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IACC Strategic Plan Update Question 1 (Screening and Diagnosis) Planning Group Conference Call Announcement - November 12, 2013

meeting announcement Announcement
Topic Topic Description
Date: Tuesday, November 12, 2013
Time: 2:00 p.m. to 4:00 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) 889-6572
Access code: 7389268
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.

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meeting agenda Agenda

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

Time Event
2:00 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
2:10 p.m. Discussion of Progress Toward Meeting Strategic Plan Question 1 Objectives – "When Should I Be Concerned?" (Screening and Diagnosis)
3:25 p.m. Discussion of Progress Toward Meeting Question 1 Aspirational Goal: "Children at Risk for ASD Will Be Identified Through Reliable Methods Before ASD Behavioral Characteristics Fully Manifest."
3:55 p.m. Wrap-up and Next Steps
4:00 p.m. Adjournment

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meeting minutes Minutes

The Interagency Autism Coordinating Committee (IACC) Subcommittee for Basic and Translational Research Strategic Plan Question 1 Planning Group convened a conference call on Tuesday, November 12, 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. Dr. Susan Daniels, Ph.D., Executive Secretary, IACC presided.

Participants:

Susan Daniels, Ph.D., Executive Secretary, IACC, Office of Autism Research Coordination (OARC), (NIMH); Coleen Boyle, Ph.D., M.S. Hyg., Centers for Disease Control and Prevention (CDC); Geraldine Dawson, Ph.D., Duke University; Lisa Croen, Ph.D., Kaiser Permanente Division of Research; Ami Klin, Ph.D., Emory University; Shantel Meek, M.S., Administration for Children and Families (representing Linda Smith)

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 qualitatively evaluate the scientific progress made on the Question 1 objectives, and to identify any gaps with the help of external experts. In addition, the Group was to discuss progress made toward the aspirational goal of Question 1.

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

Dr. Daniels next reviewed materials prepared by the Office of Autism Research Coordination to provide funding and project information for Planning Group reference. All of the materials are available online. The materials included: a Compiled Objectives (cumulative funding) Table, a Project Data Table (2008-2010), and a Conclusions Table. The Compiled Objectives (cumulative funding) Table showed the alignment of funding across years (2008-2012) for each objective in Question 1. A Project Data Table (made available for the previous conference call) was provided to the Committee members, and is available online. This Table included some live links for 2008-2010 projects the 2008 through 2010. The Conclusions Table was a compilation of initial determinations about the funding progress on Question 2 objectives made by Question 1 Planning Group Members during the previous conference call. This table provided a brief summary of the discussion of each objective.

Dr. Daniels next guided the Group through discussion of research progress, gaps, and barriers for each of the objectives.

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 Planning Group had previously agreed that the recommended budget had been met. However, remaining gaps included the need to develop instruments to target diverse populations, and the need to continue developing instruments that were ready for wide use.

Dr. Geraldine Dawson said that while funding recommendations had been met for some of the objectives, in some cases the objectives had not been completed. For example, For Objective 1SA, there was a project aimed at developing a shorter version of the Autism Diagnostic Interview Revised (ADI-R). However, even after initial development of the tool, validation of such a tool still would be needed. Therefore, the objective could not be considered completed. The Group also recognized that many children who were screened positive did not end up receiving treatment. Dr. Dawson noted that one study had shown that only 60 percent of parents whose children had screened positive in the primary care setting actually followed up with a diagnostic evaluation.1

The Group agreed that there was a need to educate and better engage parents so that more children would receive follow up after positive screen results, and improve access to care. Another point of concern was that existing tools were not widely used in the community. Dr. Ami Klin suggested that the reasons for this had to do with costs – instrument costs, training costs, the costs of maintaining reliability, and the costs of the time required for the use of the instruments. Dr. Lisa Croen noted that the important work would be to determine why screening tools weren't widely used in the community, and to improve the level of screening in that setting. She said that there was a need for validation of screeners for use in diverse populations (e.g., low-literacy populations, non-English speakers, immigrants) . They agreed that more work is needed to develop screening and diagnostic instruments that are very low-cost/free, and applicable in diverse settings.

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. Previously, the Planning Group had agreed that the recommended budget had been met, and more diverse populations had been addressed. However, comparative studies between general developmental screeners and autism-specific tools were needed. Dr. Klin said that Dr. Amy Wetherby was working on comparing broad general development screening tools with autism-specific screeners. He suggested that they get her insight. He also mentioned the work of Dr. Diana Robins in Atlanta, who was working at one facility with a patient population that was 90 percent African American. Every physician was directed to implement screening. Even when families were offered free evaluations, many did not follow through with that request, let alone try to access care.2

Ms. Shantel Meek briefly reviewed the Survey of Wellbeing of Young Children (SWYC), which was a behavioral screening instrument that includes an autism component. The research on this screener would provide an opportunity to compare a general screener with an autism-specific screener (component). The members briefly discussed autism screening in around the world. Dr. Croen said that many screening tools were developed for white or Western cultures, and needed to be tailored for and validated in diverse settings. Dr. Klin said that for the future, everyone needed better ways to train trainers, better ways to bring important parts of the community together, and a common language of concern about child development. Ms. Meek added that screening tools needed to be made more usable by anyone who worked with children, and not just limited to highly trained, specialized professionals, who may not be available in all communities.

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 Planning Group previously had agreed that the recommended budget had been partially met, but more work was needed. They noted that the studies coded to this objective did not focus on identifying the reasons for screening and diagnosis disparities, but rather focused on developing tools to address the disparities. Dr. Klin said that so much more progress has been made in other diseases (e.g., AIDS) with respect to disparities. In autism, very little work has been done on how to be more effective in particular cultures. The Group agreed that the next steps should be to identify the barriers to early screening, diagnosis, and services in under-served populations, and to develop possible solutions. Dr. Croen pointed out that some of the needed studies may need to be qualitative, which were hard to conduct and to fund.

1.S.D Conduct at least two studies to understand the impact of early diagnosis on choice of intervention and outcomes by 2015. Dr. Daniels said that no projects were coded to this objective in the Portfolio Analysis, but it was possible that some projects could overlap with those of other questions or objectives. During the first call, the Planning Group had identified possible barriers: the difficulty of finding a late diagnosis cohort for comparison, and the more general difficulties of carrying out large longitudinal studies. Dr. Dawson said that one study,3 which had compared the LEAP (Learning Experiences and Alternate Program) model to the TEACCH approach and to non-model-specific special education programs for preschool-aged children, had shown no differences in outcomes. Members indicated some confusion over the intent of this objective as it was written. Dr. Dawson said that when the objective was written some self-advocates had been concerned that ABA could have positive and negative effects compared with more naturalistic early-intervention approaches. There was also a sense that the age of diagnosis could impact the choice of modality of treatment, but that since then, early behavioral interventions had come into wider use, possibly making this objective less relevant. The Group agreed that a review of the history of this objective was necessary to better understand the intent and determine if this objective should be kept, dropped or modified in the future to make it clearer.

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. Previously, the Planning Group had agreed that the recommended budget had been partially met. However, they wanted to know the state of the science from the experts, and whether this objective should remain a priority. Dr. Croen noted that while there were guidelines4 for array comparative genomic hybridization (CGH) testing and it was recommended, there was disagreement about its usefulness for families. The tests resulted in many findings but, the implications of those findings were not known. Research was needed to understand the impact on families and providers. Dr. Dawson noted that the AAP5 recommended that microarray testing be performed. She suggested that large databases could be useful to map microarray findings to clinical phenotypes.

Dr. Klin said that this type of testing was useful after there was a concern about a child's development. However, this objective was about using genetic/genomic testing to identify risk. He noted that this was a critical area of research, with private companies advertising this type of service to consumers. Dr. Dawson said that the objective was written in terms of microarray testing being used in the clinical setting after diagnosis, not in the general population. The question was whether the test would be useful, and to what extent. Would there be implications for treatment? Dr. Klin said that it was difficult to know what impact this type of testing would have because there are no prevalence rates for the mutations in the general population. Dr. Daniels said that there was some overlap between this objective and objectives in Question 3. That Planning Group agreed.

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. Dr. Daniels said that NIH and OARC had co-sponsored a workshop on this topic in in 2011. The videocast from the workshop was posted on the IACC Website, under Autism Events. During the first call, the Planning Group had suggested that follow-up activities might include additional workshops on specific related topics. Dr. Klin said that biological assays would be used in the future. However, there were major bioethical issues that needed to be thoughtfully addressed. He briefly mentioned a few of these, including risk communication and health disparities.

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. During the last call, the Planning Group had agreed that the recommended budget had been met. More than 40 projects had been supported in this area. Dr. Croen said that there have been many studies funded to identify biomarkers, and not all were limited to searching for early biomarkers, but at this point, research remains in the discovery phase. Biomarker research has not yet advanced to the stage of using biomarkers to improve diagnosis. Dr. Coleen Boyle agreed that there was promising work, but at present, no biomarkers are ready for clinical use.

In addition, some of the biomarkers under investigation simply were not translatable to the community because of the technology required, which would be too expensive to be practical in many community settings. Dr. Klin added that there have been some biomarkers that were shown to separate populations but not to identify individuals, which was the ultimate goal. High levels of sensitivity and specificity would be needed.

Dr. Dawson pointed out that much of the biomarker research often had involved high-risk populations. These would need to be validated in the general population. These were no markers that could be used in the clinical setting as a frontline biomarker. She added that where were no good biomarkers to predict treatment response, or to identify biological subtypes. Research in this area was needed.

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 Planning Group had agreed that the recommended budget had been partially met, and more than 50 projects had been supported in this area. Dr. Croen said that there were no markers/measures of subtypes, and there were no markers/measures linked to etiology, risk, or treatment outcomes. Dr. Dawson asked whether it would be useful to broaden the objective to incorporate the NIMH's Research Domain Criteria project (RDoC) perspective. She said that it might be useful to expand some dimensional characteristics (e.g., repetitive behaviors, and social reciprocity) to understand how these went across different disorders, and possibly linked them to underlying biological systems. They agreed that much research is 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 Planning Group agreed that the recommended budget was partially met, and that the basic aspects of the research were underway. Dr. Dawson said that the intent of this objective was to develop measures that could be used in a wide range of research, including outcome research (e.g., clinical trials). Dr. Boyle suggested that this objective was better suited to the RDoC approach. Dr. Dawson said that Autism Speaks had sponsored full reviews of outcome measures in the areas of social reciprocity, anxiety, and repetitive/restrictive behaviors (papers in press).

The general conclusion was that there were not many good measures that were sensitive enough to change that they could be used in a large clinical trial. Dr. Dawson listed a few of the existing measures: the Social Withdrawal Subscale of the Aberrant Behavior Checklist, and the PDD Behavior Inventory. However, these had not been not validated enough that pharmaceutical companies had confidence in them, she said. Dr. Klin said that one of the concerns in this area had been that some of those checklists and the clinical rating scales tended to have very few levels in the scale. Quantifying social behavior was very difficult using very blunt instruments. He said that the real need was for performance-based measures, in the context of treatment protocols that were known to benefit children. Dr. Klin said that quantification was needed, and perhaps incentives were needed to make those kinds of studies happen.

Dr. Dawson agreed, saying that studies needed to be specifically targeted to the objectives. One option would be to write specific Requests for Applications (RFAs) to address this research need. The Group briefly discussed the funding/project tables and the "Other" category for clarity.

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

Dr. Klin said that there was a need for a mechanism that would allow easier translation from the small scale to the large scale and from the laboratory to the community. The real goal was to have a diagnostic test that could be used easily in the clinic. Dr. Klin summarized his recent work developing a quantitative measure of eye gaze, which when repeated over time in young infants, appeared to be predictive of ASD development.6 However, the results would need to be replicated in a large clinical trial. Dr. Dawson noted that there also had been a number of other early markers recently identified that related to: motor impairments, difficulties in disengagement of attention, electrophysiological measures, EEG alpha asymmetry, and differential patterns of functional connectivity based on mirrors.

The next step would be to try to understand these markers in other populations, including the general population. Dr. Klin added that a marker would have to meet two challenges: (1) was the result meaningful only to groups or does it have meaning for an individual child, and (2) how meaningful were the results for a diverse "real-world" population, rather than a high-risk population.

He suggested that instead of measuring the disorder itself, perhaps they should be thinking about measuring for deviation of trajectories in key aspects of development instead. This might end up being a very broad-based screener for developmental vulnerabilities. The Group also emphasized the need to address disparities – socioeconomic, ethnic, cultural – and by developing tools and strategies to overcome these barriers. Screening tools needed to be useful in a wide variety of settings in the community.

Dr. Daniels briefly described the agenda for the November 15, 2013 Workshop. She thanked everyone for their participation.

Adjournment

The conference call was adjourned at 3:13 p.m.

Certification

I hereby certify that this meeting summary is accurate and complete.

/Susan Daniels/ December 6, 2013
Susan A. Daniels, Ph.D.
Executive Secretary, Interagency Autism Coordinating Committee

References

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

2 Herlihy LE1, Brooks B, Dumont-Mathieu T et al. Standardized screening facilitates timely diagnosis of autism spectrum disorders in a diverse sample of low-risk toddlers. J Dev Behav Pediatr. 2014 Feb-Mar;35(2):85-92. [PMID: 24509053]

3 Boyd BA, Hume K, McBee MT et al. Comparative efficacy of LEAP, TEACCH and non-model-specific special education programs for preschoolers with autism spectrum disorders. J Autism Dev Disord. 2014 Feb;44(2):366-80. [PMID: 23812661]

4 American College of Obstetricians and Gynecologists Committee on Genetics. Committee Opinion No. 581: The use of chromosomal microarray analysis in prenatal diagnosis. Obstet Gynecol. 2013 Dec;122(6):1374-7. [PMID: 24264715]

5 Committee on Bioethics, Committee on Genetics, American College of Medical Genetics, Genomics Social, Ethical, and Legal Issues Committee. Policy statement: ethical and policy issues in genetic testing and screening of children. Pediatrics. 2013;131(3):620-622. [PMID: 234429433]

6 Jones W, Klin A. Attention to eyes is present but in decline in 2-6-month-old infants later diagnosed with autism. Nature. 2013 Dec 19;504(7480):427-31. [PMID: 24196715]


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meeting materials Materials

Conclusions by Objective for Question 1 (Screening and Diagnosis)

Prepared for IACC Strategic Plan Update Question 1 Planning Group Conference Call November 12, 2013

IACC Strategic Plan Objectives Planning Group Summary Funding
2008-2013

IACC Strategic Plan Objectives

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.

IACC Recommended Budget: $5,300,000 over 2 years

Planning Group Summary

The recommended budget for this objective was met. Remaining gaps include the need to develop instruments that target diverse populations, and work needs to continue to develop instruments that are ready for broad deployment.

Funding 2008-2013

$14,368,811

IACC Strategic Plan Objectives

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.

IACC Recommended Budget: $5,400,000 over 3 years

Planning Group Summary

The recommended budget for this objective was met, and more diverse populations were addressed. However, comparative studies between general developmental screeners and autism-specific tools are missing.

Funding 2008-2013

$10,761,298

IACC Strategic Plan Objectives

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.

IACC Recommended Budget: $2,000,000 over 2 years

Planning Group Summary

The recommended budget has been partially met. The projects supported are only a beginning and more needs to be done to address this question. While the studies coded to this objective do not focus on identifying reasons for early screening and diagnosis disparities, they are aimed at developing tools to address these disparities.

Funding 2008-2013

$796,593

IACC Strategic Plan Objectives

1.S.D. Conduct at least two studies to understand the impact of early diagnosis on choice of intervention and outcomes by 2015.

IACC Recommended Budget: 6,000,000 over 5 years

Planning Group Summary

No projects have been initiated in this area, though there may be some projects coded to question 4 that represent progress on this objective (e.g. Early Start Denver Model studies that look at children who were diagnosed early and some of their outcomes following treatment.) Possible barriers identified include the difficulty of finding a late-diagnosis cohort for comparison, and the more general difficulties of carrying out large, longitudinal studies.

Funding 2008-2013

$0

IACC Strategic Plan Objectives

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.

IACC Recommended Budget: $9,600,000 over 5 years

Planning Group Summary

The recommended budget for this objective has been partially met. The committee would like an update from experts in the field about the applicability of microarray testing, but questions whether or not this objective should remain a priority – it is resulting in useful knowledge for the field and for the community?.

Funding 2008-2013

$4,143,183

IACC Strategic Plan Objectives

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.

IACC Recommended Budget: $35,000 over 1 year
*completed in 2011

Planning Group Summary

The recommended budget for this objective was met and the objective was accomplished as the committee intended. Follow-on activities may be warranted in the form of future workshops focusing on particular subtopics of interest.

Funding 2008-2013

$71,489

IACC Strategic Plan Objectives

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.

IACC Recommended Budget: $33,300,000 over 5 years

Planning Group Summary

The recommended funding for this objective has been met, and more than 40 projects have been supported in this area.  Identifying reliable early biomarkers has been challenging, but some progress has been made.  Invited experts may be able to share information about progress made in this area and remaining needs/barriers.

Funding 2008-2013

$57,932,106

IACC Strategic Plan Objectives

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.

IACC Recommended Budget: $71,100,000 over 5 years

Planning Group Summary

The budget for this objective was partially met and over 50 projects were supported in this area. While behavioral and/or biological heterogeneity are well covered by existing projects, gaps still exist in relating these to etiology and risk, treatment response, and/or outcomes.

Funding 2008-2013

$51,951,069

IACC Strategic Plan Objectives

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.

IACC Recommended Budget: 18,500,000 over 5 years

Planning Group Summary

The budget for this objective was partially met. Basic aspects of the research are underway, but more work is needed for the studies to be applied for use by practitioners and/or families.

Funding 2008-2013

$10,620,318

IACC Strategic Plan Objectives

Not specific to any objective

Planning Group Summary

 

Funding 2008-2013

$36,124,099

This document is for discussion purposes only and does not reflect the decisions of the IACC

Highlighting of each total gives an indication of the progress toward meeting the IACC recommended budget for each objective. Green highlighting indicates that funding fully meets the recommend budget. Yellow highlighting denotes that funding for a particular objective partially meets the IACC recommended budget, while red highlighting indicates that there has been no funding towards the particular objective.
blue text is an insertion
red text is a deletion


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