Full Committee Meeting - October 26, 2016

Topic	Topic Description
Date:	Wednesday, October 26, 2016
Time:	9:00 a.m. to 5:00 p.m. Eastern
Place:	National Institutes of Health 31 Center Drive Building 31, C Wing, 6th Floor, Conference Room 6 Bethesda, MD 20892 Map and Directions
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. Online pre-registration
Webcast:	https:videocast.nih.gov
Conference Call Access:	Dial: 888-469-2037 Access code: 3353029
Agenda:	To discuss business, updates, and issues related to ASD research and services activities. The Committee will discuss updates of the IACC Strategic Plan.
Cost:	The meeting is free and open to the public.
Access:	Medical Center Metro Station (Red Line)
Deadlines:	Notification of intent to present oral comments: Wednesday, October 12, 2016 by 5:00 p.m. ET Submission of written/electronic statement for oral comments: Tuesday, October 18, 2016 by 5:00 p.m. ET Submission of written comments: Tuesday, October 18, 2016 by 5:00 p.m. ET Please note: Written public comments and statements accompanying oral public comments should be sent to IACCPublicInquiries@mail.nih.gov. For IACC Public Comment guidelines please see:http://iacc.hhs.gov//meetings/public-comments/guidelines/
Contact Person:	Mrs. Angelice Mitrakas Office of Autism Research Coordination National Institute of Mental Health, NIH 6001 Executive Boulevard, NSC, Room 6182A Rockville, Maryland 20852 Phone: (301) 435-9269 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. ET on Wednesday, October 12, 2016, with their request to present oral comments at the meeting, and a written/electronic copy of the oral presentation/statement must be submitted by 5:00 p.m. ET on Tuesday, October 18. A limited number of slots for oral comment are available, and in order to ensure that as many different individuals are able to present throughout the year as possible, any given individual only will be permitted to present oral comments once per calendar year (2016). Only one representative of an organization will be allowed to present oral comments in any given meeting; other representatives of the same group may provide written comments. If the oral comment session is full, individuals who could not be accommodated are welcome to provide written comments instead. Comments to be read or presented in the meeting must not exceed 250 words or 3 minutes, but a longer version may be submitted in writing for the record. Commenters going beyond the 250 word or 3 minute time limit in the meeting may be asked to conclude immediately in order to allow other comments and presentations to proceed on schedule. Any interested person may submit written public comments to the IACC prior to the meeting by e-mailing the comments to IACCPublicInquiries@mail.nih.gov or by submitting comments at the web link: https://iacc.hhs.gov/meetings/public-comments/submit/index.jsp by 5:00 p.m. ET on Tuesday, October 18, 2016. 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. ET on Tuesday, October 18, 2016 will be presented to the Committee prior to the meeting for the Committee’s consideration. Any written comments received after the 5:00 p.m. ET, October 18, 2016 deadline through October 25, 2016 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. Attachments of copyrighted publications are not permitted, but web links or citations for any copyrighted works cited may be provided. 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.
Please Note:	Remote Access: The meeting will be open to the public through a conference call phone number and webcast live on the Internet. Members of the public who participate using the conference call phone number will be able to listen to the meeting but will not be heard. If you experience any technical problems with the webcast or conference call, please send an e-mail to iaccpublicinquiries@mail.nih.gov Special Accommodations: Individuals wishing to 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 five 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 and 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. Information about the IACC is available on the website: http://www.iacc.hhs.gov.

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Time	Event
9:00 a.m.	Welcome, Introductions, Roll Call, and Approval of Minutes Joshua Gordon, M.D., Ph.D. Director, National Institute of Mental Health (NIMH) and Chair, IACC Bruce Cuthbert, Ph.D. Director, Research Domain Criteria Unit, NIMH Susan Daniels, Ph.D. Director, Office of Autism Research Coordination, NIMH, and Executive Secretary, IACC
10:00	Update from Office of the National Autism Coordinator Thomas Novotny, M.D. Deputy Assistant Secretary for Health and National Autism Coordinator Department of Health and Human Services
10:05	Tackling Early Death in Autism Jon Spiers Chief Executive Autistica, United Kingdom James Cusack, Ph.D. Director, Science Autistica, United Kingdom
10:55	Morning Break
11:10	Committee Business Susan Daniels, Ph.D. Director, Office of Autism Research Coordination, NIMH, and Executive Secretary, IACC IACC Strategic Plan Update Update on working group activities Discussion of duplication of effort statement Discussion of objective development Discussion of budgetary requirements
12:00 p.m.	Lunch
1:00	Oral Public Comment Session
1:30	Summary of Written Public Comments Karen Mowrer, Ph.D. Health Science Policy Analyst Office of Autism Research Coordination, NIMH
1:40	Request for Public Comment for IACC Strategic Plan Susan Daniels, Ph.D. Director, Office of Autism Research Coordination, NIMH, and Executive Secretary, IACC
1:45	IACC Committee Member Discussion of Public Comments
2:00	Discussion of Nominated 2016 Science Advances
2:30	Afternoon Break
2:45	Panel on Autism in Women and Girls 2:45 Introduction Kevin Pelphrey, Ph.D. IACC Member and Panel Chair Director, Autism and Neurodevelopmental Disorders Institute George Washington University and Children’s National Medical Center 2:50 Somer Bishop, Ph.D. Assistant Professor University of California, San Francisco 3:10 The Autism Sisters Project Alison Singer, M.B.A. IACC Member President, Autism Science Foundation 3:20 The Role of Genetics and Sex-Differential Biology in Risk for Autism Donna Werling, Ph.D. Postdoctoral Scholar, Department of Psychiatry University of California San Francisco School of Medicine 3:40 Listening to our Daughters: How Working with Girls and Women on the Spectrum Informs our Understanding of Autism Kevin Pelphrey, Ph.D. IACC Member and Panel Chair Director, Autism and Neurodevelopmental Disorders Institute George Washington University and Children’s National Medical Center 4:00 Questions and Discussion
4:15	Round Robin
4:45	Closing Remarks
5:00	Adjournment

Schedule is subject to change. Meeting may end prior to or later than 5:00 PM depending on the needs of the committee. For more information on upcoming events, please see http://iacc.hhs.gov/meetings/iacc-meetings/

Next IACC Full Committee Meeting:

• January 13, 2017

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The Interagency Autism Coordinating Committee (IACC, also referred to as “the Committee”) convened a meeting on Wednesday, October 26, 2016, from 9:00 a.m. to 4:46 p.m. in Building 31 on the main National Institutes of Health (NIH) campus in Bethesda, Maryland.

In accordance with Public Law 92-463, the meeting was open to the public. Joshua A. Gordon, M.D., Ph.D, Director, National Institute of Mental Health (NIMH) and Chair of the IACC chaired the meeting.

Participants:

Joshua Gordon, M.D., Ph.D., Chair, IACC, Director, National Institute of Mental Health (NIMH); Bruce Cuthbert, Director, Research Domain Criteria Unit Office National Institute of Mental Health (NIMH); Susan Daniels, Ph.D., Executive Secretary, IACC, Office of Autism Research Coordination (OARC), (NIMH); David Amaral, Ph.D., University of California (UC) Davis MIND Institute; James F. Battey, M.D., Ph.D., National Institute on Deafness and Other Communication Disorders (NIDCD); Josie Briggs, M.D., Director, National Center for Complementary and Alternative Medicine, NIH (representing Francis S. Collins, M.D., Ph.D.); Samantha Crane, J.D., Autistic Self Advocacy Network (ASAN); Geraldine Dawson, Ph.D., Duke University (attended by phone); Ruth Etzel, M.D., Ph.D., Environmental Protection Agency (EPA); Melissa Harris, Centers for Medicare & Medicaid Services (CMS) (attended by phone); Shannon Haworth, M.A., Association of University Centers on Disabilities (AUCD); Jennifer Johnson, Ed.D.; Deputy Director, Administration on Intellectual and Developmental Disabilities, ACL (representing Commissioner Aaron Bishop, M.S.S.W.); Cindy Lawler, Ph.D., Chief, Genes, Environment and Health Branch, National Institute of Environmental Health Sciences, NIH (representing Linda Birnbaum, Ph.D.); Laura Mamounas, Ph.D., National Institute of Neurological Disorders and Stroke (NINDS) (representing Walter J. Koroshetz, M.D.); David Mandell, Sc.D., University of Pennsylvania; Brian Parnell, M.S.W., C.S.W., Utah Department of Human Services; Kevin Pelphrey, Ph.D., Yale University; Edlyn Peña, Ph.D., California Lutheran University; Robert H. Ring, Ph.D.; John Elder Robison, College of William and Mary; Robin Schulhof, M.A., Health Resources and Services Administration (HRSA) (representing Laura Kavanagh, M.P.P.); Stuart Shapira, M.D., Ph.D., Chief Medical Officer and Associate Director for Science, Centers for Disease Control and Prevention (CDC) (representing Cynthia Moore, M.D., Ph.D.); Alison Tepper Singer, M.B.A., Autism Science Foundation (ASF); Catherine Spong, M.D., Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); Julie Lounds Taylor, Ph.D., Vanderbilt University; Larry Wexler, Ed.D., U.S. Department of Education (ED); Nicole Williams, Ph.D., U.S. Department of Defense (DoD)

Call to Order, Roll Call and Welcome

Joshua Gordon, MD, Ph.D., Director, NIMH and Chair, IACC; Bruce Cuthbert, Director, Research Domain Criteria Unit, NIMH; Susan Daniels, Director, Office of Autism Research Coordination, NIMH, and Executive Secretary, IACC

Dr. Susan Daniels called the meeting to order at 9:04 a.m. and took roll call. The draft minutes from the July 19, 2016 meeting were accepted as written with one correction provided in advance by Ms. Samantha Crane. The minutes will be posted on the IACC website after the meeting. Dr. Daniels introduced Dr. Joshua Gordon, the new IACC Chair, and thanked Dr. Bruce Cuthbert, who had served as the previous IACC Chair, for his service on the committee and his support of the Office of Autism Research Coordination.

Welcome and Introductions

Dr. Gordon thanked the committee and shared that he has been reviewing the Strategic Plan and expressed that he is excited to be work with the IACC on this important issue for consumers and scientists. He acknowledged Dr. Cuthbert. Dr. Cuthbert spoke briefly about his tenure during the prior year and recognized the committee as a true interagency and public group with representation from government sectors, scientific contributors, individuals on the autism spectrum and individuals with children on the autism spectrum.

Dr. Gordon thanked Dr. Cuthbert for his interim leadership of NIMH and the IACC committee. Dr. Gordon shared his work experience and background as a neuroscientist and psychiatrist prior to joining NIMH and his limited direct experience working with autism. He expressed that he is looking forward to learning from IACC and his staff about current issues and the agenda for research and care priorities. He stated he can see the impact IACC has had on moving the focus on ASD across the lifespan both within NIMH’s research perspective and other agencies care perspective. At Dr. Gordon’s invitation, each member of the committee provided a brief introduction of themselves, their agency and “what they bring to the table.” Dr. Cuthbert recognized the incredible work of the committee and thanked Dr. Daniels and her staff for their dedication and work.

Dr. Gordon thanked all for their introductions and noted the tremendous range of experience and expertise that includes individuals with autism and experts who have studied ASD.

Dr. Daniels welcomed Dr. Thomas Novotny, the HHS National Autism Coordinator, who provided an update from his Office.

Update from Office of the National Autism Coordinator

Thomas E. Novotny, M.D., M.P.H., Autism Coordinator & Deputy Assistant Secretary for Health (Science and Medicine), Office of the Assistant Secretary for Health, Department of Health and Human Services.

Dr. Novotny opened his remarks by discussing progress made in response to the Autism CARES Act’s requirement for a report to Congress on the transition of youth/adolescents with ASD into adulthood. His office is leading the development of the report, but requires cooperation of many other federal agencies (DOL, DOE, DOD, etc.) and stakeholder input will be invited further in the process. Dr. Novotny reports that they have recruited some internal experts, including representatives from HRSA and staff from his office dedicated to the report’s production and development. The report to Congress will provide a thorough reporting of the federal government’s support across multiple agencies for individuals with ASD transitioning to adulthood. The report will identify gaps that need to be addressed as well as existing duplications. Dr. Novotny’s office recently sent out a data call (request for info) and are looking forward to agencies providing information needed to compile the report. He hopes to develop a sharp, focused document to carry over into the next administration. Given the election, they are working to ensure the work will continue despite substantial disruptions that occur with a changing administration. Dr. Novotny briefly discussed ASD as a global health issue; another angle for the committee to explore. Dr. Novotny hopes to provide an update on the progress of the draft report at the January IACC meeting. Dr. Novotny closed by acknowledging that constrained resources and this upcoming period of bureaucratic disruption are challenging, but they will push through to respond to the Autism Cares Act as directed.

Questions for Dr. Novotny

Dr. Daniels commented that IACC will share public comments collected over the summer with Dr. Novotny’s office, some of which addressed transition and may be helpful to the transition working group that Dr. Novotny and his team are leading.

Dr. Gordon used the comment on ASD as a global health issue to transition into the morning presentation on Tackling Early Death in Autism. Dr. Gordon introduced the invited speakers from Autistica, a UK charity that funds and advocates for ASD.

Tackling Early Death in Autism

Jon Spiers, Chief Executive, Autistica, United Kingdom and James Cusack, Ph.D., Director, Science, Autistica, United Kingdom

Autistica is the leading ASD research charity in the UK. Their goal is to better the lives of individuals with ASD and involve the views of the autism community in the research strategy. Dr. Cusack discussed Autistica’s scientific focus and research strategy. They have 3 areas of focus: mental health and ASD, early intervention, and ASD and Aging. Dr. Cusack reports they are very concerned about data on early death and autism and believe there is an enormous opportunity to positively impact quality of life for those with ASD by focusing research and policy agenda on mortality. The causes of death are likely to be complex. Cited findings from Swedish study, Hirvikoski et al. (2015), the largest study on autism mortality. They found that people with autism have 2.5 increased likelihood of dying early; have higher prevalence of epilepsy; and experience poorer physical health with increased risks for heart disease, stroke, diabetes, and respiratory conditions. Individuals with Asperger’s have an increased suicide rate (9 times higher likelihood). Other relevant health findings/studies were cited. Epilepsy is one of leading causes of premature death for individuals with autism. 20-40% of those with ASD also have epilepsy (Bolton et al, 2011). There is a high prevalence of mental health issues among people with autism. A child with autism has a 70% risk of having a mental health problem; 40% have two or more mental health problems and about half of 5 – 10 year olds with ASD have an anxiety disorder (Siminioff et al., 2008). There is also high self-report of psychiatric disorders, especially depression and anxiety, among adults with autism (Lever & Geurts, 2016). Cassidy et al., (2014) looked at suicidality and autism and found 66% of adults with autism considered suicide and 35% made plans/attempts.

Autistica’s scientific response is to raise £10 million to fund new research focusing on epilepsy (across life spectrum), suicide (risk factors. prevention) and other causes of early death in autism (risk factors, health services, social care). Autistica’s aim is conduct stakeholders’ meetings on each research area to develop a research strategy and then develop and commission potential research.

Jon Spiers, Chief Executive of Autistica, discussed Autistica’s policy focus and approach, emphasizing the importance for a global response and collaboration to have broader impact. Autistica published their first report in March 2016, Personal Tragedies, Public Crisis (https://www.autistica.org.uk/wp-content/uploads/2016/03/Personal-tragedies-public-crisis.pdf), which highlighted this data on early death in Autism. Goals of report are to raise awareness on early mortality; increase research funding, ensure services to reduce premature death and make recommendations for politicians. Mr. Spiers stated this is a challenge for all in autism, not just research challenge.The research will take time, but people are dying now. Report calls for action from healthcare system, providers, families, care providers and designers. We need to think about risk in a different way. They are focusing on policy influencing in the UK. In 6 months, they have achieved much. For example, the UK did not have good data collection quality, but they have improved data collection and analysis in ASD. They have secured autism as a theme in a National Mortality Review which means that any death of an individual with an intellectual disability is included in mortality review; autism is included, so they start to get data. Also, secured two commitments to improve autism data collection from doctors; have met with leading politicians, held a 3 hour debate in Parliament.

The March 2016 report also stimulated intense media interest with widespread coverage in major newspapers, radio, and websites. They are also spreading the word internationally; they have presented the report to the Autism Europe Congress in 2016—large group of advocates.

This mortality data is new to majority of people in autism community. Most parents told to expect their children with ASD to outlive them (in UK) yet the data shows that is probably not true for most families. But we also need to be careful and sensitive about how to share this information. Autistica will soon publish new information resources for individuals and families which they intend to make freely available.

Many of their recommendations in the report/policy responses are broadly applicable and not too complex. Mr. Spiers closed with a quote from President Barack Obama: “Change will not come if we wait for some other person or some other time. We are the ones we’ve been waiting for. We are the ones we seek.”

Questions/Discussion:

Dr. David Amaral raised two issues: 1) there are not good predictors for the 20-30% of ASD who will suffer from epilepsy so long term biomedical longitudinal studies are needed for a better understanding of risk and protective factors; and 2) the IACC has discussed establishing a working group on healthcare issues in autism to explore shorter lifespan for people with autism. This can be partly explained by suicide and seizure induced death, but some is due to individuals with ASD not getting the same level of healthcare as others. This is a complex issue and takes time to address. The presenters and committee members discussed health care access challenges and misattribution of health/mental health issues to autism diagnosis that can lead to a lack of treatment. Persons with autism may have difficulty recognizing their own health problems and questions from medical professionals may be vague or difficult for people with ASDs to answer.

Dr. David Mandell noted that there is a similar mortality gap for individuals with schizophrenia, bipolar disorder and major depressive disorders; the major mortality causes in those groups are metabolic and heart disease at times due to healthcare and malleable environmental factors (access to food, meaningful employment and relationships). He asked how Autistica was addressing social capital, employment, good food and housing in their research agenda. Dr. Cusack clarified that within the aging and autism initiative, they are looking at quality of life, access to employment, access to healthcare, and housing. They plan to link that to their agenda. At their next year’s meeting, Autistica hopes to bring together a real focus on health, well-being and mortality.

Ms. Shannon Haworth asked 1) whether they are looking at comorbidity of autism with other genetic disorders and 2) whether they are looking at differences in culture/ethnicity and impact on healthcare access. Dr. Cusack responded that this is still in the early stage and they have not yet considered comorbidity with other genetic disorders. He reported they have not done as much re: culture/ethnicity, but it is part of their cohort data collection and agrees it should be on the agenda. Given UK has a national health system, culture/ethnicity may not have as great an effect on access as it does in the U.S. Data do not show the same kinds of health disparities in autism diagnosis between different ethnic/racial groups in the UK as they do in the US, likely due to lack of differences in healthcare access.

Dr. Gordon noted that we must have data on access, but wondered if access and biology are controlled, would we see inefficient use of resources because of individual’s anxiety and communication challenges? Dr. Cusack pointed to some interesting data that suggest that lack of broad access to primary care in the U.S. can result in individuals not receiving care until they are in need of tertiary or specialty care because problems are allowed to worsen before care is sought, and that this increases costs.

Mr. John Robison commented that in his experience, being autistic trumps demographics and culture. While he is from a privileged background, he is still not able to advocate for himself, and that’s not always obvious to other people. This can impact autistic people in that they may not have the awareness that they need to seek healthcare assistance until it is pointed out to them or a caregiver/family member encourages them to seek care.

Ms. Crane asked whether people with an intellectual disability are more likely to have seizures or if their seizures less likely to be recognized due to being misattributed to behavior problems. Dr. Cusack and Mr. Spiers discussed absence of pharmacological trials of epileptics with ASD populations; ASD is an exclusion criterion in epilepsy trials. Thus, we do not know which epilepsy drugs might work best in individuals with ASD. They stated trials should be conducted with people with autism who have epilepsy given high rate of epilepsy in this population. This presents a research opportunity, but they stated the need to build a coalition of support.

Dr. Geraldine Dawson referred to a study presented at IACC a year ago (PDF – 1 MB) that found that adults with autism had higher rates of all health conditions, except addiction. She stated that there needs to be a developmental and prevention approach that offers physicians and others with guidance on risk factors contributing to poor health outcomes and there need to be education to increase their awareness, comfort, and skill in providing care to children and adults with ASD.

Dr. Cuthbert suggested looking at the relationship/interrelationship between schizophrenia and epilepsy. Dr. Gordon referenced work in this area that is translating genetics to behavioral and epilepsy and neurofunction and broadens the discussion to think of autism, epilepsy and premature death as an example of the complexity of this situation. A subset of populations might require a biological approach to address what is different and makes treating epilepsy more difficult in this population. In other cases, less clear if biological approach will be effective. Need more data if the variables are related to access to care. Dr. Amaral clarified that he is not aware of literature indicating that epilepsy is more difficult to treat in those with autism. Need to establish this. Mr. Spiers cited that are anecdotal reports from specialists that it is more difficult to treat and there may be small studies. Dr. Amaral suggested that if this is true, it should be put on record or in a commentary. Dr. Cusack noted there are unanswered research questions.

Dr. Julie Taylor asked if research finds that epilepsy rates are greater for individuals with autism and intellectual disability than for those with only intellectual disability. Dr. Cusack responded that they do not have data on that. The data are indicative but not confirmed, suggesting that autism has an additive effect.

Ms. Alison Singer asked if the compelling data and broad media coverage had resulted in policy change in the UK. Mr. Spiers responded that it has only been six months since the report was released but the message is being taken seriously by policy makers and politicians. There have been changes in data collection and some programming. They are challenged by the lack of a policy team. Autistica has also learned that they need to be clearer on recommended policy responses, “i.e., what do we do now?”

Mr. Robison suggested the UK consider screening for autism and sub-screening for incidents of depression/anxiety/mild epilepsy which might result in higher statistics on co-existing conditions and provide more insight into mortality. Mr. Spiel indicated the UK is not good at recording autism status, especially with adults (vs. children). They don’t have those data yet.

Dr. Josie Briggs commended the Swedish study and noted that population-based surveys are incredibly important for driving policy change and teasing apart factors such as underlying biology and access to healthcare. Dr. Briggs referenced their launch of the Precision Medicine Initiative (https://www.nih.gov/precision-medicine-initiative-cohort-program), which is looking at determinants of health (genes, environment, lifestyle), such as role of good caretakers, social and policy systems that allow good supports. Dr. Briggs noted the importance of population surveys as well as cohort studies at teasing apart factors.

Ms. Laura Mamounas referenced a funded biomarker study in tuberous sclerosis they are supporting that found they could identify those likely to develop epilepsy within 3-5 months using EEG.

After the 15-minute break, Mr. Robison shared that an audience member who identified as having ASD mentioned that they are often blamed for “causing” their health conditions which can result in shame and the notion that their mortality is their own fault. Dr. Gordon acknowledged this as an important insight.

Committee Business

Materials related to the IACC Strategic Plan Update:

• Materials and Transcripts from IACC Strategic Plan Working Group Calls
• Summary of Themes in the Comments Received in Response to the 2016 IACC Request for Public Comments (PDF – 174 KB)
• 2013 GAO Report on Federal Coordination of Autism Activities
• IACC Letter to the GAO (PDF – 161 KB)

Dr. Gordon turned the meeting over to Dr. Daniels, who presented on IACC Committee Business and provided the IACC Strategic Plan Update.

Update on Working Group Activities: Dr. Daniels started by acknowledging her appreciation for the working groups. Dr. Daniels reviewed IACC responsibilities (develop/annually update the Strategic Plan; develop/annual update summary of advances in ASD research; monitor federal ASD activities; make recommendations to HHS). She noted that there is a working group for each of the 7 questions in the Strategic Plan that consists of IACC members and external experts. Each question will be addressed as a chapter in the Strategic Plan. The workgroups met by conference call in September and October and discussed progress towards the current Strategic Plan, progress in the field and aspirational goals for each chapter. A third conference call will be held to discuss the draft chapter outline and to develop 3 broad objectives for each question/chapter. Dr. Daniels asked the committee for suggestions on areas to highlight or target in the objectives.

Discussion

Mr. Brian Parnell, noted the public frequently comments that the focus is on research when there are many other unmet needs. He recommends emphasizing that good research leads to good practice. Mr. Robison asked if the questions on mortality have been integrated into the unmet needs. Dr. Daniels indicated not formally but moving forward they will think more specifically about this. Dr. Mandell, noting that the questions often bleed into each other and boundaries may be unclear, suggested that one of the objectives recognize this. Dr. Daniels suggested that the chapters could describe the problem and the objectives could be housed at the end of the report; however, that would make coding the objectives to the Strategic Plan initiatives more problematic. Ms. Crane mentioned lack of clarity in the designation process, i.e. that not all relevant research is categorized within each question. Dr. Amaral suggested having a preamble or guidance on what global topics are being addressed in each objective. Dr. Daniels suggested describing the scope of each chapter and, if there are changes or new information, the working group will address those. Dr. Mandell suggested having a matrix of all the objectives and categories that would display each’s primary positions as well as show the interconnectedness. This could also be in the form of an Executive Summary. Dr. Taylor agreed that having a summary and explanation would be helpful for readers and writers.

Dr. Daniels asked the IACC committee if they would like to separate the objectives from the questions. Ms. Crane voiced support for each question area to continue having specific objectives. She suggested tagging (vs buckets). Dr. Daniels indicated that tagging capability is being developed internally for analysis purposes but is not yet available for broader use. Dr. Mandell is concerned that the current organization perpetuates silos and suggests that it is important to explore interconnections between chapters. Dr. Gordon agreed and indicated it’s important to talk about common goals and highlight interconnectedness. Dr. Daniels will work with the working groups to highlight issues about boundaries and be sure to address them in the chapter. Dr. Larry Wexler suggested including a one page description in the front of the Strategic Plan that lays out these issues of interconnections.

Duplication of Effort Statement: Dr. Daniels reports that the Autism CARES Act requires recommendations to ensure that ASD research, services, and support activities are not duplicative. The Strategic Plan update needs to include a statement about how interconnected research is in many of these areas. Dr. Daniels is collecting feedback from the working groups about duplication within their question/topic areas. Highlights from this discussion included: the importance of replication of research; role for closer coordination of large genomic sequencing efforts to avoid resequencing same individuals; and assuring that new Strategic Plan objectives have minimal overlap. Dr. Daniels asked for other committee suggestions to include in the statement.

Mr. Robison suggested distinguishing between duplication of basic research and replication to validate research findings. He cautioned being careful about defending genetic research as some do not see how it has improved lives of people with ASD. He suggested the need more funding for other issues like housing, etc. Dr. Daniels indicated that the working group is discussing study of new areas and there will be more balanced topics (not just genetics research) in the plan update. Dr. Robert Ring noted there is duplication resulting from limits related to sharing and access to data files and the challenge of standardizing data collection. This was supported by several committee members. Dr. Wexler emphasized that the audience for the report is appropriators/funders and there’s an opportunity to educate them on need for greater funding to accomplish all that needs to be done. Dr. Daniels asked for a volunteer to draft a statement for the Strategic Plan on recommendations to ensure unnecessary duplication of effort is minimized. Ms. Singer agreed to prepare the statement which will be then be circulated to work groups and shared at the next committee meeting.

Budgetary Requirements: Autism CARES act requires that the IACC Strategic Plan include “proposed budgetary requirements.” Dr. Daniels asked whether the committee wanted to develop requirements based on objectives, the questions, or the overall Strategic Plan; noting the new objectives are broad and include research and services activities. Does the IACC want to estimate actual budgets or project percentage increases/decreases? Growth over time?

Discussion

Ms. Crane suggests budget requirements by objectives or at least by question so they can show a proportional balance. Dr. Daniels stated that they currently track research portfolio budgets but not services budgets and are limited to federal programs. She asked for committee guidance on what types of information regarding the services provision budget would be helpful to the committee in developing budget recommendations.

Dr. Jim Battey noted it’s harder to define/defend services provision than research and it is important to be clear on what counts as a service and how it’s counted. Dr. Daniels said they will likely need to keep proposed budgetary requirements for research and for service provision separate. Mr. Robison suggested that rather than identify a percent increase for budgets, that they could develop a pie chart indicating an optimal allocation for the pool of money. Dr. Daniels stated that she has figures on federal expenditures on research, but does not have data on service provision. If OARC were to try to collect budgetary information on services provision activities, it would be limited to federal expenditures. Dr. Mandell indicated enthusiasm for trying to develop an approach to measure federal services expenditures for ASD and offered to work with OARC to develop a proposal. Dr. Cuthbert expressed concerns about the length of time required to get that information. Dr. Gordon said that this might have to be separated from the Strategic Plan (which is asking what you want to do and how much will it cost) but this would still be a valuable number for the committee and public.

Note the committee will begin writing chapters in November and drafts will be shared in January 2017.

Oral Public Comment Session

Dr. Gordon introduced the Oral Public Comment Section and noted the importance of the committee hearing from the public. IACC has public representation on the committee, receives oral comments and written comments from the public. Dr. Gordon indicated that two of the five oral comments presenters cancelled at the last minute but provided written comments.

Mr. James Williams initially intended to comment on how anime conventions can help youth with autism develop social networks that may alleviate depression. However, given the earlier IACC discussion about medical issues and autism, he shifted to share his relevant experience. He’s had conversations at the anime conventions with other adults who have had many of the health issues discussed earlier. The conventions are a safe space for adults with autism to discuss health issues. Mr. Williams shared that he has experienced health issues that doctors could not explain and often were attributed to psychological issues and/or resulted in no treatment. Other friends have discussed being shamed for colds, sinus and immune issues and that people with autism are often told it’s their fault for being sick. They need treatment, not discipline or scolding.

Dr. Gordon commented that we need to think outside the box to improve therapy and help people with ASD find ways to function better – such as by connecting individuals with ASD with affinity groups.

Mr. Henry Burton is a 22-year-old adult on the autism spectrum who graduated from a high school that specialized in helping people with ASD to be successful. He started college, but due to his sensitivities (temperature, noise, etc.) he could not stay at the dorm and returned home. Mr. H. Burton now works as a bagger and courtesy clerk at a farmer’s market and is an award- winning runner in the Special Olympics. It is his hope that by the time his parents die he will be able to live on his own with someone checking him weekly. He shared that he fell in love once, but it hurt him deeply and he never wants to experience that again. Mr. H. Burton served a modified mission in his religious community doing computer document duplication. His dream is to earn a college degree. A nearby university has a special program to help people with ASD succeed. He stated we need more research to help people with ASD be the best people they can be and to increase understanding.

Mr. Mitch Burton is the father of Henry Burton, a 22-year-old young man with ASD. Mr. Mitch Burton said that he is shocked to find out how little is being done for adult children on the spectrum. He talked about the struggles for adults with ASD. These children grow up and are not cured. There is very little research available; limited employment opportunities and few services if school, church, family, and friends aren’t available. Mr. M. Burton stated that 50,000 youth with ASD become adults each year and there is little known about their living options, health concerns and continuing education. There needs to be a national outcry about adult autism. He stated that there are 3.5 million autistic people in the US. Failure to provide services now will result in greater costs in the future. In Utah, they are building an autistic college that should be completed in 2017. It has been funded by contributions from families and friends. They had anticipated 80 kids signing up but had 700 kids sign up in one week. Mr. M. Burton said we need to educate employers that people with ASD are great employees—they want to be productive, go to work and be in the community. He thanked the committee and appreciates what they are doing for people with ASD.

Dr. Gordon thanked Mr. Burton for his focus on transition to adulthood.

Summary of Written Public Comments

Karen Mowrer, Ph.D., Health Science Policy Analyst, Office of Autism Research Coordination, NIMH presented a summary of written public comments. She received comments from 32 commenters. Full text of the oral statements and written public comments are available on the IACC website.

Link to oral public comments (PDF – 311 KB)
Link to list of written comments (PDF – 642 KB)

Request for Public Comment for IACC Strategic Plan

Susan Daniels, Ph.D., Director, Office of Autism Research Coordination, NIMH and Executive Secretary, IACC

Dr. Daniels indicated that the committee received over 1100 comments from the public on the 7 questions/areas in the Strategic Plan and the comments were shared with the IACC Strategic Plan working groups. These can be viewed on the IACC website. Comments were grouped by themes within each question/area. A nice cross section of the community provided comments. Dr. Daniels highlighted a few comments for each question. The public comments on IACC’s Strategic Plan update can be viewed at: https://iacc.hhs.gov/meetings/public-comments/requests-for-information/2016/

IACC Committee Member Discussion of Public Comments

Mr. Robison comment that they heard poignant comments on adult life for autistic people. He made two points. First, since there is not a database of older autistic people for research, a pressing issue in the Strategic Plan should be development of a database of older autistic people. Second, IACC needs to consider how to move forward the issue of shame/blame in autism in the update of the Strategic Plan.

Dr. Wexler noted that housing and employment for adults with ASD are challenging especially when parents/caregivers are no longer available. Dr. Kevin Pelphrey mentioned inclusive colleges for individuals with ASD are receiving great interest and not just among students with ASD; there are benefits to the colleges for other individuals as well. Dr. Pelphrey, while recognizing the public health benefit of a national registry, cautions that mandatory lists have not always worked well. Mr. Robison clarified these are voluntary, and that that there needs to be an anonymized pool for research so it’s safe to participate. Dr. Cuthbert mentioned NDAR which houses data on autism research participants and is anonymized. Dr. Mandell asked if there is a voluntary way to use data being collected on children to recontact those individuals as adults. Dr. Catherine Spong mentioned the NIH funded a Down syndrome registry: researchers apply to the NIH research team (IRB, approved research, funding), a limited number have access to identifiable data, and the family is contacted and decide if researchers can contact them. Dr. Stuart Shapira mentioned a CDC study on early development, risk, and genetic environment for autism which, in its 3rd phase, is recontacting participants from phase 1 who consented to being recontacted to enhance understanding of the long-term impact on health and development. Ms. Crane stated that the autistic community should be involved in any design of database for longitudinal research, given significant privacy concerns. There must be robust consent to assure their interest in participation later. Dr. Briggs stated that generally the issue of reconsent is positive, in other settings that it has been explored, not a huge barrier, but trust and consent are key.

Discussion of Nominated 2016 Science Advances

Dr. Daniels reviewed the nominated Science Advances from July 2016 through October 2016. Ten articles were nominated. Summaries of the Advance Nominations from July 2016 through October 2016 are available at: https://iacc.hhs.gov/meetings/iacc-meetings/2016/full-committee-meeting/october26/soa_nominations_102616.pdf (PDF – 125 KB). There were no articles nominated for Questions 1, 5, 6, and 7.

Discussion:

Dr. Daniel’s staff have been conducting monthly data calls for submissions for eth Summary of Advances rather than an annual call in January to see if it will increase the pool of submissions. However, she noted lack of robust response to these monthly reminders. Dr. Amaral suggested the reminders are starting to work and IACC needs to work harder as committee to submit articles in response. Dr. Daniels’ clarified that submissions can be sent to her or IACC public inquiries email at any time if committee members are not responding directly to the reminder e- mails, which come from a special inbox for Summary of Advances submissions. Dr. Battey asked if Dr. Daniels staff could conduct a search that IACC then reviews. Dr. Daniels stated that currently all nominations come from the committee and is concerned about gaps for some of the questions. (The first year of the Summary of Advances in 2008, OARC prepared the list of suggested articles and committee members made selections, but few committee members participated. In subsequent years, committee members submitted articles to create the list and the IACC Chair, assisted by OARC, provided additional submissions.) Mr. Robison asked if there could be a mechanism for the public or others to propose an article, OARC could cull the top articles and IACC could screen those. Dr. Daniels said the Act requires the committee to make the recommendations, so the committee has not solicited suggestions from the public for this particular project. Dr. Gordon said it is an interesting idea to consider.

Dr. Wexler commented that there are scientific advances and there are interesting studies; however, there needs to be rigorous science behind the study as these take on a level of endorsement from the committee. Dr. Gordon asked how the committee decides which advances to put forward. Dr. Daniels said they used to compile a list of nominations received from the committee, circulate the list to the committee, and have the committee narrow the list to their top 20 through a voting process. Compared to previous years, this year, with the new process, has had fewer submissions. Dr. Ruth Etzel believes their process for advance finding is not rigorous and suggested use of a scientific peer review group. Dr. Daniels stated that congressional mandate requires the recommendations come from the committee. Ms. Singer stated that the IACC is not a scientific committee and the process did not need to be at the level of scientific peer review. Dr. Briggs stated Congress did not request this rigorous process and that IACC should clarify that the committee selected these as important research advances. Dr. Cuthbert said they are trying to avoid including articles that may have been withdrawn or represent weak science. Dr. Etzelvoiced support for more rigorous vetting. Dr. Gordon called for a vote on either continuing to use the current process OR adopting a more rigorous methodology. Dr. Battey moved that proposed scientific advances be subjected to a scientific rigor/methodological review. The motion was seconded. The committee voted. The motion did not carry. The IACC will continue with the current plan for now and can reconsider at later time.

Dr. Gordon introduced the panel on autism in women and girls which was organized by Dr. Kevin Pelphrey.

Panel on Autism in Women and Girls

Introduction

Kevin Pelphrey, Ph.D., IACC Member and Panel Chair, Director, autism and Neurodevelopmental Disorders Institute, George Washington University and Children’s National Medical Center.

Dr. Pelphrey identified autism in girls as a hot topic that is receiving more media and attention. He stated that it is important to explore how to better facilitate the lives of girls living with autism. Introduced Dr. Somer Bishop.

Phenotypic Differences between Males and Females with Autism Spectrum Disorders (ASD)

Somer Bishop, Ph.D., Assistant Professor, University of California, San Francisco

Dr. Bishop presented on phenotypic differences between males and females with ASD and the state of current findings. This is not a new area, but has gained positive attention regarding the quality of science. Historically, more males are diagnosed with ASD than females and this preponderance of males remains. In most studies, there are 3 or 4 boys for every girl. Though both sexes span the entire IQ range, in general girls are overrepresented in the lower end of IQ. There has been a long-term interest in examining these sex differences in the behavioral manifestations of ASD. Discrepant findings related to phenotype include (core behaviors in bold):

• Social communication impairment in females may be less obvious and severe.
• Restricted and repetitive behavior findings: females tend to exhibit fewer of these behaviors particularly restricted interest. In other studies of community based sample of toddlers—no differences in findings.

Dr. Bishop stated she is seeing an explosion of literature to find important phenotypic differences between the sexes. There is concern that screening and diagnosis is missing what is salient in girls with ASD, i.e. they may not be identified and receive services. Dr. Bishop referenced a Jamison et al., article in press, which is a clinician perception study that asked if observed differences are in the core symptoms or the associated symptoms (medical and psychiatric comorbidities). Clinician-reported differences are most apparent in school age children and adolescents, though this may reflect the number of adults they are seeing. The researchers reported seeing less severe impairment in girls in social reciprocity and non-verbal communication. They are concerned that girls present symptoms differently and in a less severe way then boys.

Regarding clinical observation vs. empirical data discrepancies, they questioned why they were having hard time finding difference in the data. Likely issues include: measurement problems, sampling issues, and general methodological issues. Regarding measurement issues: they may lack sensitivity in detecting ASD in girls (measures were developed based on male samples). Diagnostic constructs could be sex-biased. Scores on ASD measures may also be affected by individual factors like IQ. Measurement issues skew samples such as towards girls with lower IQ or more behavior problems. Regarding sampling: issues could include relying too much on standardized screening/diagnostic measures that could skew samples (for example towards girl with lower IQ or more behavior problems). Other individual factors may affect scores on autism measures—for example found that youth with high parent ratings of behavioral symptoms had higher ASD symptom scores even if the children did not have ASD. Also, most studies are small clinical samples with a small “n” for girls. Stratifying the sample may be a way to deal with this.

Regarding methodological issues: to detect meaningful differences you need to identify appropriate comparison group. Longitudinal data are also needed. Dr. Bishop discussed Taylor et al.’s (2015) autism study that explored patterns of employment. They hypothesized that males and females may not differ in their ability to gain employment but may differ in maintaining employment over time. Did not see differences at first time point between men and women, but over time vocational index score for women declined more rapidly. Dr. Bishop stated it’s important to move beyond existing behavioral measures. May need to incorporate different measurement strategies.

Dr. Bishop indicates their conclusions were that there are at least some subtle sex differences in phenotype in certain groups. Ascertainment and measurement challenges were the biggest issues. Sex is a stratification variable that needs to be considered in the contest of other know behavioral and biological variables.

Questions:

Ms. Crane asked if the study tracked differences in race or culture status as well as sex. Dr. Bishop responded that there is a problem of lack of diversity in the samples, with overrepresentation of white and high socioeconomic individuals, but that it would be desirable to expand the pools to be more diverse.

The Role of Genetics and Sex-Differential Biology in Risk for Autism

Donna Werling, Ph.D., Postdoctoral Scholar, Department of Psychiatry, University of California San Francisco School of Medicine

Dr. Werling stated that autism prevalence is sex-biased: if you are male, chances of having ASD is 4x higher than if you are a female. If difference is based in biology, understanding how sex modulates the risk, could help treatment development. Can explore whether females with ASD carry greater genetic risk than males with ASD. Find greater number of females with ASD carry severe deleterious genetic mutation than males. Key prediction from Female Protective Effect (FPE) model is that females respond differently to liability that is sufficient for diagnosis in males. What are the mechanisms that protect females? Need to also determine if we are missing females with ASD? Are females with ASD being misdiagnosed? Two models: quantitative which posits that females are protected and have neurotypical phenotype; and qualitative which posits that females present symptoms differently and thus are not diagnosed as ASD. Their hypothesis was that sex-differential biology contributes to male and female differences in ASD risk and/or symptom presentation. They used a gene expression analysis to identify sex differences that contribute to the FPE. By first identifying genes that have sex differential expression levels in the human brain and then characterizing the relationship between these genes and ASD biology. They observed a relationship between genes with a sex differential and ASD biology that suggests a male sensitization model of ASD risk. In summary, their work shows that the intersection of ASD neurobiology and sex differential neurobiology provides an approach to understand sex bias. Male-based expression found in microglial genes; collagen genes and endothelial cell markers, and glial genes dysregulated in ASD brain, suggesting a male-sensitization effect. Dr. Werling noted that the results were preliminary and based on analysis of a single data set. Looking forward: these findings need to be validated in existing data sets.

Questions and Comments:

Dr. Gordon asked what was known about correlation of genotype with phenotype, and Dr. Werling responded that it was outside the scope of her work. Dr. Bishop clarified that both their presentations suggested that since females require higher genetic load to manifest this disorder, girls with autism often are diagnosed with more severe phenotypes.

Listening to our Daughters: How Working with Girls and Women on the Spectrum Informs our Understanding of Autism

Kevin Pelphrey, Ph.D., IACC Member and Panel Chair, Director, Autism and Neurodevelopmental Disorders Institute, George Washington University and Children’s National Medical Center

Dr. Pelphrey shared that experiments with biological motion and non-biological motion can illustrate the point that basic cognitive neuroscience can inform the study of ASD in meaningful ways. Can we see autism’s signature in the brain? A recent paper by Bjornsdotter et al. looked at differences between boys and girls with ASD in social perception circuit function using functional magnetic resonance imaging. They found that social perception circuits were affected in boys with autism when compared to controls, but that social perception circuits in girls with and without autism were indistinguishable, suggesting a mechanism for compensation in girls. This suggests that interventions may work differently in girls and boys depending on which circuits are affected. The ultimate goal is to personalize treatment and predict which individual will benefit from which treatment. This will also save time, money and hardship by reducing or preventing use of treatments that will be ineffective on a given individual in light of their specific challenges.

Questions and Comments

Dr. Amaral commented that this is exciting work and asked how Dr. Pelphrey considers the fact that he is looking at middle childhood brains that have already progressed down the developmental pathway. Dr. Pelphrey suggested that studies of siblings or even twins might help distinguish between endophenotypes and adaptive changes.

The Autism Sisters Project

Alison Tepper Singer, MBA, IACC Member, President, Autism Science Foundation

The Autism Sisters Project (http://autismsciencefoundation.org/about-asf/media-center/press-releases/autism-sisters-project/) looks at why some people do not have autism and grew from genetics research. We have learned that autism genes are equally distributed between males and females, but some females show no clinical symptoms. They want to understand what protects this cohort of girls from developing symptoms of autism and use that to protect boys and girls. They are building a database of unaffected female sisters which they believe is an enriched cohort. They are building this database in 3 ways: 1) gathering existing data and move into autism sequencing database; 2) recontacting families that participated as trios (both parents and affected youth) and seeing if can collect data from unaffected siblings; and 3) seeking new families. They are actively recruiting families in New York (hope to add 2-3 more) to Mt. Sinai to “give a spit for autism” (saliva samples). Ms. Singer played a 3-minute video about the Autism Sisters Project. They are now looking at whether being female offers some protection (female protective effect). They are encouraging families to participate so they can build their database.

Questions and Comments:

Dr. Wexler shared that his division at the US. Department of Education funds 110 parent centers nationally including some in New York and he could arrange for them to contact Ms. Singer. Mr. Parnell asked how long before they could do the testing by computer to eliminate travel barrier. Dr. Bishop said they are piloting now so hope to be able to roll that out in one year.

Mr. Robison commented that the video showed obvious differences between ASD and non ASD sibling; but mostly focused on protection. He wondered if Ms. Singer had any comments on under-recognition of females. Dr. Pelphrey responded that the question “keeps me up at night.” He noted “unwritten rejection criteria” for Journal of Autism and Developmental Disabilities and other key journals if you don’t meet specific criteria on all patients. Dr. Bishop said this is an important point and question on how to put these findings in context with each other. To understand individual’s differences in ASD, you have to understand what works, for whom and why. There needs to be a balance between high quality stringent inclusion criteria and the ability to survey people who might fly under the radar. Registries discussed earlier might offer an opportunity to better understand who is being missed.

Ms. Crane agreed with Mr. Robison. She didn’t see why sex differences are inconsistent with idea that ASD girls are being underdiagnosed. Girls with ASD may be making extra effort to process social cues and may be overcompensating. Dr. Pelphrey noted that if you avoid autism and have a genetic liability it could cause another neurodevelopmental or psychiatric disorder, but the developmental path to those outcomes is not understood. Ms. Crane said that here is a cost to everything you divert brain resources to accomplish. Girls may be using so many resources to process social cues, that they have massive issues with anxiety, executive functioning and language processing.

Mr. Robison stated that the questions they seek to answer are important, however will the focus on prevention/protective factors to help children result in a lack of research on quality of life for older people living with ASD. He wishes research could balance between the basic questions around cause/prevention and improving quality of life/expectancy for those currently with ASD. Dr. Pelphrey commented that if we can understand how women live longer, etc. over time, there may be more options for those living with ASD.

Dr. Gordon thanked the panel and committee for great presentations and discussion.

Round Robin

Dr. Gordon asked committee members to share updates from their agencies/organizations on issues of relevance to the committee.

Dr. Cindy Lawler, representing Dr. Birnbaum, shared information about a 3 year NIH grant initiative exploring environmental contributions to ASD which includes clinical and epidemiological studies and is particularly interested in studies looking at exposures and genetic susceptibility. Eight applications were funded in FY 2015, and nine grants were funded late summer 2016. Funded applications are a mix of studies and explore exposures including pollution, heavy metals, chemicals, maternal risk (metabolic conditions). NIH will review 3rd year applications in the spring (2017). This is a great example of inter-institute cooperation. They have funded a good base of projects in high priority areas that needed an extra boost.

Dr. Gordon shared that NIMH, in response to the need for improved services delivery identified in the Strategic Plan, has awarded 12 research grants through 3 different requests for applications (RFAs). Most are focused on ASD in children, and some are focused on transition age youth and adults. They reissued the adolescent and adult RFAs in October 2016. They now have 34 applications from two RFAs for transition age youth and adults and expect to make awards in early 2017. Dr. Alice Kau from NICHD reported that the Autism Centers of Excellence program is also up for renewal. The request for applications is closing on November 18, 2016. They are receiving letters of intent.

Dr. Shapira from CDC reported that the Learn the Signs, Act Early program focuses on age of enrollment and getting children into early intervention as early as possible; providing education and resources to parents, day care centers, preschools, and physicians. A recently completed pilot study to WIC clinics in selected Missouri Learn the Signs programs so successfully identified and enrolled children in services that it has been expanded throughout Missouri. Learn the Signs Milestones Action Image library recently launched online and includes a video of every developmental milestone from their 2 months to 5 years’ checklist. Dr. Shapira shared about 2 new resources: Where Is Bear, a children’s book introducing developmental milestones to parents and caregivers, and a milestones tracker app, for parents and caregivers to track and store developmental milestones on smartphones.

Dr. Daniels is a member of the Interagency Commission on Disability Research (ICDR) managed by ACL. ICDR recently posted a draft of government wide strategic plan for disability research for FY 17-2020. Dr Daniels announced that the public comment period was just extended to 11/4/16 and IACC members and members of eth public were welcome to submit comments.

Closing Remarks

Dr. Gordon shared that the meeting was an educational experience for him. He thanked IACC members and particularly the speakers for their contributions. Dr. Gordon highlighted several issues that would need to be revisited in future meetings. First, the issue of financial/budget recommendations that need to be included in the strategic report update. Dr. Mandell would consult with Dr. Daniels and they would provide an update to the committee in January. Second, Dr. Gordon and OARC would consider the issue of the rigor of the Science Advances nomination and selection process and bring any recommendations back to the committee.

Dr. Daniels said that she would follow up with working groups about next calls and will provide outlines of each chapter based on working group discussions. They would plan to discuss drafts of the different chapters at the January meeting.

The next meeting will be held on Friday January 13th 2017.

Adjournment

The meeting was adjourned at 4:46 p.m.

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Jon Spiers

Mr. Spiers joined Autistica in 2015, after several years as a consultant advising senior leaders in charities, pharmaceutical firms and biotech. He specialized in devising and delivering innovative policy, public affairs and media campaigns in areas including lung cancer, leukaemia, genomics, HIV, meningitis, infectious diseases and ADHD. Mr. Spiers worked for almost a decade at Cancer Research UK, the world’s largest independent cancer research funder, working his way up from a graduate trainee to Head of Public Affairs and Campaigning. He and his team recruited over 400,000 campaigners and successfully lobbied for policies including national cancer plans for the four UK nations, increased investment in cancer screening and putting tobacco out of sight in shops. His very first campaign was the introduction of smokefree legislation in England and Wales, a policy hailed as “the biggest step forward in public health for fifty years”. Mr. Spiers graduated in Linguistics from Cambridge University, followed by a year as RAG President, raising over £100,000 for a range of local and national charities.

James Cusack, Ph.D.

Dr. Cusack is the Director of Science at Autistica in the UK. He joined Autistica in September 2015 from the University of Aberdeen, where he is an Honorary Research Fellow. At the University of Aberdeen he gained broad experience working within the field of autism, holding specific expertise in autism research. Dr. Cusack has sat on a number of advisory panels discussing the role of research in autism, and was vocal in the production of the report; A Future Made Together and the publication; Educational Provision and Outcomes for People on the Autism Spectrum. He was part of a core stakeholder group which successfully campaigned for Scotland’s first ever autism strategy. Dr. Cusack was a member of Autistica’s own Science Review Panel. He has worked directly with families affected by autism, as well as having experience in clinical, educational, and social care settings. He earned his Ph.D. at the University of Aberdeen where he studied how people with autism detect the actions of others. In his post-doctoral studies he led the development of an automated measure of facial imitation which is being used in the study of autism, mood disorders and schizophrenia.

Kevin Pelphrey, Ph.D.

Dr. Pelphrey's research addresses fundamental questions regarding the typical and atypical development of brain mechanisms for social cognition in children with and without autism spectrum disorders. This work employs multiple methods including functional and structural and functional imaging and genomics. Dr. Pelphrey is also the Principal Investigator for an NIH-funded multisite Autism Center for Excellence, “Multimodal Developmental Neurogenetics of Females with ASD” network that spans Yale, Boston Children’s/Harvard, UCLA, UCSF, University of Southern California, and the University of Washington. Dr. Pelphrey joined the IACC as a public member in 2015. He completed his doctoral studies in Psychology at the University of North Carolina at Chapel Hill. He then undertook postdoctoral training in Cognitive Neuroscience at Duke University.

Somer L. Bishop, Ph.D.

Dr. Bishop is an Assistant Professor of Psychology in Psychiatry at UCSF, where she is also on staff at the The Service, Training, Advocacy and Research (STAR) Center for Autism Spectrum Disorders and Neurodevelopmental Disorders. She is a clinical psychologist with expertise in assessment, diagnosis, and treatment of individuals with autism spectrum disorders. Her research and clinical interests are focused on ASD symptom manifestations in individuals of different ages and levels of ability, as well as on differentiating between ASD and other developmental disabilities across the lifespan. Her research interests include: behavioral phenotyping of individuals with autism spectrum disorders (ASD) across the lifespan, differential diagnosis between ASD and neurodevelopmental disorders (NDD), and moderators (especially sex, age, IQ, and language) of ASD symptom manifestation and symptom measurement. She earned her MA and Ph.D. in Clinical Psychology at the University of Michigan, from which she also earned a BA in Psychology. Dr. Bishop completed postdoctoral training at the University of Michigan Autism and Communication Disorders Center, as well as at the University of Wisconsin-Madison - Waisman Center.

Alison Tepper Singer, M.B.A.

Ms. Alison Singer has served as a public member on the IACC since 2007. She is the Founder and President of the Autism Science Foundation, a not-for-profit organization launched in April 2009 to support autism research. The Autism Science Foundation supports autism research by providing funding and other assistance to scientists and organizations conducting, facilitating, publicizing and disseminating autism research. Ms. Singer is the mother of a child with autism and legal guardian of her adult brother with autism. From 2005-2009 she served as Executive Vice President and a Member of the Board of Directors at Autism Speaks. Ms. Singer also currently serves as Chair of the Associates Committee of the Seaver Autism Center at Mount Sinai School of Medicine, and on the external advisory boards of the Yale Child Study Center, the Marcus Autism Center at Emory University, and the CDC's Center for Birth Defects and Developmental Disabilities. She chairs the public relations committee for the International Society for Autism Research (INSAR) and serves as a member of the program committee for the International Meeting for Autism Research (IMFAR). Ms. Singer graduated magna cum laude from Yale University with a B.A. in Economics and has an M.B.A. from Harvard Business School.

Donna M. Werling, Ph.D.

Dr. Werling’s research focuses on the etiology of neurodevelopmental disorders such as autism. Using a combination of human genetics and functional genomics approaches, she works to identify genetic risk variants for these conditions and investigating how the identified variants interact with other, non-genetic biological risk factors. In particular, Dr. Werling’s interest lies in how sexually dimorphic biology contributes to sex-differential prevalence or presentation of autism. By identifying risk variants and integrating them with previously implicated genes, molecular pathways, neurodevelopmental processes, and contributing factors such as sex, Dr. Werling aims to advance understanding of the risk architecture for developmental disorders and to facilitate the development of targeted treatments. She earned her Ph.D. in neuroscience from the University of California, Los Angeles, and received her BS in Psychology from Duke University.

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• Oral Public Comments (PDF – 311 KB)
• Written Public Comments (PDF – 642 KB)
• Comments Received in Response to the 2016 IACC Request for Public Comments for the IACC Strategic Plan Update

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Materials related to Tackling Early Death in Autism Presentation:

• Autistica’s 2015 Research Strategy

Materials related to Committee Business:

IACC Strategic Plan Update

• Materials and Transcripts from IACC Strategic Plan Working Group Calls
• Summary of Themes in the Comments Received in Response to the 2016 IACC Request for Public Comments (PDF 174 KB)
• 2013 GAO Report on Federal Coordination of Autism Activities
• IACC Letter to the GAO (PDF 161 KB)

Materials related to Discussion of Summary of Advances Nominations:

• 2016 Nominations for IACC Summary of Advances (PDF 164 KB)

Materials related to Panel on Autism in Women and Girls:

References

Peer Reviewed Articles

• Baldwin S, Costley D. The experiences and needs of female adults with high-functioning autism spectrum disorder.Autism. 2016 May;20(4):483-95. 

• Bargiela, S., Steward, R., & Mandy, W. The Experiences of Late-diagnosed Women with Autism Spectrum Conditions: An Investigation of the Female Autism PhenotypeJournal of autism and developmental disorders,46(10), 3281-3294.
• Bishop SL, Veenstra-VanderWeele J, Sanders SJ. Attention Finally Being Paid to Girls at Risk of Autism. J Am Acad Child Adolesc Psychiatry. 2016 Mar;55(3):159-60.

• Dworzynski K, Ronald A, Bolton P, Happé F. How different are girls and boys above and below the diagnostic threshold for autism spectrum disorders?. J Am Acad Child Adolesc Psychiatry. 2012 Aug;51(8):788-97.
• Frazier TW, Georgiades S, Bishop SL, Hardan. Behavioral and cognitive characteristics of females and males with autism in the Simons Simplex Collection. 2014 Mar;53(3):329-40.e1-3.
• Halladay AK, Bishop S, Constantino JN, Daniels AM, Koenig K, Palmer K, Messinger D, Pelphrey K, Sanders SJ, Singer AT, Taylor JL, Szatmari P. Sex and gender differences in autism spectrum disorder: summarizing evidence gaps and identifying emerging areas of priority.Mol Autism. 2015 Jun 13;6:36.
• Mandy, W., Chilvers, R., Chowdhury, U., Salter, G., Seigal, A., & Skuse, D. Sex differences in autism spectrum disorder: evidence from a large sample of children and adolescents.Journal of autism and developmental disorders. 2012 July; 42(7), 1304-1313.
• Werling DM, Geschwind DH. Recurrence rates provide evidence for sex-differential, familial genetic liability for autism spectrum disorders in multiplex families and twins.Mol Autism. 2015 May; 6:27.

• Werling DM, Geschwind DH. Understanding sex bias in autism spectrum disorder.Proc Natl Acad Sci U S A. 2013 Mar; 110(13):4868-9.
• Werling DM, Lowe JK, Luo R, Cantor RM, Geschwind DH. Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder.Mol Autism. 2014 Feb; 5(1):13.

• Werling DM, Parikshak NN, Geschwind DH. Gene expression in human brain implicates sexually dimorphic pathways in autism spectrum disorders.Nat Commun. 2016 Feb; 7:10717.

Other Resources

• Age at Autism Diagnosis Differs Between Boys, Girls
• Are girls with autism hiding in plain sight?
• Autism—It's Different in Girls
• Autism Science Foundation Launches Autism Sisters Project
• Autism Sisters Project Video
• Girls & autism: It can be subtle, or absent for some at risk
• IAN Research Report #12: Girls with ASD
• Interactive Autism Network Webinar on Sex Differences and Autism
• Not Just for Boys: When Autism Spectrum Disorders Affect Girls
• The lost girls
• Why It’s So Difficult to Diagnose Autism in Girls

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• Meeting Transcript (PDF – 613 KB)

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• IACC Meeting Full Slide Set (PDF 6 MB)

Presentation	Presenter(s)
Tackling Early Death in Autism (PDF – 886 KB)	Jon Spiers, Chief Executive, Autistica James Cusack, Ph.D., Director, Science, Autistica
IACC Committee Business (PDF – 331 KB)	Susan Daniels, Ph.D., Director, Office of Autism Research Coordination, National Institute of Mental Health (NIMH) and Executive Secretary, IACC
Request for Public Comment for IACC Strategic Plan (PDF – 370 KB)	Susan Daniels, Ph.D., Director, Office of Autism Research Coordination, National Institute of Mental Health (NIMH) and Executive Secretary, IACC
Discussion of Nominated 2016 Science Advances (PDF – 326 KB)	Susan Daniels, Ph.D., Director, Office of Autism Research Coordination, National Institute of Mental Health (NIMH) and Executive Secretary, IACC
Phenotypic differences between males and females with autism spectrum disorders (ASD) (PDF – 1.3 MB)	Somer Bishop, Ph.D., Assistant Professor, University of California, San Francisco
The Role of Genetics and Sex-Differential Biology in Risk for Autism (PDF – 3.5 MB)	Donna Werling, Ph.D. Postdoctoral Scholar, Department of Psychiatry, University of California San Francisco School of Medicine
Listening to our Daughters: How Working with Girls and Women on the Spectrum Informs our Understanding of Autism (PDF – 4.6 MB)	Kevin Pelphrey, Ph.D., Director, Autism and Neurodevelopmental Disorders Institute, George Washington University and Children’s National Medical Center

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