, NIMH, and keynote speaker, tweets about the research of Elena Tennenbaum, PhD, postdoctoral associate.
he Duke Institute for Brain Sciences (DIBS) hosted its inaugural Distinguished Lecture & Symposium in February 2019, entitled, “From Brain Circuits to Behavior: T How Technology is Transforming the Science of Mental Health.” The event featured Joshua Gordon, MD, PhD, Director of the National Institute for Mental Health, as keynote speaker, as well as presentations by Duke faculty and a poster session. Many Duke Center for Autism faculty and staff were involved in the event. Annual Report 2019 21 Duke Center for Autism and Brain Development FY19 By the Numbers
Clinical Services
Phone calls: 8915 total calls to the Autism Clinic phone line 315 for new patient appointments 26% increase from FY18 to FY19 828 MaestroCare referrals (37% increase from FY18 to FY19)
new patient clinical autism 343 visits 320 diagnostic evaluations
consults research diagnostic 12 214 evaluations
3,419 total appointments for 750 unique patients (15% increase from FY18 to FY19)
6 types of clinical intervention services offered to infants through young adults with autism: parent coaching, early behavioral intervention, social skills training, emotional and behavioral regulation, cognitive-behavioral therapy, and medication
23 4,522 New autism-related combined total of Duke scientific journal Center for Autism followers publications on Facebook and Twitter
22 Duke Center for Autism and Brain Development 1 Intern 4 Fellows 4 Postdocs 3 Undergraduates
5 Graduate/ medical 14 Clinic students observers
3 Graduate practicum students 34 Trainees
16 Gap-year students 4 Undergraduates 28 Faculty
5 Graduate students
4 Postdocs 35 Staff
Faculty/students/staff 92 employed full or part time
13 Research Duke-sponsored autism awareness and education >$52.5 million in total sponsored community outreach events autism research funding reaching over 1,400 community members, 4,593 individuals enrolled in Duke including the annual DIBS Autism Volunteer Research Registry Discovery Day, annual (38% increase from FY18!) Autism Awareness Month event with the Honourable 9 clinical studies focused on Mike Lake, and a music improving detection and treatment event for children with ASD of ASD
Annual Report 2019 23 Clinical Services
There’s no such thing as a typical day for the clinical social workers at the Duke Autism Clinic, which is part of the Duke Center for Autism and Brain Development.
Social Workers Provide Wide Range of Support
n any given day, a social worker might secure resources available to her and her daughter. be on the floor playing with a child “I educated myself through materials Mary Beth while screening for autism or other provided me,” Clemens says. “She emailed me Odevelopmental conditions. constantly providing materials.” Or on the phone connecting an out-of-town family to A big part of what the Center’s social workers services at a community-based agency. do is to help families coordinate all the different Or in an office with parents, coaching them on types of care their children need. The services of strategies for helping with their child’s self-injurious many specialists are available through the Center, behavior. including psychologists, psychiatrists, pediatricians, early-intervention specialists, and social workers. Or on the computer, filling out a public school special Others at Duke whose expertise might be brought education form for a Spanish-speaking parent with no to bear include neurologists, speech-language home internet. therapists, occupational therapists, geneticists, But no matter what the social workers are doing, it’s all gastroenterologists, and specialists in eating disorders. about support. The social workers also help coordinate care beyond “As clinical social workers, we provide direct support the borders of Duke, connecting the dots among to the child and their family,” says Mary Beth Hooks, the health system, the public school system, and MSW, LCSW. community-based resources.
Parent Alicia Clemens can attest to that. “I would be In Clemens’ case, Hooks helped her navigate the lost without Mary Beth,” she says. “She has helped me process of getting an individualized education program so much.” Clemens first came to the Duke Center for (IEP) for Rylee at her school, and also suggested Autism and Brain Development when her daughter avenues for securing educational financial assistance. Rylee started having learning and social problems in Clemens lives almost two hours away from Duke, so kindergarten. Hooks helped her find therapy providers for Rylee At the Center, Rylee was diagnosed with autism closer to home. Still, they return to Duke regularly for and ADHD, and Clemens began a crash course in doctor appointments, and when they do, Clemens says learning about both conditions as well as how to Hooks always checks in. Even between visits Hooks
24 Duke Center for Autism and Brain Development keeps in touch. Clemens says, “Mary Beth will email way to communicate with the kids, figuring out me, ‘How are things going? How are you doing?’” what works for them and what makes them open up.” Hooks thrives on interacting with individual children Whether working with parents or children, all the and their families, and providing emotional as well social workers in the Duke Autism Clinic place a as logistical support. “I have so much admiration priority on making people feel comfortable. If a child for the families,” she says. “I love being able to walk or adult with autism is sensitive to noise or particularly alongside a parent or family as they are going through likes certain toys, the social workers will use that these challenging issues.” information to help the person feel at ease. For children and families who live nearby, the Center “We try to create a culture of safety for our patients can provide therapy for children and adolescents and families, not just physical safety but emotional and their parents. The type and duration depend safety,” Hooks says. “When they go out in public they on the child and the need. “If we are providing don’t always feel that.” therapy, we would have a treatment plan for that Azzarelli explains that for some families, going to the child and might be working directly with that grocery store can involve a meltdown and judgmental individual and coaching the family,” Hooks says. “If stares of strangers. “When it’s hard doing normal day- we are providing more of a supportive role to the to-day things, parents can feel isolated and that no one psychiatrist or psychologist, we may be providing understands,” Azzarelli says. “That’s why it’s important more parent support.” to provide this support and help them get connected Both Hooks and her colleague Itala Azzarelli, MSW, to other parents. It’s a relief to them when they hear LCSW, have felt drawn to children with autism since about other families having the same struggles.” their college days, when each of them cared for Hooks agrees, saying, “Families and kids come here to people with autism. Azzarelli says, “I love finding a feel understood.”
As social workers in the Duke Autism Clinic, Itala Azzarelli, MSW, LCSW (left) and Mary Beth Hooks, MSW, LSCW enjoy working with children and adults with autism and their families.
Annual Report 2019 25 Clinical Services
Transitioning to Adulthood
hen Amy first arrived at Duke as an Chandrasekhar says. “College is a little more undergraduate student, she spent a accepting of difference.” lot of time feeling confused. “I didn’t On the other hand, colleges are stimulating and understand how everyone else seemed social places, presenting unique challenges for some Wto know what to do,” she says. “It felt like there was students. “College can feel like an incredibly lonely some network that I wasn’t plugged into at all.” (Amy’s place for students on the spectrum,” Chandrasekhar name has been changed to protect her privacy.) says. “I’ve had students tell me in college you’re Amy, who identifies as being on the autism spectrum, expected to be social all the time, and that’s very is a senior at Duke from California studying exhausting.” engineering and neuroscience. Chandrasekhar is working to improve the experience In her first year she also struggled with roommate of students on the spectrum at Duke. conflicts and all the sensory stimulation of a typical In 2016, she founded college day. “The dining halls can be incredibly Neurodiversity overwhelming,” she says. “Trying to find a place to Connections on sit when there are so many visual cues to look at, so campus. “The aim of many people. . . . It’s hard to process.” the group is focused Things started looking up when Amy met Tara on raising awareness Chandrasekhar, MD, aka Dr. C. “Dr. C. is amazing,” of neurodiversity on campus,” Chandrasekhar says. Amy says. “She focuses on ‘What can we do to make “We’re creating the connections and knowledge base sure you get the best experience possible?’” so we can be more effective in helping students.” Chandrasekhar is a psychiatrist who works part-time Members include representatives from Student at the Duke Center for Autism and Brain Development Health, Counseling and Psychological Services, Duke and part-time at Duke Counseling and Psychological Reach, the Academic Resource Center, the Student Services. She is working hard to improve the Disability Access Office, the Career Center, the Global experience of all students at Duke who have autism, Education Office, and a student representative. “The ADHD, or learning differences. more we talk about it on campus, the more people Chandrasekhar has a special interest in helping are interested in joining,” Chandrasekhar says. “It’s people on the spectrum navigate the transition from really exciting.” adolescence to adulthood. She points out that people with autism are often well supported in the K-12 years, but may suddenly lose services and support after twelfth grade. “It’s a big point of vulnerability when they hit that cliff,” she says. Some people aren’t prepared for college or working and end up staying at home. For individuals who go to community college or a university, there are pluses and minuses to the new environment. “The positives of going to college are that you might be able to find a group of likeminded individuals ”The aim of the group is focused or a group that coalesces around shared goals,” on raising awareness of neurodiversity on campus.”
Tara Chandrasekhar, MD 26 Duke Center for Autism and Brain Development Duke Neurodiversity Connections makes presentations, provides tips for teaching neurodiverse students, and works with other campus organizations such as the Disability and Access Initiative. In February, the group sponsored a screening of Autism in Love, a documentary about the challenges and joys faced by autistic adults seeking or navigating romantic relationships. The evening included a Q&A with the film’s director, Matt Fuller. Students handed out brochures about Neurodiversity Connections before the film. Through Neurodiversity Connections and other work, Chandrasekhar would like to help Duke become more proactive rather than reactive in meeting the needs of neurodiverse students. “These students are here because they are academically brilliant, and Duke can benefit from having them on our campus,” she says. “It’s in everyone’s interest to support their needs.” One of those needs is community. To address that, Chandrasekhar organized a group called the Clubhouse for neurodiverse students, including Amy. “It’s a place to get together and hang out where we can talk about the concerns we have that other people might not share,” Amy says. “A place where you don’t feel like you have to be anybody but yourself.” She says it’s a relief not to have to think about whether she’s making enough eye contact or twitching her fingers too much. “It’s a social group, not a support group,” Amy says. “But it ends up being just a little bit of both, because that’s what friends do, right?”
Raghav Swaminathan, an adult on the spectrum who works at the Duke Center for Autism (center in top Tweet) poses with the film’s director, Matt Fuller (left), and Dr. Madhav Swaminathan at the screening of Autism in Love.
Duke Neurodiversity Connections makes presentations, provides tips for teaching neurodiverse students, and works with other campus organizations such as the Disability and Access Initiative.
Annual Report 2019 27 Training
PhD student Yitong Li works with a team of clinicians, scientists, and engineers at the Center to develop machine-learning techniques that are shedding light on how the brain functions in autism.
Using Machine Learning to Help Our Understanding of Autism
s a PhD student in electrical and computer math that will help us achieve our clinical engineering, Yitong Li didn’t know goals faster.” much about autism, brain signals, or Li’s first project with the Center was to use EEG electroencephalogram (EEG) assessments data collected in a clinical trial to see if he could Awhen he started working with the Center a few years use machine learning to distinguish brain signals ago. But he has a deep understanding of machine- collected before treatment from brain signals after learning, and he is using that knowledge to help treatment. “Machine learning defines features in open new doors in understanding brain functioning a different way than the in autism. features we define,” Li says. At the Center, he works on a team of clinicians, “Those patterns may not be scientists, and engineers devoted to developing ma- understood by humans but chine-learning techniques that can shed light on how are understood by machines.” the brain works and offer better ways of assessing Carlson explains, “Machine the effects of treatments. learning is a funny thing— “It’s this idea of team science,” says David Carlson, you write an algorithm that PhD, assistant professor in the Departments of Civil learns an algorithm. You write Yitong Li, and Environmental Engineering and Biostatistics and code that looks at data, and PhD Student Bioinformatics, who is Li’s mentor. “To move forward every time it sees a new data on big science, we need everyone’s expertise point, it’s going to use that because no one person can do it.” experience to learn how to make better predictions Li and Carlson work closely with Guillermo Sapiro, in the future.” PhD, and Center Director Geraldine Dawson, PhD, The clinical trial provided data from 22 children who looking for ways to take advantage of the power of received an infusion of their own umbilical cord machine learning to advance autism research. “We blood, based on the hypothesis that products in want to make sure we’re not just doing math for the the cord blood might reduce inflammation in the sake of math,” Carlson says, “but that we’re doing brain. The children did show improvements in social
28 Duke Center for Autism and Brain Development Electrophysiology is one of several tools that Center researchers are using to detect whether a treatment has improved brain function.
“Machine learning is a funny thing—you write an algorithm that learns an algorithm. You write code that looks at data, and every time it sees a new data point, it’s going to use that experience to learn how to make better predictions in the future.”
Annual Report 2019 29 Training
behavior and language, according to lab-based That’s where Li came in. To tackle the problem, he assessments and reports from parents and clinicians. started with techniques used in voice and facial All the children in the study had EEG assessments recognition, then added in his own innovations to before the infusion and at 6 and 12 months make the method work with brain signals. From a machine-learning perspective, the project presented several challenges. For one thing, there were only 22 children, which is nothing like the enormous datasets (so-called “big data”) usually used in machine learning. But for each of those children, there was a very large amount of EEG data. Carlson calls this type of project “little big data.” “In fact, a lot of the techniques Yitong is developing are designed to make better use of little big data,” Carlson says. After designing software, Li was able to use machine learning to identify changes in the EEG signal that occurred after treatment with cord blood. “What
Work by Duke Center for Autism researchers was featured in WIRED magazine in May 2019.
afterward. The EEG data were collected while the children were watching three one-minute videos designed to evaluate social response. An EEG read-out represents brain signals collected from 120 different electrodes placed on the scalp. These signals measure neural activity. There are ”Yitong created a new type of numerous features one can extract from the EEG signal. For example, different types of brain activity artificial neural network that used can be associated with oscillations at a certain state-of-the-art techniques to frequency. It is also possible to measure whether two understand how the brain was signals from distinct parts of the brain are operating changing after treatment.” independently or are connected. Current approaches measure each of these features separately, whereas David Carlson, PhD machine learning can examine them simultaneously.
Understanding subtypes of autism based on patterns of brain activity might allow us to predict which children would respond to a given treatment.
30 Duke Center for Autism and Brain Development Trainees moving on Recognizing our staff and trainees that moved on this year to the next phase of their careers:
Elie Abdelnour, MD Psychiatry Residency Program Washington University in St. Louis
Kayla Belvin Physician’s Assistant Program Wake Forest University School of Medicine
Jessica Buttinger, MS MD Program Central Michigan University College of Medicine
Sarah Edmunds, MS Clinical-Research Postdoctoral Fellow Department of Psychiatry, Harvard Medical School & Division of Developmental Medicine, Yitong did was create a new type of artificial neural Boston Children’s Hospital network that used state-of-the-art techniques to understand how the brain was changing after Marc (Ryan) Jackson treatment,” Carlson says. Master’s in Physiology Program Georgetown University Li then turned his attention to a different problem: which of the children had brain-signal patterns that were most similar to each other? Looking at Shelby Johnson relationships like this could help scientists discover Clinical Psychology PhD Program different subtypes of autism. Understanding Washington State University subtypes of autism based on patterns of brain activity might allow us to predict which children Andréa Kaniuka, MA would respond to a given treatment. PhD Program, Public Health Sciences Many types of machine-learning are described as UNC-Charlotte “black box” because the algorithms that the computer uses to recognize patterns are not articulated. But the techniques developed by Li and Carlson have Margaret Katherine McCoy what’s called “interpretable features,” meaning that Master’s of Social Work Program the software identifies the features it’s using to University of Denver School of distinguish one set of brain signals from another. Social Work
This allows the clinical team to understand what Eliana Rabinovitz specific features of the brain change after treatment School-Child Clinical PsyD Fellowship and what features may correlate to subtypes of Yeshiva University Ferkauf School of autism, which in turn could predict treatment Graduate Psychology response. “That’s the novelty of our work,” Li says. Ava Rohloff Master’s in Clinical Mental Health Counseling Program UNC-Charlotte
Annual Report 2019 31 Training
Trainee Spotlight: Psychiatry Resident Alexandra Bey, MD, PhD
hile completing a PhD in neurobiology, Alexandra Bey, MD, PhD, spent six years studying the Wneural circuitry and behavior of mice that were genetically engineered to have mutations known to be associated with autism. Bey, now a resident in the Department of Psychiatry, says, “I was interested in working in child psychiatry and I liked genetics too, so I made genetic models of autism in mice.” Alexandra Bey, MD, PhD (right) with collaborator and faculty member, Working in the lab of physician- Maura Sabatos-DeVito, PhD scientist Yong-Hui Jiang, MD, PhD (see page 6), Bey was looking for correlations between brain regions and autism-related behavior, such as social avoidance. One of the tools she used to quantify mouse behavior was a computerized video- tracking system called EthoVision. It allowed her to track and quantify the movements of mice in an enclosed space including, for example, whether they approached an object or another mouse in the enclosure, and which they spent the most time with. After completing her PhD, she returned for her last year of medical school with a renewed interest in clinical work. “When I went back to medical school, I realized I knew very little about people with autism,” she says. That led her to Geraldine Dawson, PhD, the director of the Center for Autism and Brain Development, who suggested that she get involved in the Center, first by coming in and observing clinical assessments. Bey was also interested in developing measures that could be translated from animal to human studies, which could provide consistency across clinical trials that begin with mice before moving on to humans. Given her extensive background with EthoVision, Dawson suggested Bey collaborate with Maura Sabatos- DeVito, PhD, who has been studying whether EthoVision can be used to quantify behavioral differences in children. The goal is to see whether measurements collected by the technology could be used as reliable biomarkers in the evaluation and testing of new drugs and behavioral treatments for autism (see page 10 to learn about the ABC-CT biomarker study). “I’m thinking about what we can measure with EthoVision and what variables would be meaningful to extract,” Bey says. “It gleans information that a human observer might not pick up, like how fast did the child move?” Here’s how it works: a parent and child enter a room wearing special t-shirts—red for the child and purple for the parent—that allow a video camera in the ceiling to track the movements of the two people over time. The room can be set up to evaluate specific situations for a certain length of time. The parent might be instructed to sit on one side of a room that has a collection of toys in the center. Does the child leave the parent to investigate the toys? Does the child bring a toy back to the parent to share it? How
32 Duke Center for Autism and Brain Development frequently does the child move and how fast? Does the child spend more time with the parent or with the toys? Data collected by the video-tracking software has been gathered as part of several previous and ongoing studies at the Center, and Bey is comparing the results to observations by trained professionals as well as parent reports. While much of the data remains to be analyzed, Bey says there have been several interesting outcomes so far. Perhaps not surprisingly, children who have high levels of hyperactivity as reported by their parents do indeed move more and faster in the room than other children. Also, children with more impaired functioning, such as lower communication skills and lower IQ, spend less time than other children playing with the toys in the center. They tend to either stay next to the parent or move about the room. “It appears that children who have higher cognitive ability can direct their own play with these toys without needing the parent very close by to facilitate play,” Bey says. Currently, diagnosing and evaluating autism relies heavily on observations of behavior made by trained professionals. While video tracking would never replace clinical observation, it has the potential to provide objective measurements that would be less time-consuming and easier to standardize across multiple sites for large clinical trials. Compared to Top: Room set-up for parent-child interaction. other possible biomarkers, such as EEG and lab- based eye-tracking, video tracking would be more Middle: Child with both autism and ADHD (left) and naturalistic and potentially easier for children. child with autism only (right) during free play. Bey’s collaborator and mentor, Maura Sabatos- Bottom: Child with both autism and ADHD (left) and DeVito, PhD, says, “The nicest thing about a child with autism only (right) during parent-child parent-child interaction is that it’s something all interaction. kids generally enjoy. It’s very dynamic and very naturalistic and provides rich information about parent and child engagement patterns.” Sabatos-DeVito is a medical instructor at the Center who is working with Bey on evaluating video-tracking software. When Bey finishes her residency, she hopes to do a fellowship in child psychiatry, followed by a career that combines research and clinical work with people with autism. “My dream goal would be to look between species—mice and humans—to find biomarkers that work in both,” she says, “with the ultimate goal of using these biomarkers to translate basic science findings from animal studies into effective treatments to improve the lives of people with autism.”
Sabatos-DeVito, M., Murias, M., Dawson, G., Howell, T., Yuan, A., Marsan, S., Bernier, R., Brandt, C., Chawarska, K., Dzuira, J., Faja, S., Jeste, S., Naples, A., Nelson, C., Sugar, C., Shic, F., Webb, S., & McPartland, J., Autism Biomarkers Consortium for Clinical Trials (2019). Methodological considerations in the use of Noldus EthoVision XT video tracking of children with autism in multi-site clinical trials. Biological Psychology.
Annual Report 2019 33 Training
Building Partnerships to Support Early Diagnosis and Intervention in Africa
utism affects individuals across the globe. standardized collection of materials and activities Yet in most parts of the world, children and to screen and assess for autism. Such an approach adults with autism do not have ready access is widely used in the United States and European to diagnostic services or treatment. countries to inform the diagnosis of autism, but its A use in most parts of the world is limited because Lauren Franz, MBChB, MPH, a child and adolescent psychiatrist, wants to improve access for children of barriers related to cost, culture, language, and with autism and their families in Africa. Along with supervision. local colleagues, Franz is working on projects in “Diagnostic training is seen as a first step towards South Africa and Tanzania. capacity building in early identification and The needs are stark. As Franz wrote in an editorial intervention,” Franz says. published in Spectrum in January: “As many as three As part of the project, three occupational therapists— in five children in sub-Saharan Africa are at risk of Simon Mallya, Vivian Mdavire, and Ignace Tarimo— developmental disabilities, due, at least in part, to traveled to Cape Town for diagnostic training in poverty, malnutrition and social deprivation. Yet November. The occupational therapists work at services are extremely limited.” a medical university called Kilimanjaro Christian Franz grew up in South Africa and did her medical Medical Center (KCMC) in Moshi, Tanzania. Duke training there. She practiced as a physician in already has a partnership with KCMC through the Namibia and the province of KwaZulu-Natal in South Duke Global Health Institute, so it was a natural place Africa. She saw firsthand the lack of resources and for Franz to start. opportunity. “Being on the ground and feeling the Petrus de Vries, MBChB, FRCPsych, PhD, provided frustration of lack of resources and appropriate the training. He is a professor at the University of infrastructure really made me interested in the Cape Town and the founder and director of CARA. bigger picture,” she says. She decided to earn “Professor Petrus de Vries is the only certified ‘gold a degree in public health, and train further in standard’ diagnostic trainer on the continent, so general psychiatry, child and adolescent psychiatry, we’ve supported him to train our colleagues in and global health to explore that bigger picture Tanzania,” Franz says. and understand “the systemic things you can manipulate.” Now she’s putting those experiences and lessons to good use. For several years, with support from the National Institutes of Health (NIH), she’s been collaborating with partners here and in South Africa to build capacity for autism diagnosis and behavioral intervention in South Africa. Now she’s beginning to do similar work in Tanzania. Working in partnership with the Duke Center for Autism and Brain Development, the Duke Global ”Diagnostic training is seen as Health Institute (DGHI), and the Center for Autism a first step towards capacity Research in Africa (CARA), Franz is supporting the training of providers in Tanzania to use a building in early identification and intervention.” Lauren Franz, MBChB, MPH
34 Duke Center for Autism and Brain Development One of the occupational therapists, Simon Mallya, and abilities,” Franz says. “That’s such a critical says the needs are high in Tanzania. “There are a lot step. That’s the beginning of developing a shared of children with features suggestive of autism [who] diagnostic language.” are not engaged in proper follow-up of therapy at Eventually, Franz hopes the diagnostic materials and any appreciable level,” he says. “Historically, there is activities can be translated and adapted culturally misdiagnosis of children with autism, late diagnosis, for Tanzania. Mallya agrees, noting that Swahili is the or only severe cases are identified.” He enjoyed first language of most Tanzanian children. the training and looks forward to helping grow the Capacity building in diagnostic skills is only the project so that more providers can be trained, and first step toward Franz’s ultimate goal, which is more children will be able to receive early diagnosis to increase services available to autistic children. and intervention. “Diagnosis and intervention need to go hand in hand,” Back in Moshi, he and the other two therapists are she says. To that end, two of the KCMC occupational now practicing the diagnostic methods, and will be therapists will be attending a training workshop in submitting videos of themselves using the materials September in South Africa on an early intervention and activities with children. “The videos will allow for method called the Early Start Denver Model (ESDM), supervision to support growth in their confidence
Diagnostic training with colleagues from the University of the Free State, the University of Cape Town, and Kilimanjaro Christian Medical Center in Tanzania
Capacity building in diagnostic skills is only the first step toward Franz’s ultimate goal, which is to increase services available to autistic children. “Diagnosis and intervention need to go hand in hand,” she says.
Annual Report 2019 35 Training
which was has been shown to improve outcomes for specialist providers, working under supervision, children with autism. ESDM was developed by Sally could be used not only in South Africa and Tanzania, Rogers, PhD, and Geraldine Dawson, PhD, director of but other low-resource settings. “The work in the Duke Center for Autism and Brain Development. South Africa is around how do we take a complex Franz has already certified three South African intervention model like ESDM and tailor it to a low- therapists to international ESDM standards at the resource setting in a sustainable way?” Franz says. Center for Autism Research in Africa, supported In everything she does, Franz looks for ways to build by a career development award from NIH. As capacity, leverage partnerships, share resources, and part of Franz’s ongoing study, these certified strengthen or create systems. She hopes that the therapists are partnering with schools to train non- work she has started in South Africa and Tanzania specialist providers referred to as early childhood will continue to grow as the people she has trained development workers. These early childhood spread out and train others. “What I love most about development workers, in turn, coach caregivers in what I do is that there is such a capacity-building the use of ESDM intervention strategies. component,” she says. “It’s incredibly rewarding.” Early evaluations are promising, and a pilot project aiming to enroll children and caregivers is underway. Franz, L., Adewumi, K., Chambers, N., Viljoen, M., Baumgartner, J. N., & de Vries, P. J. (2018). Providing early detection and early The caregivers will receive 12 sessions of coaching intervention for autism spectrum disorder in South Africa: from the early childhood development workers. stakeholder perspectives from the Western Cape province. If the results are good, the model of using non- Journal of Child and Adolescent Mental Health.
Caregiver coaching training with colleagues from the University of Cape Town, Western Cape Education Department Schools, and Kilimanjaro Christian Medical Center in Tanzania
36 Duke Center for Autism and Brain Development Community
Father of son with autism urges moving from inclusion to a purpose-filled life
Challenging the Way People Think about ‘Normal’
he Honourable Mike Lake’s Twitter account description neatly sums up his busy life: “Canadian Conservative Member of Parliament for Edmonton-Wetaskiwin. Shadow Minister for TYouth, Sport and Accessibility. #Autism parent. @EdmontonOilers fan.” (“Shadow Minister” refers to the fact that his party is not currently in power.) What the words cannot convey is the extraordinary bond Lake shares with his 23-year-old son, Jaden, who has autism. Experiencing their love in person was the highlight of Lake’s April 15 presentation at Duke, “Expect More: An Autism Adventure,” an evening event recognizing Autism Awareness Month. Together, he and Jaden challenged how we think about the people around us, emphasizing that we all have unique abilities and challenges. The Duke Center for Autism and Brain Development organized the event, attended by more than 100 faculty, students, staff, and community members. It The Honourable Mike Lake, PC, MP (left) and son Jaden took place in the Duke Institute for Brain Sciences, with Geraldine Dawson, PhD which also co-sponsored the event. Before the presentation, Mike and Jaden sat down “Jaden loves the movement of travel,” so it’s an for a brief interview, accompanied by their friend opportunity to do their favorite thing: spend time Julie. Mike did most of the talking, but Jaden, who is together. Nonetheless, travel can be wearying, so nonverbal, nonetheless communicated his opinion after a few minutes, Julie and Jaden departed for quite effectively—his body language said, “OK, some pre-event down time. That left a few minutes another interview. I’m going to tune out and play to learn more about this extraordinary family. with my smartphone”—an activity familiar to any Mike has been a global autism advocate since parent of a young adult. Jaden was a youngster. When asked what is most The three had traveled to North Carolina by car, important to him about advocacy, Lake replied, from Ottawa—a 12-hour drive—with a stopover in “We want to challenge the way people think about Washington, D.C. Most of us groan at the thought ‘normal.’” Inclusion [of people with different abilities] of spending so much time in the car but, Lake said, is good, he said, but it’s not the ultimate goal.
Annual Report 2019 37 Community
“I want us to move beyond inclusion to contribution— Another surprise, he said, “in the best possible way, to do a better job of unlocking each person’s is how responsive people are to the message—how potential,” he said. “OUR purpose is to help others little convincing people take to understand the find THEIR purpose.” As an example, he described importance of understanding and inclusion.” Jaden’s work at his school library, where he In 10 years, Lake hopes to see much more progress separates books into piles and re-shelves them in reducing stigma and increasing awareness of alphabetically—much more quickly and efficiently autism around the world. One way to do that, he said, than his classmates. is to leverage the work being done by international That’s because Jaden excels at numbers and agencies such as UNICEF. “We must reach out to letters, especially when combined with concrete, the most vulnerable people around the world,” he understandable tasks. Shelving library books fills said. His background in international development the bill, giving him both a purpose and a sense and banking made working with the Global Autism of belonging. Partnership a natural fit. The group’s work centers At the same time, Jaden experiences challenges in on reducing stigma and, “helping individuals with more abstract areas. “He doesn’t understand the autism and their families in a meaningful way.” concept of danger,” Lake said. He makes certain to In her welcoming remarks, Geraldine Dawson, hold Jaden’s hand when they are out, because if PhD, Director of the Duke Center for Autism Jaden sees a large dog—he loves dogs—across the and Brain Development, echoed Lake’s positive street, he will immediately run to the dog without message, describing the event as, “a celebration” of regard to oncoming traffic. “You can teach him to neurodiversity, the broader autism community, and look left and the valuable contributions of people with autism right before to society. Dawson, an international expert in early crossing, but he diagnosis and treatment of autism, has known Mike doesn’t know and Jaden Lake for years, and praised Lake’s work as how to estimate a global autism advocate. the speed of “He and Jaden are amazing ambassadors for people oncoming cars or with autism, not just in North America, but around the threat they the world,” she said. “His inspiring message reminds pose if he crosses us all that we need to do more to make sure the street.” that people with autism are fully included in our Asked what still communities and workplaces.” surprises him A key component of Mike Lake’s life philosophy is after all these summed up in a quote from the late John Wooden, years of advocacy, famed UCLA basketball coach: “You can’t live a Lake responded, perfect day without doing something for someone “How much work who will never be able to repay you.” As the audience we need to do learned Monday night, Lake and Jaden are living as around autism many perfect days as possible. awareness.”
Together, he and Jaden challenged how we think about the people around us, emphasizing that we all have unique abilities and challenges.
38 Duke Center for Autism and Brain Development Duke Neurobiology Graduate Student Winston Liu helps a Nick and Adam Nickerson present Discovery Day attendee examine a brain. Dr. Geri Dawson with a check from 3,000 Miles for Autism fundraising. Duke Center for Autism Participates in DIBS Discovery Day Nick Nickerson and 3,000 Miles for Autism Donate he Duke Institute for Brain Sciences (DIBS) hosted another successful DIBS Discovery Day in March of 2019 to Duke Center for Autism Twith record-breaking attendance of 565 children and HANK YOU to Mr. Nick Nickerson, adults from the local community. Kids enjoyed activities like founder of 3,000 Miles for Autism! touching a real brain and coloring brain pictures, while adults TMr. Nickerson is the father of Adam, browsed scientific exhibits designed by Duke undergraduate an adult with autism, and a passionate students, graduate students, and postdocs. This year, the advocate for autism research. At age Duke Center for Autism co-sponsored a sensory-friendly hour 73, Mr. Nickerson has nearly completed held before the event’s official start that attracted 75 people his goal of running 3,000 miles to raise and gave children and adults on the spectrum or with other funds for autism research. “In 2017, I developmental issues the opportunity to attend in advance of decided to dedicate the rest of my the crowds. life to raising money to be donated to autism research,” he said.
The Duke Center for Autism and Brain Development has been the fortunate recipient of nearly four thousand dollars raised by Mr. Nickerson that have gone toward our research program. We are amazed by his athletic achievement and truly appreciate the support we have received from 3,000 Miles for Autism!
Kimberly Blackshear, right, and Lori Reinhart-Mercer set up the Center’s information table and set out healthy snacks for attendees at DIBS Discovery Day.
Annual Report 2019 39
Community
Duke Center for Autism Hosts “Music 2 the Max” Event
ver 30 children on the autism spectrum and their families gathered Oat the Duke Institute for Brain Sciences (DIBS) “Cube” on December 1st, 2018 to participate in the Duke Center for Autism’s inaugural “Music 2 the Max” event. The event was planned by Center staff members Elie Abdelnour, Samantha Bowen, Charlotte Stoute, Elizabeth Sturdivant, and Alexandra Valladares, along with William Dawson, Musician in Residence and Performing Arts Coordinator for the Arts & Health at Duke program.
Participants took part in three unique workshop stations that gave them the opportunity to try out different ways of making music. William Dawson led the ukulele station where kids played open-tuned ukuleles and sang songs together. Max Puhala and Berk Ozturk from Chapel-Hill based organization Push Play Sing guided kids in playing electronic music on keyboards, drum machines, and other electronic devices. At the instrument making station, participants decorated their own cardboard and rubber band instruments. With help from experienced musician Elie Abdelnour, MD, they were then able to play them through an amplifier with special sound effects. At the end of the event, all the participants and their families participated in a special podcast that can be heard at https://www.youtube.com/watch?v=85qEhXidYEc&t=0s.
“Thank you so much for the opportunity to attend Music to the Max. My daughter had a wonderful time! She especially loved the chance to play the ukulele and the Push & Play session...The event was well organized with lots of volunteers Participants and staff posing in their rockin’ sunglasses that everyone received at the end of the event. to make the event run smoothly. It was a really fun day!”
40 Duke Center for Autism and Brain Development
Back row: Keith Valentine, Jillian Padilla, [a visiting nurse], Center staff and faculty at the annual Triangle Stephanie Hannah, Tracie Hazelett, Liz Indence, Vicki Sutter, Walk for Autism Speaks event. Breanne Hamlett Front row: Jill Howard, PhD, Mackenzie Hathaway, Shelby Ferry, Tara Chandrasekhar, MD, Sarah Edmunds, MS
Duke Emergency Department Raises Funds for Duke Center for Autism e are very grateful to the Duke Emergency Department for the support they showed our Center Win honor of Autism Awareness Month this year. Led by Vicki Sutter, BSN, RN, the department raised over $200 for the Duke Center for Autism and Brain Development in April.
The Emergency Department was interested in donating to the Duke Center for Autism because of their frequent engagement with patients with autism. In light of this, Ms. Sutter asked if members of our Center’s clinical team could provide the ED staff with guidance for interacting with people on the autism spectrum in medical settings. Psychiatrist Tara Chandrasekhar, MD, psychologist Jill Howard, PhD, and intern Sarah Edmunds, MS, enjoyed meeting with the ED team to give them some tips on best practices. Small changes in the lighting of an exam room or ways of communicating with a patient with autism, who are sometimes nonverbal, can make a real difference. We were thrilled to have professional golfer Ernie Els and his wife Liezl visit Sutter remarked, “In the Emergency Department, we our Center in April 2019. Here post doc encounter patients with autism in various age groups. Jordan Hashemi, PhD, is giving Ernie Working with this special patient population encouraged us to a demonstration of one of our autism reach out to the Duke Center for Autism for more education. screening tools. The Els, parents of a son We also really wanted to raise awareness in our department with autism, are autism advocates and and sold autism ribbons and buttons, with all proceeds going founders of the Els for Autism Foundation. to the autism center. Working at Duke has been so amazing, and the collaborative effort between our department and the autism center has been a wonderful experience for our patients and our staff!”
“In the Emergency Department, we encounter patients with autism in various age groups.” Annual Report 2019 41 Thank You We wish to express our gratitude to the following agencies, foundations, and individuals who generously supported the work of the Duke Center for Autism in FY2019.
Department of Defense Marcus Foundation National Institutes of Health National Science Foundation Simons Foundation
Mr. James Barrett and Dr. Stacey Coulter Mrs. Lori A. Bullis Mr. Paul Attilio DiMarco and Mrs. Sherri DiMarco Duke Hospital Emergency Department Employees Mr. William Florence and Ms. Joy Seppala Mr. and Mrs. David Fullerton Ms. Jill Ann Jenkins Mr. Rushabh Modi Mr. Ted and Mrs. Mary Moore Mr. Nick Nickerson / 3,000 Miles for Autism Mrs. Jane O’Brien Ms. Vesna Papoe Mr. James Schwab and Mrs. Kimberly Schwab Drs. Harry and Andrea Stylli Mr. Matthew Trzyna and Mrs. Dianne Trzyna Mr. David Zalik and Ms. Helen Zalik
WE WELCOME YOUR SUPPORT By giving to the Duke Center for Autism and Brain Development, you are joining in our mission to help each individual with autism reach his or her fullest potential. As part of Duke University, the Duke Center for Autism and Brain Development is a 501(c)(3) non- profit organization. The Federal Tax ID number for the program is 56-0532129.
How to contribute: By secure website: You can make your secure online gift by visiting https://www.gifts.duke.edu and entering “Duke Center for Autism and Brain Development” in the search bar. By check: Please make all gifts payable to “Duke University,” with Duke Center for Autism referenced in the “memo” portion of your check, and mail it to:
Duke Health Development and Alumni Affairs Attn: J. Steven Barnes 300 W. Morgan Street, Ste. 1200 Durham, NC 27701
42 Duke Center for Autism and Brain Development Kids enjoyed playing music at the Center’s “Music 2 the Max” event in December 2018.
NIH Autism Center of Excellence