IACC Strategic Plan
For Autism Spectrum Disorder Research
2011
Preface
Autism spectrum disorder (ASD) affects an estimated 1% of children in the United States and yet many fundamental questions about the biology of ASD, potential risk factors, effective treatments and interventions, and impacts throughout life remain unanswered. Important advances have been made in understanding the complexity of ASD, but additional work is needed to fully understand how biological and external environmental factors contribute to ASD, identify the most effective interventions and services, and improve the quality of life for people with ASD and their families. The IACC Strategic Plan for ASD Research was created with the intent to accelerate and inspire research that will profoundly improve the health and well-being of every person on the autism spectrum across the lifespan.
The Plan provides a blueprint for autism research that is advisory to the Department of Health and Human Services and serves as a basis for partnerships with other agencies and private organizations involved in autism research and services. Under the Combating Autism Act of 2006 (PDF – 49 KB), it must be updated on an annual basis. To this end, the 2011 Plan has been updated by the IACC to reflect important new scientific advances in the field over the past year, emerging areas of opportunity, and areas where more research is necessary. Input from the ASD community, advocacy groups, research funding organizations, and the scientific community has continued to be a critical aspect of the updating process.
"Federal and private investment in autism research has increased markedly in the past two years," said Dr. Thomas Insel, M.D., IACC Chair and Director of the National Institute of Mental Health (NIMH). "At the same time, the IACC has heard from the community about the growing need for research and the importance of new areas for rigorous scientific study. This updated research Strategic Plan builds on recent discoveries and emerging opportunities to identify new areas where science can make a difference for individuals and families with ASD."
The 2011 Plan includes an additional 16 objectives and newly developed addendum sections for each chapter describing what has recently been learned, what gap areas have emerged, and what progress is being made in fulfilling the objectives. The Committee has identified several important new areas of focus, including the need for additional research on the use of alternative and augmentative communication (AAC) to facilitate communication for nonverbal individuals with ASD. The Committee recognized the need for more research to determine which types of AAC are most effective for particular subpopulations and how best to improve access. In addition, the 2011 Plan now calls for studies focusing on health promotion and the prevention of secondary conditions in people with ASD such as injury, obesity, and other co-occurring medical and psychiatric conditions. Also included is a new focus on understanding potential biological causes of wandering/elopement behavior, an issue that was brought to the Committee's attention through compelling public testimony at an IACC meeting in 2010. Throughout the year, the Committee heard and discussed reports of people with ASD being at increased risk for injury or premature death, and recognizing the urgent need to fully understand the reasons for this and how it can be prevented, added a new objective to the Plan exploring a range of issues related to safety and mortality for people on the spectrum.
Notably, over the past year, agencies and organizations represented on the IACC have participated in many successful collaborative efforts that were highlighted by the Committee in this year's edition of the Plan. These public-private partnerships embody the spirit of collaboration described in the Plan's mission statement and are critical to making progress toward understanding ASD and improving the lives of people on the spectrum, as well as the lives of their families.
Introduction
Two decades ago, autism was a little-known, uncommon disorder. Today, autism is more common in the United States than childhood cancer, juvenile diabetes, and pediatric AIDS combined, and the increasing numbers of children being diagnosed with autism has created a national health emergency. In a speech at the National Institutes of Health on September 30, 2009, President Obama specifically cited autism, along with cancer and heart disease, as one of three health conditions targeted for major scientific research investment through the American Recovery and Reinvestment Act. The President expressed his hope that research into genetic and environmental factors would result in strides in early intervention, treatments, and therapies to help people affected by autism achieve their fullest potential.
Autism is now recognized as a group of syndromes denoted as autism spectrum disorder (ASD). The most recent Centers for Disease Control and Prevention (CDC) prevalence estimates of ASD for children are 1 in 110 (CDC, 2009). These estimates, more than tenfold higher than two decades ago, raise several urgent questions: Why has there been such an increase in prevalence? What can be done to reverse this alarming trend? How can we improve the outcomes of people already affected, including youth and adults?
Approaches to ASD diagnosis have evolved as more has been learned about the disorder. Currently, ASD is diagnosed on a combination of behavioral characteristics of impairment in verbal and nonverbal communication skills and social interactions, and restricted, repetitive, and stereotyped patterns of behavior. These characteristics can range in impact from mild to significantly disabling. Adequately addressing these conditions requires sophisticated educational and therapeutic approaches. Some people with ASD also have a range of medical conditions including, but not limited to: motor and sensory impairments, seizures, immunological and metabolic abnormalities, sleep problems, and gastrointestinal symptoms.
The cost of ASD to affected people, families, and society is enormous. A great majority of adults with ASD struggle with ongoing and mostly unmet needs for employment, housing, services, and supports. Compounding these stressors, families of a child with autism typically lose income, sometimes as a result of one parent leaving the workforce in order to care for and meet the special health and educational needs of the child (Montes & Halterman, 2008). The cost to society of ASD is currently estimated to be $35 billion to $90 billion annually, the higher estimate being comparable to Alzheimer's disease (Ganz, 2007; Knapp, Romeo & Beechum, 2009). Although research on ASD has expanded over the past decade, there remains an urgent need for increased research support.
It is imperative that resources be devoted to research commensurate with the public health need. Specifically, we need research that deepens our understanding of ASD, including the mechanisms by which complex genetic and environmental factors play a role in its causation; development of improved ASD diagnostic approaches and treatments; and science to enhance the level of services and supports available to people with ASD, their families, and caregivers. With current scientific knowledge and tools, we have unprecedented potential for discoveries that will improve the quality of life for people with ASD.
In response to the heightened societal concern over ASD, Congress passed the Combating Autism Act (CAA) of 2006 (P.L. 109-416) (PDF – 49 KB). Through this Act, Congress intended to rapidly increase, accelerate the pace, and improve coordination of scientific discovery in ASD research. The CAA requires the Interagency Autism Coordinating Committee (IACC) to develop and annually update a Strategic Plan for ASD research, including proposed budgetary requirements.
Driven by both the sense of urgency and a spirit of collaboration, the IACC developed an initial Strategic Plan for ASD Research in 2009 and revised it in 2010 and 2011 in accordance with the CAA. The Plan and its revisions were developed through extensive and iterative input from the public and members of the academic and advocacy communities.
In developing and revising the Strategic Plan, the IACC:
- Gathered ideas for research opportunities and objectives from a diverse group of stakeholders through convened working groups, public comments, and formal requests for information (RFIs).
- Convened town hall meetings in 2008 and 2009 (PDF – 79 KB) to gather public input.
- Convened scientific workshops in 2008 and 2009 to obtain input from subject matter experts in autism research.
- Convened a services workshop in 2010 to obtain input from subject matter experts in services and policy.
- Conducted an annual analysis of the ASD research portfolio spanning both Federal and private funders of ASD research, identifying research investments, opportunities, gaps, and progress.
- Reviewed the biomedical and services research literature for significant advances in the field and annually published an IACC Summary of Advances in ASD Research.
The Strategic Plan incorporates this array of input in two main sections. First, the foundation of the Plan—vision, mission, core values, and crosscutting themes—is described. The remainder of the Plan is organized around seven critical questions asked by people and families living with ASD:
- When should I be concerned?
- How can I understand what is happening?
- What caused this to happen and can it be prevented?
- Which treatments and interventions will help?
- Where can I turn for services?
- What does the future hold, particularly for adults?
- What other infrastructure and surveillance needs must be met?
Each question is followed by a brief discussion of what we currently know and need from research, an aspirational goal, research opportunities and objectives, and progress toward accomplishing research objectives. This framework was chosen by the IACC to emphasize the need for consumer-focused research that addresses the most pressing questions of people and families living with ASD, and to link these questions to specific research efforts.
Vision Statement
The Strategic Plan will accelerate and inspire research that will profoundly improve the health and well-being of every person on the autism spectrum across the lifespan. The Plan will set the standard for public-private coordination and community engagement.
Mission Statement
The purpose of the Strategic Plan is to focus, coordinate, and accelerate high-quality research and scientific discovery in partnership with stakeholders to answer the urgent questions and needs of people on the autism spectrum and their families.
Core Values
The IACC adopted these core values and emphasized their importance for the Strategic Plan development and implementation:
Sense of Urgency: We will focus on what steps we can take to respond rapidly and efficiently to the needs and challenges of people and families affected by ASD.
Excellence: We will pursue innovative basic and clinical research of the highest quality to protect the safety of and to advance the interests of people affected by ASD.
Spirit of Collaboration: 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.
Consumer Focus: We will focus on making a difference in the lives of people affected by ASD, including people with ASD, their families, medical practitioners, educators, and scientists. It is important to consider the impact of research on the human rights, dignity, and quality of life of people with ASD, from prenatal development forward.
Partnerships in Action: We will value cross-disciplinary approaches, data sharing, teamwork, and partnerships with clearly defined roles and responsibilities.
Accountability: We will develop SMART (Specific, Measurable, Achievable, Realistic, and Time-bound) research objectives aligned with funding priorities and develop systems for evaluation, assessing impact, and course corrections.
Crosscutting Themes
The Strategic Plan for ASD Research is designed to highlight the most promising research ideas, while appreciating the inherent unpredictability of research. These ideas form the basis for the research opportunities and objectives of the Strategic Plan. In the process of gathering ideas from ASD stakeholders for this Plan, certain themes emerged repeatedly. These themes are highlighted here to emphasize their importance across the framework.
Heterogeneity: Although certain core features are present at varying degrees among all people with ASD—i.e., social impairments, communication difficulties, and stereotyped behaviors—considerable heterogeneity exists as well. In the context of ASD, the term "heterogeneity" refers to the range of and variability in severity of behavioral and medical conditions and symptoms that may comprise the disorder.
There is little reason to assume that this spectrum identifies a single disorder. Rather, the spectrum encompasses a range of disorders. The heterogeneity of ASD poses both challenges and opportunities to researchers: Challenges because there are likely to be many different causal factors and trajectories for ASD subtypes, and opportunities because recognition of the variety of ASD phenotypes can lead to more appropriate diagnosis, more precisely targeted treatments, and increased public awareness about the diversity inherent in ASD. Heterogeneity has a profound impact on the priorities and tactics of ASD research, because any given study either must focus on a particular focal point on the spectrum, or must be sufficiently complex and resourced to encompass a broader range along the spectrum.
Acknowledging heterogeneity also has implications for intervention. With multiple causes and symptoms, there likely will be multiple ways and approaches to intervene (e.g., medical, behavioral, nutritional). In so doing, the ASD field will be more strategically positioned to determine what works best for which people.
Co-Occurring Conditions: Although autism is currently defined by abnormal behavior, several medical symptoms frequently occur in autism and are an additional source of disability. It is unknown whether these medical symptoms are a primary aspect of some forms of autism or whether they are secondary features. In this document, they will be referred to as co-occurring medical conditions, recognizing that future research may reveal that some of these features could be integral to the behavioral syndrome. In a recent report (PDF – 702 KB) from the Autism Treatment Network, a program funded by Autism Speaks in part through grants from the Health Resources and Services Administration (HRSA) and the National Institute of Mental Health (NIMH), 50% of children with ASD reported experiencing gastrointestinal problems and 65% reported sleep disturbances (Autism Speaks, 2010 (PDF – 702 KB)). Other health issues identified included food sensitivities, anxiety, depression, and seizures. Based on the literature, it is estimated that 22 to 38% of children with ASD experience seizures (Danielsson, 2005; Mouridsen, 2011). These co-occurring conditions, if not treated, can limit a person's ability to benefit fully from educational and behavioral interventions and fully participate in community life. And too often these conditions may not be treated. For example, nonverbal individuals may be unable to voice their health concerns, or clinicians may assume that these co-occurring symptoms are an inherent part of ASD. Research to understand the scope and cause of health conditions for those with ASD, along with the development of multidisciplinary health assessments and effective treatment guidelines, can immediately improve the quality of life for individuals with ASD and their families.
Prevention: It is critical for research to identify the methods and approaches that can be used to prevent the challenges and disabilities of ASD. Additionally, if one views ASD as a biological disorder triggered in genetically susceptible people by environmental factors, then prevention can include prevention of new cases of ASD through the identification and elimination of environmental causes. What is essential for ASD research is to develop the state of knowledge to a level similar to what is now available in fields such as cardiology. No longer do we need to wait for someone to suffer a heart attack before providing life-saving treatments. Rather, early interventions are applied upon the detection of risk factors so as to preempt these more serious consequences. Having sound research on the risk factors and the environmental triggers for ASD ultimately may allow us to achieve the goal of prevention: preventing the development of the disorder in some people at risk or reducing the degree of severity in those affected.
Earlier Detection: ASD is considered a developmental brain disorder that is currently diagnosed by the observation of core behavioral symptoms. As with many neurodevelopmental disorders, brain dysfunction may precede abnormal behavior by months or even years. However, without biomarkers to detect either people with ASD or at risk for ASD during pre- or neonatal periods, diagnosis must rely on behavioral observations long after birth. As a result, intervention efforts may miss a critical developmental window. Until recently, most children with ASD in the United States did not receive a diagnosis until school age, and diagnosis was further delayed among disadvantaged or rural populations (Mandell et al., 2007). It is critical that the field enhance methods for detecting ASD earlier in life and across diverse populations in order to bring about earlier intervention. Furthermore, a recurrent theme expressed during the scientific workshops for the Plan was the need for biomarkers to identify ASD risk before the behavioral manifestations and the delayed developmental trajectory are established.
Lifespan Perspective: Historically, ASD has been characterized as a disorder of childhood. Although most people with ASD will not outgrow their diagnosis, their symptoms will change in form and severity over time. There was great support during the development of this Plan for more research on ASD in older people, especially the need for practical strategies for increasing the quality of life and functioning of adolescents and adults with ASD. As people with ASD advocate for themselves and expand our knowledge of their experiences and needs, they become partners in the research effort.
Self-Determination: People with ASD can, with educational supports and accommodations, acquire skills to lead self-determined lives. Wehmeyer et al. (2010) define self-determined behavior as human behavior that is caused (i.e., determined) by the person as opposed to being caused by someone or something else. People leading self-determined lives make or cause things to happen, acting based on their own will, preferences, choices, and interests, instead of being coerced or forced to act in certain ways by others or circumstances (Wehmeyer et al., 2010 (PDF – 811 KB)). It is essential that ASD-related research incorporate and promote principles of self-determination. In addition, research is needed to help people with ASD incorporate principles of self-determination in their daily living.
Data Sharing: Data sharing allows researchers to (a) validate the research results of other investigators, (b) pool standardized information collected by many different researchers to facilitate rapid progress, and (c) use data collected by others to explore hypotheses not considered by the original investigators. The expectations for data sharing have increased with the recognition that larger samples are needed to answer many research questions and with the sense of urgency for making progress. Databases for neuroimaging scans and genomic sequence are already proving important for ASD research. Wide adoption of a standardized data sharing system like the National Database for Autism Research (NDAR) can provide the necessary infrastructure to combine important research participant data and thereby propel ASD research forward.
Resources: In addition to data sharing, research often depends on the availability and quality of research resources, such as access to scientific instruments and repositories of biospecimens. An important resource, paradoxically, is the identification, assessment, and collection of biospecimens from people who do not have the disorder, as a basis for comparison. Such comparison groups serve a critical role in interpreting ASD research and findings. Moreover, human resources such as adequate numbers of well-trained researchers and administrators are vital to these efforts. This need cannot be understated. Attracting a cadre of rigorously trained researchers, including those outside the ASD research field, will foster innovative ideas and interdisciplinary approaches.
Public-Private Partnerships: A strength of current ASD research is the degree of private involvement and investment in research funding from advocacy groups and committed stakeholders. In addition, the amount of research money awarded by the U.S. government for ASD research has grown rapidly over the past 10 years. There is currently a great willingness on the part of government agencies and private organizations to collaborate on the development and implementation of the Strategic Plan for ASD Research. In fact, the Strategic Plan is built on the premise that the public and private sectors will work collaboratively to better leverage resources to advance the research opportunities and objectives and to prevent unnecessary duplication of research efforts. The existence of such partnerships is a critical component in ensuring the success of the Plan.
Community Engagement in ASD Research: People with ASD, their families, their practitioners, their caregivers, and advocacy organizations have vital roles to play in shaping, participating in, and disseminating research. Their insights and perspectives are needed in order for interventions and services to be developed that will have maximal impact and have the strongest evidence and means for real-world uptake and utilization. The inclusion of stakeholders is also essential to ensure that the personal experiences of people with ASD and their families are reflected in scientific considerations, investment strategy, and research focus. Strategies are needed to increase community engagement in an effort to incorporate the firsthand experience of people with ASD, their families, and their caregivers into the Plan. Community engagement in study design, implementation, and analysis will maximize both the effectiveness and the relevance of new research. Community-based participatory research (CBPR) or participatory action research (PAR) models represent an important avenue to solicit the needed perspectives of people with ASD and their family members in autism research and should be adopted whenever possible.
Ethical, Legal, and Social Implications of Autism Research: As more progress is made in the autism research arena, new ethical, legal, and social implications of ASD research will need to be considered and taken into account by researchers and consumers of research findings. In particular, autism research including studies of genetics, diagnostic screening, and interventions pose unique ethical risks that require consideration both within research projects focused on other questions and in efforts dedicated specifically to exploring these ethical challenges and the appropriate responses to them. As such efforts are undertaken, it is critically important to include people with ASD, family members of individuals on the autism spectrum, and other stakeholder groups within the discussion.
