2013 IACC Strategic Plan Update Workshop - November 15, 2013

Due to the recent government closure, this workshop has been rescheduled from its original date of October 29, 2013. The new date/location is as follows:

Topic	Topic Description
Date:	Friday, November 15, 2013
Time:	8:30 a.m. to 5:00 p.m. Eastern
Place:	National Institutes of Health 1 Center Drive, Wilson Hall Bethesda, Maryland 20892 Map and Directions
Cost:	The meeting is free and open to the public. Please note: The building does not have its own cafeteria and we are prohibited from providing coffee under the new Federal rules, so please feel free to bring your own lunch.
Agenda:	The workshop will feature discussions between IACC members and external subject matter and community experts regarding updates from the field and from the community that the committee may consider when developing the 2013 update of the IACC Strategic Plan.
Access:	Medical Center Metro Station (Red Line) On-site parking is available for a fee, but very limited. Vehicles entering the NIH campus are subject to security inspections, and visitors must present photo identification for NIH campus access.
Registration:	Pre-registration is recommended to expedite check-in. Seating in the meeting room is limited to room capacity and on a first come, first served basis.
Webcast Live:	VideoCast
Conference Call Access:	Dial: (888) 603-9744 Access code: 4649252
Deadlines:	Notification of intent to present oral comments: Friday, November 8, 2013 by 5:00 p.m. Eastern Submission of written/electronic statement for oral comments: Tuesday, November 12, 2013 by 5:00 p.m. Eastern Final Deadline for Submission of written comments: Tuesday, November 12, 2013 by 5:00 p.m. Eastern Please note: The NIMH Office of Autism Research Coordination (OARC) anticipates that written public comments received by the deadline of 5:00 p.m. Eastern, Tuesday, November 12, 2013 will be presented to the Committee prior to the November 15th workshop for the Committee's consideration. Any written comments received after the November 12, 2013 deadline (between November 13-14, 2013) will be provided to the Committee either before or after the meeting, depending on the volume of comments received and the time required to process them in accordance with privacy regulations and other applicable Federal policies.
Materials:	Meeting materials
Contact Person:	Ms. Lina Perez Office of Autism Research Coordination National Institute of Mental Health, NIH 6001 Executive Boulevard, NSC, Room 6182A Rockville, Maryland 20852 Phone: (301) 443-6040 E-mail: IACCPublicInquiries@mail.nih.gov
Public Comment:	Any member of the public interested in presenting oral comments to the Committee must notify the Contact Person listed on this notice by 5:00 p.m. Eastern on Friday, November 8, 2013, with their request to present oral comments at the meeting. Interested individuals and representatives of organizations must submit a written/electronic copy of the oral presentation/statement including a brief description of the organization represented by 5:00 p.m. Eastern on Tuesday, November 12, 2013. Statements submitted will become a part of the public record. Only one representative of an organization will be allowed to present oral comments on behalf of that organization and presentations will be limited to three to five minutes per speaker, depending on number of speakers to be accommodated within the allotted time. Speakers will be assigned a time to speak in the order of the date and time when their request to speak is received, along with the required submission of the written/electronic statement by the specified deadline. Oral public comments are on a first come, first served basis. If more individuals request public comment than can be permitted within the time allotted, those who cannot be accommodated within the allotted time may provide written public comments. In addition, any interested person may submit written comments to the IACC prior to the meeting by sending the comments to the Contact Person listed on this notice by 5:00 p.m. Eastern on Tuesday, November 12, 2013. The comments should include the name, address, telephone number and when applicable, the business or professional affiliation of the interested person. NIMH anticipates written public comments received by 5:00 p.m. Eastern, Tuesday, November 12, 2013 will be presented to the Committee prior to the meeting for the Committee's consideration. Any written comments received after the November 12, 2013 deadline (between November 13-14, 2013) will be provided to the Committee either before or after the meeting, depending on the volume of comments received and the time required to process them in accordance with privacy regulations and other applicable Federal policies. All written public comments and oral public comment statements received by the deadlines for both oral and written public comments will be provided to the IACC for their consideration and will become part of the public record. Core Values: In the 2009 IACC Strategic Plan, the IACC listed the "Spirit of Collaboration" as one of its core values, stating that, "We will treat others with respect, listen to diverse views with open minds, discuss submitted public comments, and foster discussions where participants can comfortably offer opposing opinions." In keeping with this core value, the IACC and the NIMH Office of Autism Research Coordination (OARC) ask that members of the public who provide public comments or participate in meetings of the IACC also seek to treat others with respect and consideration in their communications and actions, even when discussing issues of genuine concern or disagreement. Remote Access: This workshop will also be open to the public through a conference call number and live webcast on the Internet. Members of the public who participate using the conference call phone number will be able to listen to the discussion but will not be heard. If you experience any technical problems with the webcast or conference call, please send an e-mail to HelpDeskIACC@gmail.com or by phone at 415-652-8023. Special Accommodations: Individuals who participate in person or by using these electronic services and who need special assistance, such as captioning of the conference call or other reasonable accommodations, should submit a request to the contact person listed on this notice at least 5 days prior to the meeting. Security: In the interest of security, NIH has instituted stringent procedures for entrance onto the NIH campus. All visitor vehicles, including taxicabs, hotel, and airport shuttles will be inspected before being allowed on campus. Visitors will be asked to show one form of identification (for example, a government-issued photo ID, driver's license, or passport) and to state the purpose of their visit. Also as a part of security procedures, attendees should be prepared to present a photo ID at the meeting registration desk during the check-in process. Pre-registration is recommended. Seating will be limited to the room capacity and seats will be on a first come, first served basis, with expedited check-in for those who are pre-registered. Meeting schedule subject to change.

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The registration desk opens at 8:00 a.m. Eastern for members of the public attending in person, and the meeting will also be available to the public by live videocast and conference call. The materials for the meeting can be found here.

Time	Event
8:30 a.m.	Welcome, Introductions and Charge Susan Daniels, Ph.D. Acting Director, Office of Autism Research Coordination, National Institute of Mental Health (NIMH) Executive Secretary, IACC Thomas Insel, M.D. Director, NIMH Chair, IACC
9:00 a.m.	Discussion of IACC Strategic Plan Question 1 "When Should I Be Concerned?" (Screening and Diagnosis)
9:50 a.m.	Discussion of IACC Strategic Plan Question 2 "How Can I Understand What Is Happening?" (Underlying Biology of ASD)
10:40 a.m.	Break
10:55 a.m.	Discussion of IACC Strategic Plan Question 3 "What Caused This to Happen and Can It Be Prevented?" (Risk Factors)
11:45 a.m.	Public Comment
12:15 p.m.	IACC Member and Invited Participant Box Lunch Pick-up/Payment (Working lunch will start at 12:45)
12:45 p.m.	Discussion of IACC Strategic Plan Question 4 "Which Treatments and Interventions Will Help?" (Treatments and Interventions)
1:35 p.m.	Discussion of IACC Strategic Plan Question 5 "Where Can I Turn for Services?" (Services)
2:25 p.m.	Discussion of IACC Strategic Plan Question 6 "What Does the Future Hold, Particularly for Adults?" (Lifespan)
3:15 p.m.	Break
3:30 p.m.	Discussion of IACC Strategic Plan Question 7 "What Other Infrastructure and Surveillance Needs Must Be Met?" (Infrastructure and Surveillance)
4:20 p.m.	Synthesis, Wrap-up and Next Steps
5:00 p.m.	Adjournment

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• Roll Call and Opening Remarks
• Discussion of Strategic Plan Chapters
  • Question 1: When should I be concerned?
  • Question 2: How can I understand what is happening?
  • Question 3: What caused this to happen and can it be prevented?
• Public Comment
  • Lisa Joyce Goes
  • Carolyn Gammicchia
  • Linda Varsou
  • Michelle Guppy
  • Carol Fruscella
  • Dawn Loughborough
• Discussion of Strategic Plan Chapters (Continued)
  • Question 4: Which treatments and interventions will help?
  • Question 5: Where can I turn for services?
  • Question 6: What does the future hold, particularly for adults?
  • Question 7: What other infrastructure and surveillance needs must be met?
• Synthesis, Wrap-up and Next Steps

The Interagency Autism Coordinating Committee (IACC) convened a workshop on Friday, November 15, 2013, from 8:30 a.m. to 5:00 p.m. at the National Institutes of Health in Bethesda, Maryland.

In accordance with Public Law 92-463, the meeting was open to the public. Thomas R. Insel, M.D., Chair presided.

Participants:

IACC Members and Staff:

Thomas Insel, M.D., Chair, IACC, National Institute of Mental Health (NIMH); Susan Daniels, Ph.D., Executive Secretary, IACC, Office of Autism Research Coordination (OARC), (NIMH); Idil Abdull, Somali-American Autism Foundation; Scott Badesch,^* Autism Society of America; Anshu Batra,^* M.D., Our Special Kids; Silvana Borges,^* M.D., U.S. Food and Drug Administration (FDA) (representing Tiffany Farchione, M.D.); Coleen Boyle, Ph.D., Ph.D., M.S. Hyg., Centers for Disease Control and Prevention (CDC); Matthew Carey, Ph.D., Contributor, Left Brain Right Brain; Geraldine Dawson,^* Ph.D., Duke University; Alice Kau, Ph.D., Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (representing Alan Guttmacher, M.D.); Laura Kavanagh,^* M.P.P., Health Resources and Services Administration (HRSA); Walter Koroshetz, M.D., National Institute of Neurological Disorders and Stroke (NINDS); Cindy Lawler, Ph.D., National Institute of Environmental Health Sciences (NIEHS) (representing Linda Birnbaum, Ph.D.); David Mandell,^* Sc.D., University of Pennsylvania; Shantel Meek, M.S., Administration for Children and Families (ACF); Stan Niu, Ph.D., U.S. Department of Defense (DoD) (representing Donna Kimbark, Ph.D.); John O'Brien,^* M.A., Centers for Medicare & Medicaid Services (CMS); Lyn Redwood, R.N., M.S.N., Coalition for SafeMinds; Catherine Rice, Ph.D., Centers for Disease Control (CDC); Scott Robertson, Ph.D., Autistic Self Advocacy Network (ASAN); John Robison, Self-Advocate, Parent, and Author; Alison Singer, M.B.A., Autism Science Foundation (ASF); Larry Wexler,^* Ed.D., U.S. Department of Education (ED) (representing Michael Yudin); Buck Wong, National Institute on Deafness and Other Communication Disorders (NIDCD) (representing James Battey, Ph.D.)

Invited External Experts:

Brian Boyd, Ph.D., University of North Carolina at Chapel Hill; Joseph Buxbaum,^* Ph.D., M.Sc., Icahn School of Medicine at Mount Sinai; Nancy Cheak-Zamora,^* Ph.D., M.A., University of Missouri; Julie Daniels, Ph.D., M.P.H., University of North Carolina at Chapel Hill; Maureen Durkin,^* Ph.D., Dr.P.H., M.P.H., University of Wisconsin-Madison; Danielle Fallin,^* Ph.D., Johns Hopkins University; Dan Hall,^* M.B.A., National Database on Autism Research (NDAR) (NIMH); Irva Hertz-Picciotto,^* Ph.D., M.P.H., University of California, Davis; Ami Klin,^* Ph.D., Marcus Autism Center, Emory University; Paul Law, M.D., M.P.H.; Johns Hopkins University; Thomas Lehner, Ph.D., M.P.H., NIMH; Nancy Minshew, M.D., University of Pittsburgh; Carlos Pardo-Villamizar, M.D., Johns Hopkins University; Kevin Pelphrey,^* Ph.D., Yale University; James Perrin,^* M.D., Harvard University; Karen Pierce, Ph.D., University of California, San Diego; Paul Shattuck, Ph.D., Drexel University; Aubyn Stahmer, Ph.D., M.A., Rady Children's Hospital and University of California, San Diego; Jeremy Veenstra-Vanderweele, M.D., Vanderbilt University; Dennis Wall,^* Ph.D., Harvard University; Paul Wang, M.D., Autism Speaks; Zachary Warren, Ph.D., Vanderbilt University; Amy Wetherby, Ph.D., CCC-SLP, Florida State University

*Note: Attended by phone.

Roll Call and Opening Remarks

Dr. Thomas Insel welcomed IACC members, invited experts, and members of the public. He introduced Dr. Susan Daniels, who moderated the day's discussions. Participants in the room and on the phone briefly introduced themselves.

Dr. Insel next provided an overview of the aim of this year's update of the IACC Strategic Plan, and reviewed the process to date. Dr. Insel emphasized that the objectives would remain unchanged and no new ones would be added. This year the Committee chose to perform an accounting of the Plan, including: (1) how much was invested in each of the objectives, and (2) what the return was on that investment. In other words, what knowledge has been gained since 2008/2009? In addition, this Update provided a chance to identify any new research opportunities that had emerged since 2009 or even since the last Plan Update.

• In the first round of conference calls, the Question-specific Planning Groups examined the status of each Strategic Plan Objective in terms of projects funded by federal agencies and private organizations , assessing the extent to which funding aligned with IACC budget recommendations and projects covered the topics included in each objective(see IACC Website for detailed information).
• In the second round of calls, subject matter experts were invited to address the state of the science for each of the objectives. The aim of these calls was to understand the scientific findings and advances that had resulted from the investment, and what gaps and barriers remain, as well as what new opportunities may have arisen. The Planning Groups also sought to determine whether there were any objectives that could be considered completed (see IACC Website for the conclusions)

Dr. Insel also briefly described the structure for the day's meeting. Dr. Walter Koroshetz asked for a timeline for completing the Strategic Plan. Dr. Susan Daniels briefly explained the anticipated timeline; culminating with a vote on the final version of the Plan during the December full Committee conference call. Dr. Daniels said that it was anticipated that most of the major input for the Plan would come from the workshop. She noted that all of the meeting materials were available on the IACC Website.

Discussion of Strategic Plan Chapters

Question 1: When should I be concerned?

Aspirational Goal: Children at risk for ASD will be identified through reliable methods before ASD behavioral characteristics fully manifest.

Dr. Daniels briefly explained the materials provided for Chapter 1 (and for each of the chapters): cumulative funding tables from the first call, and a summary table of the objectives synthesized from discussions from both Planning Group conference calls. For this discussion, she provided a slide with key themes, which emerged from the calls.

• Cost effective, performance based screening and diagnostic tools
• Tools that are effective in diverse cultural settings
• Need to link genetic testing with availability of appropriate interventions or other benefits
• Need for biomarkers of ASD risk

Mr. John Robison, who chaired the Question 1 Planning Group, said that the Group had concluded that at least half of objectives had been met and that most of the rest had been partly met. Only one objective: conducting studies to understand the impact of early diagnosis on choice of intervention and outcomes - had not been met. He said that one area of concern was that information based on the research results for the objectives had not yet been translated into tools that the community could use. Likewise, the information had not even been communicated to the community. This process - delivering tools and information to those who need them - was as important as the research, he said. Better communication was needed to help the autism community understand the science process, why it takes time, and why it is so necessary.

Dr. Insel agreed that this was one of a number of cross-cutting issues, and perhaps these could be worked into the introduction or conclusion. He suggested that they revisit this issue. Dr. Scott Robertson noted that there had been no follow up to the workshops on the ethical, legal, and societal aspects of doing this research that were held by NIH and ASAN in 2011. He said that as research continues to advance, these issues will still be relevant and that this should be an ongoing conversation. Dr. Insel agreed, saying that this was another important cross-cutting issue to discuss later.

Dr. Coleen Boyle said that the Question 1 Planning Group had identified several areas of needs: efficient, effective diagnostic tools; screening within both diverse settings and general population setting; genetic testing; and biomarkers of risk. Dr. Karen Pierce added that much of the work to identify early biomarkers of risk had focused on siblings of children with autism spectrum disorder (ASD). However, more studies were needed with general populations. Ms. Lyn Redwood suggested identifying biomarkers of either inflammation or immune dysfunction that might be present at birth, and which could be followed over time.

Dr. Insel asked what was specifically possible in the laboratory in terms of screening and identification. Dr. Pierce said that in theory, if broadband screening was started at 12 months of age, and was repeated at 18 and 24 months, 95 percent of babies with ASD risk could be identified. However, she added that no one has yet conducted a study to determine the exact sensitivity of such screening. In addition, there are a number of barriers to repeated screening; thus, it is not currently performed. In practice, the proportion of young children currently identified with ASD is 2 percent, she said. Children with more severe symptoms were more easily identified, while those who exhibited moderate symptoms or were high functioning were often missed. Newer tools with different cutoffs identified more of these children, she said. Dr. Insel asked about sensitivity and specificity. Dr. Amy Wetherby said that the general aim is for greater than 80 percent sensitivity/specificity. She noted that with her work, sensitivity/specificity are in the mid to high 80 percent for as toddlers as young as 12 months.¹ Dr. Joseph Buxbaum said that from a genomic perspective it is possible to identify 30 percent of children at increased risk of ASD due to a genetic finding.

Dr. Geraldine Dawson said that with regard to the question of the ability to detect autism before the syndrome is fully manifest, it was important to distinguish between infants younger than 12 months and those 12 to 18 months. She said that detection was much better in the 12 to 18 months range compared with infants younger than 12 months. In addition, it was important to distinguish between diagnosis and risk. Dr. Dawson also said that the search for early risk markers should be broadened to include physiological markers, such as sleep, EEG, autonomic measures, and gastrointestinal (GI) function.

Dr. Wetherby said that more investment in community samples had the advantage of increasing the understanding of health disparities. She said that work needed to take place to link screening with diagnosis and with interventions and services in the community. In Dr. Pierce's study, only 60 percent of those families then sought out a diagnosis, which suggested that there was a huge gap between families hearing that the child may be at risk for autism and their engagement with services.² Dr. Wetherby also observed that ASD diagnosis was a complex problem in the community because different physicians used different tools. However, there were promising tools that had begun to be used across cultures in very low-resource settings. But one stumbling block was that no one in the community wanted to make the diagnosis, she said. It was key to understand what factors could promote family engagement, particularly in low-resource and diverse populations.

Dr. Zach Warren noted that while it was possible to accurately identify autism between 12 and 24 months in academic settings, there were no tools to achieve this at the community level, and there had not been an emphasis or funding of work on the uptake of screeners within community practice. Dr. Boyle added that low-cost diagnostic tools were needed.

Question 2: How can I understand what is happening?

Aspirational Goal: Discover how ASD affects development, which will lead to targeted and personalized interventions.

• Dr. Daniels began the discussion, by noting the key themes, which emerged from the Planning Group conference calls. Need to further define key research questions in the study of ASD and immune/metabolic mechanisms
• Need for more genotype/phenotype studies
• Need for more longitudinal studies
• Need for increased supply of brain tissue for post mortem studies and technology
• Need to standardize data collection

Dr. Koroshetz gave a brief overview of the sub-areas within Question 2, which include: fever, metabolic abnormalities, and the immune system; oxidative stress and mitochondrial disorders; neurodevelopment in females; the critical need for brain and tissue donation; genetics and syndromic conditions; co-occurring conditions, such as familial autoimmunity disorders, wandering, and sleep disorders; regression; and longitudinal studies. Ms. Redwood suggested using systems biology to identify common underlying pathways or mechanisms related to immune findings, metabolic findings, oxidative stress, and mitochondrial abnormalities. She also commented that there had been a shift in thinking to looking at the body along with the brain. Dr. Carlos Pardo-Villamizar said that the overlap of the immune system with genetic factors required greater attention. He also mentioned that there was interesting research on gut microbiota. Dr. Insel reminded the group that the aim of the Strategic Plan was to assess the knowledge that had been gained given the amount of money spent in the last 5 years. Dr. Pierce noted several post mortem studies,^{3, 4, 5} which revealed an increase in neuron numbers, but the neuron sizes were smaller. She suggested that this could be related to brain overgrowth that has been associated with ASD. This appeared to occur in the prenatal period.

Dr. Dawson briefly discussed the infant brain imaging study (IBIS), which had demonstrated changes in the development of white matter in 6- to 12-month-old infants, who later developed autism, based on diffusion tensor imaging (DTI) analysis.⁶ She noted that this was an important breakthrough in terms of understanding both the underlying biology, as well as understanding potential risk factors before the onset of the full syndrome. Dr. Pierce noted that there have been imaging studies that have shown that the infants with the most language impairment have the greatest degree of hypoactivity in the superior temporal gyrus - the area of the brain which plays an important role in language. However, it's unclear if this finding is predictive of language problems in school-aged children. Dr. Insel noted that imaging had shown that children with ASD have a relative disconnection between the amygdala and the fusiform area - the area that's important for social and face processing.⁸ Dr. Dawson said that she and colleagues were able to predict which children would and would not go on to develop language at age 6 based on differences in event related potentials at age 2.⁹ Dr. Nancy Minshew said that more sophisticated methods of looking at brain connectivity are now available. It has been observed that cortical systems of connectivity can be changed with intervention.^{10, 11, 12} Dr. Kevin Pelphrey said that brain imaging was showing that there are preserved systems in autism that can be recovered to some degree - both in terms of local specializations and in connectivity - through behavioral and drug intervention. Importantly for future drug development, changes from treatment can be seen in the brain first, before behavioral changes occur, providing an early indicator of treatment efficacy.

Ms. Alison Singer pointed out that there had been a shift in thinking with regard to the gender ratio - four boys for every girl developed autism. Based on advances in copy number variant findings (CNVs), girls appeared to be protected somehow from autism. Dr. Buxbaum agreed, noting that research indicated that females are much more likely to have a highly pathogenic CNV or disruptive CNV than males. In other words, there were some protective factors in females,¹³ and more genetic loading was required for ASD to manifest. Dr. Danielle Fallin said that one important advance had been the recognition that the maternal-fetal interaction or mother-child mechanism was critically important.

Dr. Insel summarized that last 5 years had seen a "deconstruction" of autism into components in order to better understand the whole. Dr. Koroshetz noted that while the approach had been informative, the potential downside it could be challenging to reassemble the components into systems, thus making it also important to also be studying autism from a systems approach.

Question 3: What caused this to happen and can it be prevented?

Aspirational Goal: Causes of ASD will be discovered that inform prognosis and treatments and lead to prevention/preemption of the challenges and disabilities of ASD

Dr. Daniels shared key themes from Planning Group conference calls:

• Exposome
• Longitudinal studies
• Building onto existing environmental research infrastructure
• Applying approaches from other fields

Dr. Cindy Lawler began with a brief overview of the main conclusions of the Planning Group discussions. Overall, more progress had been made in some areas than in others in the last 5 years. Great progress was made in genetics and epigenomics. Some progress was made in environmental risks, particularly given the ability to take advantage of large data sets. In some cases, funding had been primarily supported the development of infrastructure. Reliable accurate exposure measurement continues to pose a great obstacle. New analytic approaches are also needed. Also, translation of findings to the clinic or public health has not yet taken place, and there is a need to include more diverse populations in research.

Dr. Robertson asked why the inclusion of diverse populations remained a problem and how could this be addressed. Dr. Fallin noted that there had been some research that had included diverse populations, such as the Study to Explore Early Development (SEED) - which is a multi-year study to identify potential risk factors for children. However, she noted that different and creative strategies were needed to include underserved populations in studies. These strategies added considerable expense. Ms. Redwood noted that progress had been made in the number of publications addressing environmental toxicants. However, these studies were not as robust, and longitudinal studies required continued funding. Dr. Minshew commented that the recognition of the importance of exposures in the intrauterine time period (the maternal-fetal relationship) has been a major advance. Dr. Dawson highlighted the development of animal models for ASD such SHANK gene mutations in mice¹⁴ as another area of progress. These models made it possible to understand the pathophysiology in ways that could lead to drug discovery.

Dr. Buxbaum said that move to the technology-driven identification of specific ASD genes represents great progress with 7 to 10 new genes already identified. Another 120 genes would be reviewed for significant associations – as many as half might be worthy of additional investigation. Presently ASD-related genetic findings are able to be identified in 30 percent of individuals with ASD who undergo genetic testing, he said. Dr. Jeremy Veenstra-Vanderweele said that the model for how genetics contributes to ASD has changed. In the early years of the Strategic Plan, it was expected that genome-wide association studies (GWAS) were going to have a large effect on genomics. Instead, the very robust risk factors that have been identified in a large portion of the population were identified through genomic sequencing, which is a much more costly approach, but the yield has been greater. This was the reason why more than the recommended budget had been expended on these studies. Dr. Boyle said that building the infrastructure for population-level studies during the last 5 years should be considered progress as well.

It is now possible to study phenotype and phenotype-genotype relationships at a population level. It was commented that it was not yet possible to use risk factors to predict risk, but the hope was that perhaps this would be possible in the next 5 years because the large infrastructure made replication studies possible. Mr. Dan Hall said that big data was another area of progress. There were now 8,000 exomes available to the autism research community as part of the National Database for Autism Research (NDAR); this number would double soon. In addition, the NDAR now was linked with the Interactive Autism Network (IAN). This linkage would allow parents to share their location at the time of their child's birth. This information then could be linked to environmental exposures from large databases.

Dr. Julie Daniels said that another area of progress had been etiology. Little was known 5 years ago about etiology. The number of clues identified since then has been greater than expected, despite modest investment, she said. These included air pollution, pesticides, maternal exposures, epigenetics/genetics, and de novo mutations. Dr. Buxbaum said gene discovery would lead to targeted therapies in biologically-driven clinical trials. He also said that mapping of robust environmental findings to mechanistic findings was ongoing, which was great progress. Dr. Insel pointed out that it was now known that gene expression in the fetal brain was completely different than after birth, and this needed to be approached in a different way.¹⁵ There were also very large studies in early brain mapping, such as the BRAINSPAN project, that would provide valuable insight into this area, he said.

Also, research showed that epigenetic modifiers and how they acted in the brain were completely different than in other tissues.¹⁶ Targets for histone and methylation in brain were not the same as in the blood. Understanding this would require the ability to look inside the brain to understand how environment affected development. Lastly, he said that the genome in the brain was not the same genome in blood cells. There was the possibility of many large de novo variations or somatic variations in the brain that could be localized in one circuit or lineage that wouldn't be identified elsewhere.¹⁷ However, it's unclear if this was true for ASD. Dr. Dawson mentioned the Human Connectome Project, which is using imaging data from 1,200 healthy individuals (300 twins) to build a reference atlas for the "wiring" of the human brain. Dr. Koroshetz mentioned a pediatric brain imaging study, which included the development of white matter over time.¹⁸

Public Comment

Ms. Lisa Joyce Goes (presented by Ms. Megan Davenhall) commented on autism and gastrointestinal (GI) problems. She discussed the lack of standard care for autism in the United States and called for implementation of standards of autism care.

Ms. Carolyn Gammicchia discussed concerns about lack of choices in health care for those with those with autism and the difficulty in finding appropriate medical care. She also mentioned social institutionalization and segregation.

Ms. Linda Varsou discussed the issue of parental denial of autism diagnoses. She cited data from an Israeli study reporting denial of one parent as great as 57 percent. She proposed a small study to evaluate the prevalence of denial and identify possible solutions.

Ms. Michelle Guppy discussed GI disturbances, seizures, and pain. She advocated coverage of alternative care and whole-body treatment approaches. She also noted the need for services for older individuals with ASD.

Ms. Carol Fruscella discussed difficulties with housing waivers for people with ASD. Placements occur at a very slow pace in Ohio, she said. But, the Ohio waiver will not transfer to Pennsylvania, even if the family opened its own facility.

Ms. Dawn Loughborough discussed regressive autism and possible factors, including genetically-modified crops, metals, and vaccines. She suggested reframing regressive autism from a psychiatric behavioral condition to a response-to-the-environment condition.

Discussion of Strategic Plan Chapters (Continued)

Question 4: Which treatments and interventions will help?

Aspirational Goal: Interventions will be developed that are effective for reducing both core and associated symptoms, for building adaptive skills, and for maximizing quality of life and health for people with ASD.

Dr. Daniels shared key themes from Planning Group conference calls:

• Need for a pipeline of interventions
• Need for biomarkers and outcome measures
• Interventions for underserved populations - cost-effectiveness, ease of delivery/use
• Research on subtypes to enable personalized approaches

Dr. Insel noted the sense from the Planning Group was that this was an area where there has been a reasonable proportion of funding (about $20 million) in comparison to other areas, but that the funding was spread over too many studies (280), many of which were too small and underpowered to provide conclusive results. They agreed that the key concern in this area was the need for optimal biomarkers and outcome measures so that it would be possible to determine if interventions are working. Biomarkers could serve as surrogate markers for behavioral changes and speed trials considerably. Dr. Veenstra-Vanderweele said that while there's much more data available now, there is a tendency toward inadequate statistical power. In terms of biomedicine, there has been progress in the preclinical arena, but it needs to be expanded with the development of better measures and drug trials. Perhaps studies with more narrowly-defined groups – with better understanding of neurobiology – would help determine more effective outcome measures, he said.

Dr. Insel commented that they needed to find the right balance between investing in studies on interventions that are already is use versus studies that might identify promising new interventions. He noted that in other disorders there were examples of therapies that came into wide use without extensive clinical trials, and that data on their efficacy was gathered after the fact from community settings (e.g. deep brain stimulation for Parkinson's disease). Perhaps the ATN could provide an infrastructure to gather this type of information from the community on widely used but largely untested autism therapies, he said. Ms. Singer re-iterated that much work still needs to be done to standardize outcome measures and to determine more objective ways to measure the results of clinical trials. Progress has been delayed because of this. Dr. Wetherby said that a number of randomized controlled trial (RCT) results were expected soon. However, RCTs take a long time. Given this, Dr. Insel suggested that perhaps it was time to rethink the way that trials are designed and conducted.

Dr. Dawson suggested considering how to promote or enhance neuroplasticity through customized add-on treatments for children who don't respond dramatically to some early behavior interventions. It was also important to gain a better understanding of neuroplasticity throughout the lifespan. Dr. Robertson said that new technologies could also augment treatments, particularly with nonverbal individuals. Ms. Redwood suggested that interventions be considered in broad terms, to include nutritional interventions. Dr. Pierce said that it would be important to identify biomarkers for different subgroups of children in order to better guide treatment. Dr. Insel said that there were a number of studies investigating this area. However, the results would not be known for 2 years.

Dr. James Perrin noted that the Centers for Medicare & Medicaid Services (CMS) and the Agency for Healthcare Research and Quality (AHRQ) were funding seven Centers of Excellence/ten state projects on the development of pediatric outcome measures across a spectrum of areas through the Child Health Insurance Program (CHIP). Dr. Dawson said that the Planning Group decided that in order to speed progress, targeted funding was needed to develop sensitive assays for clinical trials for autism.

Question 5: Where can I turn for services?

Aspirational Goal : Communities will access and implement necessary high-quality, evidence-based services and supports that maximize quality of life and health across the lifespan for all people with ASD.

Dr. Daniels shared key themes from Planning Group conference calls:

• Health disparities: need to move from observation to action; begin to use experimental approaches to address issues
• Scaleability of training for service providers
• "Practice to research" models
• Building research partnerships between academia and states
• Building research onto state demonstration projects
• Need to develop and disseminate best practices

Dr. David Mandell provided a brief overview of the discussions of the Question 5 Planning Group conference calls. Health disparities were a significant issue, though observational studies of disparities in care for people with autism had been done. It was time to move from observation to experimentation. The Planning Group recommended moving toward experimental design to determine what strategies would best meet the needs of people who traditionally have been underserved. It was unclear whether disparity was geographic and could be addressed by improving services in traditionally underserved areas, or whether more culturally, ethnically, and racially specific programs were needed. Dr. Mandell said that there was also a big interest in scalability. The Planning Group noted that some funded programs had shown efficacy/effectiveness with small groups. However, how to scale up remained problematic. How programs are implemented at the population level and at the system level would have much broader effects. There was also considerable interest in "practice-to-research" - investigating the effectiveness of tools, programs, and practices already in use in the community.

Dr. Brian Boyd noted that there had been considerable research on implementation science in other fields. This information should be used to guide the movement of autism evidence-based practice into community settings. He said that there was also research on improvement science, which looked at how to work with large systems, quantify the issues, and measure the outcomes. He pointed out that there were existing methodologies that could be borrowed from other fields to translate autism-related practice to research. Dr. Silvana Borges said that while many small clinical trials showed promise with different interventions, they failed to show similar results in larger scale clinical trials. She questioned whether different trial designs might be necessary. This idea was relevant to the practice-to-research approach as well. Dr. Catherine Rice suggested that it might be more fruitful to look at functional skills, rather than autism or IQ as an outcome.

Dr. Perrin noted that there was a rapid move to deliver pediatric care as part of community-based teams of providers. This would allow pediatricians to give more attention to early identification, to better manage chronic conditions, and to connect families with services, he said. Dr. Aubyn Stahmer noted that school districts, community providers, were now interested in evidence-based practice, which represents a large change in the last 5 years. However, it was not yet possible to implement best practices, and training was needed. Dr. Dawson pointed out that there was now a much fuller understanding of the impact of autism on healthcare experience, economics, and how that relates to ethnic disparities. She also noted a new generation of randomized clinical trial design, in which laboratory interventions are being implemented in school settings.^{19, 20} Lastly, she said much work was being done to develop Web-based training programs for the dissemination of best practices in early intervention.^{21, 22} Ms. Singer added that it had become clear that efficacy in laboratory-based clinical trials did not always translate to the community. In particular, there was a strong need to focus on adults with ASD, and to study best practices for job coaching and adult support.

It was noted that there was now a more sophisticated understanding of disparities in the delivery of care to children and adults with autism. Also, self-directed care for community-based services was possible, and could result in more positive outcomes. However, there were no methods for bringing this approach to scale. The group agreed that with appropriate training and supports evidence-based practices could be used by community clinicians as in the laboratory, and they could achieve similar outcomes. In terms of cost-effectiveness, little is known, though more is known about costs than previously, Dr. Mandell noted. Dr. Dawson added that professional medical organizations had developed the first empirically supported physician guidelines for the treatment of GI conditions, sleep conditions, and attention deficit hyperactivity disorder (ADHD), which was a major step forward in terms of defining standards of care. Dr. Robertson said that they should address the Affordable Care Act (ACA).²³ Dr. Dawson said that it would be important also to mention that many states now offer coverage of insurance for early behavioral intervention because there is enough evidence for its efficacy. (In 2013, the IACC wrote a letter to the Secretary on this topic and received a response letter.) This is an example of a situation where research results have had an impact on policy and was a major achievement in terms of aspirational goals. Dr. Minshew said that there had been an improvement in the documentation of prevalence, which has led to greater community awareness.

Dr. Boyle noted that the CDC tracked public awareness through panel surveys that covered this time period. Dr. Paul Shattuck made the point that there were a number of outcomes without good measurements, such as: social services, service systems, employment supports, and quality of life. He said that there had been no real investment in measurement methodology innovations. Focus was needed on measuring results in ways that were relevant for policy and program decision - social indicators and program-level measures. Program-level measures are measures of the process: what's delivered to whom, and the short- and long-term outcomes of delivering those services. This should be the highest priority for the IACC, Dr. Shattuck said.

Question 6: What does the future hold, particularly for adults?

Aspirational Goal: All people with ASD will have the opportunity to lead self-determined lives in the community of their choice through school, work, community participation, meaningful relationships, and access to necessary and individualized services and supports.

Dr. Daniels shared key themes from Planning Group conference calls:

• Need improved models of state level coordination of services
• Need to understand the needs of adults in order to plan appropriate services
• Need a plan to provide services to adults who are diagnosed with ASD
• Need measures of quality of life

Dr. Mandell provided a brief overview of the discussions of the Question 6 Planning Group conference calls. Importantly, he noted that the Planning Group agreed that there was extraordinary overlap of objectives, with the same outcomes very often used for each objective. It would be better to think about of the components of the first objective individually - employment, postsecondary educational opportunities, community inclusion, self-determination, relationships, access to health services and community-based services. Each of these could be indicators of success. Dr. Insel noted that NIMH had recently released a series of RFAs fund research on transition to adulthood, access to services to support independence, and to foster community engagement in adults. Dr. Mandell said more work was needed to enhance state-level coordination of services, and to support studies of strategies for state-level coordination of services. Dr. Shattuck said that measures for quality of life in adults with ASD were needed. It was also important to understand which outcomes were meaningful to adults with ASD and their families. Patient-centered outcomes measurements could be useful, and their use should be considered. Dr. Shattuck said that the most important question for parents was, "What will happen to my child, when I'm no longer around?" Social networks and community cohesion may be the key to answering that question. The Planning Group noted that there was growing interest in research on social networks and health outcomes.

Dr. Robertson pointed out a study that found disparities for adults with ASD in mental health access, physical health access, access to drugs, and a number of other outcomes.²⁴ There was also a need for systemic research at national and state levels related to education, services, support, and outcomes for adults, such as a study on all aspects of employment for individuals with ASD. Dr. Robertson said that there simply was very little research on adults with ASD. Dr. Insel said that the Portfolio Analysis bore this out. Dr. Perrin said that there were now some measures of functioning for young adults and some associations of that functioning with the services received in late adolescence.

He stressed that life-course research - following individuals with autism from a very young age through adulthood - was essential. Adolescence was a particularly critical area of research need. Very little was known about pubertal changes in those with ASD, particularly the potential effects of endocrine changes in autism and on immune function. Dr. Rice observed that investment made in population-based cohorts had yet to be realized, but progress should be seen soon from some of these cohorts of children and adolescents, soon to be young adults. These cohorts should be considered for future studies to evaluate the needs and functioning of adults with ASD. Dr. Perrin pointed out the wide range of functioning among adults with autism. He said that understanding this range of function would help to design better programs and services. It was also pointed out that research could be done to learn from successful adults with ASD about their own strengths and the strategies, services, and tools that they have found most helpful.

Dr. Robertson noted that researchers in Oregon were in the process of developing a toolkit for adults with ASD to help them communicate with healthcare providers. Researchers will collect data from its use. Dr. Koroshetz pointed out that there were nationally-supported studies that had been on-going for 20 years or more that could provide longitudinal data. With new tools and methods, prospective databases and "big data" (such as electronic health records) might provide new avenues of research. For example, propensity analysis could be used to reduce bias from confounding variables that could affect treatment outcome.

Question 7: What other infrastructure and surveillance needs must be met?

Aspirational Goal: Develop and support infrastructure and surveillance systems that advance the speed, efficacy, and dissemination of Autism research.

Dr. Daniels shared key themes identified from Planning Group conference calls:

• Need to increase the number of samples in repositories
• Need for standards
• Need for solutions to address privacy, security issues
• Need to build onto established surveillance infrastructure

Ms. Singer provided an overview of the discussion of the Question 7 Planning Group. She noted that Question 7 was not added to the Strategic Plan until 2010; so progress could only be assessed for a 3-year period. She also pointed out that there had been investment in infrastructure that could not be captured in any of the 16 objectives. Also objectives were intended to address research gaps. However, the Planning Group agreed that substantial progress had been made in eight objectives; four were deemed to be either no longer necessary or completed (though funding for maintenance was still was required in some cases). Overall progress had been made in raising awareness and the development of large databases, such as NDAR and IAN. Dr. Paul Law noted that these large databases provided new ways to develop and conduct clinical trials quickly and creatively. One example was a randomized, controlled trial of omega-3 fatty acid supplementation for children with autism. Using data from IAN, researchers conducted a 10-week study by internet and phone.²⁵

Mr. Hall said that having these shared databases was a huge advance. NDAR now included 90 percent of all human subject research data from NIH, along with data from IAN and the Autism Genetic Resource Exchange (AGRE), which is a repository of autism-related biomaterials and phenotypic and genotypic data. Shortly NDAR would connect to data from the Simons Foundation. He said there were 80,000 shared research subjects currently. That number would jump to more than 100,000 in the next year. There were also 7,000 exomes available for computation. This data was in the computational "cloud" and could be accessed by researchers, using thousands of computers to analyze this data to look for biomarkers. Dr. Insel asked whether images were included in NDAR. Mr. Hall said that brain images were available for more than 2,000 individuals. Different computational approaches allowed for comparison of genomic and volumetric data from imaging, he said. The ability to layer data has been of interest to a number of laboratories. Very importantly their findings must be shared with NDAR, he said. This type of investigation has the potential to greatly accelerate discovery. Mr. Hall added that the number of NDAR users had jumped from 50 in 2012 to almost 300 (in 10 countries) in 2013. NDAR also had the capability to translate a publication and the associated cohorts directly into data. This capability offered considerable benefit for the corroboration of results.

Dr. Rice said that having surveillance infrastructure to build on - with multi-year data- would allow researchers to look beyond prevalence to other characteristics, and how these change with time. The CDC's Autism and Developmental Disabilities Monitoring (ADDM) Network, which is a group of programs tasked with estimating the number of children with ASDs and other developmental disabilities, is one example. Some states have performed additional data linkages to look at medication use or participation in juvenile justice system to better understand population-based cohorts within communities. Dr. Maureen Durkin suggested that two of the next areas of surveillance research should be functional status and age of diagnosis.

Dr. Thomas Lehner said that another area of progress was the greatly expanded the number of samples in  the NIMH Repository and Genomics Resource (NIMH-RGR) to more than 28,000 samples (a two-fold increase since 2008); about 6,200 cases were in the current distribution. Many of the samples had extensive phenotypic/genotypic information available. In addition, more than 20 fibroblast lines and 25 induced pluripotent stem cell (iPSC) lines were also part of the collection. However, no brain tissue is included at this biorepository he noted. Ms. Singer pointed out that the number of brain samples available for autism research had decreased since 2008 due to a freezer malfunction at the Harvard Brain Tissue Resource Center. Dr. Pardo-Villamizar noted that brains from control individuals were also needed. Dr. Insel mentioned the recent announcement of the launch of the new NIH NeuroBioBank, which would coordinate and house brain tissue samples at several sites nationwide. Samples would be available to qualified researchers working on a number of neurologic and psychiatric conditions. In addition, the privately-funded Autism BrainNet would also be a new source for brain tissue. It was noted that an educational campaign would be very useful.

Dr. Robertson pointed out the need to conduct surveillance research to understand the prevalence of ASD in adults in the U.S., an area which has been generally overlooked. He asked about expanding ADDM sites to include adults with ASD. Dr. Rice said that, indeed, there was a need for this surveillance, but that it posed additional challenges. For example, there was no system where a majority of adults might be accessed, as with children in schools. However, she said that if the intent was to understand adult needs, outcomes, and functioning, there were established cohorts that might offer better opportunities to answer these questions. Dr. Boyle added that ADDM surveillance of children with ASD started at 8 years; children in the first cohorts were now young adults. There was a brief discussion about prevalence differences between states, between rural/urban areas, and between ethnicities. Dr. Matthew Carey mentioned the United Kingdom survey of adult autism,²⁶ saying that it would be very useful to have similar information about quality of life, and what factors appeared to help adults with better outcomes. This information could be translated to possible services.

Ms. Redwood said that in terms of infrastructure, perhaps the Environmental Protection Agency's Tox21 program should be considered. Tox21 is a federal program that uses "robotics technology to screen thousands of chemicals for potential toxicity, using screening data to predict the potential toxicity of chemicals."²⁷ The program also can be used to characterize toxicity pathways. This information could be combined with information about genes related to those pathways as a new investigational method, said Ms. Redwood. Dr. Insel said that this technology would be useful for autism. However, a cellular "readout" for high-throughput screening was necessary, and this was not available for autism. Dr. Boyle mentioned that CDC's National Center for Environmental Health has an environmental health tracking program, which has accumulated and has used ambient environmental data from the states. This information had been linked with the ADDM network. There was a brief discussion of the influence of autism research in the United States, guided by the IACC, in world autism research and for research on other disorders in the United States. The group concluded that more work was needed to engage families in research and to join registries.

Synthesis, Wrap-up and Next Steps

Dr. Daniels outlined the process for finishing the final draft of the Strategic Plan. Refined drafts would be reviewed by the Planning Groups and external experts, and then the Subcommittee chairs. The proposed final draft would be circulated to the Committee, and a phone call would be scheduled for a vote by the end of December.

Dr. Insel said that the summary of each chapter should address the funding. Dr. Daniels added that if funding tables were deemed necessary for some chapters, these could be added. Dr. Insel circled back to several cross-cutting themes that had been raised during the day's discussion, including managing patient/family/community expectations, and ethical issues. Others included: diagnosis/detection before behavior development though earlier changes; the need for far more precise measurement tools; addressing lifespan issues throughout the Strategic Plan; and enhancing use of a "practice to research" approach to take advantage of data that could be gathered from currently used interventions and strategies. He proposed a brief summary of those issues. There was a brief discussion about providing an Executive Summary for the document. Dr. Insel and Mr. Robison volunteered to write a brief summary to address cross-cutting issues. There was also a discussion of addressing gaps and new research opportunities in the conclusion.

Dr. Insel thanked the participants.

Adjournment

The meeting was adjourned at 4:47 p.m.

Certification

I hereby certify these minutes are accurate.

/Thomas Insel/
Thomas Insel, M.D.
Chair, Interagency Autism Coordinating Committee

References

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² Pierce K, Carter C, Weinfeld M, et al. Detecting, studying, and treating autism early: the one-year well-baby check-up approach. J Pediatr. 2011 Sep;159(3):458-465.e1-6. [PMID: 21524759]

³ Courchesne E, Carper N, Akshoomoff N. Evidence of Brain Overgrowth in the First Year of Life in Autism. JAMA. 2003, Jul 16,290(3):337-44.

⁴Carper RA, Courchesne E. Localized enlargement of the frontal cortex in early autism. Biol Psychiatry. 2005 Jan 15;57(2):126-33

⁵Courchesne E, Pierce K. Brain overgrowth in autism during a critical time in development: implications for frontal pyramidal neuron and interneuron development and connectivity. Int J Dev Neurosci. 2005 Apr-May;23(2-3):153-70.

⁶ Wolff JJ, Gu H, Gerig G, et al. Differences in white matter fiber tract development present from 6 to 24 months in infants with autism. Am J Psychiatry. 2012 Jun;169(6):589-600. [PMID: 22362397]

⁷ Eyler LT, Pierce K, Courchesne E. A failure of left temporal cortex to specialize for language is an early emerging and fundamental property of autism. Brain. 2012 Mar;135(Pt 3):949-60. [PMID: 22350062]

⁸Owen JP, Marco EJ, Desai S, et al. Abnormal white matter microstructure in children with sensory processing disorders. Neuroimage Clin. 2013 Jun 23;2:844-53.

⁹ Kuhl PK, Coffey-Corina S, Padden D, et al. Brain responses to words in 2-year-olds with autism predict developmental outcomes at age 6. PLoS One. 2013 May 29;8(5):e64967. [PMID: 23734230]

¹⁰Dawson,G. Early behavioral intervention, brain plasticity, and the prevention of autism spectrum disorder. Dev Psychopathol. 2008 Summer;20(3):775-803.

¹¹Dawson G, Jones EJ, Merkle K, et al. Early Behavioral Intervention Is Associated With Normalized Brain Activity in Young Children With Autism. J AM ACAD Child Adolesc Psychiatry. 2012 Nov;51(11): 1150-9.

¹²Ventola PE, Oosting D, Anderson LC, et al. Brain mechanisms of plasticity in response to treatments for core deficits in autism. Prog Brain Res. 2013;207:255-72

¹³ Robinson EB, Lichtenstein P, Anckarsäter H, et al. Examining and interpreting the female protective effect against autistic behavior. Proc Natl Acad Sci U S A. 2013 Mar 26;110(13):5258-62. [PMID: 23431162]

¹⁴ Jiang YH, Ehlers MD. Modeling autism by SHANK gene mutations in mice. Neuron. 2013 Apr 10;78(1):8-27. [PMID: 23583105]

¹⁵ Naumova OY, Lee M, Rychkov SY, et al. Gene Expression in the Human Brain: The Current State of the Study of Specificity and Spatio-temporal Dynamics. Child Dev. 2013 Jan-Feb;84(1):76–88. [PMID: 23145569]

¹⁶ Davies MN, Volta M, Pidsley R, et al. Functional annotation of the human brain methylome identifies tissue-specific epigenetic variation across brain and blood. Genome Biol. 2012 Jun 15;13(6):R43. [PMID: 22703893]

¹⁷ McConnell MJ, Lindberg MR, Brennand KJ, et al. Mosaic copy number variation in human neurons. Science. 2013 Nov 1;342(6158):632-637.

¹⁸ Wolff JJ, Gu H, Gerig G, et al. Differences in white matter fiber tract development present from 6 to 24 months in infants with autism. Am J Psychiatry. 2012 Jun;169(6):589-600. doi: 10.1176/appi.ajp.2011.11091447.

¹⁹ Lawton K, Kasari C. Teacher-implemented joint attention intervention: pilot randomized controlled study for preschoolers with autism. J Consult Clin Psychol. 2012 Aug;80(4):687-93. [PMID: 2258276]

²⁰ Stahmer AC, Suhrheinrich J, Reed S, et al. What works for you? Using teacher feedback to inform adaptations of pivotal response training for classroom use. Autism Res Treat. 2012;2012:709861. [PMID: 23209896]

²¹ Odom SL, Boyd BA, Hall LJ, et al. Evaluation of comprehensive treatment models for individuals with autism spectrum disorders. J Autism Dev Disord. 2010 Apr;40(4):425-36. [PMID: 19633939]

²² Odom SL, Collet-Klingenberg L, Rogers SJ, et al. Evidence-Based Practices in Interventions for Children and Youth with Autism Spectrum Disorders. Preventing School Failure. 2010;54(4):275–282.

²³ H.R. 3590, 111th (2010) Patient Protection and Affordable Care Act (2010)

²⁴ Nicolaidis C, Raymaker D, McDonald K, Dern S, Boisclair WC, Ashkenazy E, Baggs A. Comparison of healthcare experiences in autistic and non-autistic adults: a cross-sectional online survey facilitated by an academic-community partnership. J Gen Intern Med. 2013 Jun;28(6):761-9. [PMID: 23179969]

²⁵ Stephen Bent, Robert L. Hendren, Tara Zandi, et al. Internet-Based, Randomized, Controlled Trial of Omega-3 Fatty Acids for Hyperactivity in Autism. J Am Acad Child Adolesc Psychiatry. 2014 Jun;53(6):658–666.

²⁶ Bancroft K, Batten A, Lambert S, Madders T. The way we are: autism in 2012. London: The National Autistic Society, 2012.

²⁷ United States Environmental Protection Agency, Computational Toxicology Research, Tox21

Back to Top

• Question 1 (Diagnosis)
• Question 2 (Biology)
• Question 3 (Risk Factors)
• Question 4 (Treatments and Interventions)
• Question 5 and 6 (Services and Lifespan)
• Question 7 (Infrastructure and Surveillance)

Question 1 (Diagnosis)

Lisa Croen, Ph.D.

Director, Kaiser Permanente Autism Research Program
Senior Research Scientist, Division of Research
Kaiser Permanente Northern California

Dr. Croen is a senior research scientist at the Division of Research (DOR), Kaiser Permanente Northern California, and director of the Kaiser Permanente Autism Research Program. Her research interests include the epidemiology of autism and other neurodevelopmental disorders, environmental exposures and gene-environment interaction, and adverse perinatal outcomes. Currently, Dr. Croen is the site principal investigator on two large federally funded autism studies: the Study to Explore Early Development (SEED) and the Early Autism Risk Longitudinal Investigation Study (EARLI). She is also co-investigator on the California Autism Twins Study (CATS) and, in collaboration with clinical colleagues, directs the Kaiser Permanente site of the Autism Treatment Network and Autism Intervention Program. Dr. Croen received her master's degree in public health and her doctorate in epidemiology, both from the University of California, Berkeley. Prior to coming to the DOR, she was an epidemiologist at the California Birth Defects Monitoring Program at the California Department of Public Health.

Ami Klin, Ph.D.

Chief of Autism and Related Disorders
Marcus Autism Center
Director, Division of Autism and Related Developmental Disabilities
Department of Pediatrics
School of Medicine
Emory University

Dr. Klin is chief of autism and related disorders of the Marcus Autism Center at Emory University (EU), a Georgia Research Alliance Eminent Scholar at EU, and director of the Division of Autism and Related Developmental Disabilities in the Department of Pediatrics at the EU School of Medicine. He is an internationally recognized psychologist and researcher. Dr. Klin's primary research focuses on the social mind and brain and aspects of autism from infancy through adulthood. In his most noted work, he used eye-tracking technology to visualize and measure social engagement, allowing him to monitor infants who potentially have an autism spectrum disorder (ASD). Dr. Klin's research goal is to identify individuals with ASD as early as possible so that potential therapies can have their maximal effect.

Dennis P. Wall, Ph.D.

Associate Professor of Pathology
Director, Computational Biology Initiative
Center for Biomedical Informatics
Harvard Medical School
Harvard University

Dr. Wall is an associate professor of pathology and director of the Computational Biology Initiative at Harvard Medical School, where his lab is developing novel approaches in systems biology to decipher the molecular pathology of autism spectrum disorder and related neurological disorders. He received his doctorate in integrative biology from the University of California, Berkeley, where he pioneered the use of fast-evolving gene sequences to trace population-scale diversification across islands. Then, with a postdoctoral fellowship award from the National Science Foundation (NSF), Dr. Wall went on to Stanford University to address broader questions in systems biology and computational genomics, work that resulted in comprehensive functional models for both protein mutation and protein interaction. Since joining the faculty at the Center for Biomedical Informatics at Harvard Medical School in 2006, he has been translating systems biology thinking to the field of autism research with the intent to develop effective early-stage diagnostics and targets for therapeutic intervention. Dr. Wall has served as a science advisor to several biotechnology and pharmaceutical companies, has developed cutting-edge approaches to cloud computing, and has received numerous awards, including an NSF postdoctoral fellowship, the Fred R. Cagle Award for Outstanding Achievement in Biology, the Vice Chancellor's Award for Research, three awards for excellence in teaching, and the Harvard Medical School Leadership Award.

Karen L. Pierce, Ph.D.

Assistant Director, UCSD Autism Center of Excellence
Assistant Adjunct Professor of Neurosciences
School of Medicine
University of California, San Diego

One of the most striking features of autism is the failure to develop or understand complex social relationships. The overarching goal of Dr. Pierce's research is to elucidate the neural underpinnings of these social deficits in autism. Her studies have utilized several approaches, including functional magnetic resonance imaging (fMRI), electroencephalography, and behavioral assays. In contrast to studies in adults, a relative endpoint of development, pediatric studies may provide more direct clues to the pathobiology of autism since investigations are occurring while developmental pathology is in process or soon thereafter. Dr. Pierce has successfully obtained imaging data on over several hundred children, both normal and those with autism. As principal investigator of the functional brain imaging core at the University of California, San Diego (UCSD) Autism Center of Excellence, established by the National Institutes of Health in 2007, she is one of only a handful of investigators at UCSD and nationwide who utilizes sleep fMRI as a research tool to study the functional brain development of babies at risk for autism as young as 12 months of age. Dr. Pierce also focuses on the use of eye-tracking technology to establish patterns of eye gaze that may signify risk in babies. In late 2010 she discovered that babies at risk for autism as young as 12 months old spend more time visually examining geometric patterns than they do social patterns. This newly described attribute of babies at risk for autism, which received worldwide press, may aid in earlier diagnoses.

Question 2 (Biology)

David G. Amaral, Ph.D.

University of California Distinguished Professor
Beneto Foundation Chair and Director of Research
MIND Institute
University of California, Davis

Dr. Amaral is a professor of psychiatry at the University of California, Davis (UC Davis) and since 1998 has been director of research at the MIND Institute, an affiliate of UC Davis, where he is engaged in interdisciplinary research into the causes and treatment of autism and related neurodevelopmental disorders. Dr. Amaral joined the UC Davis faculty as a professor in the Department of Psychiatry and the Center for Neuroscience and as an investigator at the California National Primate Research Center in 1991. Since 1995 he has been a professor of psychiatry in the UC Davis School of Medicine, with an appointment to the Center for Neuroscience. Dr. Amaral's interests include research involving multidisciplinary studies directed at determining the neuroanatomic, behavioral, and electrophysiologic organization and functions of brain systems that are involved in learning, memory, emotion, and social behavior carried out on the human brain and on animal models. He also conducts research on neurobiological correlates of autism.

Nancy J. Minshew, M.D.

Professor of Psychiatry and Neurology
School of Medicine
Director, Center of Excellence in Autism Research
University of Pittsburgh

Dr. Minshew is a professor of psychiatry and neurology at the University of Pittsburgh School of Medicine. She also directs the Center of Excellence in Autism Research. As an internationally known expert in the cognitive, neurological, and genetic bases of autism, Dr. Minshew's groundbreaking research has put the University of Pittsburgh on the map as a national leader in this evolving field. For more than 25 years, her research has focused on increasing understanding of the cognitive and brain bases of autism, which has led to the conceptualization of autism as a disorder of information processing and brain connectivity. Dr. Minshew received her medical degree from the Washington University School of Medicine and was trained as a behavioral child neurologist at The University of Texas Southwestern Medical School.

Carlos Pardo-Villamizar, M.D.

Associate Professor of Neurology and Pathology
School of Medicine
Johns Hopkins University

Dr. Pardo is an associate professor of neurology and pathology, a clinical neurologist, and principal investigator of the Neuroimmunopathology Laboratory at the John Hopkins University (JHU) School of Medicine. He is also a neurologist at the JHU Multiple Sclerosis Center and a member of the HIV Neurosciences Research Group. Dr. Pardo's clinical research interest and laboratory work focus on studies of the immunopathologic and molecular mechanisms of associated with neuroimmune disorders such as transverse myelitis (TM), multiple sclerosis, neuroAIDS, epilepsy, and autism; the roles of cytokines and chemokines in pathogenic mechanisms of neurological disorders; studies of biomarkers of neuroimmunologic disease in cerebrospinal fluid (CSF) and blood; and animal models of neuroimmunologic disorders. His interest in TM centers on management of acute myelitis, biomarkers of the disease in CSF and blood, and the role of neuroimmune factors in the pathogenesis of myelopathies. Along with other neurologists and health care providers in the JHU Transverse Myelitis Center, Dr. Pardo focuses on a comprehensive approach to the diagnosis and management of transverse myelopathies and the disorders associated with TM.

Kevin Pelphrey, Ph.D.

Professor of Psychology and Director, Child Neuroscience Laboratory
Harris Professor
School of Medicine
Yale University

Dr. Pelphrey is a cognitive neuroscientist who completed his doctoral studies in psychology at The University of North Carolina at Chapel Hill in 2001. He then undertook postdoctoral training in cognitive neuroscience at Duke University. Dr. Pelphrey's laboratory focuses on discovering the brain mechanisms underlying the development of different aspects of social cognition. This work employs cognitive neuroscience methods, including functional and structural magnetic resonance imaging, imaging genetics, visual scanpath recordings, and virtual reality techniques. The Child Neuroscience Laboratory conducts studies focusing on fundamental questions regarding typical and atypical developments of social cognition in children with and without autism. Dr. Pelphrey has received a Scientist Career Development Award from the National Institutes of Health (NIH), a John Merck Scholars Award for his work on the biology of developmental disorders, and the American Psychological Association's Boyd McCandless Award for distinguished early-career theoretical contributions to developmental psychology. His research program is funded by NIH, the Simons Foundation, Autism Speaks, and the National Science Foundation.

Question 3 (Risk Factors)

Joseph D. Buxbaum, Ph.D., M.Sc.

Professor of Psychiatry, Neuroscience, and Genetics and Genomic Sciences
Director, Seaver Autism Center for Research and Treatment
Icahn School of Medicine at Mount Sinai

Dr. Buxbaum is a world-renowned molecular geneticist, director of the Seaver Autism Center for Research and Treatment, and professor at the Icahn School of Medicine at Mount Sinai. He heads the Laboratory of Molecular Neuropsychiatry, which has identified genes in autism and taken the findings of the causes of autism and translated them into animal models where therapeutic approaches can be evaluated. In this context, Dr. Buxbaum has established the Autism Model Systems Initiative, which makes use of multiple experimental systems to ultimately develop and evaluate novel therapeutics in autism spectrum conditions. He is a lead investigator in the Autism Genetics Consortium, the Autism Genome Project, and the Autism Case Control Cohort and is a part of the Psychiatric Genetics Consortium. Dr. Buxbaum has received numerous awards for his research, including recognition from the New York University Child Study Center (2004), the American College of Neuropsychopharmacology (2005), and the Eden Institute Foundation for his "commitment and dedication to improving the quality of life in individuals with autism" (2008).

Margaret Danielle Fallin, Ph.D.

Professor and Chair, Department of Mental Health
Director, Wendy Klag Center for Autism and Developmental Disabilities
Genetic Epidemiologist, Genetic Epidemiology Division
Department of Epidemiology
Bloomberg School of Public Health
Johns Hopkins University

Dr. Fallin is the principal investigator (PI) for the Maryland Early Autism Risk Longitudinal Investigation Study (EARLI) site at the Johns Hopkins University (JHU) Bloomberg School of Public Health (BSPH). She is an experienced genetic epidemiologist who heads the Genetic Epidemiology Division in the Department of Epidemiology at BSPH. Dr. Fallin has expertise in complex statistical genetics methods and in overseeing and directing fieldwork for epidemiologic and genetic studies of neuropsychiatric conditions, including autism, schizophrenia, and Alzheimer's disease. She is also the Maryland PI for the Study to Explore Early Development (SEED), a multisite case-cohort study to identify genetic and environmental risk factors for autism, which is funded by the U.S. Centers for Disease Control and Prevention. In addition to these two large autism studies, Dr. Fallin oversees genetic epidemiology aspects of the JHU Center for Excellence in Genomic Science (CEGS), which focuses on the epigenetics of common diseases. CEGS is investigating the epigenetic mechanisms of autism and schizophrenia and the interactions of genes and the environment using epigenetics.

Irva Hertz-Picciotto, Ph.D., M.P.H

Professor, Department of Public Health Sciences
School of Medicine
Principal Investigator, CHARGE Study and the MARBLES Study
University of California, Davis

Dr. Hertz-Picciotto is an internationally renowned environmental epidemiologist with more than 200 scientific publications addressing environmental exposures, their interactions with nutrition, and their influences on pregnancy, newborns, and child development. She leads a program of interdisciplinary research on the environmental contributors to autism and other neurodevelopmental disorders and on the mechanisms of pathogenesis. Dr. Hertz-Picciotto's studies involve collaborations with the fields of immunology, molecular biology and microbiology, genomics, environmental sciences, nutrition, and biostatistics. She launched the CHARGE Study, the first large comprehensive population-based study of environmental factors in autism, and the landmark MARBLES Study of early environmental and biologic predictors of autism. Dr. Hertz-Picciotto also collaborates on the multisite Early Autism Risk Longitudinal Investigation Study (EARLI) of risk factors for autism spectrum disorder and directs the Northern California Center for the National Children's Study. Other projects have focused on exposure-related behaviors, polychlorinated biphenyls and pesticides in relation to early growth and development, lead exposure during pregnancy, and the relationship of air pollutants to immune development and early acute respiratory illness. She has chaired or served several state, national, and international advisory panels and was elected president of two of the largest professional epidemiology societies. Dr. Hertz-Picciotto sits on the editorial boards of major scientific journals in epidemiology, environmental health, and autism and has taught epidemiologic methods on four continents. In 2011 she received the Goldsmith Lifetime Achievement Award from the International Society for Environmental Epidemiology.

Craig J. Newschaffer, Ph.D., S.M.

Professor and Chair,Department of Epidemiology and Biostatistics
School of Public Health
Director, A.J. Drexel Autism Institute
Drexel University

Dr. Newschaffer is a professor and chair of the Department of Epidemiology and Biostatistics at Drexel University (DU) after 7 years on the faculty of the Department of Epidemiology at the Johns Hopkins University (JHU) Bloomberg School of Public Health, where he founded and directed the Hopkins Center for Autism and Developmental Disabilities Epidemiology. At DU Dr. Newschaffer leads an NIH Autism Center of Excellence project studying a large cohort of mothers of children with autism at the start of subsequent pregnancies. This project, the Early Autism Risk Longitudinal Investigation Study (EARLI), is designed specifically to study prenatal, perinatal, and neonatal autism risk factors and biomarkers. He is also a principal investigator on other major autism epidemiology initiatives, including a national network established to monitor secular trends in autism prevalence and a multisite study funded by the U.S. Centers for Disease Control and Prevention that will be the largest case-control study of autism fielded to date. Dr. Newschaffer is a co-investigator on the Baltimore site of the National Children's Study (NCS), a prospective epidemiologic study of a representative sample of 100,000 U.S. pregnancies, including serving on the NCS's national autism and mental health working teams. He is an associate editor of the American Journal of Epidemiology and a member of the editorial boards of the journals Autism Research and Developmental Epidemiology; is a member of the science advisory board for the national research and advocacy organization Autism Speaks; and serves on advisory boards for the Commonwealth of Pennsylvania's Bureau of Autism Services and the Delaware Birth Defects and Autism Registry. Dr. Newschaffer holds a master's degree in health policy from Harvard University and a doctoral degree in epidemiology from JHU and serves as an adjunct professor of epidemiology at JHU.

Question 4 (Treatments and Interventions)

Scott Badesch

President and Chief Executive Officer
Autism Society

As a father of a young adult with autism, Mr. Badesch led his local Autism Society chapter before joining the national office in 2010 as senior vice president of development and operations. He has more than 30 years of experience in nonprofit organizations, particularly in fundraising, chapter outreach, advocacy and public policy, and transformation of organizations. Before joining the Autism Society national office, Mr. Badesch served as president and CEO of the Autism Society of North Carolina. Other experience includes 14 years as president and CEO of the United Way of Palm Beach County, Florida, and 6 years as president and CEO of the United Way of South Carolina. He lives in Silver Spring, Maryland, and has four children.

Jeremy M. Veenstra-VanderWeele, M.D.

Assistant Professor of Clinical Psychiatry and Pediatrics
Vanderbilt Kennedy Center for Research on Human Development
Vanderbilt Brain Institute
Vanderbilt University

Dr. Veenstra-VanderWeele is an assistant professor of clinical psychiatry and pediatrics and a pharmacology investigator at the Vanderbilt Kennedy Center for Research on Human Development at the Vanderbilt Brain Institute, Vanderbilt University. He received his M.D. degree from the University of Chicago's Pritzker School of Medicine, graduating with honors. Dr. Veenstra-VanderWeele's postdoctoral training in molecular neuroscience involved working on mouse models related to autism spectrum disorder (ASD). His research group works on both mouse models related to autism and translational clinical trials in children and adults with ASD, particularly in fragile X syndrome. As part of the Vanderbilt Evidence-Based Practice Center, Dr. Veenstra-VanderWeele was involved in the recent Agency for Healthcare Research and Quality's systematic review of treatments for children with ASD. He is a member of the American Medical Association, American Psychiatric Association, and American Academy of Child and Adolescent Psychiatry. Dr. Veenstra-VanderWeele has written numerous book chapters and has published scientific articles in the fields of neuroscience and psychiatry in journals such as Neuropsychopharmacology, Molecular Psychiatry, and European Journal of Pharmacology.

Paul P. Wang, M.D.

Senior Vice President and Head of Medical Research
Autism Speaks

Paul Wang, M.D., serves as Senior Vice President and Head of Medical Research at Autism Speaks. He is a developmental-behavioral pediatrician, trained at Harvard College, Yale School of Medicine, the Salk Institute, and Children's Seashore House/CHOP. During his academic career, Dr. Wang engaged in research on the development of language and memory, and their neurobiological basis, in children with genetic syndromes. He also worked as a clinician, providing care for children with various developmental disability diagnoses, including autism spectrum disorders (ASD). Prior to joining Autism Speaks, Dr. Wang also worked in the private sector, at Seaside Therapeutics, a biotech company that was founded to translate the basic science of learning and memory into targeted treatments for fragile X syndrome and ASD. Dr. Wang continues to serve in professional and academic leadership roles at organizations including the American Academy of Pediatrics and the Society for Developmental-Behavioral Pediatrics, and he works as a reviewer and consultant for the NIH, the CDC, and other federal and patient advocacy organizations.

Amy Wetherby, Ph.D., CCC-SLP

Professor, Department of Clinical Sciences
Director, Autism Institute
Laurel Schnendel Professor, Department of Communication Disorders
Florida State University College of Medicine

Dr. Wetherby is a professor in the Department of Clinical Sciences, director of the Autism Institute in the College of Medicine, and the Laurel Schendel Professor of Communication Disorders at Florida State University (FSU). She has 30 years of clinical experience and is a fellow of the American Speech-Language-Hearing Association. Dr. Wetherby has published extensively and presents regularly at national conventions on the early detection of children with autism spectrum disorder (ASD) and intervention for children with ASD using the SCERTS® model. She is the project director of a doctoral leadership training grant specializing in autism funded by the U.S. Department of Education (ED). Dr. Wetherby served on the National Academy of Sciences Committee for Educational Interventions for Children with Autism and is executive director of the FSU Center for Autism and Related Disabilities. She is project director of the FIRST WORDS Project, a longitudinal research investigation on early detection of ASD and other communication disorders, which is funded by ED, the National Institutes of Health, and the U.S. Centers for Disease Control and Prevention. Dr. Wetherby is the principal investigator of an early-treatment study teaching parents of toddlers with ASD how to support social communication and play in everyday activities; the study is funded by Autism Speaks and the National Institute of Mental Health.

Question 5 and 6 (Services and Lifespan)

Brian Boyd, Ph.D.

Assistant Professor, Division of Occupational Science
School of Medicine
The University of North Carolina at Chapel Hill

Dr. Boyd joined the Division of Occupational Science (DOS) faculty at The University of North Carolina at Chapel Hill (UNC-CH) in August 2009. Previously, he worked at the Frank Porter Graham Child Development Institute at UNC-CH. Dr. Boyd's research interests center on the repetitive and inflexible patterns of behavior displayed by young children with autism. He is interested in the development of behavioral interventions to diversify the child's restricted interests and promote the child's participation in family and community life. Dr. Boyd's interest in the repetitive behaviors of children with autism is based on his life experiences as an assistant classroom teacher and school consultant.

James M. Perrin, M.D.

Professor of Pediatrics
Harvard Medical School
Harvard University

Dr. Perrin is a professor of pediatrics at Harvard Medical School, former director of the Division of General Pediatrics at Massachusetts General Hospital for Children, and past associate chair of pediatrics for research at Massachusetts General Hospital (MGH). He founded the MGH Center for Child & Adolescent Health Research and Policy, a multidisciplinary research and training center with an active fellowship program in general pediatrics, and directed the Center for over 15 years. Dr. Perrin is president-elect of the American Academy of Pediatrics (AAP), former chair of the AAP Committee on Children with Disabilities, and past president of the Ambulatory (Academic) Pediatric Association. He also co-chaired an AAP committee to develop practice guidelines for attention deficit hyperactivity disorder and a group advising AAP on the implementation of the guidelines. Dr. Perrin's research has examined asthma, middle ear disease, children's hospitalization, health insurance, and childhood chronic illness and disabilities, with recent emphases on the epidemiology of childhood chronic illness and organization of services for the care of children and adolescents with chronic health conditions. He heads the Clinical Coordinating Center (based at MGH) for the national Autism Treatment Network and the Autism Intervention Research Network on Physical Health, a multisite collaborative aiming to improve evidence-based care for children and adolescents with autism spectrum disorder. Dr. Perrin also directed the Evidence Working Group reporting to the Maternal and Child Health Bureau for the Secretary's Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children. He is also the founding editor of Academic Pediatrics (formerly Ambulatory Pediatrics), the journal of the Academic Pediatric Association. Dr. Perrin has served on Institute of Medicine committees on maternal and child health under health care reform, the quality of long-term care services in home- and community-based settings, enhancing Federal health care quality programs, and disability in America; on the National Commission on Childhood Disability; and on the Disability Policy Panel of the National Academy of Social Insurance. His experience includes 2 years in Washington, DC, working on rural primary care development and migrant health. After completing a fellowship at the University of Rochester, Dr. Perrin developed and ran a rural community health center in farming communities located between Rochester and Buffalo, New York. He received a Robert Wood Johnson Foundation Investigator Award in Health Policy Research and also served as a member of the National Advisory Council for the Agency for Healthcare Research and Quality. Dr. Perrin graduated from Harvard College and the Case Western Reserve University School of Medicine, completed his residency and fellowship training at the University of Rochester, and has served on the faculties of the University of Rochester and Vanderbilt University.

Paul Shattuck, Ph.D.

Leader, Research Program Area on Life Course Outcomes
A.J. Drexel Autism Institute
Associate Professor
School of Public Health
Drexel University

Dr. Shattuck leads the A.J. Drexel Autism Institute's Research Program Area on Life Course Outcomes. Most of his current research is aimed at understanding services and related outcomes among youth with autism as they leave high school and transition to young adulthood. Dr. Shattuck's work has been funded by the National Institute of Mental Health, the National Science Foundation, the U.S. Department of Education's Institute for Education Sciences, Autism Speaks, the Emch Foundation, and the Organization for Autism Research. His research publications have appeared in high-impact scientific journals, including Pediatrics, Psychiatric Services, Archives of Pediatrics and Adolescent Medicine, American Journal of Public Health, and Journal of the American Academy of Child and Adolescent Psychiatry. Dr. Shattuck has written op-ed pieces that have appeared in leading national newspapers, including The New York Times. In 2009 his study on the age of diagnosis among children with autism was recognized as one of the most important autism studies of the year by both Autism Speaks and the Federal Interagency Autism Coordinating Committee, which recognized Dr. Shattuck's 2011 study on the use of services by adults with autism as one of the 20 most impactful scientific studies in the field of autism. Dr. Shattuck's 2012 study on postsecondary job and education outcomes was recognized by Autism Speaks as one of the top 10 research advances of the year. Prior to joining the A.J. Drexel Autism Institute, he served as a faculty member at the George Warren Brown School of Social Work at Washington University in St. Louis. Dr. Shattuck's professional background includes nonprofit fundraising and program development, and his education includes degrees in social work and sociology and postdoctoral training in epidemiology.

Aubyn C. Stahmer, Ph.D., M.A.

Research Scientist
Rady Children's Hospital and University of California, San Diego

Dr. Stahmer is a research scientist at the University of California, San Diego (UCSD) and Rady Children's Hospital. She serves as the research and clinical coordinator of the Autism Intervention Center, which has been in operation for over 10 years. Dr. Stahmer has published many scholarly articles on inclusion and early-intervention services in the area of autism. At UCSD she serves as associate director of the treatment core of the Autism Center of Excellence award. Dr. Stahmer is the principal investigator of a grant from the U.S. Department of Education designed to examine methods of translating pivotal response training into classrooms. Her current interests include the study of early-intervention systems for children with autism and the translation of evidence-based practices into community settings.

Zachary E. Warren, Ph.D.

Director, Treatment and Research Institute for Autism Spectrum Disorders
Associate Professor of Pediatrics, Psychiatric, and Special Education
Vanderbilt Kennedy Center for Research on Human Development
Vanderbilt University

As director of the Vanderbilt Kennedy Center (VKC) Treatment and Research Institute for Autism Spectrum Disorders (TRIAD), Dr. Warren leads the autism evaluation and diagnostic clinics within the Department of Pediatrics, Division of Developmental Medicine and provides oversight of TRIAD outreach and training. In collaboration with colleagues across campus and at VKC, he is developing plans for more streamlined recruitment and a centralized autism database, and he and colleagues are developing an autism-focused postdoctoral training program for psychologists. Dr. Warren facilitates communication and community-building activities for autism-related clinical and research activities within TRIAD; the University Center for Excellence in Developmental Disabilities Education, Research, and Service; Leadership Education in Neurodevelopmental and Related Disabilities; and Intellectual and Developmental Disabilities Research Center programs and with faculty in the fields of pediatrics, psychiatry, special education, psychology, and hearing and speech sciences.

Nancy Cheak-Zamora, Ph.D., M.A.

Assistant Professor, Department of Health Sciences
School of Health Professions
University of Missouri

Dr. Cheak-Zamora has worked in both clinical and academic settings conducting research in applied behavior analysis therapy for children with autism spectrum disorder, HIV care, health communication and literacy, and examination of health status and health insurance duration. She has received several service and leadership awards, including the Dr. James R. Kimmey Service and Leadership Award and the Mary Gumble Levy Outstanding Doctoral Student Award. Dr. Cheak-Zamora's research centers on the utilization of complex measurement tools to evaluate health status and health disparities in uninsured and chronically ill persons and within various populations with limited access to health care. Other areas of interest include HIV prevention and care, autism research, and health policy.

Question 7 (Infrastructure and Surveillance)

Julie Daniels, Ph.D., M.P.H.

Associate Professor of Epidemiology and of Maternal and Child Health
Gillings School of Global Public Health
Director, North Carolina Center for Autism and Developmental Disabilities Research and Epidemiology
The University of North Carolina at Chapel Hill

Dr. Daniels is an associate professor of epidemiology and of maternal and child health at The University of North Carolina School of Public Health. She also directs the North Carolina Center for Autism and Developmental Disabilities Research and Epidemiology, which is funded by the U.S. Centers for Disease Control and Prevention. Dr. Daniels' research focuses on perinatal environmental exposures that affect infant and child health and development.

Maureen Durkin Ph.D., Dr.P.H., M.P.H.

Investigator, Waisman Center
Professor, Departments of Population Health Sciences and of Pediatrics
School of Medicine
University of Wisconsin-Madison

Dr. Durkin is an epidemiologist, a Waisman Center investigator, a professor of population health sciences and of pediatrics, and an affiliate of the Wisconsin Population Health Institute and the Center for Demography and Ecology, University of Wisconsin-Madison. Her research interests include the epidemiology, prevention, antecedents, and consequences of neurodevelopmental disabilities and childhood injuries, both abroad and within the United States. Dr. Durkin has collaborated in the development of cross-cultural methods for screening for developmental disabilities and methods for surveillance of childhood injuries and has directed international studies of the prevalence and causes of neurodevelopmental disabilities in low-income countries. She also has directed a cohort study of neuropsychologic outcomes of neonatal brain injuries associated with preterm birth and is currently a principal investigator on the Wisconsin Surveillance of Autism and Other Developmental Disabilities System, the National Children's Study Waukesha County Vanguard Center, and a study of neurodevelopmental outcomes of 2-methylbutyryl-CoA dehydrogenase deficiency detected in newborn screening.

Dan Hall, M.B.A.

Manager, National Database for Autism Research
National Institute of Mental Health
National Institutes of Health /OMNITEC Solutions, Inc.

Mr. Hall is the father of a 17-year-old son on the autism spectrum and a professional consultant to OMNITEC Solutions, Inc., where he has been serving as manager of the National Database for Autism Research (NDAR) since 2007. Prior to his NDAR work, Mr. Hall led the implementation of the National Institutes of Health's eRA Commons and the Substance Abuse and Mental Health Services Administration's Digital Access to Medication project. He received his B.S. degree from the University of Maryland and his M.B.A. degree from George Washington University.

Paul A. Law, M.D., M.P.H.

Director, Medical Informatics
Kennedy Krieger Institute

Dr. Law earned his medical degree from Johns Hopkins University (JHU) in 1997 and received a master's of public health degree from the JHU Bloomberg School of Public Health in the previous year. He completed his pediatric residency in 2000 and a health informatics fellowship in 2005, both at JHU. Dr. Law has extensive experience in the design and implementation of health research studies in autism and international health. In 1996 he began a collaborative project with the Cure Autism Now Foundation to develop the Internet System for Assessing Autistic Children (ISAAC). Currently, ISAAC is used by projects at the U.S. Centers for Disease Control and Prevention, the National Institutes of Health, and academic institutions (both domestically and internationally). Dr. Law joined the Kennedy Krieger Institute (KKI) in 2005 to lead a project to develop the Interactive Autism Network (IAN), a national autism database, and to support other researchers at KKI through the discipline of health research informatics. As a consultant to the World Health Organization, he is working on an initiative to develop an international online community of child health researchers in developing countries. Dr. Law's international work has taken him to India, Bangladesh, Egypt, and Haiti. He is a member of the American Academy of Pediatrics, American Medical Informatics Association, and Delta Omega, the Honorary Society in Public Health.

Thomas Lehner, Ph.D., M.P.H.

Chief, Genomics Research Branch
Director, Office of Genomics Research Coordination
National Institute of Mental Health
National Institutes of Health

Dr. Lehner is director of the Office of Genomics Research Coordination and chief of the Genomics Research Branch at the National Institute of Mental Health (NIMH), National Institutes of Health (NIH). He oversees and coordinates all efforts associated with genomics research for NIMH and is the principal advisor to the NIMH Director and the NIMH Scientific Director for issues related to genetics and genomics. A native of Vienna, Austria, Dr. Lehner received a Ph.D. in genetics from the University of Vienna and an M.P.H. in epidemiology from Columbia University. Since joining NIMH in 2004, Dr. Lehner has been instrumental in expanding the NIMH genomics repository at Rutgers University and promoting the team science approach in genomics by forging international collaborative efforts and consortia. He has been active in consolidating genomics resources for the research community through the database of Genotypes and Phenotypes (dbGaP) and the NIMH repository databases to provide comprehensive access to genome-wide genomic data from large cohorts with mental disorders.

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• Oral Public Comments (PDF – 211 KB)
• Written Public Comments (PDF – 583 KB)

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• 2012 IACC Strategic Plan Update
• 2011 IACC Strategic Plan

Conclusions by Objective

• Conclusions by Objective for Question 1 (Diagnosis) (PDF – 136 KB)
• Conclusions by Objective for Question 2 (Biology) (PDF – 135 KB)
• Conclusions by Objective for Question 3 (Risk Factors) (PDF – 153 KB)
• Conclusions by Objective for Question 4 (Treatments and Interventions) (PDF – 157 KB)
• Conclusions by Objective for Question 5 (Services) (PDF – 142 KB)
• Conclusions by Objective for Question 6 (Lifespan) (PDF – 134 KB)
• Conclusions by Objective for Question 7 (Infrastructure and Surveillance) (PDF – 158 KB)

Compiled Objective Charts

• Compiled Objective Chart for Questions 1 - 7 2008 to 2012 (PDF – 513 KB)

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• Meeting Transcript (PDF – 575 KB)

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• IACC Meeting Full Slide Set (PDF – 121 KB)

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