IACC Strategic Plan Update Question 1 (Screening and Diagnosis) Planning Group Conference Call

Announcement
Agenda
Minutes
Materials
Transcript

Due to the recent government closure, this meeting has been rescheduled from its original date of October 4, 2013. The new call-in information is as follows:

Topic	Topic Description
Date:	Tuesday, October 29, 2013
Time:	1:30 p.m. to 3:30 p.m. Eastern
Agenda:	The planning group for Question 1 (Screening and Diagnosis) will discuss updates for the IACC Strategic Plan.
Place:	No in-person meeting; conference call only
Conference Call:	Dial: (888) 730-9135 Access code: 8183922
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
Please Note:	The conference call will be open to the public in listen-only mode. 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 conference call, please e-mail HelpDeskIACC@gmail.com or call the IACC Technical Support Help Line at 415-652-8023. Accommodations Statement: The meeting will be open to the public via conference call. Individuals who participate by using this electronic service and who need special assistance such as captioning or other reasonable accommodations should submit a request to the Contact Person listed on this notice at least 3 days prior to the meeting. Schedule subject to change.

No in-person meeting; conference call only. The materials for the meeting can be found here.

Time	Event
1:30 p.m.	Roll Call and Opening Remarks Susan Daniels, Ph.D. Acting Director, Office of Autism Research Coordination, National Institute of Mental Health Executive Secretary, IACC
1:45 p.m.	Discussion of Question 1 IACC Portfolio Analysis Documents and Strategic Plan Progress Reference Documents: 5-Year Strategic Plan Status Chart for Question 1 (Cumulative Funding) Distribution of funding across IACC Strategic Plan (Pie charts for 2008-2012) by Question Subcategory Pie Charts for Question 1 (2010-2012) Full project listings for Question 1 - 2011-2012 (2008-2010 project lists can be accessed from cumulative funding table via links to the Web Tool) Summary sheet for each question Discussion Questions: What progress has been made toward achieving Strategic Plan goals in terms of funding of Strategic Plan objective areas in the past 5 years? Which objectives have been partially or fully accomplished based on information available from the Portfolio Analysis documents? Which objectives received little or no funding, and why? What conclusions can be made about progress on Question 1 based on this funding information?
3:00 p.m.	Planning Group Discussion of Strategic Plan Update Process
3:15 p.m.	Wrap-up and Next Steps
3:30 p.m.	Adjournment

Roll Call and Opening Remarks
Discussion of Question 1 IACC Portfolio Analysis Documents and Strategic Plan Progress

The Interagency Autism Coordinating Committee (IACC) Subcommittee for Basic and Translational Research Strategic Plan Question 1 Planning Group convened a conference call on Tuesday, October 29, 2013, from 1:30 p.m. to 3:13 p.m.

In accordance with Public Law 92-463, the meeting was open to the public. Susan Daniels, Ph.D., Executive Secretary, IACC, presided.

Participants:

Coleen Boyle, Ph.D., M.S. Hyg., Chair, Centers for Disease Control and Prevention (CDC); Susan Daniels, Ph.D., Executive Secretary, IACC, Office of Autism Research Coordination (OARC), (NIMH); Anshu Batra, M.D., Our Special Kids; Alice Kau, Ph.D., Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (representing Alan Guttmacher, M.D.); Shantel Meek, M.S., Administration for Children and Families (ACF) (representing Linda Smith); John Elder Robison, Self-Advocate, Parent, and Author

Roll Call and Opening Remarks

Dr. Susan Daniels welcomed the Planning Group and members of the public and called roll. She said that this Group was charged with the update for Question 1 of the IACC Strategic Plan (When Should I Be Concerned?). She noted that the goal of this call of the Planning Group was to evaluate the status of the Question 1 objectives, by reviewing the funding and project information documents prepared by the Office of Autism Research Coordination (OARC). In the second conference call, external subject matter experts would be invited to work with the Planning Group to qualitatively assess the scientific progress made on Question 1 objectives and to identify research gaps.

Discussion of Question 1 IACC Portfolio Analysis Documents and Strategic Plan Progress

Dr. Daniels reviewed these materials, all of which are available on the IACC website. The materials included: a Compiled Objective Chart for Question 1 (2008 to 2012), an IACC Strategic Plan Funding Summary Sheet for Question 1, Project Lists for Question 1 from the IACC Portfolio Analyses (2008-2012), and subcategory and whole Strategic Plan pie charts. In order to develop the Compiled Objective Chart for Question 1, Dr. Daniels said that OARC staff collected information from federal agencies and private funders. Projects were coded to Strategic Plan objectives. Objectives were roughly categorized using a "stoplight" approach: red indicates that the objective has no funding and/or projects; yellow indicates that some progress has been made in term of the number of projects and recommended budget, but additional work is needed; and green indicates that recommendations have been met in terms of number of projects and recommended budget. She noted that data were provided from the upcoming Portfolio Analysis for 2011 and 2012, but the data are still subject to minor changes until the final document is released. Dr. Daniels also explained that some agencies fund their projects by providing yearly increments of funding in a multiyear project, whereas others provide the entire cost of a multi-year project in the first year, and that these differences can affect the patterns observed from year to year. In projects funded by the second method, they appear to have zero funding in the "out-years," but in actuality, the projects are being conducted using funds that were provided at the start of the project. Dr. Daniels also said that there was a category of objectives called "Other," which included research projects and funding that did not map to specific objectives.

Dr. Daniels suggested that the Group review each of the objectives to determine what has been accomplished, what gaps remain, and any barriers. (Refer to Compiled Objective Chart for Question 1, PDF – 149 KB)

1.S.A Develop, with existing tools, at least one efficient diagnostic instrument (i.e., briefer, less time intensive) that is valid in diverse populations for use in large-scale studies by 2011. The overall recommended budget for this objective was met. However, the projects in 2011 and 2012 did not fully cover all aspects of the objective. Mr. John Robison expressed concern about the lack of translation of research to tools that would be useful in the community. He said that this is a very large gap - one that was a very important issue to the autism community. Dr. Daniels said that Mr. Robsion's point was better suited to the next conference call, which would focus on research progress and gaps. Dr. Anshu Batra said that it was a critical need to have a diagnostic tool - especially one that pediatricians could use. She added that there has been no research on the utility of existing general developmental screening tools, such as early assessments of motor skills.

Dr. Coleen Boyle said that the original intention of the objective was to focus on more definitive diagnostic tools, not screening tools. Dr. Batra pointed out that until there was a better understanding of the heterogeneity of the autism spectrum, it would be difficult to develop diagnostic instruments. Ms. Shantel Meek asked what the Group meant by the term "diverse populations." Had basic research addressed diverse populations, and were there valid reliable tools for use in different languages? The Group agreed that diversity was a gap area that should be addressed. However, there was a need to evaluate existing tools, such as general developmental screeners for the assessment of early signs of autism. There was also a need to translate research to tools that can be used in the real world.

1.S.B Validate and improve the sensitivity and specificity of new or existing screening and diagnostic tools, including comparative studies of general developmental screening versus autism-specific screening tools, in both high-risk and population-based samples, including those from resource-poor international settings and those that are diverse in terms of age, socio-economic status, race, ethnicity, gender, characteristics of ASD, and general level of functioning by 2012. The overall recommended budget for this objective was met and exceeded. Dr. Alice Kau said that some instruments, such as the Modified Checklist for Autism in Toddlers (M-CHAT)-Revised has provided additional validation data, but, it does not address all of the elements of the objective (e.g. not tested in a high-risk population). Dr. Daniels said that there was unlikely to be one instrument that would meet all of the elements of the objective, and that likely multiple projects would be needed to address the intent of the objective. Dr. Kau noted that the use of the M-CHAT in an academic setting was different than use in a population-based sample. She said that it would take a long time to get results from studies of population-based samples, and in order to adequately assess the sensitivity and specificity of an instrument, a large study population was needed.

Ms. Meek aid that the group of projects lacked comparisons of general developmental screening instruments with autism-specific tools. In particular, they needed to look more at early motor skills. Ms. Meek and Dr. Batra emphasized that general developmental screens are very commonly used. If these general screeners could be correlated with autism-specific tools, it might be possible to identify early signs of autism. However, the Group also noted that early signs of autism still might be missed using current instruments; new or adapted screening tools were needed.

1.S.C Conduct at least three studies to identify reasons for the health disparities in accessing early screening and diagnosis services, including identification of barriers to implementation of and access to screening, diagnosis, referral, and early intervention services among diverse populations, as defined by socioeconomic status, race, ethnicity, and gender of the child, by 2012. The overall recommended budget for this objective was partially met. The Group noted that projects tended to be small. Mr. Robison said that there appeared to be a shortage of good quality proposals on this subject. Much more work is needed to answer this objective. Dr. Kau said that there were peripheral studies, in which researchers were developing tools to address disparities. For example, there were researchers developing tools to track children from the point of screening to the point of referral for services and intervention. Researchers may not have been producing data as to why disparities existed, but some projects were actively aimed at developing solutions, which is the logical next step in the process.

1.S.D Conduct at least two studies to understand the impact of early diagnosis on choice of intervention and outcomes by 2015. No money or projects were identified that addressed this objective. Dr. Daniels said that none of the investigator-initiated projects or specifically targeted initiatives addressed this objective. Dr. Kau speculated that this objective required a large longitudinal study to answer this question. It would be a difficult study to conduct because of the amount of resources required. Dr. Boyle said that the work on the Early Start Denver Model (ESDM) intervention developed Dr. Geraldine Dawson and her colleagues would fall under this objective. Dr. Daniels clarified that projects/studies could only be included under one question of the Strategic Plan. Dr. Dawson's study was included under Question 4 on intervention, and thus was not available to be coded to this objective, but that it had also met requirements for this objective. Mr. Robison raised the issue of addressing adult diagnosis. Dr. Daniels reminded the Group that they were not creating new objectives during this call, only evaluating progress on existing objectives. However, this could be discussed at the upcoming Workshop as a possible research gap.

1.S.E Conduct at least one study to determine the positive predictive value and clinical utility (e.g., prediction of co-occurring conditions, family planning) of chromosomal microarray genetic testing for detecting genetic diagnoses for ASD in a clinical setting by 2012. The overall recommended budget for this objective was partially met. Mr. Robison suggested that this objective be dropped in favor of more urgent needs. Dr. Daniels said that they could bring this recommendation to the full Committee for discussion. Mr. Robison said that this was a very specific question that would be moot until broader questions - regarding deployment of tools to the community - were answered. Some members wanted an update from the experts at the Workshop, while others suggested this might be a lower priority objective.

1.S.F Convene a workshop to examine the ethical, legal, and social implications of ASD research by 2011. The workshop should define possible approaches for conducting future studies of ethical, legal, and social implications of ASD research, taking into consideration how these types of issues have been approached in related medical conditions. The overall recommended budget for this objective was met. Dr. Daniels said that such a workshop, funded by NIH, was held in 2011. Dr. Kau and Dr. Daniels had co-chaired the workshop. Dr. Kau said that the workshop raised awareness of the ethical, legal, and social implications of ASD research. Dr. Daniels said that the Autistic Self Advocacy Network (ASAN) held a workshop on the same subject in December 2011. However, the funding for the ASAN workshop was not reflected in the data provided to the Planning Group. Members of the Group suggested holding additional workshops on related topics such as adult diagnosis. Ms. Meek said that there should be specific outcomes expected from the workshops, in terms of the dissemination/distribution of meeting materials to the autism community. Dr. Daniels suggested giving a workshop update to the Committee, including these ideas. The Group agreed that this objective had been accomplished but follow up activities should be considered.

1.L.A Identify behavioral and biological markers that separately, or in combination, accurately identify, before age 2, one or more subtypes of children at risk for developing ASD, and evaluate whether these risk markers or profiles can improve early identification through heightened developmental monitoring and screening by 2014. The overall recommended budget for this objective was met. Mr. Robison said that a great deal of research had been accomplished in this area. Dr. Boyle said that this was a two-part objective: identifying markers and evaluating them. Mr. Robison said that there appeared to be more biomarkers yet to be identified. Dr. Daniels said that while a number of potential biomarkers had been identified, there wasn't a validated set of markers ready for clinical use.

Dr. Boyle and Dr. Kau said that the field was still evolving, and that it took time to get tools from the laboratory to the community. Many markers may had been identified (e.g., imaging, genetics, blood tests), but they still needed to be evaluated and validated before they could be used in the clinic or the community. Dr. Daniels, having recently attended a meeting on biomarkers, said that most biomarkers were in the early stages and needed to be validated. Mr. Robison said that next-level work was needed to better evaluate promising markers. Dr. Daniels said that it also was her understanding from experts that the problem was not one of failure to pursue promising leads and identify candidates, but rather that many biomarkers identified to date had not done well in later stages of testing. The Group agreed that there was much more work needed on this objective.

1.L.B Develop at least five measures of behavioral and/or biological heterogeneity in children or adults with ASD, beyond variation in intellectual disability, that clearly relate to etiology and risk, treatment response and/or outcome by 2015. The overall recommended budget for this objective was partially met. Dr. Boyle said that a better understanding of treatment response and outcomes was needed. Ms. Meek said that a lot of heterogeneity had been identified. What wasn't known was how to use this information for treatment, and also how it related to response and outcome. It was noted that there is some overlap between this objective and Question 4 (Which Treatments and Interventions Will Help?).

Dr. Daniels said that developing five measures of heterogeneity had been an important research question 5 years ago. It appeared that researchers had tried to address that question. However, researchers had not started to investigate how those measures could be used to determine etiology, risk, treatment response, and outcomes. While the budget was partially met and there have been many studies, the research has not yet progressed to the stage of addressing etiology, risk, treatment response, and outcomes. Thus, more research is still needed in this area.

1.L.C Identify and develop measures to assess at least three "continuous dimensions" (i.e., social reciprocity, communication disorders, and repetitive/restrictive behaviors) of ASD symptoms and severity that can be used by practitioners and/or families to assess response to intervention for people with ASD across the lifespan by 2016. The overall recommended budget for this objective was partially met. Dr. Batra suggested that there are earlier signs of ASD that had not been evaluated. She also said that they were missing data on outcomes. Continuous dimensions that have not been addressed included motor skills, visual processing, and sensory processing.

The Group said that the objective wasn't clear whether the aim was to develop measures or to measure continuous dimensions Dr. Daniels said that the intent of this objective was to identify appropriate indicators/measures of continuous dimensions of ASD symptoms (e.g., joint attention as an indicator of social reciprocity). They agreed that while the basic research had been accomplished, more work was needed to advance it to the stage when it can be used by clinicians.

Other topics of discussion: Dr. Daniels explained the subcategory pie charts, which provide breakdowns of the research subcategories within Question 1 by funding by year. OARC developed the subcategory coding system to help the committee get a better sense of the overall content of the portfolio. The subcategories represent common research topics and themes within each Question area.

Dr. Daniels thanked the group for participating in the call.