2011 IACC Strategic Plan

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suggested citation follows.

SUGGESTED CITATION

Interagency Autism Coordinating Committee. 2011 IACC Strategic Plan for Autism Spectrum Disorder
Research. 2011 Jan. Retrieved from the Department of Health and Human Services Interagency
Autism Coordinating Committee website at http://iacc.hhs.gov/strategic-plan/2011/index.shtml.

ABOUT THE IACC
The Interagency Autism Coordinating Committee (IACC) was established by
Congress under the Combating Autism Act of 2006 (CAA) to provide advice
to the Secretary of Health and Human Services (HHS) and coordinate all
efforts within HHS concerning autism spectrum disorders (ASD).

As mandated by law, the IACC has a membership composed of Federal
officials from agencies involved in autism research and services and public
members, including people with ASD, parents of children and adults with
ASD, and members of the autism advocacy and research community. The
diversity of the Committee ensures that a broad range of views and opinions
is reflected and discussed in a public forum.
Under the CAA, the IACC is required to (1) develop and annually
update a Strategic Plan for ASD research, (2) develop and annually
update a summary of advances in ASD research, and (3) monitor
federal activities related to ASD.

In developing and updating the IACC Strategic Plan for Autism Spectrum
Disorder Research since it was first released in 2009, the IACC has laid out a
framework for the pursuit of critical biomedical and services research.
Through activities such as public meetings and workshops, publication of an
annual Summary of Advances in ASD Research, dissemination of information
regarding ASD research and IACC activities, gathering of public input and
coordination of Federal activities related to autism, the IACC continues in its
effort to provide guidance to the Department of Health and Human Services
and to reach out to the broader autism community to find ways to work
together to help people with autism and their families.
***

For more information about the IACC, see www.iacc.hhs.gov.

TABLE OF CONTENTS
Introduction ......................................................................................................................................................... 1
Vision Statement, Mission Statement, and Core Values ............................................................... 3

Crosscutting Themes .................................................................................................................................... 4

Question 1: When Should I Be Concerned? ....................................................................................... 8

2011 Addendum .......................................................................................................................................... 10

Question 2: How Can I Understand What Is Happening?....................................................... 16
2011 Addendum .......................................................................................................................................... 18

Question 3: What Caused This To Happen and Can It Be Prevented? ........................... 25

2011 Addendum .......................................................................................................................................... 29

Question 4: Which Treatments and Interventions Will Help? ........................................... 37

2011 Addendum .......................................................................................................................................... 39

Question 5: Where Can I Turn For Services?................................................................................. 47
2011 Addendum .......................................................................................................................................... 49

Question 6: What Does The Future Hold, Particularly For Adults?................................. 54

2011 Addendum .......................................................................................................................................... 55

Question 7: What Other Infrastructure and Surveillance Needs Must Be Met? ...... 61

2011 Addendum .......................................................................................................................................... 63

Research Resources ..................................................................................................................................... 73
References .......................................................................................................................................................... 78

Committee Roster .......................................................................................................................................... 94
Office of Autism Research Coordination Staff List ..................................................................... 96

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, 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

2011

The Interagency Autism Coordinating Committee (IACC) Strategic Plan
for Autism Spectrum Disorder Research
INTRODUCTION
Two decades ago, autism was a littleknown, 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.

IACC Strategic Plan for ASD Research | 1

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). 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.

Introduction

2011

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 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.

2 | IACC Strategic Plan for 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 consumerfocused 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

Introduction

2011

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 highquality 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.

IACC Strategic Plan for ASD Research | 3

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

Introduction

2011

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,

4 | IACC Strategic Plan for ASD Research

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
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).
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 cooccurring 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 cooccurring 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

Introduction

2011

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

IACC Strategic Plan for ASD Research | 5

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). 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.

Introduction

2011

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.

6 | IACC Strategic Plan for ASD Research

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

Introduction

2011

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.

IACC Strategic Plan for ASD Research | 7

1. WHEN SHOULD I BE CONCERNED?
•

What are the early signs of ASD?

•

Are there typical characteristics
that are part of an ASD diagnosis?

•

How do variations in symptoms and
severity create challenges in early
diagnosis of ASD?

WHAT DO WE KNOW?
A child’s caregivers are often first to
identify the signs of ASD. In the classic
case, there may be delays or plateaus in a
child’s attainment of developmental
milestones, such as the use of gestures,
responding to name, or the onset of
speech and pretend play. In other cases,
the first signs of ASD occur in young
children who appear to regress after they
seem to have been developing normally.
Current diagnostic criteria and
classifications of ASD represent progress
in identifying a core set of developmental
symptoms that, in the past, might have
been attributed to other disorders
because of more narrowly defined ASD
evaluation criteria.

The diagnosis of ASD can be reliably made
by age 3, because the core symptoms
emerge by that time. However, most
children eventually diagnosed with ASD
exhibit signs of abnormal development
well before the age of 2. Recent studies of
children at high risk because of the
presence of a sibling with ASD suggest
that many cases of autism can be detected
by 12 months of age using simple
behavioral tests, such as response to
calling the child’s name or ease of
engaging the child in jointly looking at an
object (Landa, Holman & Garrett-Mayer,

Question 1: When Should I Be Concerned?

2011

2007). Nevertheless, the median age of
earliest ASD diagnosis is 4½ years of age
(CDC, 2009). A number of screening tools
have been developed for detecting autism
for children of varied ages and different
levels of clinical variability. There are
tools available for parents and caregivers,
including a video glossary of early “red
flags” of ASD in young children developed
to help families and professionals learn
how to identify subtle differences in
development that may indicate areas of
concern (Wetherby et al., 2007). In terms
of diagnosis, there is emerging evidence
that tools can be developed with
sufficiently high sensitivity and specificity
to support epidemiologic and risk factor
studies.

Nationwide, there has been an effort to
improve early identification of children
with ASD to improve their functioning
and outcomes. A recently published
randomized, controlled trial
demonstrated how a comprehensive
developmental behavioral intervention
for toddlers with ASD led to
improvements in cognitive and adaptive
behavior, thereby emphasizing the
importance of early identification of and
intervention for young children with ASD
(Dawson et al., 2010). Various public
campaigns, including the CDC’s “Learn the
Signs. Act Early,” have been initiated in
recent years to raise awareness about the
importance of early identification of
developmental delays, including those
associated with ASD. The American
Academy of Pediatrics (AAP)
recommends screening children for ASD
at 18 and 24 months with a standardized
screening tool (Council on Children with
Disabilities, 2006).

8 | IACC Strategic Plan for ASD Research

Question 1: When Should I Be Concerned?

WHAT DO WE NEED?
Most cases of autism and related
disorders are not diagnosed until after a
child’s third birthday and sometimes not
until adulthood, yet early intervention can
have a critical influence on the future
course of ASD. Moreover, many children
from culturally, linguistically, and other
diverse groups may have limited access to
assessment services, leading to delays in
diagnosis (Mandell et al., 2007). Several
issues have limited the use of early
interventions. It remains difficult to
diagnose ASD in very young children
because there is considerable healthy
variation in the age at which infants and
toddlers reach typical developmental
milestones (e.g., speech), and delays do
not always indicate the presence of a
disorder. The diagnosis of ASD in a person
of any age is currently based on
behavioral and cognitive signs reflecting
abnormal brain development, but not on
detection of brain or other biological
differences that may be present before
the emergence of the behavioral or
cognitive signs. The discovery of reliable
biomarkers could potentially identify
people with ASD, or infants who will
subsequently develop or are already
developing subtle signs of ASD.
Children with ASD develop along different
trajectories. Some show abnormal
behavior soon after birth; some develop
normally for the first year or longer and
then regress; while others appear to later
improve significantly. Greater clarity is
needed in identifying these different
trajectories, and greater consistency is
needed in applying their definitions.
Health care and other early care and
education providers may not have

2011

received training in recognizing the early
warning signs of ASD. Pediatricians may
not have received training on using
existing screening tools at well checkups
as recommended by the American
Academy of Pediatrics (Council on
Children with Disabilities, 2006). And
some caregivers may be unaware of the
early warning signs of ASD or where to
access services, leading to delays in
diagnosis.

Although families are eager for guidance,
more research is needed to better answer
the question of when developmental
variation should become cause for
concern. Studies that test both new and
current diagnostic and screening methods
and that integrate both developmental
and biologic approaches in communitybased settings are needed. In particular,
studies need to be designed to validate
methods in underrepresented minorities
and disadvantaged populations. Such
studies could increase the understanding
of barriers to diagnosis and access to
services. Taken together, earlier
identification, coupled with increased
access to interventions and services,
could reduce disparities in health care
and service provision and ultimately
improve outcomes for people with ASD.

Scientific studies of ASD require the
reliable diagnosis of participants, but this
can be a time-consuming and laborintensive process. Therefore, streamlined
diagnostic approaches that facilitate the
enrollment of research participants are
needed. Researchers also need ASD
measures that are easy to administer and
are sensitive to changes in clinical status.
With regard to heterogeneity, identifying
characteristics that are specific to certain
ASD subpopulations could potentially

IACC Strategic Plan for ASD Research | 9

identify neurobiological and genetic
markers and improve our understanding
of more global causal and intervention
mechanisms.
2011 ADDENDUM TO QUESTION 1:
WHEN SHOULD I BE CONCERNED?

WHAT IS NEW IN THIS RESEARCH AREA, AND
WHAT HAVE WE LEARNED THIS PAST YEAR?
The prevalence of autism continues to
rise, according to the most recent data
gathered by the Autism and
Developmental Disabilities Monitoring
(ADDM) Network, supported by the
Centers for Disease Control and
Prevention (CDC), indicating that nearly
1% of children in the United States have
an ASD diagnosis. This reflects an
increase of 57% over a four-year period.
Importantly, the mean age at diagnosis
did not change significantly over this time
period, with most children not diagnosed
until age 3 to 5 years (Wiggins, Baio &
Rice, 2006; CDC, 2009). A second study
from the large National Survey of
Children’s Health, sponsored by the
Health Resources and Services
Administration (HRSA), used very
different study methods from those used
in the ADDM project, but also reported an
ASD prevalence rate of approximately 1%
in children (Kogan et al., 2009).

Research from three important studies
over the past year has pointed to the
importance of factors that place children
at increased risk for ASD. Findings
indicate the role of underlying genetic
disorders and prenatal risk factors that
may warrant screening and early followup, and in some instances more specific
medical workup. First, an evidence-based
review of a large clinical series of people

Question 1: When Should I Be Concerned?

2011

with ASD and with other developmental
disorders concluded that using
chromosomal microarray resulted in
considerably higher diagnostic sensitivity
for genetic testing than did G-banded
karyotyping, particularly for
submicroscopic deletions and
duplications (Miller et al., 2010). Second,
a study by Johnson et al. found that very
preterm birth (<26 weeks gestational
age) was associated with a much higher
risk of developing ASD, with a prevalence
of 8% diagnosed by age 11. While early
gestational age has been identified as a
risk factor for ASD, previous studies have
lacked the power to examine children
born at such vulnerable gestational ages.
A third study of 7.9 million children in
California showed that older fathers and
mothers were more likely to have a child
with autism as compared with younger
parents (Grether et al., 2009). Evidence is
also accumulating on the developmental
trajectory for autism. A 2010 prospective
study showed little deviation between
children who eventually developed
autism and typically developing children
up to age 6 months, after which time
measurable differences emerged (Ozonoff
et al., 2010). Importantly, while a
decrease in developmental trajectory of
skills was found in the majority of
children, it was not identified by most
parents, suggesting current limitations in
the use of parent-identified early markers
of ASD in the first year of life. Also, Klin et
al. found that as compared with typically
developing toddlers, toddlers with ASD
paid more attention to stimuli in which
sound and motion were synchronous.
This difference in sensory processing may
be connected to the tendency of people
with ASD to focus on the mouth rather
than the eyes in conversation.

10 | I A C C S t r a t e g i c P l a n f o r A S D R e s e a r c h

Two important studies highlighted work
on the barriers to early screening and
diagnosis. Evaluation of the
implementation of the AAP
recommendations for developmental
surveillance was conducted in 17 diverse
pediatric practices and demonstrated
reasonable success in implementing
ongoing screening (85% of practices
screened children at recommended
screening ages), but also found that
pediatric practices experienced
challenges in referral for medical
subspecialty care and early intervention
(King et al., 2010). A second study
evaluated the diagnostic sensitivity of the
various parent/caregiver autism Level 2
screening scales for children older than 3
years—beyond the AAP-recommended
screening ages—and concluded that even
in this older age group, while some tests
performed well, overall, more scientific
evidence is needed for these instruments
(Norris & Lecavalier, 2010).
WHAT GAPS HAVE EMERGED SINCE LAST
YEAR?

Recent data show that girls are diagnosed
with ASD at a later age than are boys
(Giarelli et al., 2010; Shattuck et al.,
2009). Examination of the 2009 IACC ASD
Research Portfolio Analysis shows that
studies in girls and minority
racial/ethnic/socioeconomically
disadvantaged populations remains a gap
area (IACC, 2010). While possible reasons
for this disparity—including different
clinical manifestations of ASD by gender
and cultural differences in accepted or
anticipated behaviors in girls relative to
boys—are unclear, gender should be
included as an important disparity factor

Question 1: When Should I Be Concerned?

2011

in studies examining barriers to early
screening and diagnosis.

There are important ethical, legal, and
social implications resulting from the
study by Miller et al. (2010), particularly
relating to screening for genetic and other
markers for autism and other
developmental disorders. There is a
diverse range of opinions in the autism
community on early screening for autism,
ranging from strong support for
developing biologic prenatal screening
methods to concerns that such efforts
may lead to selected terminations of
fetuses showing genetic or other
biomarkers of increased risk. It is
imperative that autism research proceed
with the appropriate precautions and
safeguards and that the concerns of the
autism community are reflected in this
process. At this point, the state of the
science is focused on improving early
screening in the first years of life to
identify risk for ASD in order to initiate
early intervention to reduce or prevent
the development of disabling symptoms
and promote positive skill development.
The study by King et al. (2010) highlights
the need for a clearer understanding of
the challenges and barriers to screening
and referral. Studies are needed to
determine the factors that lead to
implementing screening and referral
programs that successfully serve children
with ASD and their families. Studies
should include factors relating to the
clinical practice, availability, and
collaboration among community-based
services, and information needs of
parents, other caregivers, and early
educators.

I A C C S t r a t e g i c P l a n f o r A S D R e s e a r c h | 11

There is a lack of reliable and valid
screening and diagnostic tests for use in
international, resource-poor settings.
Early screening and diagnosis, when
coupled with inexpensive, parent-guided
interventions, is an important potential
prevention strategy in such settings.

Question 1: When Should I Be Concerned?

Research is needed to identify effective
methods for identifying children at higher
risk for ASD, such as extremely preterm
children and children with a sibling with
ASD, in community screening efforts.
Although the AAP recommends ongoing
developmental and autism-specific
screening in the first few years of life,
establishing risk profiles indicating the
need for heightened monitoring of
development among some children
warrants investigation as an additional
tool to improve early identification.

12 | I A C C S t r a t e g i c P l a n f o r A S D R e s e a r c h

2011

Question 1: When Should I Be Concerned?

2011

ASPIRATIONAL GOAL:
CHILDREN AT RISK FOR ASD WILL BE IDENTIFIED THROUGH RELIABLE METHODS
BEFORE ASD BEHAVIORAL CHARACTERISTICS FULLY MANIFEST.

RESEARCH OPPORTUNITIES
•

•

•

•

•
•

•
•

Valid and reliable ASD screening instruments and approaches, including general
developmental screening instruments for use in community settings to identify a wide
range of people, including younger children, adolescents, adults, people with cooccurring medical conditions, and people with subtle characteristics, who require
diagnostic evaluation.
Sensitive and efficient clinical diagnostic tools for diagnosing ASD in widely diverse
populations, including underrepresented racial and ethnic groups, females, younger
and older age groups, and people with co-occurring medical conditions.

ASD measures that are easy to administer and sensitive to incremental changes in both
core and associated ASD characteristics. Such measures can be used to help track the
clinical course of people with ASD, monitor responses to interventions, and provide
information about the broader autism phenotype.
Detailed criteria for specific ASD subtypes in order to better describe the variations in
characteristics and severity and study how these variations relate to underlying
pathology, intervention strategies, and outcomes.

ASD subpopulations and associated biobehavioral markers that provide early indication
of ASD risk and opportunities for appropriate early intervention.
Protocols for genetic testing in routine clinical practice in order to identify people at
risk for ASD. Identification of people with genetic variations associated with ASD will
facilitate intensive studies of ASD subpopulations with shared genetic risk factors to
characterize common phenotypic and biological features.

Inclusion of ethical considerations into the diagnosis and screening processes, including
consideration of the implications of genetic testing.
Addressing barriers to the use of screening and diagnostic tools in minority populations
and in community settings, including training programs for professionals.

I A C C S t r a t e g i c P l a n f o r A S D R e s e a r c h | 13

SHORT-TERM OBJECTIVES

2009

Question 1: When Should I Be Concerned?

2011

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.

B. Validate and improve the sensitivity and specificity of new or existing
screening and diagnostic tools, including comparative studies of general
Revised in
2010 & 2011
developmental screening versus autism-specific screening tools, in both
high-risk and population-based samples, including those from resourcepoor 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.

2009

C. Conduct at least three studies to identify reasons for the health
disparities in accessing early screening and diagnosis services, including
Revised in 2011
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.

2010

2010
2011

2011

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.

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.
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.

Note: Dates that appear next to the objectives indicate the year that the objective was added to the Strategic
Plan. If the objective was revised in subsequent editions of the Plan, the revision date is also noted.

14 | I A C C S t r a t e g i c P l a n f o r A S D R e s e a r c h

LONG-TERM OBJECTIVES

Question 1: When Should I Be Concerned?

2011

A. Identify behavioral and biological markers that separately, or in
combination, accurately identify, before age 2, one or more subtypes of
Revised in
2010 & 2011
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.

2009

2009

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.

C. Identify and develop measures to assess at least three “continuous
dimensions” (e.g., social reciprocity, communication disorders, and
Revised in 2010
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.

2009

Note: Dates that appear next to the objectives indicate the year that the objective was added to the Strategic
Plan. If the objective was revised in subsequent editions of the Plan, the revision date is also noted.

I A C C S t r a t e g i c P l a n f o r A S D R e s e a r c h | 15

Question 2: How Can I Understand What is Happening?

2. HOW CAN I UNDERSTAND WHAT IS
HAPPENING?
•

What is happening early in
development?

•

Are there known biological
differences that help explain ASD
symptoms?

•

Can subgroups of people with ASD
help us understand the etiology of
ASD symptoms?

WHAT DO WE KNOW?
Researchers, clinicians, and families have
long posed questions about the possible
biological bases of ASD. Clinicians classify
ASD as a developmental brain disorder
based on the behavioral features required
for diagnosis. Little evidence exists,
however, for a specific neurological
abnormality beyond reports of an
exuberant and transient pattern of brain
or head growth (Akshoomoff, Pierce &
Courchesne, 2002; Dawson et al., 2007;
Hazlett et al., 2005). While much of the
current science suggests that the
behavioral features of ASD result from
atypical brain structure, wiring, or
connections, there is no proven neural
variance associated with ASD.
Nevertheless, there are some promising
leads, and projects are under way that
have the potential to provide biological
signatures of some forms of ASD.

The development of sophisticated
imaging methods has enabled researchers
to accurately visualize many aspects of
brain structure and functioning. For
example, many children and adults with
ASD perceive and analyze the visual
information conveyed by facial

2011

expression differently than do other
people (Spezio et al., 2007). Other
researchers have employed magnetic
resonance imaging (MRI) methods to
investigate differences in brain anatomy
between people with and without ASD,
and have found differences in the density
of white and gray matter, in some cases
linked to specific symptoms of ASD (Craig
et al., 2007).

Subsets of people with ASD have been
reported to have experienced regression
(i.e., the loss of previously acquired
language, social, and developmental
skills). The phenomenon is poorly
understood and may co-occur with
medical conditions common to people
with ASD, such as epilepsy. Recent studies
have sought to understand the
relationship between regressive
symptoms, co-occurring disorders such as
epilepsy, and the etiology of ASD.
Regression is not unique to people with
ASD, and the loss of language skills (acute
language regression) can occur in people
without the disorder. In one study,
researchers found that children with
acute language regression (who did not
have ASD) were more likely to have
associated seizures or epilepsy than were
children with regressive autism (which
includes language regression, as well as
the loss of other social and developmental
skills). This suggests that there are
different subtypes of language regression
and may help to understand the
phenomenon and its relationship to ASD
(McVicar et al., 2005).
Currently, the frequency of language
regression is unknown in either children
with ASD or the general population.
Previous studies of regression have been

16 | I A C C S t r a t e g i c P l a n f o r A S D R e s e a r c h

Question 2: How Can I Understand What is Happening?

hampered by delayed referral for
evaluation after the onset of regressive
symptoms (McVicar et al., 2005).

A few hypotheses regarding how
disruptions of the immune system might
contribute to ASD and other
neurodevelopmental disorders have
emerged in recent years. Some recent
findings suggest that the immune system
differences of parents and their children
may affect early brain development and
the onset and fluctuation of symptoms in
some children with ASD (Pardo, Vargas &
Zimmerman, 2005). For example, some
research indicates that maternal
autoantibodies directed at fetal brain
tissue could interfere with normal brain
development (Braunschweig et al., 2008).
While such medical symptoms may not be
entirely specific to ASD, treating them
may have significant impact on quality of
life, symptom severity, and level of
functioning.

Better understanding of the biology of
genes linked to ASD and their functions
can also provide insight. Recent studies
have shown that the MECP2 gene
(mutations in which can cause Rett
syndrome) is involved in forming
connections at the synapse. Genes
regulated by the fragile X syndrome gene,
FMR1, also directly affect synapse
function by controlling signaling of the
neurotransmitter glutamate. In addition, a
2008 study found that the two genes that
cause tuberous sclerosis complex (TSC)
impair the formation of axons. Recently,
several groups reported remarkable
success with targeted therapies in animal
models of these disorders, showing the
ability to reverse the underlying
neuroanatomical and even behavioral
deficits in the adult (Dolen et al., 2007;

2011

Ehninger et al., 2008; Guy et al., 2007).
Understanding how MECP2, TS1, FMR1,
TSC1 and TS2/TSC2 regulate the growth
and function of neurons may help
scientists understand related disorders
such as autism.
WHAT DO WE NEED?

Exploring the biological bases of ASD
requires access to biospecimens of people
with and without ASD. Some progress has
been made to establish the necessary
infrastructure for the collection and
preservation of postmortem tissue from
people with ASD. Nevertheless, the
tissues currently available are insufficient
for the needs of researchers. Educational
campaigns, through contact with health
care providers and the internet, may be
useful to increase public awareness. New
technology is expanding biological
research beyond postmortem tissue. For
example, it is now possible to create
pluripotent stem cells from skin
fibroblasts of individual patients to create
neuronal cell lines for study.
One of the greatest barriers to progress in
determining the biological bases of ASD
has been the heterogeneity of the
spectrum. A clear need exists to advance
understanding of the many phenotypes of
ASD, including studies that link genotype
to phenotype, investigations of natural
and treated history, analyses of genetic
interaction with environmental
exposures, and studies of co-occurring
behavioral and medical conditions.
Different autism phenotypes may have
different etiologies. There is a need to
combine genotyping and functional
analysis to better understand the
contribution of specific genotypes with
functional or structural subtypes. To

I A C C S t r a t e g i c P l a n f o r A S D R e s e a r c h | 17

Question 2: How Can I Understand What is Happening?

determine the earliest discernable onset
of ASD, experts have expressed the need
for an intensive, multidisciplinary study
starting at early ages that examines
biomedical, neurodevelopmental, and
behavioral trajectories of children with
ASD. A parallel multidisciplinary analysis
of typically developing children and
children with non-ASD developmental
disorders would be especially
enlightening, as limited normative
information is currently available. An
evaluation of differences in the interplay
of biology and environmental exposures
for children with and without ASD is also
needed. Understanding early trajectories
may lead to targeted interventions aimed
at mitigating behavioral and medical
challenges and improving outcomes
through adulthood.

Another understudied arena of ASD
research is gender differences. Many
studies of autism preferentially enroll
males, who, due to a 4:1 increased
prevalence, are easier to recruit. Without
additional information about the
biological features of ASD in females, it
remains unclear whether the course of
ASD is similar and whether currently
used interventions are appropriate for
females. It is critical to determine how sex
is related to etiology, protective factors,
diagnosis, and trajectory. In addition,
many studies of autism preferentially
enroll higher-functioning individuals who
do not have cognitive impairment,
because of their ability to cooperate and
participate in study-related tasks.
However, these individuals represent
only a subset of all individuals with
autism, and lessons learned from them
may or may not be generalizable to all
individuals with ASD. Priority must be
made to develop studies looking at the

2011

underlying etiology of nonverbal
individuals and to understand the impact
of and etiology of co-occurring language
and cognitive impairment.
2011 ADDENDUM TO QUESTION 2:
HOW CAN I UNDERSTAND WHAT IS
HAPPENING?

WHAT IS NEW IN THIS RESEARCH AREA, AND
WHAT HAVE WE LEARNED THIS PAST YEAR?
Over the past year, a group of notable
studies advanced what is known about
the underlying biology of ASD with
respect to neuropathology, symptoms,
and cellular metabolism/signaling. In
recent years, researchers have noted
abnormalities in brain growth, structure,
and connectivity in ASD, and numerous
2010 studies strengthen the idea that the
brains of people with ASD develop and
connect in atypical ways (Anderson et al.,
2010; Groen et al., 2010; Lai et al., 2010,
Qiu et al., 2010; von dem Hagen et al.,
2010).

Researchers published results of the first
longitudinal study of early brain growth
in toddlers aged 1½ to 5 (Schumann et al.,
2010). They found evidence of cerebral
gray and white matter overgrowth in all
regions by age 2 ½. After correcting for
age and gender, they found that almost all
brain regions developed at an abnormal
rate in ASD and that this trend was more
pronounced in girls. Other studies
uncovered differences in the volume and
structure of the brain’s white matter, the
component of the brain that carries
signals from one region to another and
that allows communication between the
two hemispheres (Kumar et al., 2010;
Zikopoulos & Barbas, 2010). It was
recently discovered that such structural

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Question 2: How Can I Understand What is Happening?

abnormalities are found not only in
children with ASD, but their unaffected
siblings as well (Barnea-Goraly, Lotspeich
& Reiss, 2010). New advances in the use
of magnetic resonance imaging (MRI)
suggest that structural differences in the
cortex of the brain could be used as a
potential biomarker for ASD (Ecker,
2010).

Important research advances continue to
improve the understanding of how
changes in the brain might lead to unique
characteristics of ASD. Researchers have
recently found abnormalities in
underlying neural circuits linked to
characteristic traits such as atypical eye
gaze and difficulties processing visual
information, facial expressions, and
biological motion (Akechi et al., 2010;
Brieber et al., 2010; Dinstein et al., 2010;
Dziobek et al., 2010; Kikuchi et al., 2010;
Kliemann et al., 2010; Koh, Milne &
Dobkins, 2010; Loth, Gomez & Happe,
2010; New et al., 2010). A recent study of
biological motion perception suggests
that the distinct brain response in ASD
may provide a neural endophenotype for
the disorder (Kaiser et al., 2010a; Kaiser
et al., 2010b). Another notable study is
the first to identify a specific gene that
can be associated with a neural
endophenotype of ASD (Scott-van Zeeland
et al., 2010). Using brain imaging,
researchers found that variations in the
known risk gene CNTNAP2 are associated
with differences in functional connectivity
in the frontal cortex and can predict
performance on a rewards task.
In addition, the Committee has noted the
importance of a consensus report about
evaluation, diagnosis, and treatment of
gastrointestinal disorders in children
with ASD in the journal Pediatrics (Buie

2011

et al., 2010b). While the panel concluded
that it was too early to make evidencebased recommendations, the consensus
expert opinion was that people with ASD
deserve the same thoroughness and
standard of care in treating
gastrointestinal symptoms as all patients,
and that problem behaviors in ASD may
stem from gastrointestinal problems. Of
note, a study conducted in Minnesota
found that children with ASD did not
experience any greater frequency of
gastrointestinal symptoms than the
general population (Ibrahim et al., 2009).
The Committee has also discussed reports
of ASD symptoms diminishing during
periods of fever and noted that this
phenomenon, described in a 2009 review
article (Mehler & Purpura, 2009) and
discussed at a 2010 Simons Foundation
conference (Simons Foundation, 2010)
warrants further study.
Committee members have pointed to the
new focus on metabolic and immune
system interactions in ASD through
studies of immune molecules,
mitochondria, oxidative stress, and viral
infections. In 2010, a team of researchers
examined oxidative stress in Egyptian
children with autism (Mostafa, et al.,
2010). They found oxidative stress in
close to 90% of these children and that
this was related to an index of
autoimmunity. They suggest that
oxidative stress may play a role in
autoimmunity, and that this represents a
potential treatment target. In other
notable work, a literature review suggests
that extant energy metabolism deficits in
ASD are not systematically related to
specific genetic or genomic defects
(Palmieri & Persico, 2010).

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Question 2: How Can I Understand What is Happening?

Researchers also examined gray matter
from postmortem brains of individuals
with ASD and found increased levels of
oxidized mitochondrial proteins in more
than half of subjects that were related to
high calcium levels (Palmieri et al., 2010).
They concluded that interactions between
the mitochondrial aspartate/glutamate
carrier gene and altered calcium
homeostasis may play a role in autism.

Researchers are continuing to study how
neuroimmune abnormalities may be
associated with ASD. In a 2010 study,
researchers investigated activation in
microglia, cells that offer the first line of
immune defense in the central nervous
system. Marked activation was observed
in 5 of the 13 people with ASD included in
the study (Morgan et al., 2010). There is
also evidence that autoimmune factors
may play a role. A study of 690,000
Danish children found that those with
ASD were significantly more likely to have
families with a history of rheumatoid
arthritis, Type 1 diabetes, or celiac
disease (Atladóttir et al., 2009).
Another notable study in 2010 explored
how vertical viral transmission, or the
transmission of a virus from mother to
child just before or after birth, may play a
role in the development of ASD (Lintas et
al., 2010), and a study of urinary
porphyrin excretion found elevated levels
in children with ASD when compared to
their typically developing peers,
indicating a potentially unusual pattern of
metabolism (Woods et al., 2010). In
addition, recent progress has been made
in the development of mouse models of
autism (Silverman et al., 2010; Hamilton
et al., 2011). These studies and others
highlight the importance of continuing to
investigate multiple potential pathways

2011

and develop improved model systems to
better understand the complexity of ASD.

WHAT GAP AREAS HAVE EMERGED SINCE LAST
YEAR?
The Committee highlighted the newly
emerging area of metabolomics, which in
well-controlled studies may provide a
way to examine genotype-phenotype
relationships. The Committee also noted
the importance of staying abreast of
research from other fields that may be
helpful in identifying “endophenotypes”
in autism. Endophenotypes are
partial/constituent phenotypes that may
be more highly linked to specific genetic
causes, which may not be appreciated in
studies that combine all symptom
profiles. Endophenotypes may aggregate
in families and be amenable to deep
sequencing genetic studies to identify
genetic underpinnings. They also can be
common to multiple neurodevelopmental
disorders and offer leverage for
understanding similarities and
differences between different forms of
developmental psychopathology.

Public comment received by the
Committee in the past year points to the
need for continued study of regressive
autism and females with ASD. In addition,
new concerns were raised about the
relationship between ASD and epilepsy,
liver issues, and other diseases. The
relationship between inflammation in
expectant mothers and ASD, as well as the
association of ASD with apraxia of speech,
were also identified as potential issues for
further examination.
Several implementation-related issues
were raised by the Committee. These
include the need to add rapidly emerging

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Question 2: How Can I Understand What is Happening?

2011

findings related to cell metabolism,
signaling, neuroimaging, genetics,
epigenetics, and co-existing medical
conditions into existing databases
designed to phenotype the “autisms.”
Finally, the Committee emphasized the
urgent need to accelerate translation of
research findings to clinical practice.
WHAT PROGRESS IS BEING MADE IN
FULFILLING OBJECTIVES?

As exemplified by the progress in the
literature and funding as documented by
the 2009 IACC ASD Research Portfolio
Analysis, autism research is proceeding at
a brisk pace (IACC, 2010). There are many
promising studies of the neural correlates
of autism-related symptoms that have yet
to be classified.

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Question 2: How Can I Understand What is Happening?

2011

ASPIRATIONAL GOAL: DISCOVER HOW ASD AFFECTS DEVELOPMENT, WHICH WILL LEAD
TO TARGETED AND PERSONALIZED INTERVENTIONS.

RESEARCH OPPORTUNITIES
•

Multidisciplinary, longitudinal, biobehavioral studies of children, youths, and adults
beginning during infancy that characterize neurodevelopmental and medical
developmental trajectories across the multiple axes of ASD phenotype and identify ASD
risk factors, subgroups, co-occurring symptoms, and potential biological targets for
intervention. Such studies could include:

o High-risk siblings of children, youths, and adults with ASD, children without a family
history of ASD, and typically developing children; and

•
•
•
•
•
•

o Multidisciplinary assessments of brain imaging, metabolic and immunity markers,
microbiomics, metabolomics, electrophysiology, and behavior. (Revised 2011)

Research on females with ASD to better characterize clinical, biological, and protective
features.

Human and animal studies that examine immune, infectious, and environmental factors
in the occurrence of ASD.
Research on the unique strengths and abilities of people with ASD with evaluation of
functional and biological mechanisms behind social, linguistic, and cognitive profiles.
Research on individuals with ASD who are nonverbal and/or cognitively impaired.

Research targeting the underlying biology of co-occurring syndromes and co-occurring
conditions.
Prospective research on children with autistic regression, including potential
underlying genetic and other risk factors, such as seizures and epilepsy. (Revised 2011)

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SHORT-TERM OBJECTIVES

Question 2: How Can I Understand What is Happening?

2011

A. Support at least four research projects to identify mechanisms of fever,
metabolic and/or immune system interactions with the central nervous
Revised in 2011
system that may influence ASD during prenatal-postnatal life by 2010.
IACC Recommended Budget: $9,800,000 over 4 years. (Fever studies to be
started by 2012)

2009

B. Launch three studies that specifically focus on the neurodevelopment of
females with ASD, spanning basic to clinical research on sex differences
Revised in 2010
by 2011. IACC Recommended Budget: $8,900,000 over 5 years.

2009
2009
2010

C. Identify ways to increase awareness among the autism spectrum
community of the potential value of brain and tissue donation to further
basic research by 2011. IACC Recommended Budget: $1,400,000 over 2
years.

D. Launch three studies that target improved understanding of the
underlying biological pathways of genetic conditions related to autism
(e.g., fragile X, Rett syndrome, tuberous sclerosis complex) and how
these conditions inform risk assessment and individualized intervention
by 2012. IACC Recommended Budget: $9,000,000 over 5 years.

E. Launch three studies that target the underlying biological mechanisms of
co-occurring conditions with autism, including seizures/epilepsy, sleep
Revised in 2011
disorders, wandering/elopement behavior, and familial autoimmune
disorders, by 2012. IACC Recommended Budget: $9,000,000 over 5 years.

2010
2010
2010

F. Launch two studies that focus on prospective characterization of
children with reported regression to investigate potential risk factors by
2012. IACC Recommended Budget: $4,500,000 over 5 years.
G. Support five studies that associate specific genotypes with functional or
structural phenotypes, including behavioral and medical phenotypes
(e.g., nonverbal individuals with ASD and those with cognitive
impairments) by 2015. IACC Recommended Budget: $22,600,000 over 5
years.

Note: Dates that appear next to the objectives indicate the year that the objective was added to the Strategic
Plan. If the objective was revised in subsequent editions of the Plan, the revision date is also noted.

I A C C S t r a t e g i c P l a n f o r A S D R e s e a r c h | 23

LONG-TERM OBJECTIVES

2009

2010

Question 2: How Can I Understand What is Happening?

2011

A. Complete a large-scale, multidisciplinary, collaborative project that
longitudinally and comprehensively examines how the biological,
clinical, and developmental profiles of individuals, with a special
emphasis on females, youths, and adults with ASD, change over time as
compared to typically developing people by 2020. IACC Recommended
Budget: $126,200,000 over 12 years.
B. Launch at least three studies that evaluate the applicability of ASD
phenotype and/or biological signature findings for performing
diagnosis, risk assessment, or clinical intervention by 2015. IACC
Recommended Budget: $7,200,000 over 5 years.

Note: Dates that appear next to the objectives indicate the year that the objective was added to the Strategic
Plan. If the objective was revised in subsequent editions of the Plan, the revision date is also noted.

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Question 3: What Caused This to Happen and Can It Be Prevented?

3. WHAT CAUSED THIS TO HAPPEN
AND CAN IT BE PREVENTED?
•

Is there something in my genetic or
family history that poses a risk for
ASD?

•

What environmental exposures
pose risks for the development of
ASD?

•

How might genetics and the
environment interact to influence
the occurrence of ASD?

WHAT DO WE KNOW?
As with many complex disorders,
causation is generally thought to involve
some forms of genetic risk interacting
with some forms of non-genetic
environmental exposure. The balance of
genetic risk and environmental exposure
likely varies across the spectrum of ASD.
The greatly increased concordance of
strictly defined autism in monozygotic
(identical) twins (70 - 90%) compared to
dizygotic (fraternal) twins (0 - 10%)
argues for the importance of genetic
factors (Bailey et al., 1995; Steffenburg et
al., 1989). Moreover, there are
subpopulations of those diagnosed with
ASD who have a known genetic mutation,
often associated with a genetic disorder,
such as fragile X syndrome, Rett
syndrome, or tuberous sclerosis complex,
the understanding of which has led to
identification of possible pharmaceutical
interventions. In many cases, the same
genetic variation does not result in an
ASD phenotype, suggesting possible
genetic or environmental modifiers that
could be important intervention targets.
Using new technology that reveals gaps
and extra copies in DNA sequences,

2011

researchers have found that some people
with ASD have deletions and duplications
of genetic material not found in their
parents’ DNA (Sebat et al., 2007). Recent
genetics research has identified common
genetic variations (e.g., Wang et al., 2009;
Weiss et al., 2009), changes in
chromosomal structure in specific
genomic regions, (Marshall et al., 2008;
Kumar et al., 2008; Weiss et al., 2008) and
rare mutations in genes all associated
with synaptic connectivity (Alarçon et al.,
2008; Bakkaloglu et al., 2008; Durand et
al., 2007; Jamain et al., 2003; Laumonnier
et al., 2004; Strauss et al., 2006). Some of
these findings have contributed to new
hypotheses about the inheritance of ASD.
In families with just one affected member,
spontaneous deletions and duplications
may be causal factors of ASD. However,
what causes these spontaneous deletions
and duplications is not clear and could be
due to environmental exposures.

Taken together, rare genetic mutations,
chromosomal abnormalities, and submicroscopic deletions and duplications of
genetic material are involved in at least
10% of ASD cases, yet individually each
abnormality is found in no more than
about 1 to 2% of cases (Abrahams &
Geschwind, 2008). Since common genetic
variations confer only a modest increase
in risk, this suggests that the genetic
factors in ASD may involve many different
genes and interactions between genes
and environment. Possible models
include: many additional rare genetic
mutations to be discovered; multiple
common genetic variations each
conferring a small increased risk; and
many forms of ASD with different genetic
contributions, both common and rare, in
the population. There is growing
recognition that the same genetic

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Question 3: What Caused This to Happen and Can It Be Prevented?

contributions can lead to a wide variety of
different phenotypes across individuals.
As one good example, deletions and
duplications in chromosomal region
16p11 have been associated with a broad
range of phenotypes, including disorders
outside the autism spectrum. The factors
responsible for this variability in disease
phenotypes remain to be defined.

Researchers are working to better
understand the interaction of genetic
vulnerability with developmental
experiences, such as a specific
environmental exposure. While geneenvironment interactions have been
hypothesized to play a role in many
medical disorders, these interactions have
been difficult to prove or disprove beyond
statistical tests showing that some genetic
subgroups have a greater response to
some environmental factors. Epigenetics
is one mechanism by which it is thought
that environmental factors may be
influencing gene expression, and now
molecular tools are allowing researchers
to gain insight into epigenetic phenomena
that may be contributing to a variety of
disorders, including ASD (Baccarelli &
Bollati, 2009; Nagarajan et al., 2008).
While genetics maps the sequence of
DNA, epigenetics maps the modifications
of the structure of DNA due to proteins or
other factors that bind to the DNA helix.
DNA is essentially linear text that gets
“read” into RNA that in turn codes for
proteins. Epigenetic modifications do not
change the text, but they highlight or
redact large sections of text, changing
how it is read. Epigenetic modifications
consist of biochemical “tags” that attach
to the DNA in different places, leading to
the “silencing” or “activation” of genes.
The pattern of epigenetic silencing or

2011

activation of genes can differ between
genders, between species or between
generations, and can change during
specific time windows in development or
in response to environmental cues. It is
thought that the addition or removal of
epigenetic tags from DNA is one
mechanism by which developmental
experience (e.g., exposure to physical or
emotional stimuli) can cause long-term
biological and behavioral effects. In 2009,
the first maps of the human epigenome
provided the first comprehensive look at
where and how nature and nurture may
interact (Lister et al., 2009).

Progress in identifying environmental
factors that increase autism risk has been
made recently (Eskenazi et al., 2007;
Palmer et al., 2006; Palmer, Blanchard &
Wood, 2009; Rauh et al., 2006; Roberts et
al., 2007; Windham et al., 2006), although
this area of research has received less
scientific attention and far fewer research
dollars than genetic risk factors.
Environmental factors may be pertinent
not only to brain development, but also to
chronic systemic features of at least some
subgroups of ASD. An Institute of
Medicine (IOM) workshop held in 2007
summarized what is known and what is
needed in this field (Forum on
Neuroscience and Nervous System
Disorders, Institute of Medicine, 2008).
Numerous epidemiological studies have
found no relationship between ASD and
vaccines containing the mercury based
preservative thimerosal (Immunization
Safety Review Committee, 2004). These
data, as well as subsequent research,
indicate that the link between autism and
vaccines is unsupported by the
epidemiological research literature.
However, the IOM report acknowledged
that the existing population-based studies

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Question 3: What Caused This to Happen and Can It Be Prevented?

were limited in their ability to detect
small susceptible subpopulations that
could be more genetically vulnerable to
environmental exposures.

Of note, the Committee receives many
public comments that reflect concerns
about vaccines as a potential
environmental factor in autism. Some
members of the public are convinced that
the current data are sufficient to
demonstrate that vaccines do not play a
causal role in autism and argue against
using limited autism research funds to do
additional vaccine studies when many
other scientific avenues remain to be
explored. At the same time, those who
believe that prior studies of the possible
role of vaccines in ASD have been
insufficient argue that investigation of a
possible vaccine/ASD link should be a
high priority for research (e.g., a largescale study comparing vaccinated and
unvaccinated groups). A third view urges
shifting focus away from vaccines and
onto much-needed attention toward the
development of effective treatments,
services, and supports for those with ASD.
In addition, a number of other
environmental factors are being explored
through research because they are known
or suspected to influence early
development of the brain and nervous
system. Recent studies suggest that
factors such as parental age and exposure
to infections, toxins, and other biological
agents may confer environmental risk.
These findings require further
investigation and testing, some of which
is ongoing through the CDC’s Centers for
Autism and Developmental Disabilities
Research and Epidemiology (CADDRE)
and Study to Explore Early Development
(SEED) programs, as well as through

2011

several NIH-funded studies, including the
Norwegian Autism Birth Cohort (ABC)
study, the Childhood Autism Risks from
Genetics and the Environment (CHARGE)
study, the Early Autism Risk Longitudinal
Investigation (EARLI) study, and the
Centers for Children’s Environmental
Health and Disease Prevention, which is
supported collaboratively by the National
Institute of Environmental Health
Sciences (NIEHS) and the Environmental
Protection Agency (EPA).
WHAT DO WE NEED?

Although most scientists believe that risk
factors for ASD are both genetic and
environmental, there is considerable
debate about whether potential
environmental causes, genetic precursors,
or interactions between genes and
environmental factors should be the
highest priority for research aimed at
identifying the causes of ASD. To date, few
studies have ruled in or ruled out specific
environmental factors. There are reports
of associations of ASD with exposure to
medications, maternal antibodies,
toxicants, and infections prenatally or
postnatally; however, these observations
need to be the subject of additional study.
It is still not known whether any specific
factor is necessary or sufficient to cause
ASD. Similar to other disease areas,
advancing research on the potential role
of environmental factors requires
resources and the attraction of scientific
expertise. Bringing this to bear on autism
will help define the environmental factors
to study, as well as the best approach for
staging studies to examine environmental
factors, interaction between factors, and
between individual susceptibility and
various environmental factors.

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Question 3: What Caused This to Happen and Can It Be Prevented?

For example, some researchers believe
that it is important to study a large
number of exposures, or classes of
exposure, that are known to affect brain
development. Others support more tightly
focused studies of one exposure or a
limited number of exposures, with
greatest biologic plausibility for
interacting with known or suspected
biologic or genetic ASD risk factors. In
addition, it is also important to design
studies that assess environmental
exposure during the most relevant
exposure windows: pregnancy and early
development. In doing this research, it
will be important for the field to develop
sound standards for identifying and
claiming that environmental factors
contribute to ASD, as it is for genetics.
Research studies on risk factors can be
pursued through several means. Smaller,
focused studies are needed for hypothesis
testing and to provide insight for
replication studies. Similar to other health
outcomes research for relatively rare
conditions, case-control studies can be an
effective first line of inquiry. The NIHsupported CHARGE and CDC-supported
CADDRE/SEED studies are good examples
of this approach, in which environmental
exposures and biological pathways, along
with genetics, are being examined. Other
existing cohorts could also be identified
and used for epigenomic as well as
traditional genomic and environmental
studies.
To address public concerns regarding a
possible vaccine/ASD link, it will be
important for the IACC to continue to
coordinate with the National Vaccine
Advisory Committee (NVAC), a Federal
advisory committee chartered to advise

2011

and make recommendations regarding
the National Vaccine Program.

Epigenomics provides a ready mechanism
for understanding how genes and
environment may act jointly to affect
autism risk. Studies are needed to
investigate whether candidate
environmental exposures alter epigenetic
mechanisms that modify the expression
of suspected autism susceptibility genes
or genomic regions. Such studies should
incorporate examination of time or stage
of development as an important factor
determining the impact of environmental
agents on epigenetic programming.
Finally, studies are needed to understand
how changes in epigenetic tags in
response to environmental stimuli could
lead to specific phenotypic characteristics
associated with autism.

Another approach for studying risk
factors for ASD requires large sample
sizes to disentangle the many possible
genetic and environmental factors that
contribute to and help explain ASD and
the frequently co-occurring conditions.
For other complex disorders, large DNA
collections (i.e., >20,000 samples) have
been necessary to detect the full genetic
risk architecture. There are no genetic
repositories of this size for ASD. Similarly,
large birth cohort studies, in which
biological samples have been collected
throughout pregnancy and early
postnatal life, may be essential for
detecting the interplay of environmental
exposures and genetic factors that lead to
ASD. As a complement to these large-scale
studies, research on critical
subpopulations that may be at higher risk
could provide leverage in identifying
genetic and environmental risk factors.

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Question 3: What Caused This to Happen and Can It Be Prevented?

2011 ADDENDUM TO QUESTION 3:
WHAT CAUSED THIS TO HAPPEN AND
CAN IT BE PREVENTED?

WHAT IS NEW IN THIS RESEARCH AREA, AND
WHAT HAVE WE LEARNED THIS PAST YEAR?
A variety of discoveries have advanced
knowledge of the biological
underpinnings of autism. It was
previously found that, among individuals
with ASD, copy number variants, which
are submicroscopic deletions and
duplications in the genome occur more
frequently in areas containing ASD risk
genes (Cook & Scherer, 2008; Sebat et al.,
2007; Weiss et al., 2008). A 2010 study
showed that some of these copy number
variants involved genes previously found
to be associated with autism and some
involved new rare mutations (Pinto et al.,
2010). In addition, it was reported that
neurodevelopmental disorders are more
common in infants born prematurely and
that preterm infants are at increased risk
of developing autism (Johnson et al.,
2010b). A study of blood mercury levels
in 452 children in the NIH-funded
Childhood Autism Risk from Genetics and
the Environment (CHARGE) study
showed that total mercury in blood was
neither elevated nor reduced in preschool
children with ASD (Hertz-Picciotto et al.,
2010). In a separate study, no link was
found between the exposure to
thimerosal, a mercury-containing
preservative used in vaccines, and
increased risk for ASD (Price et al., 2010).
New data based on the Autism Speaks–
supported Autism Treatment Network
(ATN) patient registry and studies of
high-risk infants indicate that autism is
associated with high rates of several
medical conditions, including

2011

gastrointestinal dysfunction, sleep
disturbance, psychiatric conditions, and
seizures (Presentation to IACC on the
Autism Treatment Network, 2010). These
co-occurring conditions are poorly
studied, yet investigating them may
reveal unexpected clues to environmental
risk factors. For example, nonmotor
features associated with Parkinson’s
disease (e.g., gastrointestinal problems,
olfactory deficits, autonomic
abnormalities) have yielded information
about Parkinson’s disease etiology and
can serve as harbingers of the condition
(Tolosa et al., 2009).

On September 8, 2010, NIEHS and Autism
Speaks co-sponsored a meeting of
scientists from both inside and outside
the field of autism to identify novel
opportunities and mechanisms to
accelerate research on environmental
factors and autism (Agenda from Autism
and the Environment Workshop, 2010).
Environmental factors considered
included all factors affecting health that
are external to the individual (such as
physical, biological, chemical, dietary,
social, and cultural), as well as the nongenetic characteristics of an individual
(such as age, nutritional status, physical
functioning, and medical history). As
noted during the meeting, understanding
environmental influences to autism will
require both agnostic, discovery-based
science as well as hypothesis-driven
science in parallel. The set of
recommendations developed from the
meeting cite the need for strong
interdisciplinary teams to move findings
back and forth from clinical and
epidemiologic settings to mechanistic
studies. Research needs and
opportunities identified included
expansion of epidemiology investigations

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Question 3: What Caused This to Happen and Can It Be Prevented?

to capitalize on existing resources,
development of a range of model systems
that can address the complexity of autism,
exploration of bioinformatics and
screening approaches to identify
environmental chemicals of interest,
increased emphasis on neuropathology,
enhancement of capacity for
measurement of environmental
compounds, harmonization of exposure
assessment instruments, and mechanisms
for expanding the workforce.
Technical advances in the past year
increase traction for finding genetic and
environmental risk factors. Novel
bioinformatics platforms can be used to
map genes to specific signaling pathways
and to explore what environmental
exposures are most likely to influence
those pathways. Toxicogenomics data
such as those produced by the EPA’s
National Center for Computational
Toxicology could be mined to determine
which environmental compounds act on
the genes of interest. An important
finding this year revealed the extent of
“parent of origin” effects—i.e., for many
genetic variations, risk depends on
whether this variation was inherited from
the maternal or paternal genome. And
recent studies have revealed the
importance of epigenetic mechanisms in
disease etiology, bringing together
genetic and environmental factors for the
first time.

Information on the utility of induced
pluripotent stem (iPS) cells and
mesenchymal stem cells for exploring the
biological bases of ASD is rapidly
developing, pointing to the opportunity to
use these tools as molecular assays for
understanding genetic variation as well as
for translational toxicology. Although

2011

research this year revealed several
differences between these iPS cells, which
can be easily and non-invasively derived
from a person’s skin cells, and embryonic
stem cells, iPS cells continue to be one of
the most promising new frontiers for
understanding risk for ASD.
In a 2009 report by the National Vaccine
Advisory Committee (NVAC), it was
recommended that, in the context of
immunization research, the ASD clinical
subset of particular interest is regressive
autism (National Vaccine Advisory
Committee, 2009). Although the NVAC
stressed that the temporal occurrence of
this regression and the immunization
schedule is not evidence of a causal
relationship, regressive autism warrants
further research in rigorously defined
subsets of ASD. The NVAC noted that
studies in this subpopulation might
involve comparison of immune cytokine
profiles between regressive and nonregressive ASD to screen for differential
immune system profiles, or prospective
immunization responsive profiling in
siblings of children with regressive ASD.
In addition, the NVAC recommended that
studies assess whether adverse events
following immunization (e.g., fever and
seizures) correlate with risk of ASD, and
that immune response profiles be
examined in ASD cases with a history of
adverse events following immunization.

The 2009 IACC ASD Research Portfolio
Analysis indicated that about one-third of
autism research studies funded by the
Federal government and private
organizations corresponded to risk
factors/Strategic Plan Question 3, with
the majority of this funding directed
toward the identification of genetic risk
factors and less funding and attention

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Question 3: What Caused This to Happen and Can It Be Prevented?

toward environmental research (IACC,
2010). This analysis suggests that
environmental research is an
understudied area that has been given
insufficient attention and requires a
heightened priority. Based on this, the
Committee made several specific
recommendations for research objectives
and needed resources, which are reflected
in the new objectives added to the Plan in
2011.
WHAT GAP AREAS HAVE EMERGED SINCE LAST
YEAR?

Suitable model systems and those that
offer better high-throughput capabilities
for the study of environmental risk
factors and their interaction with genetic
susceptibility are needed. For example,
models such as Drosophila melanogaster
(fruit flies) and Danio rerio (zebrafish)
have been extremely useful in identifying
environmental contributors to other
conditions, such as Parkinson’s and
Alzheimer’s disease. The genetics and
biology of synapse formation and function
are increasingly well understood,
underscoring the potential utility of
vertebrate and invertebrate models for
exploring how environmental exposure
can affect brain function at the cellular
and molecular levels.
Expansion and integration of
epidemiological studies using different
designs and types of data are needed.
Combining data from multiple studies will
be necessary to enhance statistical power,
requiring standardization of protocols,
instrument development, and data
harmonization methods. This should also
include standardized protocols on
biological specimen collection, storage,
and analysis. International studies offer

2011

unique opportunities to examine
populations with different genetic and
environmental exposure backgrounds. It
would be helpful to create an autism
“atlas” to examine differences in autism
prevalence as a function of geography.
Such analysis has proved useful in both
cancer and asthma research.

There is a need for greater collaboration
between genetic and environmental
science investigators. Studies collecting
genetic information should include data
on environmental exposures and vice
versa; large data sets are needed to allow
mapping of detailed genetic, environment,
and phenotypic information, including cooccurring medical conditions,
inflammatory markers, pattern of onset,
developmental course, and family history.
To accelerate our understanding of the
role of epigenetics in autism etiology,
further development and application of
sensitive assays to measure DNA
methylation, histone modification, and
other epigenetic marks are needed.
Studies are also needed to examine how
exposures may act on maternal or
paternal genomes via epigenetic
mechanisms to influence risk for ASD.

The lack of adequate postmortem brain
tissue continues to be a major barrier to
progress in understanding the
neurobiology of ASD, including the
potential influence of environmental
factors on the functional pathways
involved in ASD.

Efforts to increase analytical capacity and
core facilities are needed. For example,
adding an environmental, immune, or
animal models core to an already existing
multidisciplinary team that studies

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Question 3: What Caused This to Happen and Can It Be Prevented?

autism would be beneficial. Access to
these core facilities and services could
encourage individual scientists to expand
the scope of their studies to address
environmental hypotheses.

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2011

Question 3: What Caused This to Happen and Can It Be Prevented?

2011

ASPIRATIONAL GOAL:
CAUSES OF ASD WILL BE DISCOVERED THAT INFORM PROGNOSIS AND TREATMENTS
AND LEAD TO PREVENTION/PREEMPTION OF THE CHALLENGES AND DISABILITIES OF
ASD.

RESEARCH OPPORTUNITIES
•
•
•
•
•

•
•

•
•

•

•
•
•

Genetic and epigenetic variations in ASD and the symptom profiles associated with
these variations.
Environmental influences in ASD and the symptom profiles associated with these
influences.
Family studies of the broader autism phenotype that can inform and define the
heritability of ASD.

Studies in simplex families that inform and define de novo genetic differences and focus
on what role the environment might play in inducing these differences.

Standardized methods for collecting and storing biospecimen resources from wellcharacterized people with ASD as well as a comparison group for use in biologic,
environmental, and genetic studies of ASD.

Case-control studies of unique subpopulations of people with ASD that identify novel
risk factors.

Monitor the scientific literature regarding possible associations of vaccines and other
environmental factors (e.g., ultrasound, pesticides, pollutants) with ASD to identify
emerging opportunities for research and indicated studies.
Better understanding environmental and biological risk factors during prenatal and
early postnatal development in “at risk” samples.

Cross-disciplinary collaborative efforts to identify and analyze biological mechanisms
that underlie the interplay of genetic and environmental factors relevant to the risk and
development of ASD, including co-occurring conditions.

Convene ASD researchers on a regular basis to develop strategies and approaches for
improving data standards and sharing, understanding gene-environment interactions,
improving the speed of replication of findings, and enhancing the translation of
research on potential causative factors to prevention and treatment studies.

Measures of key exposures for use in population- and clinic-based studies and
standards for sample collection, storage, and analysis of biological materials.

Studies of behavioral, developmental, and medical variations across those with ASD
who share common genetic factors.
Studies of clinically meaningful subgroups to examine common genetic and
environmental factors, as well as unique epigenomic signatures.

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2011

SHORT-TERM OBJECTIVES

A. Coordinate and implement the inclusion of approximately 20,000
subjects for genome-wide association studies, as well as a sample of
Revised in 2010
1,200 for sequencing studies to examine more than 50 candidate genes
by 2011. Studies should investigate factors contributing to phenotypic
variation across individuals who share an identified genetic variant and
stratify subjects according to behavioral, cognitive, and clinical features.
IACC Recommended Budget: $43,700,000 over 4 years.

2009

2009
2009
2009
2010
2011

2011

B. Within the highest-priority categories of exposures for ASD, identify and
standardize at least three measures for identifying markers of
environmental exposure in biospecimens by 2011. IACC Recommended
Budget: $3,500,000 over 3 years.
C. Initiate efforts to expand existing large case-control and other studies to
enhance capabilities for targeted gene-environment research by 2011.
IACC Recommended Budget: $27,800,000 over 5 years.
D. Enhance existing case-control studies to enroll racially and ethnically
diverse populations affected by ASD by 2011. IACC Recommended
Budget: $3,300,000 over 5 years.

E. Support at least two studies to determine if there are subpopulations
that are more susceptible to environmental exposures (e.g., immune
challenges related to infections, vaccinations, or underlying autoimmune
problems) by 2012. IACC Recommended Budget: $8,000,000 over 2 years.
F. Initiate studies on at least 10 environmental factors identified in the
recommendations from the 2007 IOM report “Autism and the
Environment: Challenges and Opportunities for Research” as potential
causes of ASD by 2012. IACC Recommended Budget: $56,000,000 over 2
years.
G. Convene a workshop that explores the usefulness of bioinformatic
approaches to identify environmental risks for ASD by 2011. IACC
Recommended Budget: $35,000 over 1 year.

Note: Dates that appear next to the objectives indicate the year that the objective was added to the Strategic
Plan. If the objective was revised in subsequent editions of the Plan, the revision date is also noted.

34 | I A C C S t r a t e g i c P l a n f o r A S D R e s e a r c h

Question 3: What Caused This to Happen and Can It Be Prevented?

2011

SHORT-TERM OBJECTIVES

2011

H. Support at least three studies of special populations or use existing
databases to inform our understanding of environmental risk factors for
ASD in pregnancy and the early postnatal period by 2012. Such studies
could include:
o Comparisons of populations differing in geography, gender, ethnic
background, exposure history (e.g., prematurity, maternal infection,
nutritional deficiencies, toxins), and migration patterns; and

o Comparisons of phenotype (e.g., cytokine profiles), in children with
and without a history of autistic regression, adverse events following
immunization (such as fever and seizures), and mitochondrial
impairment. These studies may also include comparisons of
phenotype between children with regressive ASD and their siblings.

2011
2011

2011

Emphasis on environmental factors that influence prenatal and early
postnatal development is particularly of high priority. Epidemiological
studies should pay special attention to include racially and ethnically
diverse populations. IACC Recommended Budget: $12,000,000 over 5
years.

I. Support at least two studies that examine potential differences in the
microbiome of individuals with ASD versus comparison groups by 2012.
IACC Recommended Budget: $1,000,000 over 2 years.
J. Support at least three studies that focus on the role of epigenetics in the
etiology of ASD, including studies that include assays to measure DNA
methylations and histone modifications and those exploring how
exposures may act on maternal or paternal genomes via epigenetic
mechanisms to alter gene expression, by 2012. IACC Recommended
Budget: $20,000,000 over 5 years.

K. Support two studies and a workshop that facilitate the development of
vertebrate and invertebrate model systems for the exploration of
environmental risks and their interaction with gender and genetic
susceptibilities for ASD by 2012. IACC Recommended Budget: $1,535,000
over 3 years.

Note: Dates that appear next to the objectives indicate the year that the objective was added to the Strategic
Plan. If the objective was revised in subsequent editions of the Plan, the revision date is also noted.

I A C C S t r a t e g i c P l a n f o r A S D R e s e a r c h | 35

Question 3: What Caused This to Happen and Can It Be Prevented?

2011

LONG-TERM OBJECTIVES

2009
2009
2009
2009

A. Conduct a multi-site study of the subsequent pregnancies of 1,000
women with a child with ASD to assess the impact of environmental
factors in a period most relevant to the progression of ASD by 2014.
IACC Recommended Budget: $11,100,000 over 5 years.

B. Identify genetic risk factors in at least 50% of people with ASD by 2014.
IACC Recommended Budget: $33,900,000 over 6 years.

C. Determine the effect of at least five environmental factors on the risk for
subtypes of ASD in the prenatal and early postnatal period of
development by 2015. IACC Recommended Budget: $25,100,000 over 7
years.
D. Support ancillary studies within one or more large-scale, populationbased surveillance and epidemiological studies, including U.S.
populations, to collect data on environmental factors during
preconception, and during prenatal and early postnatal development, as
well as genetic data, that could be pooled (as needed) to analyze targets
for potential gene/environment interactions by 2015. IACC
Recommended Budget: $44,400,000 over 5 years.

Note: Dates that appear next to the objectives indicate the year that the objective was added to the Strategic
Plan. If the objective was revised in subsequent editions of the Plan, the revision date is also noted.

36 | I A C C S t r a t e g i c P l a n f o r A S D R e s e a r c h

Question 4: Which Treatments and Interventions Will Help?

4. WHICH TREATMENTS AND
INTERVENTIONS WILL HELP?
•

When should treatments or
interventions be started?

•

What are the medical issues I need
to know about?

•

How do I know that treatments are
both safe and effective?

WHAT DO WE KNOW?
Although autism is defined and diagnosed
by deficits in core behaviors,
accumulating evidence suggests that the
breadth of this disorder extends well
beyond the behavioral diagnosis. There is
increasing recognition that the multiple
systemic issues in children with ASD may
influence vulnerability, onset, and
severity of symptoms and behaviors. The
systemic component of autism supports
the possibility that both the core
behaviors and medical issues have a
convergent mechanistic basis that, if
identified, could provide new insights into
treatment targets, candidate genes, and
strategies for prevention.
A wide range of treatment and
intervention options are available for
children and adults with ASD that can
target core symptoms, ameliorate
associated symptoms, and prevent
further disability. For example,
interventions such as speech therapy
facilitate language development,
pragmatic communication, and social
interaction. Occupational therapy can
improve functioning in everyday
activities (e.g., eating, bathing, and
learning) as well as sensory integration.
Both types of therapy can promote the

2011

development of life skills, which help
people with ASD to gain more
independence. People with ASD can
benefit from adaptive technologies, such
as the use of keyboards and computers
that promote expressive communication
skills, and visual representation tools
such as the Picture Exchange
Communication System (PECS) that assist
those with little or no language to
communicate more effectively. For
preschool and school-age children, public
school systems and private schools can
provide essential interventions including
curricula that are individualized to the
child, testing for cognitive and academic
strengths and weaknesses, and special
education services with lower teacher-tostudent ratios, to name a few. For all of
these interventions, there is a range of
improvement, with some people making
profound gains and others showing little
response. We do not know how to predict
which people will benefit from any of the
available treatments.

Of the numerous behavioral interventions
currently in use, little scientific evidence
from randomized controlled trials (RCTs)
supports their efficacy. Behavioral
therapies, such as applied behavior
analysis (ABA) based therapies, which use
the principles of reinforcement and
repetition, have been used since the
1960s and have been studied most
extensively. Controlled trials have shown
ABA to be effective for improving social
skills and language when provided for at
least 25 to 40 hours per week for 2 years
(Lord & McGee, 2001). Efficacy is greatest
when behavioral interventions are used
early, but improved skills have been
reported with adolescents and adults
(McClannahan, MacDuff & Krantz, 2002;
Weiss & Harris, 2001).

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Question 4: Which Treatments and Interventions Will Help?

Medications to improve some of the
symptoms associated with autism have
been studied. However, thus far, no
medication has been shown in controlled
trials to enhance social behavior or
communication. In 2006, risperidone
became the first Food and Drug
Administration (FDA) approved
pharmacologic therapy for certain
symptoms of autism. First introduced in
1993 as a medication used to treat
symptoms of schizophrenia, risperidone
has now been shown to be effective as a
treatment of irritability and aggression
seen in some children with ASD
(McDougle et al., 2005). Selective
serotonin reuptake inhibitors have had
mixed results in decreasing certain
repetitive and stereotyped behaviors
(Kolevzon, Mathewson & Hollander,
2006; King et al., 2009). Other biological
and pharmacological treatments that
have been investigated in small studies
and may warrant fuller attention include
omega-3 fatty acids, memantine, oxytocin,
and pioglitazone (Amminger et al., 2007;
Chez et al., 2007; Hollander et al., 2007;
Boris et al., 2007).
There are other treatments in wide use
that have not been studied in randomized
controlled trials. These include
nutritional supplements and diets (e.g.,
probiotics, mitochondrial cocktails,
CoQ10, carnitine, and gluten-casein free
diets), and chelation. One such treatment,
the neuropeptide secretin, that had been
reported to improve symptoms of ASD,
was studied in a placebo-controlled trial
and found to be ineffective (Esch & Carr,
2004). Some parents and therapists
suggest that these treatments are
effective, that recovery is possible, and
that further studies are needed. Others
are concerned that these treatments

2011

involve more than minimal risks and urge
caution before recommending large-scale
studies.
WHAT DO WE NEED?

Safe and effective interventions are
needed across the lifespan, from early
development shortly after the detection
of risk or diagnosis through childhood,
school age, adolescent, adult, and senior
phases of life. Going forward, research
needs to be balanced between two poles.
On the one hand, there is a need for novel,
targeted interventions based on an
understanding of the molecular
mechanisms of ASD. These interventions,
analogous to ongoing efforts in cancer
and cardiovascular research, will require
a successful commitment to earlier
elements of this Strategic Plan. On the
other hand, there is a need for rigorous
studies to develop and safely test the
efficacy of current interventions,
identifying which elements are most
effective in reducing or ameliorating
symptoms for which people. Intervention
research should collect information about
the mode of delivery, intensity, duration,
and dose, as well as unique
characteristics of the people with ASD
(e.g., behavioral, biological, genetic) in an
effort to develop more personalized
interventions, treatments, services, and
supports, and to help inform basic
research about additional targets for
study. This research will require largescale multidisciplinary randomized
controlled trials.
The identification of biomarkers—for
instance in plasma, saliva, cerebrospinal
fluid (CSF), or tissue—is necessary to
provide insights into targeted treatment
strategies designed to improve or reverse

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Question 4: Which Treatments and Interventions Will Help?

autistic symptoms, as well as insights into
preventive measures. Further, if
biomarkers present in children with ASD
are found to be present in infants and
toddlers at high risk of developing autism,
then targeted intervention strategies to
normalize these biomarkers could be
tested for the potential to arrest or
reverse the symptoms and progression of
autism.
Decision makers (people with ASD,
families, clinicians, and payors)
frequently lack critical information about
which treatment is best for an individual
person. While there are many
interventions in wide use, the field lacks
comparative studies of their value or how
these various interventions should be
staged or combined. Comparative
effectiveness research yields information
from head-to-head comparisons of
interventions or policies that, when
combined with a personalized approach,
can inform decision makers about health
care choices. This approach, already
helpful for cardiovascular and cancer
research, needs to be developed to inform
ASD interventions.

Special attention is needed on treatment
of co-occurring medical conditions,
developing pharmacological treatments,
and testing interventions that are in wide
use (e.g., nutritional supplements), but for
which little rigorous efficacy data exist
(Levy & Hyman, 2003). Co-occurring
conditions, such as gastrointestinal
symptoms and sleep disorders, may
influence the effectiveness of
interventions designed to affect the core
symptoms of ASD. Similarly, interventions
that focus on co-occurring conditions may
also affect or reduce core symptoms.
Animal models and/or cell lines relevant

2011

to autism are needed to develop new or
test existing pharmacological agents for
ASD, understand the mechanisms of
action, and serve as a first-step in testing
drug safety. Such model systems research
may be crucial in leveraging the
pharmaceutical industry to develop
medications that target the core
symptoms of ASD.

While some people with ASD have been
reported to show marked improvement,
little is known about the characteristics of
these people or the types of interventions
they have received that may help to
explain these changes. Studies of these
people may provide an opportunity for
discovering important clues with regard
to risk factors and intervention strategies
for specific ASD subgroups.
2011 ADDENDUM TO QUESTION 4:
WHICH TREATMENTS AND
INTERVENTIONS WILL HELP?

WHAT IS NEW IN THIS RESEARCH AREA, AND
WHAT HAVE WE LEARNED THIS PAST YEAR?
Several notable studies and reviews on
the efficacy of specific interventions for
improving outcomes of individuals with
ASD were published in 2010. These
include a study showing that medications
such as risperidone are most effective for
reducing irritability and aggression when
they are combined with intensive
behavioral intervention (Frazier et al.,
2010). A study of psychotropic
medication use over time in youth and
adults with ASD showed an increasingly
high likelihood of staying medicated
across the life course (Esbensen et al.,
2009).

I A C C S t r a t e g i c P l a n f o r A S D R e s e a r c h | 39

Question 4: Which Treatments and Interventions Will Help?

Recent research also supports the
benefits of social skills training for people
with ASD. A 2010 study showed improved
levels of social interaction and peer
relationships (Frankel et al., 2010), while
a randomized controlled trial (RCT)
evaluating a social skills group
intervention found improvements in
social behavior for children with ASD who
had high cognitive ability (Derosier et al.,
2010).
In other notable work conducted in 2010,
a systematic review concluded that
modified cognitive behavioral
interventions are efficacious for reducing
anxiety in individuals with Asperger
syndrome (Lang et al., 2010). In addition,
a RCT of a caregiver-mediated joint
engagement intervention for toddlers
showed positive results; it represents the
first controlled data to suggest that shortterm parent-mediated intervention can
be efficacious for improving joint
attention and functional play acts with
maintenance of skills one year postintervention (Kasari et al., 2010).

An environmental scan study, supported
by the Centers for Medicare & Medicaid
Services (CMS), examined interventions
for children, youth, and adults with ASD
(Young et al., 2010). The scan included
services addressing the core impairments
associated with ASD, as well as other
support services, such as behavioral
interventions, peer training, and
supported employment. For children, 15
interventions met the “evidence-based”
criteria established, while the other 16
interventions studied met only the
criteria for emerging or unestablished
interventions. Far less evidence was
available on services and supports for
transitioning youth and adults,

2011

underscoring the need for more research
in this area.

In the area of early behavioral
interventions, a randomized controlled
trial demonstrated the efficacy of a
comprehensive early intensive behavioral
intervention, based on the Early Start
Denver Model, which integrates
developmental approaches with
principles of applied behavioral analysis
(ABA) for improving IQ, language, and
adaptive behavior and reducing severity
of autism diagnosis in toddlers with ASD
(Dawson et al., 2010). In addition, three
reviews of the effectiveness of early
intensive behavioral intervention based
on ABA were published. The Institute of
Education Sciences reviewed findings
specific to the Lovaas model of ABA,
concluding that this model has been
shown to have potentially positive effects
on cognitive development but had no
discernable effect on
communication/language competencies,
social-emotional development and
behavior, or functional abilities (Institute
of Education Sciences, 2010). In the
Annual Review of Clinical Psychology,
Vismara and Rogers (2010) concluded
that both comprehensive and targeted
early intervention programs based on
ABA are effective for improving
communication, social skills, and
management of behavioral challenges.
Finally, results of a meta-analysis showed
that long-term, comprehensive ABA
interventions for children with ASD lead
to medium to large positive effects in
intellectual functioning, language
development, acquisition of daily living
skills, and social functioning (ViruesOrtega, 2010). Effects for languagerelated outcomes (e.g., IQ, receptive and

40 | I A C C S t r a t e g i c P l a n f o r A S D R e s e a r c h

Question 4: Which Treatments and Interventions Will Help?

expressive language, communication)
were more robust than nonverbal IQ,
social functioning, and daily living skills.

WHAT GAP AREAS HAVE EMERGED SINCE LAST
YEAR?
Recent data indicate that several rare and
highly penetrant gene variants and copynumber variations (e.g., NLGN3, NLGN4,
NRXN1, SHANK2, SHANK3, PTCHD1,
maternally inherited 15q11-q13, among
others) are involved in ASD (Pinto et al.,
2010). There is a need for translational
research that can take advantage of these
new genetic findings to (1) identify
subgroups of individuals with ASD who
respond well to specific medications and
intervention approaches, (2) inform
which molecular signaling pathways are
affected in ASD, (3) develop animal
models to explore the downstream effects
of these genetic variants on brain
function, and (4) discover targets for
development of therapeutics. In order to
develop effective medical and behavioral
interventions, there is a continuing need
for autism intervention networks that can
provide platforms for conducting clinical
trials and comparative effectiveness
research using genetic and other
biomarkers for specific subtypes, other
individual characteristics, and their
relationship to response to specific
treatments for people with ASD.

In a 2010 presentation to the IACC, data
were presented from the Autism Speaks–
supported Autism Treatment Network
(ATN), a system of 14 academic health
centers throughout the United States and
Canada that provide care to more than
5,000 individuals with ASD, which
showed that 65% of individuals with ASD
experience sleep disturbances and 14% of

2011

those with sleep problems also have
seizures (Presentation to the IACC on the
Autism Treatment Network, 2010).
Gastrointestinal problems were also
reported in 50%, and those with
gastrointestinal problems were more
likely to have sleep disturbances,
behavioral problems, and a lower healthrelated quality of life. Other health issues
identified include seizures, food
sensitivities, anxiety, and depression. It is
not known whether these medical
conditions are a primary aspect of some
forms of autism or whether they are
secondary features. Recent consensus
statements and expert reviews indicate
that assessment and treatment of such
conditions can lead to improvement in
behavior and quality of life (Buie et al.,
2010a,b; Coury, 2010) and represent a
critical unmet need and great opportunity
for improving overall health and quality
of life for people with ASD. The existence
of co-occurring medical conditions in ASD
underscores the importance of identifying
subgroups of individuals with specific
medical conditions who might respond
favorably to a particular targeted
treatment. In addition, it will be necessary
to develop and test multifaceted
treatment approaches (e.g., combined
behavioral and medical interventions)
that address co-occurring medical
conditions.

In April 2010, an NIH-sponsored
workshop identified the urgent need for
more research on children with ASD who
have not developed functional verbal
language by 5 years of age (Summary of
NIH Workshop on Nonverbal School-Aged
Children with Autism, 2010). Among the
topics discussed was the development of
new intervention approaches that directly
teach spoken communication skills and

I A C C S t r a t e g i c P l a n f o r A S D R e s e a r c h | 41

Question 4: Which Treatments and Interventions Will Help?

augmentative and alternative
communication (AAC). More research is
needed on the efficacy of novel service
provision, education, and treatment
approaches that facilitate communication
skills in people with ASD who are
nonverbal and in individuals with
challenges in verbal ability, including the
need for evidence on the utility of AAC for
specific subpopulations of people with
ASD. Potential areas of investigation
include oral-motor skills, auditory/speech
processing, social attention mechanisms,
and impairments in intentional
communication. In addition, research is
needed on ways to improve access to AAC
and the most appropriate means of AAC
to utilize with specific subpopulations of
individuals on the autism spectrum,
including both individuals who are
nonspeaking and individuals with speech
that is partially or periodically limited.
Comprehensive studies focusing on both
adults and children on the autism
spectrum should address the components
of the most effective AAC approaches and
factors that enhance or moderate
improvements in communication,
behavior and quality of life as a result of
AAC usage.
Additional focus is needed to identify and
address health disparities for people with
ASD. While attention has been given to
closing disparities in access to health care
and health outcomes on the basis of race
and income, little has been done to close
this gap for people with developmental
and intellectual disabilities, including
autism (Presentation to IACC on the
Eunice Kennedy Shriver National Institute
of Child Health and Human Development
Workshop “Disparities in the
Identification of Children with ASD,”
2010; Videocast of NICHD Workshop on

2011

Disparities in Diagnosing ASD). Recent
legislative initiatives, including the
Children’s Health Insurance Program
Reauthorization Act (CHIPRA) and the
Affordable Care Act support this research,
as well as the refinement of quality-of-life
measures for children, and the
development of quality-of-life measures
for adults (CHIPRA, 2009; Patient
Protection and Affordable Care Act,
2010). The National Core Indicators (NCI)
Project, sponsored by the National
Association of State Directors of
Developmental Disabilities Services
(NASDDDS), has collected some data
regarding quality of life specifically for
people with ASD enrolled in State
programs (National Core Indicators
Project website). NCI-participating States
are using the data to inform their quality
management processes and to improve
the delivery of services and supports to
people with intellectual disabilities and
other developmental disabilities.

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Question 4: Which Treatments and Interventions Will Help?

2011

ASPIRATIONAL GOAL:
INTERVENTIONS WILL BE DEVELOPED THAT ARE EFFECTIVE FOR REDUCING BOTH
CORE AND ASSOCIATED SYMPTOMS, FOR BUILDING ADAPTIVE SKILLS, AND FOR
MAXIMIZING QUALITY OF LIFE AND HEALTH FOR PEOPLE WITH ASD.

RESEARCH OPPORTUNITIES
•

Large-scale studies that directly compare interventions and combinations of
interventions (e.g., pharmaceutical, educational, and behavioral interventions) to
identify what works best for which people and how much it will cost.

o Best practice models that are being used in community-based ASD intervention
programs.

•
•
•
•
•
•
•
•

•
•
•

•

o Clinical trials that assess the safety and efficacy of widely used interventions that
have not been rigorously studied for use in ASD populations.
o Studies in diverse populations.

Interventions that improve functioning and quality of life for people with ASD across
the lifespan, including older children, adolescents, and adults with ASD.

Early interventions that aim to prevent the development of ASD in very young “at-risk”
children and reduce family burden.
Innovative treatments that specifically target core symptom clusters unique to ASD.

Development of emerging technologies, such as assisted communication, that provide
opportunities for people with ASD to become more engaged in the community.
Animal models and/or cellular lines that can be used to test efficacy and/or safety of
ASD interventions and treatments.

Strategies that facilitate rapid translation of promising basic scientific discoveries and
community practices into clinical research and trials.

Methods of treating coexisting medical or psychiatric conditions and assessment of how
such treatments affect ASD symptoms and severity.
Interventions that may enhance neural plasticity and adaptive brain reorganization in
children, adolescents, and adults with ASD, thereby promoting significant improvement
of ASD.
Outcome studies of the effectiveness of behavioral, developmental, and cognitive
therapies and approaches.
Methods for measuring changes in core symptoms of ASD from treatment.

Dissemination research (coordinated with subsequent objectives) to ensure that
evidence-based interventions are implemented in diverse communities with fidelity
and efficiency.

Investigation of the use of medications to control challenging behaviors in people with
ASD, particularly adults.

I A C C S t r a t e g i c P l a n f o r A S D R e s e a r c h | 43

SHORT-TERM OBJECTIVES

2009
2009

2009
2009
2010
2010

Question 4: Which Treatments and Interventions Will Help?

2011

A. Support at least three randomized controlled trials that address cooccurring medical conditions associated with ASD by 2010. IACC
Recommended Budget: $13,400,000 over 3 years.

B. Standardize and validate at least 20 model systems (e.g., cellular and/or
animal) that replicate features of ASD and will allow identification of
specific molecular targets or neural circuits amenable to existing or new
interventions by 2012. IACC Recommended Budget: $75,000,000 over 5
years.
C. Test safety and efficacy of at least five widely used interventions (e.g.,
nutrition, medications, assisted technologies, sensory integration,
medical procedures) that have not been rigorously studied for use in
ASD by 2012. IACC Recommended Budget: $27,800,000 over 5 years.

D. Complete two multi-site randomized controlled trials of comprehensive
early intervention that address core symptoms, family functioning and
community involvement by 2013. IACC Recommended Budget:
$16,700,000 over 5 years.
E. Convene a workshop to advance the understanding of clinical subtypes
and treatment personalization (i.e., what are the core symptoms to
target for treatment studies) by 2011. IACC Recommended Budget:
$50,000.
F. Launch randomized controlled trials of interventions including
biological signatures and other measures to predict response, and
monitor quality of life and functional outcomes in each of the following
groups:
o Five trials in infants and toddlers by 2013. IACC Recommended
Budget: $30,000,000 over 5 years.

o Three trials in school-aged children and/or adolescents by 2013.
IACC Recommended Budget: $18,000,000 over 5 years.
o Three trials in adults by 2014. IACC Recommended Budget:
$18,000,000 over 5 years.

Note: Dates that appear next to the objectives indicate the year that the objective was added to the Strategic
Plan. If the objective was revised in subsequent editions of the Plan, the revision date is also noted.

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SHORT-TERM OBJECTIVES

2011

Question 4: Which Treatments and Interventions Will Help?

2011

G. Support at least five studies on interventions for nonverbal individuals
with ASD by 2012. Such studies may include:

o Projects examining service-provision models that enhance access to
augmentative and alternative communication (AAC) supports in both
classroom and adult service-provision settings, such as residential
service-provision and the impact of such access on quality of life,
communication, and behavior;
o Studies of novel treatment approaches that facilitate communication
skills in individuals who are nonverbal, including the components of
effective AAC approaches for specific subpopulations of people with
ASD; and
o Studies assessing access and use of AAC for children and adults with
ASD who have limited or partially limited speech and the impact on
functional outcomes and quality of life.
IACC Recommended Budget: $3,000,000 over 2 years.

2011

H. Support at least two studies that focus on research on health promotion
and prevention of secondary conditions in people with ASD by 2012.
Secondary conditions of interest include weight issues and obesity,
injury, and co-occurring psychiatric and medical conditions. IACC
Recommended Budget: $5,000,000 over 3 years.

Note: Dates that appear next to the objectives indicate the year that the objective was added to the Strategic
Plan. If the objective was revised in subsequent editions of the Plan, the revision date is also noted.

I A C C S t r a t e g i c P l a n f o r A S D R e s e a r c h | 45

LONG-TERM OBJECTIVES

2009
2009
2010
2011

Question 4: Which Treatments and Interventions Will Help?

2011

A. Complete at least three randomized controlled trials on medications
targeting core symptoms in people with ASD of all ages by 2014. IACC
Recommended Budget: $22,200,000 over 5 years.

B. Develop interventions for siblings of people with ASD with the goal of
reducing the risk of recurrence by at least 30% by 2014. IACC
Recommended Budget: $6,700,000 over 5 years.

C. Conduct at least one study to evaluate the safety and effectiveness of
medications commonly used in the treatment of co-occurring conditions
or specific behavioral issues in people with ASD by 2015. IACC
Recommended Budget: $10,000,000 over 5 years.
D. Support at least five community-based studies that assess the
effectiveness of interventions and services in broader community
settings by 2015. Such studies may include comparative effectiveness
research studies that assess the relative effectiveness of:

o Different and/or combined medical, pharmacological, nutritional,
behavioral, service-provision, and parent- or caregiver-implemented
treatments;
o Scalable early intervention programs for implementation in
underserved, low-resource, and low-literacy populations; and

o Studies of widely used community intervention models for which
extensive published data are not available.

Outcome measures should include assessment of potential harm as a
result of autism treatments, as well as positive outcomes. IACC
Recommended Budget: $37,500,000 over 5 years.

Note: Dates that appear next to the objectives indicate the year that the objective was added to the Strategic
Plan. If the objective was revised in subsequent editions of the Plan, the revision date is also noted.

46 | I A C C S t r a t e g i c P l a n f o r A S D R e s e a r c h

5. WHERE CAN I TURN FOR SERVICES?
•

What types of services and
supports should I seek, and where
can I find them?

•

What is my State or local
government doing to provide
services for ASD?

•

What is the cost of services, and
how will it be paid?

WHAT DO WE KNOW?
To fulfill the mission to “profoundly
improve the health and well-being of
every person on the autism spectrum
across the lifespan,” scientific discoveries
must be implemented in communities and
supported by public policy. The gap
between knowledge and action can only
be overcome by an aggressive focus on
engaging families, people with ASD, and
the services community in the research
process, disseminating research findings
into the community, eliminating barriers
to services, and helping people with ASD
and their families identify which services
are needed.
The communities in which children are
diagnosed vary tremendously in their
ability to meet the needs of people with
ASD (Shattuck & Grosse, 2007). Local
school districts vary in their ability to
identify and provide appropriate
educational and related programs for
children with ASD (Mandell & Palmer,
2005; Palmer et al., 2005). States vary in
the policies they have developed to
organize, finance, and deliver care. The
professional infrastructure or capacity is
often inadequate to provide timely

Question 5: Where Can I Turn for Services?

2011

diagnosis, appropriate care, services, and
supports, and assure health and safety.

While remarkable improvements have
been made in the past three decades in
understanding the best ways to identify,
assess, educate, and support people with
autism and their families, these
improvements rarely enter community
practice. In fact, some have suggested that
the lag between research and practice is
close to 20 years. When services with
proven efficacy are implemented in
community settings, they often do not
result in the same positive outcomes (i.e.,
they are efficacious in research settings,
but not effective in community practice).
The reasons for this lag and ways to
improve services only recently have
become an area of research in autism.

Another important issue for service
delivery is that community needs far
outpace the state of research. Most autism
services research has focused on
behavioral interventions for young
children. Behavioral interventions for
youth and adults, as well as community
supports that address quality of life (as
opposed to core symptoms) for people
with autism and their families have
almost no traditional evidence base to
support them. Yet these types of services
are some of the most requested and most
needed. Providers and policy makers
must therefore make decisions in the
absence of evidence. Local resources,
advocacy, and creativity about existing
funding streams all may affect what
services get funded, by whom, and for
whom.
These differences in policies, resources,
and organization result in marked
differences in the prevalence of ASD

I A C C S t r a t e g i c P l a n f o r A S D R e s e a r c h | 47

across geographic areas, the types of
services and support that are received,
availability of appropriate lifespan
transition opportunities, and the
associated costs (Fujiura, Roccoforte &
Braddock, 1994; Ganz, 2007; Järbrink,
Fombonne & Knapp, 2003; Mandell et al.,
2008; Ruble et al., 2005; Stahmer &
Mandell, 2007). In general, children with
ASD have a much more difficult time
accessing appropriate services than
children with other special health care
needs (Krauss et al., 2003). Data are still
lacking on how these differences in policy
and infrastructure relate to the
differences in services used, and in turn
how these differences affect outcomes for
children, adults, and families with ASD.
WHAT DO WE NEED?

People with ASD and their families need
assistance navigating complex service
systems to find the most appropriate
services and supports. Providers and
people with ASD and their families need
help choosing and implementing
evidence-based services that are effective
and sustainable. Policy makers and
payers for services, including private
insurers and school districts, need
assistance creating organizational
structures and financial incentives so that
high-quality interventions are
institutionalized. Equally important,
services researchers and community
organizations must collaborate to quickly
and efficiently develop much-needed
services and supports for underserved
groups among people with ASD, and to
test widely used, safe, and promising
services that may not have much evidence
to support them.

Question 5: Where Can I Turn for Services?

2011

Strategies to educate people with ASD
and their families about the best ways to
obtain appropriate services and supports
should be developed and tested. Methods
for simplifying the process by which
people access services also are needed,
with a focus on improving collaboration
across the many agencies that provide
services to people with ASD. This is
especially important for traditionally
underserved groups whose members
often are diagnosed late (or not at all),
and who are even more likely than other
people with ASD to receive inappropriate
or inadequate services.

An initial part of this process is the
assessment of needs and costs. Services
for developmental disorders are financed
largely by Federal, State, and local
agencies in both the health care and
education sectors. Because there are
significant regional differences in ASD
resources, describing this varied
landscape across States and localities in
the United States will provide important
baseline data for those with ASD so they
can appropriately seek services, and
policymakers so they can appropriately
plan for services. Research can also define
the cost-effectiveness of evidence-based
practices and thereby provide the data
needed by various payers and
policymakers.

Observational studies of current practice
can play an important role in
understanding how best to address
questions surrounding services and
supports. They can identify malleable
barriers and appropriate points of
intervention, and provide a baseline
against which to measure future progress.
Because service systems vary greatly
from place to place, these types of studies

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also can take advantage of the natural
experiments that occur as systems
struggle to respond to the needs of people
with ASD.

Experimental studies are more difficult to
design and conduct in this area of science
than they are for traditional intervention
trials, and yet are key to understanding
the best ways to improve community
services. Designs such as those used in
comparative effectiveness research,
where both groups receive intervention
(rather than having a “treatment as usual”
control), will be critically important to
satisfy ethical and practical concerns.
Because the unit of analysis for many of
these studies is the provider or system,
rather than the person with ASD, largescale network studies and quasiexperimental designs will also yield
information.
Families, people with ASD, and
communities can be empowered to
become partners in research that can in
turn inform policy. Research must include
services that are built upon principles of
self-direction and self-determination and
emphasize quality of life across the ASD
spectrum. All people with ASD, their
families, and others who support them
should have the services and supports
they need and desire throughout the
lifespan to lead productive lives in the
community, and to reach their fullest
potential.

Question 5: Where Can I Turn for Services?

2011

2011 ADDENDUM TO QUESTION 5:
WHERE CAN I TURN FOR SERVICES
WHAT IS NEW IN THIS RESEARCH AREA, AND
WHAT HAVE WE LEARNED THIS PAST YEAR?
Recent legislative initiatives, including the
Affordable Care Act passed by Congress in
2010, support research and State and
Federal programs that will positively
impact health and quality of life for
people with ASD. These include expanded
opportunities in 2014 for individuals at
133% of the Federal poverty line to
access health care; increased attention to
health and medical home care
coordination; expanded health
information technology; a national quality
improvement strategy that will develop
and refine quality measures; the
expansion of Medicaid options to provide
home and community-based services
(HCBS) through several new venues,
including “targeting” to people who do
not meet traditional institutional level of
care program requirements, and
Community First Choice services; the
extension of the Centers for Medicare &
Medicaid Services’ (CMS) Money Follows
the Person Rebalancing Demonstration
Program; the CLASS Act; increased
opportunities surrounding the removal of
barriers to providing HCBS; incentives to
offer HCBS as an alternative to nursing
homes; a new focus on improved
coordination for individuals eligible for
both the Medicare and Medicaid
programs through the Federal
Coordinated Health Care Office; and
establishment of the Center for Medicare
& Medicaid Innovation (Innovation
Center website).
The Mental Health Parity and Addiction
Equity Act of 2008 (MHPAEA), went into

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effect in 2010. Details of how parity will
be implemented are still being resolved,
but the concept of comparable coverage
for mental health and substance use
disorder benefits and physical health
services has broad implications for
children and adults with ASD. An interim
final rule was published in February 2010
by the Departments of Labor, the
Treasury, and Health and Human Services
(Federal Register, 2010).

Several recent articles focused on oral
health issues, highlighting a need to
further investigate the impact of dental
treatment on people with ASD throughout
the life course. Oral disease is a major
health challenge for people with
developmental disabilities, including ASD
(Altun et al., 2010a,b; Loo, Graham &
Hughes, 2009). In 2010 and 2011, many
State Medicaid programs that support
adults with ASD have or will substantially
reduce optional adult dental care services
(Smith, Gifford & Ellis, 2010).

Question 5: Where Can I Turn for Services?

2011

WHAT GAP AREAS HAVE EMERGED SINCE LAST
YEAR?
Access to quality and affordable oral
health care services continues to be a
challenge for children, youth, and adults
with ASD (Government Accountability
Office, 2010). In addition, access to
psychiatric expertise specific to
intellectual and developmental
disabilities (ID/DD) and ASD in State
mental health systems is poor, overall
capacity is lacking, and issues of seclusion
and restraint persist (Barry, Huskamp &
Goldman, 2010; Munir, 2009; Prouty et
al., 2008). There is greater need during a
time when disabled family members are
remaining at home longer to coordinate
community resources, including mental
health services.

A 2010 Swedish study examining risk
factors and causes of death in a cohort of
120 people with ASD found that cooccurring disorders (including sudden
unexplained death in epilepsy), accidents,
and deaths occurred at a rate 5.6 times
higher than that of the general population
(Gillberg et al., 2010). In addition,
information was presented in 2010 to the
IACC regarding wandering incidents,
some that resulted in death (Presentation
to the IACC on Wandering and ASD,
2010). In response, the IACC formed a
Safety Subcommittee to gather
information and take appropriate actions
to address wandering and other
important safety issues that impact the
autism community.

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Question 5: Where Can I Turn for Services?

2011

ASPIRATIONAL GOAL:
COMMUNITIES WILL ACCESS AND IMPLEMENT NECESSARY HIGH-QUALITY, EVIDENCEBASED SERVICES AND SUPPORTS THAT MAXIMIZE QUALITY OF LIFE AND HEALTH
ACROSS THE LIFESPAN FOR ALL PEOPLE WITH ASD.

RESEARCH OPPORTUNITIES
•
•
•

•

Development and effective dissemination of evidence-based community practices for
people with ASD across the spectrum and lifespan.

Comparative effectiveness studies of services and supports for people with ASD across
the spectrum and lifespan.

Studies that characterize current ASD diagnostic and service utilization patterns in
community settings, examine the relationship between the likelihood of a diagnosis and
services availability for ASD, and evaluate services and intervention outcomes across
the spectrum and lifespan.
Development of a coordinated, integrated, and comprehensive community-based
service delivery system for people with ASD.

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SHORT-TERM OBJECTIVES

Question 5: Where Can I Turn for Services?

2011

A. Support two studies that assess how variations in and access to services
affect family functioning in diverse populations, including underserved
Revised in 2010
populations, by 2012. IACC Recommended Budget: $1,000,000 over 3
years.

2009
2010

B. Conduct one study to examine how self-directed community-based
services and supports impact children, youth, and adults with ASD
across the spectrum by 2014. IACC Recommended Budget: $6,000,000
over 3 years.

C. Implement and evaluate five models of policy and practice-level
coordination among State and local agencies to provide integrated and
Revised in 2011
comprehensive community-based supports and services that enhance
access to services and supports, self-determination, economic selfsufficiency, and quality of life for people with ASD across the spectrum
and their families, (which may include access to augmentative and
alternative communication [AAC] technology), with at least one project
aimed at the needs of transitioning youth and at least one study to
evaluate a model of policy and practice-level coordination among State
and local mental health agencies serving people with ASD, by 2015. IACC
Recommended Budget: $25,000,000 over 5 years.

2010

2011

D. Support two studies to examine health, safety, and mortality issues for
people with ASD by 2012. IACC Recommended Budget: $4,500,000 over 3
years.

Note: Dates that appear next to the objectives indicate the year that the objective was added to the Strategic
Plan. If the objective was revised in subsequent editions of the Plan, the revision date is also noted.

52 | I A C C S t r a t e g i c P l a n f o r A S D R e s e a r c h

LONG-TERM OBJECTIVES

Question 5: Where Can I Turn for Services?

2011

A. Test four methods to improve dissemination, implementation, and
sustainability of evidence-based interventions, services, and supports in
Revised in 2010
diverse community settings by 2013. IACC Recommended Budget:
$7,000,000 over 5 years.

2009

B. Test the efficacy and cost-effectiveness of at least four evidence-based
services and supports for people with ASD across the spectrum and of all
Revised in 2010
ages living in community settings by 2015. IACC Recommended Budget:
$16,700,000 over 5 years.

2009
2010

2011
2011

C. Evaluate new and existing pre-service and in-service training to increase
skill levels in service providers, including direct support workers,
parents and legal guardians, education staff, and public service workers,
to benefit the spectrum of people with ASD to and promote
interdisciplinary practice by 2015. IACC Recommended Budget:
$8,000,000 over 5 years.

D. Evaluate at least two strategies or programs to increase the health and
safety of people with ASD that simultaneously consider principles of selfdetermination and personal autonomy by 2015. IACC Recommended
Budget: $2,000,000 over 2 years.
E. Support three studies of dental health issues for people with ASD by
2015. This should include:

o One study on the cost-benefit of providing comprehensive dental
services, including routine, non-emergency medical and surgical
dental services, denture coverage, and sedation dentistry to adults
with ASD as compared to emergency and/or no treatment. IACC
Recommended Budget: $900,000 over 3 years.

o One study focusing on the provision of accessible, person-centered,
equitable, effective, safe, and efficient dental services to people with
ASD. IACC Recommended Budget: $900,000 over 3 years.

o One study evaluating pre-service and in-service training program to
increase skill levels in oral health professionals to benefit people
with ASD and promote interdisciplinary practice. IACC Recommended
Budget: $900,000 over 3 years.

Note: Dates that appear next to the objectives indicate the year that the objective was added to the Strategic
Plan. If the objective was revised in subsequent editions of the Plan, the revision date is also noted.

I A C C S t r a t e g i c P l a n f o r A S D R e s e a r c h | 53

Question 6: What Does the Future Hold, Particularly for Adults?

6. WHAT DOES THE FUTURE HOLD,
PARTICULARLY FOR ADULTS?
•

What will my family member be
like when he/she gets older?

•

What is known about adults with
ASD, and how can I plan for the
future?

•

How does American society support
people with ASD?

WHAT DO WE KNOW?
An overarching goal of ASD research is to
enable people with ASD to lead fulfilling
and productive lives in the community.
We are in critical need of information
about the current landscape of long-term
outcomes for all people with ASD across
the spectrum. The lack of knowledge
about adults with ASD and their lifetime
support needs has repeatedly arisen as a
critical issue when stakeholders are
queried about their most fundamental
concerns. Longitudinal studies designed
to capture the range of possible outcomes
for people with ASD are best suited to
inform public policy decision-making,
service and support delivery, and funding
strategies. It is also important to improve
public understanding of ASD in adults,
including older adults, so that they may
receive support from the communities
where they live. Efforts to improve public
awareness and community supports help
foster acceptance, inclusion, and
appreciation of people with ASD.
ASD poses economic and social costs for
people with ASD, their families, and
society at large. Although ASD symptoms
vary greatly in character and severity,
autism occurs in all ethnic and

2011

socioeconomic groups and affects every
age group. Some scientists and
economists have estimated that the
combined direct and indirect costs to
provide lifelong supports for all
Americans with ASD exceeds $35 billion,
and that each person accrues
approximately $2 million to $3 million in
costs over his or her lifetime (Ganz, 2007;
Knapp, Romeo & Beechum, 2009).
Families often report incurring large
debts related to medical and educational
services not covered through public
programs or medical and dental
insurance. Many families find the
transition from the education system,
where services are mostly obligatory, to
the developmental disabilities and
vocational systems, where services are
optional, difficult to understand and
manage. This fragmentation of service
systems impedes access to services,
especially for youth transitioning to
adulthood, as well as during other periods
of transition. In addition to financial
challenges, ASD can lead to emotional
hardships for people with ASD and their
families throughout life.
WHAT DO WE NEED?

Although considerable research has
focused on the earliest phase of ASD,
including early screening, improved
diagnostics, and early intervention, far
less effort has addressed the adolescent,
adult, and older adult phases of life.
Minimal guidance exists for people with
ASD across the spectrum and their
families about the trajectories of ASD
across the lifespan. Although the general
assumption is that children who possess
expressive and receptive language skills
and coping strategies and who do not

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Question 6: What Does the Future Hold, Particularly for Adults?

demonstrate significant challenging
behaviors can sometimes excel as adults,
while children who do not currently
possess typical expressive language skills
and who engage in significant challenging
behavior will grow up to need long-term,
24/7 supports and services, the evidence
base for these ideas is lacking. Scientists
have not yet identified key prognostic
factors or detailed information about how
adults across the spectrum with ASD
function, where they are, and how they
are best supported.

More research is needed to tailor
treatments, interventions, and services
and supports to the evolving needs of
adolescents transitioning to adulthood,
and adults across the spectrum with ASD,
with an emphasis on principles of selfdetermination. There is a need to address
co-occurring conditions and
developmental changes that coincide with
transitions such as adolescence to
adulthood to better assess functional
outcomes and to integrate standardized
quality-of-life measures for adults across
the spectrum with ASD living in
community settings. Factors that
contribute to improved quality-of-life and
health outcomes in adulthood are
virtually unknown.

A number of other areas raise serious
concerns. There is little information about
the number of adults with ASD within the
criminal justice system. Some adults with
ASD may not be diagnosed, or may have
been misdiagnosed. Although issues
surrounding the direct support workforce
are well documented, we do not know if
they differ with respect to adults with
ASD. Community integration and access
to individualized, quality adult supports
and services are problematic across the

2011

United States, and long waiting lists for
subsidized community-based services
persist. Many services are available only
to people who meet institutional level of
care requirements. Additionally, there is
scant research on the use and safety of
psychopharmaceutical medications in
adults with ASD.

2011 ADDENDUM TO QUESTION 6:
WHAT DOES THE FUTURE HOLD,
PARTICULARLY FOR ADULTS?

WHAT IS NEW IN THIS RESEARCH AREA, AND
WHAT HAVE WE LEARNED THIS PAST YEAR?
The continuing lack of services research
on youth and adults diagnosed with ASD
(as well as those who go undiagnosed),
public comment received by the IACC in
2010, and the 2008 and 2009 IACC ASD
Research Portfolio Analysis reports
continue to highlight the urgent need for
additional scientific research specific to
this group (IACC, 2010a,b). In 2010,
several national advocacy organizations
devoted private resources to initiatives
on adult services that have been brought
to the IACC’s attention.

In September 2010, the Department of
Health and Human Services (HHS)
announced a joint grant program
administered by the Centers for Medicare
& Medicaid Services (CMS) and the
Administration on Aging, in part to
expand the Aging and Disability Resource
Centers to better assist people with
disabilities, older adults, and their
caregivers (HHS Press Release, 2010). As
greater numbers of adults with
disabilities, including ASD, access the
strengthened infrastructure, more
research is needed regarding their
support needs. To help define a national

I A C C S t r a t e g i c P l a n f o r A S D R e s e a r c h | 55

Question 6: What Does the Future Hold, Particularly for Adults?

research agenda on autism and aging, a
privately funded conference, “Autism and
Aging,” was held in March 2010 that
brought experts in the field together to
discuss what is currently known on the
subject and what future research is
needed. Participants identified several
priority areas, including the development
of diagnostic criteria and instruments for
diagnosing and assessing the needs of
older adults with ASD. They also cited the
need for descriptive studies that examine
the symptoms and behaviors,
neuropsychiatric features, and related
medical conditions in the population, as
well as the progression of these
characteristics over time (Piven et al.,
2010).

Several articles related to transitioning
from entitlement-based education
services to the adult services system and
higher education were published in 2010
(Chappel & Somers, 2010; McDonough &
Revell, 2010; Schall & McDonough, 2010;
Wehmeyer et al., 2010). These indicated
that early collaboration between services
system partners greatly increased access
to adult services and employment. A small
survey of Japanese adults with ASD who
did not have intellectual disability
suggested that higher levels of education
increased the likelihood of obtaining
employment, but that education did not
improve the likelihood that the job would
be retained (Yokotani, 2010). Studies
from the United States indicated that the
transition from high school may actually
have the most negative impact on
individuals with higher cognitive levels,
who are more likely to lose services
(Taylor et al., 2010a,b).
In July 2010, President Obama indicated
the Administration’s commitment to

2011

expand disability employment in the
Federal workforce, emphasizing the need
for additional research in the area of ASD
employment across the spectrum.

In other new research, recent studies
examining the role of behaviors and cooccurring conditions in adults with ASD
indicated that many people with ASD,
especially those with intellectual and
developmental disabilities (ID/DD), have
ongoing deficits related to independence
and quality of life (Chowdhury, Benson &
Hillier, 2010; Cohen et al., 2010; Esbensen
et al., 2010; Hove & Havik, 2010; Smith &
Matson, 2010a,b).
A 2010 article on the prevalence of ASD in
Iceland also indicated that ASD may be
about 50% underdiagnosed in adults,
especially in people who have ID as their
primary diagnosis (Saemundsen et al.,
2010). This finding is consistent with
recent State data specific to ASD from the
National Core Indicators Project,
sponsored by the National Association of
State Directors of Developmental
Disabilities Services (NASDDDS)
(National Core Indicators Project
website).

Finally, an environmental scan of
interventions for people with ASD,
sponsored by the Centers for Medicare &
Medicaid Services, examined
interventions for adults with ASD and
found effectiveness for only nine
interventions for adults (Young et al.,
2010). Only a third of the interventions
evaluated rated as “evidence-based.” The
report also highlighted the need for
further research on effective communitybased services for adults. For example,
adults with ASD commonly attend “day

56 | I A C C S t r a t e g i c P l a n f o r A S D R e s e a r c h

Question 6: What Does the Future Hold, Particularly for Adults?

programs,” but no formal research exists
on the practice.

WHAT GAP AREAS HAVE EMERGED SINCE LAST
YEAR?

2011

(Oregon Health & Science University, PAR
Toolkit).

Although some minimal improvement is
predicted for State budgets in 2011, State
and local governments are anticipated to
face continuing fiscal constraints
(National Governors Association &
National Association of State Budget
Officers, 2010). Budget cuts, somewhat
mitigated by ongoing Federal financial
assistance, have resulted in fewer
optional services in programs including
Medicaid, which provide many poor
adults who have ASD with acute care,
home- and community-based services,
and other supports (Johnson, Oliff &
Williams, 2010).

There is little research specific to older
adults with autism and their caregivers,
although some research from the
University Centers for Excellence in
Developmental Disabilities (UCEDD)
program, supported by the
Administration on Developmental
Disabilities (ADD) and Administration for
Children and Families (ACF), is directed at
cross-disability aging issues (Association
of University Centers on Disabilities
website). Although some research is
focused on adults on the ASD spectrum
and their families, more is needed,
including greater utilization of the
participatory action research (PAR) and
community-based participatory research
(CBPR) models (Viswanathan et al.,
2004). The Administration on
Developmental Disabilities (ADD)
supported development of a PAR Toolkit,
which could serve as a potential resource
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Question 6: What Does the Future Hold, Particularly for Adults?

2011

ASPIRATIONAL GOAL:
ALL PEOPLE WITH ASD WILL HAVE THE OPPORTUNITY TO LEAD SELF-DETERMINED
LIVES IN THE COMMUNITY OF THEIR CHOICE THROUGH SCHOOL, WORK, COMMUNITY
PARTICIPATION, MEANINGFUL RELATIONSHIPS, AND ACCESS TO NECESSARY AND
INDIVIDUALIZED SERVICES AND SUPPORTS.

RESEARCH OPPORTUNITIES
•
•

•

•
•

Studies of the scope and impact of the spectrum of ASD in adults, including diagnosis of
ASD in adulthood, needs during critical life transitions, and quality of life.

Longitudinal studies that follow carefully characterized cohorts of the broad spectrum
of adults with ASD and their families into adulthood in order to better understand their
needs during critical life transitions, and to identify and track risk and protective
factors that account for improved quality of life and health outcomes.

Projects that increase coordination across State and local delivery systems to improve
access to services and supports, particularly those that focus on transitioning youth and
adults with ASD.
Improved understanding of the challenges associated with accessing community
housing for people with ASD.

It is important to include people with ASD and their families in the scientific research
process. The use of models such as participatory action research (PAR) and communitybased participatory research (CBPR) will facilitate full participation by people with
disabilities and their family members in the planning, implementation, and evaluation
of research. (Added 2011)

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SHORT-TERM OBJECTIVES

2010

2010

2010

2010

Question 6: What Does the Future Hold, Particularly for Adults?

2011

A. Launch at least two studies to assess and characterize variation in the
quality of life for adults on the ASD spectrum as it relates to
characteristics of the service delivery system (e.g., safety, integrated
employment, post-secondary educational opportunities, community
inclusion, self-determination, relationships, and access to health services
and community-based services) and determine best practices by 2012.
IACC Recommended Budget: $5,000,000 over 3 years.
B. Evaluate at least one model, at the State and local level, in which existing
programs to assist people with disabilities (e.g., Social Security
Administration, Rehabilitation Services Administration) meet the needs
of transitioning youth and adults with ASD by 2013. IACC Recommended
Budget: $5,000,000 over 3 years.
C. Develop one method to identify adults across the ASD spectrum who
may not be diagnosed, or are misdiagnosed, to support service linkage,
better understand prevalence, and track outcomes with consideration of
ethical issues (insurance, employment, stigma) by 2015. IACC
Recommended Budget: $8,400,000 over 5 years.
D. Conduct at least one study to measure and improve the quality of
lifelong supports being delivered in community settings to adults across
the spectrum with ASD through provision of specialized training for
direct care staff, parents, and legal guardians, including assessment and
development of ASD-specific training, if necessary, by 2015. IACC
Recommended Budget: $7,500,000 over 5 years.

Note: Dates that appear next to the objectives indicate the year that the objective was added to the Strategic
Plan. If the objective was revised in subsequent editions of the Plan, the revision date is also noted.

I A C C S t r a t e g i c P l a n f o r A S D R e s e a r c h | 59

LONG-TERM OBJECTIVES

2010
2010

2010

Question 6: What Does the Future Hold, Particularly for Adults?

2011

A. Develop at least two individualized community-based interventions that
improve quality-of-life or health outcomes for the spectrum of adults
with ASD by 2015. IACC Recommended Budget: $12,900,000 over 5 years

B. Conduct one study that builds on carefully characterized cohorts of
children and youth with ASD to determine how interventions, services,
and supports delivered during childhood impact adult health and quality
of life outcomes by 2015. IACC Recommended Budget: $5,000,000 over 5
years.
C. Conduct comparative effectiveness research that includes a costeffectiveness component to examine community-based interventions,
services, and supports to improve health outcomes and quality of life for
adults on the ASD spectrum over age 21 by 2018. Topics should include:
o Community housing for people with ASD;

o Successful life transitions for people with ASD, including from postsecondary education to adult services, employment, sibling
relationships, and day programs; and
o Meeting the service and support needs of older adults with ASD.
IACC Recommended Budget: $6,000,000 over 5 years.

2010

D. Conduct implementation research to test the results from comparative
effectiveness research in real-world settings, including a costeffectiveness component to improve health outcomes and quality of life
for adults over 21 on the ASD spectrum by 2023. IACC Recommended
Budget: $4,000,000 over 5 years.

Note: Dates that appear next to the objectives indicate the year that the objective was added to the Strategic
Plan. If the objective was revised in subsequent editions of the Plan, the revision date is also noted.

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Question 7: What Other Infrastructure and Surveillance Needs Must Be Met?

7. WHAT OTHER INFRASTRUCTURE
AND SURVEILLANCE NEEDS MUST BE
MET?
•

What infrastructure systems need
to be supported, strengthened, or
built to support this plan?

•

How can we ensure that resources
and data are shared to support the
scientific research process?

•

How can we ensure that findings
are communicated to the public in a
responsible and timely manner?

•

How can we improve autism
surveillance efforts?

WHAT DO WE KNOW, AND WHAT DO WE
NEED?
Current infrastructure may be insufficient
to adequately support the research
programs outlined in this plan. Additional
investment in infrastructure is necessary
to collect and share data among
researchers, to encourage and enable
individuals with ASD and their families to
participate in research, and to improve
the speed with which findings are
disseminated and the extent to which
findings are translated into practice and
policy.
Data Sharing

In 2006, the National Institutes of Health
(NIH) launched the National Database for
Autism Research (NDAR) to improve
sample sizes and enable researchers to
share data for increased analyses. The
NIH-supported national Autism Centers of
Excellence (ACE), as well as the grants
funded under the “Research to Address
the Heterogeneity in Autism Spectrum

2011

Disorders” request for applications as
part of the American Recovery and
Reinvestment Act (ARRA), receive
funding contingent upon acceptable plans
and means for data sharing. Incentives
are needed, however, to encourage data
submission by other researchers. It will
also be necessary to link other significant
ASD databases with NDAR. In addition,
databases that collect information and
coordinate recruitment of people with
ASD and their families to participate in
research studies need to be enhanced and
expanded. Programs to support
contribution of data for recruitment,
health care, education, social services, and
administrative databases, like the
Interactive Autism Network (IAN),
collaboratively supported at the Kennedy
Krieger Institute by Autism Speaks, the
Simons Foundation, and NIH, should be
encouraged. Collecting information about
people with ASD will facilitate the study
of whether early diagnosis, entry to
services, and type of intervention affects
the course of ASD over time. Multiple data
sources from existing research or service
systems (e.g., education, Medicaid)
currently operate in isolation. In
compiling and sharing data from existing
data sources, researchers need to address
data standardization as well as important
privacy and ethical issues. Methods for
merging such databases and linking
investigator-recruited samples to these
merged databases have been used in
other populations and in specific locales
with success and need to be further
developed.
Biobanking

Many in the field have highlighted the
need to establish nationally coordinated
strategies for the collection and

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Question 7: What Other Infrastructure and Surveillance Needs Must Be Met?

preservation of postmortem tissue from
people both with and without ASD. The
existing brain and tissue bank resources
must be expanded to meet the high and
continuously increasing demand for
postmortem tissue by scientific
investigators. More well-preserved brains
are needed from people at various stages
of development, and particularly from
those with few co-occurring disorders.
Additional matched controls are needed
as well to supplement the limited supply
in existing repositories.

In addition, it will be necessary to develop
methods, standards, and protocols for
collecting and storing other biological
specimens, such as blood and urine,
which might be used to study biological
differences or signatures, and skin
fibroblasts for creation of pluripotent
stem cells.

Surveillance

Autism surveillance provides important
estimates on the number of children
affected with ASD and helps describe the
characteristics of the people with autism
spectrum disorders in the general
population. Surveillance must be
sustained over a period of many years in
order to track trends in prevalence
estimates over time and is an essential
building block for population-based
research, providing clues about potential
risk factors that warrant further study.
Surveillance provides important data
regarding early identification of children
with autism and informs education and
health systems of areas in which
programs can be modified to improve
early identification and intervention.
Surveillance data also provide critically

2011

important information for communities to
use when planning for services.
In 2007, CDC’s Autism and Developmental
Disabilities Monitoring (ADDM) Network
published the first and most
comprehensive summary of autism
prevalence estimates in the United States
(CDC, 2007). These data showed that
between 1 in 100 to 1 in 300 (with an
average of 1 in 150 children) were
identified with ASD. In October 2009,
investigators from HRSA and CDC
reported that ASD occurs in an estimated
1.1% of children 3 to 17 years old, based
on parent report during the National
Survey of Children’s Health (NSCH),
sponsored by HRSA (Kogan et al., 2009).
Updated estimates from CDC's ADDM
Network, published in December 2009,
confirmed that approximately 1% of
children were identified with an ASD
(between 1 in 80 to 1 in 240 children,
with an average of 1 in 110) (CDC, 2009).
There was an increase of 57% in
identified ASD prevalence from 2002 to
2006 in multiple areas of the United
States. While these data provide
important information for service
planning and begin to help us understand
that the increases are not fully accounted
for by improved identification, many
questions related to the multiple causes
of ASD increases remain.
There are a number of areas in which
prevalence studies could be improved,
including the continued estimation and
evaluation of prevalence in the same
population over time; assessment of ASD
prevalence in the context of other
neurodevelopmental disorders; further
analyses of existing datasets to examine
the multiple identification and potential
risk factors as they vary by prevalence;

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Question 7: What Other Infrastructure and Surveillance Needs Must Be Met?

collection of data beyond core ASD
symptoms, including genetic data and cooccurring medical, dental, and behavioral
conditions; and expansion of studies
across ages. Supporting international
autism surveillance activities, prevalence
estimates, and epidemiologic research
will also be important, in order to
compare prevalence estimates and
epidemiologic characteristics across
countries.
Communication and Dissemination

Research data regarding autism is now
being published at a rapid rate. It is
critical that new findings are
communicated promptly and
appropriately to the public so that
research findings can be better translated
into practice as appropriate. Effective
translation is important so that new
findings can be utilized to improve risk
assessment and implementation of
individualized interventions to reduce the
disabling symptoms and promote a
positive developmental trajectory as early
as possible. Additional attention needs to
be paid to improving the communication
channels between scientists,
practitioners, people with ASD, and their
families.

There is also need to build a system for
rapid replication of studies concerning
key findings. In addition, there is still not
agreement about meaningful subtypes or
about how to individualize treatment. As
more professionals become involved in
autism research, there is a need for
organized input from established
scientists to provide guidance and
expertise.

In addition, it will be necessary to identify
and address the wide range of ethical and

2011

clinical issues related to the diagnosis,
assessment, and communication of
genetic, environmental, and clinical risk
for autism.
Research Workforce Development

In order to accomplish the necessary
research in the field of autism, it will also
be important to develop an adequate
scientific workforce. While much autism
research is already under way, there are
several areas of research that are new
and growing, including interdisciplinary
research, where additional researchers
will be needed in the coming years. The
continued expansion and development of
this research workforce will be essential
to fulfilling the goals laid out in the IACC
Strategic Plan.
2011 ADDENDUM TO QUESTION 7:
WHAT OTHER INFRASTRUCTURE AND
SURVEILLANCE NEEDS MUST BE MET?
WHAT IS NEW IN THIS RESEARCH AREA, AND
WHAT HAVE WE LEARNED THIS PAST YEAR?
Data sharing
This year, the Autism Informatics
Consortium (AIC), collaboratively
supported by NIH, Autism Speaks, and the
Simons Foundation, was launched with
the goal of accelerating scientific
discovery by making informatics tools
and resources more useful to, and usable
by, autism researchers. The consortium is
charged with identifying information
technology solutions, harmonizing major
informatics frameworks, and developing
standards in the field for working with
research data. The consortium is
composed of representatives from both
public and private institutions that are
responsible for the development of major

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Question 7: What Other Infrastructure and Surveillance Needs Must Be Met?

autism informatics tools and resources.
Current members include the Autism
Genetic Resource Exchange (AGRE),
supported by Autism Speaks; the
Interactive Autism Network (IAN) at the
Kennedy Krieger Institute, supported by
NIH, Autism Speaks, and the Simons
Foundation; the Simons Foundation;
Prometheus Research, supported by the
Simons Foundation Autism Research
Initiative (SFARI); and the National
Database for Autism Research (NDAR),
supported by NIH. The AIC held its first
workshop on August 26-27, 2010, at the
National Institute of Mental Health
(NIMH)/NIH offices in Rockville, MD. In
attendance were representatives from 12
major research institutions. The objective
of the meeting was to explore short-term
(one to two years) and intermediate term
(two to five years) priorities for
increasing the utility and harmonization
of major autism research informatics
resources, identify ways to best pursue
those priorities, and determine ways to
measure progress toward achieving them.

Considerable progress has been made on
the input of data to NDAR. Data are now
available to researchers from more than
10,000 participants enrolled in studies of
ASD. Access to the data is through a
NDAR-supported webportal that allows
queries from multiple databases
simultaneously.
Biobanking

There has been considerable progress in
the growth of a number of major biobank
repositories.

The Autism Treatment Network (ATN), a
program Autism Speaks funded in part
through grants from HRSA and NIMH, is a
collaboration among 14 academic medical

2011

centers that provide clinical services for
children with ASD and collect and store
common, extensive phenotypic data on
children with autism in a central patient
registry. The NIMH is supporting ATN
efforts to collect DNA, plasma, and urine
from 4 of the 14 sites as a beginning step
toward establishing a comprehensive
biorepository for the ATN. One goal of
establishing the repository is to provide a
platform for conducting comparative
effectiveness research that can utilize
biomarkers to predict response to
treatments.

The Simons Simplex Collection, supported
by the Simons Foundation Autism
Research Initiative (SFARI), was
established to develop a permanent
research repository of detailed
phenotypic and genetic information on
3,000 simplex families with a child with
an ASD. Nearly 2,000 families had been
enrolled as of November 2010, with the
goal of completing enrollment by the
summer of 2011 (Fischbach & Lord,
2010).
The Autism Genome Project (AGP), a
collaborative effort between Autism
Speaks and several other international
partners, including the Health Research
Board of Ireland, Genome Canada, the
United Kingdom’s Medical Research
Council (MRC) and the Hilibrand
Foundation, is focusing on identifying
genes associated with the risk for ASD.
The AGP consists of 120 scientists from
more than 60 institutions representing 11
countries. The biobank now contains
23,101 total samples, including 5,814
probands (individuals who are the first
member within their family identified as
having an ASD).

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Question 7: What Other Infrastructure and Surveillance Needs Must Be Met?

The Autism Genetic Resource Exchange
(AGRE) is a program of Autism Speaks to
advance genetic research in autism
spectrum disorders. Genetic biomaterials
and clinical data are obtained from
multiplex families (i.e., families with more
than one member diagnosed with an
ASD). The biological samples, along with
the accompanying clinical data, are made
available to AGRE-approved researchers.
There are more than 10,000 samples in
the AGRE repository on individuals with
ASD and their family members (including
4,240 probands). About half of the
samples in AGRE are also represented in
the AGP.
Through the Center for Collaborative
Genetic Studies on Mental Disorders, the
NIMH/NIH supports the NIMH Genetics
Repository, a collection of DNA, cell
culture lines, and clinical data from
individuals with complex mental
disorders, including ASD. From these
materials, researchers can discover gene
variants, epigenetic signals, and
biomarkers that identify disease risk, aid
in diagnosis, and predict response to
treatments. Beginning in 2008 and
continuing through 2013, the NIMH is
sponsoring the Human Genetics Initiative
to expand the number of samples in the
NIMH Genetics Repository. The current
biobank collection consists of 589 trios
(biomaterials from an ASD-affected
individual and both parents), 513 partial
trios with biomaterials from one parent,
and 972 independent cases. In addition,
more than 1,400 ASD samples are being
processed and are expected to be
available shortly. The Human Genetics
Initiative works collaboratively with
AGRE and offers access to much of the
AGRE collection, as well as samples from
the NIMH Genetics Repository. In the

2011

coming years, NIMH will focus on
increasing the number of samples,
particularly from parents and first-degree
relatives, and linking the ASD-relevant
data with the National Database for
Autism Research.

The Eunice Kennedy Shriver National
Institute of Child Health and Human
Development (NICHD)/NIH supports the
Brain and Tissue Bank for Developmental
Disorders program, which collects, stores,
and distributes brain and other tissues for
biomedical research. The bank was
expanded in 2009 and is currently funded
through 2014. To date, researchers can
request tissue samples donated by about
60 ASD individuals, as well as tissues
from autism-related disorders like fragile
X (20 cases), tuberous sclerosis complex
(33 cases), neurofibromatosis (18 cases),
and Rett syndrome (10 cases). The use of
this tissue has resulted in 77 scientific
papers on autism and 42 papers on the
other disorders. While efforts to recruit
donors have had a positive impact, there
is still a great unmet need for ASD tissue
collection and distribution across the ASD
research community.
The Autism Tissue Program (ATP), a
clinical program of Autism Speaks, is
dedicated to supporting scientists
worldwide in their efforts to understand
autism, autism-related disorders and the
human brain. The ATP makes
postmortem brain tissue available to as
many qualified scientists as possible to
advance research on autism and other
related neurological conditions. Toward
that end, the ATP has acquired 150 whole
brain donations from individuals with
autism, autism-related disorders, their
relatives, and controls, while making all

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Question 7: What Other Infrastructure and Surveillance Needs Must Be Met?

tissue and comprehensive phenotype data
available to the research community.
Surveillance

One area that has progressed is the
establishment of systems to identify and
monitor the prevalence of ASD in the
United States. The CDC’s ADDM Network
(CDC, 2009) and a report from the HRSAsponsored National Survey of Children’s
Health (Kogan et al., 2009) reported ASD
prevalence of around 1% of children. Of
great concern was the average increase of
57% from 2002 to 2006 in 10 areas of the
United States covered by the ADDM
Network (CDC, 2009). While some of the
increase was attributed to improved
identification of particular subgroups,
such as Hispanic children and children
without cognitive impairment, a true
increase in risk is also possible. (CDC,
2009) Several other recent studies have
also indicated that multiple identification
factors contribute to, but do not fully
explain, the rising ASD prevalence (HertzPicciotto & Delwiche, 2009; Saemundsen
et al., 2010; King & Bearman, 2009; Rice
et al., 2010; van Meter et al., 2010;
Mazumdar et al., 2010). Concerted efforts
are now needed to evaluate the reasons
behind these changes.
Information and Communication
Dissemination

Of particular importance is the rapid
translation of research findings as they
apply to intervention and the
dissemination to families and
practitioners in the community in a way
that is easy to access and understand.
There have been several reviews of
intervention quality and effectiveness
(Young et al., 2010; Lang et al., 2010), and
several States have formed task forces or

2011

councils for ASD and other developmental
disability (DD) services and have
compiled service plans based on the
current state of knowledge (Summary of
the Massachusetts Act Early State Team
Autism Summit).

In October 2010, the Administration on
Developmental Disabilities
(ADD)/Administration for Children and
Families (ACF) awarded The Arc of the
United States $1.87 million for fiscal year
2010 to establish a National Resource and
Information Center on ASD and other
developmental disabilities. The Autism
NOW Project is collaborating with several
partners, including the Autistic Self
Advocacy Network (ASAN), the Autism
Society, and several ADD Network entities
to engage and leverage a national
network of disability, aging, and family
organizations. The center will provide
high-quality resources and information
related to community-based services that
support independent living and selfdetermination, treatment protocols that
promote community-based experiences
(e.g., education, employment, recreation,
transportation, early intervention, and
child care), and evidence-based
interventions. The intended audience for
the center includes people with ASD,
family members, service providers,
researchers, and the general public. The
center will also host a parent-to-parent
call-in center for families addressing
issues relating to autism and other
developmental disabilities. More
information about the center can be
found at http://www.autismNOW.org.
Research Workforce Development
In 2009, NIH supported 60 trainees
(graduate students and postdoctoral

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Question 7: What Other Infrastructure and Surveillance Needs Must Be Met?

fellows) through individual NIH training
and fellowship grants to study autism.
These are in addition to a large number of
trainees supported by NIH in 2009 on
more than 200 traditionally funded NIH
research project grants focused on
autism, as well as more than 100 new
autism-related research projects funded
under the American Recovery and
Reinvestment Act (ARRA). Private
research organizations such as Autism
Speaks and the Autism Science
Foundation also supported several
research training awards in 2009 and
2010.

WHAT GAP AREAS HAVE EMERGED SINCE LAST
YEAR?
Data sharing
The Autism Informatics Consortium (AIC)
identified several short-term and longterm priorities for increasing the utility
and harmonization of major autism
research informatics resources,
identifying ways to best pursue those
priorities, and determining ways to
measure progress toward achieving them.
Examples of gap areas identified include
the need for improved options for data
federation, query interfaces, and
languages; genetic visualization tools; file
and data set management; data quality
and validation rules and algorithms; data
dictionaries and ontologies; standardizing
globally unique identifier (GUID) usage;
procedures for maintaining phenotype
resources with associated biospecimens
(i.e., imaging and genetics); defining a
core (clinical) phenotype battery;
working with publishers of copyrighted
assessments; and addressing concerns
about intellectual property.

2011

During 2010, the Affordable Care Act was
passed with an unprecedented call to
transition record keeping to electronic
health records (EHRs). The development
of EHRs provides an opportunity to
consider the use of EHRs for data
collection and analyses related to the
service needs of people with ASD. Of
course, important privacy issues need to
be considered and addressed before these
types of data could be more routinely
collected and utilized as part of EHRs.
Biobanking

In the absence of biological markers,
current approaches for stratification of
individuals with ASD into clinically
meaningful subgroups have relied on
behavioral characteristics. However, the
variability of behavioral, medical, and
developmental concerns that affect
individuals with ASD has made it
extremely difficult to predict which
treatments work best for which
individuals. The integration of biologic
information into phenotype selection
algorithms can help to guide the
development and evaluation of more
targeted and effective therapeutics and
significantly improve the prediction of a
therapeutic response. To this end, there is
a need for the establishment of a robust
network of clinical research sites offering
clinical care in real-world settings that
can collect and coordinate standardized
and comprehensive diagnostic, biological
(e.g., genotype), medical, and treatment
history data that would provide a
platform for conducting comparative
effectiveness research and clinical trials
of novel autism treatments. Currently,
there is a need for high-throughput
screening tools to quickly evaluate geneenvironment interactions relevant to ASD

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Question 7: What Other Infrastructure and Surveillance Needs Must Be Met?

(e.g., induced pluripotent stem cells). Lack
of progress in this area has made
identification of potential exposures of
interest difficult and driven by anecdotal
evidence.
Surveillance

Moving forward, there is a need to
maintain the sites so that early
prevalence and population characteristics
can be compared over time. A particular
challenge is keeping consistency in the
number of sites with four-year funding
cycles and different numbers of sites
funded based on availability of funds. In
addition, completeness of data collection
is hindered in some sites by the lack of
access to educational records for
surveillance purposes. Despite these
challenges, the CDC’s ADDM Network has
maintained a core of approximately 12
sites with multiple prevalence years
completed. There is now a need to go
further to understand how multiple
identification and potential risk factors
have influenced the increasing estimates
of ASD prevalence. Further analyses of
existing datasets are needed to examine
any relationship between changes in ASD
prevalence and changes in potential risk
factors in the population. Surveillance
cohorts also provide the opportunity for
communities and policy makers to use
these data for resource allocation in
addition to characterizing populationbased identification patterns and gaps.
Surveillance data can also be used to
better characterize the population of
children identified with an ASD by select
characteristics, such as level of cognitive
impairment, subtypes as diagnosed by
community professionals, diagnostic
features, associated conditions, and
degree of impairment by clinician rating.

2011

Expansion of surveillance efforts are
needed to improve early identification
and to understand functioning and
outcome of individuals with an ASD as
adults.
Communication and Information
Dissemination

There have been several reviews of
intervention quality and effectiveness,
and several States or agencies (e.g.,
Governor’s councils, task forces and the
Department of Education) have
developed plans for ASD and other DD
services based on the current state of
knowledge. This information and these
plans should be easily accessible to other
communities. Right now, there are many
public and private resources that work to
compile services and supports
information; however, finding this
information can be challenging.

Focusing more on the issue of translating
research into practice, the IACC Services
Workshop on November 8, 2010, called
for research that is meaningful to
teachers and family members and
conducted in non-clinical settings to
better simulate the settings in which
children with ASD are being served. This
will help to ensure that students with ASD
receive high-quality special education
services.
The Agency for Healthcare Research and
Quality (AHRQ) has ongoing efforts
related to translation of research into
practice. This work includes identifying
sustainable and reproducible strategies
(1) to help accelerate the impact of health
services research on direct patient care
and (2) to improve the outcomes, quality,
effectiveness, efficiency, and/or costeffectiveness of care through

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2011

partnerships between health care
organizations and researchers. To further
address the challenges around
dissemination of research findings, AHRQ
developed a “knowledge transfer
framework,” which encompasses three
major stages: knowledge creation and
distillation; diffusion and dissemination;
and end user adoption, implementation,
and institutionalization. While this work
is not specific to autism, it may provide a
useful framework to guide autism
research translation efforts.
Research Workforce Development

Ongoing investment in developing
research expertise and facilitating careers
in autism research is needed, especially in
the emerging areas of health services
research, translational research, and
international collaborative studies. In
addition, continued efforts to enhance
diversity in the research workforce are
needed, including efforts to include
people with disabilities and in particular
individuals with ASD. Funds from the
American Recovery and Reinvestment Act
(ARRA) increased investments in ASD
research, which contributed to recent
expansion of the research workforce
(particularly the number of graduate and
postdoctoral students working in the
field). With ARRA funding ending in 2011
and the potentially constrained fiscal
climate anticipated for fiscal years 2011
and 2012, there is growing concern about
the ability for both Federal and private
entities to support recent gains in the
research workforce.

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Question 7: What Other Infrastructure and Surveillance Needs Must Be Met?

2011

ASPIRATIONAL GOAL:
DEVELOP AND SUPPORT INFRASTRUCTURE AND SURVEILLANCE SYSTEMS THAT
ADVANCE THE SPEED, EFFICACY, AND DISSEMINATION OF AUTISM RESEARCH.

SHORT- AND LONG-TERM OBJECTIVES

2009

A. Conduct a needs assessment to determine how to merge or link
administrative and/or surveillance databases that allow for tracking the
involvement of people living with ASD in health care, education, and
social services by 2009. IACC Recommended Budget: $520,000 over 1
year.

B. Conduct an annual “State of the States” assessment of existing State
programs and supports for people and families living with ASD by 2011.
Revised in 2011
IACC Recommended Budget: $300,000 each year.

2009
2009
2009

C. Develop and have available to the research community means by which
to merge or link databases that allow for tracking the involvement of
people in ASD research by 2010. IACC Recommended Budget: $1,300,000
over 2 years.

D. Establish and maintain an international network of biobanks for the
collection of brain tissue, fibroblasts for pluripotent stem cells, and other
tissue or biological material, by acquisition sites that use standardized
protocols for phenotyping, collection, and regulated distribution of
limited samples by 2011. (Revised 2011)
o This includes support for post-processing of tissue, such as
genotyping, RNA expression profiling, and MRI.

o Protocols should be put into place to expand the capacities of
ongoing large-scale children’s studies to collect and store additional
biomaterials, including newborn bloodspots, promoting detection of
biological signatures.

o Support should also be provided to develop an international webbased digital brain atlas that would provide high-resolution 3-D
images and quantitative anatomical data from tissue of patients with
ASD and disease controls across the lifespan, which could serve as an
online resource for quantitative morphological studies, by 2014.
IACC Recommended Budget: $82,700,000 over 5 years.

Note: Dates that appear next to the objectives indicate the year that the objective was added to the Strategic
Plan. If the objective was revised in subsequent editions of the Plan, the revision date is also noted.

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2011

SHORT- AND LONG-TERM OBJECTIVES

2010

E. Begin development of a web-based toolbox to assist researchers in
effectively and responsibly disseminating their findings to the
community, including people with ASD, their families, and health
practitioners, by 2011. IACC Recommended Budget: $400,000 over 2
years.

2010

F. Create funding mechanisms that encourage rapid replication studies of
novel or critical findings by 2011.

2010

H. Create mechanisms to specifically support the contribution of data from
90% of newly initiated projects to the National Database for Autism
Research (NDAR), and link NDAR with other existing data resources, by
2012. IACC Recommended Budget: $6,800,000 over 2 years.

2010

2010
2010

2010

G. Develop a web-based tool that provides population estimates of ASD
prevalence for States based on the most recent prevalence range and
average identified by the ADDM Network by 2012. IACC Recommended
Budget: $200,000 over 2 years.

I. Supplement existing ADDM Network sites to use population-based
surveillance data to conduct at least five hypothesis-driven analyses
evaluating factors that may contribute to changes in ASD prevalence by
2012. IACC Recommended Budget: $660,000 over 2 years.
J. Develop the personnel and technical infrastructure to assist States,
territories, and other countries that request assistance describing and
investigating potential changes in the prevalence of ASD and other
developmental disabilities by 2013. IACC Recommended Budget:
$1,650,000 over 3 years.

K. Encourage programs and funding mechanisms that expand the research
workforce, enhance interdisciplinary research training, and recruit
early-career scientists into the ASD field by 2013. IACC Recommended
Budget: $5,000,000 over 3 years.

L. Expand the number of ADDM sites in order to conduct ASD surveillance
in children and adults; conduct complementary direct screening to
Revised in 2011
inform completeness of ongoing surveillance; and expand efforts to
include autism subtypes by 2015. IACC Recommended Budget:
$16,200,000 over 5 years.

2010

Note: Dates that appear next to the objectives indicate the year that the objective was added to the Strategic
Plan. If the objective was revised in subsequent editions of the Plan, the revision date is also noted.

I A C C S t r a t e g i c P l a n f o r A S D R e s e a r c h | 71

Question 7: What Other Infrastructure and Surveillance Needs Must Be Met?

2011

SHORT- AND LONG-TERM OBJECTIVES

2010

2011

2011

M. Support 10 “Promising Practices” papers that describe innovative and
successful services and supports being implemented in communities
that benefit the full spectrum of people with ASD, which can be
replicated in other communities, by 2015. IACC Recommended Budget:
$75,000 over 5 years.

N. Enhance networks of clinical research sites offering clinical care in realworld settings that can collect and coordinate standardized and
comprehensive diagnostic, biological (e.g., DNA, plasma, fibroblasts,
urine), medical, and treatment history data that would provide a
platform for conducting comparative effectiveness research and clinical
trials of novel autism treatments by 2012. IACC Recommended Budget:
$1,850,000 over 1 year.

O. Create an information resource for ASD researchers (e.g., PhenX Project)
to share information to facilitate data sharing and standardization of
methods across projects by 2013.
o This includes common protocols, instruments, designs, and other
procedural documents and should include updates on new
technology and links to information on how to acquire and utilize
technology in development.

o This can serve as a bidirectional information reference, with autism
research driving the development of new resources and technologies,
including new model systems, screening tools, and analytic
techniques.
IACC Recommended Budget: $2,000,000 over 2 years.

2011

P. Provide resources to centers or facilities that develop promising
vertebrate and invertebrate model systems, and make these models
more easily available or expand the utility of current model systems, and
support new approaches to develop high-throughput screening
technologies to evaluate the validity of model systems by 2013. IACC
Recommended Budget: $1,100,000 over 2 years.

Note: Dates that appear next to the objectives indicate the year that the objective was added to the Strategic
Plan. If the objective was revised in subsequent editions of the Plan, the revision date is also noted.

72 | I A C C S t r a t e g i c P l a n f o r A S D R e s e a r c h

Research Resources

RESEARCH RESOURCES

2011

Below is a list of currently available resources for conducting ASD research. It includes
government and nongovernment resources spanning topics such as genetics,
bioinformatics, brain and tissue samples, and animal resources, as well as resources related
to surveillance, prevalence, and services.
GOVERNMENT RESOURCES

ADDM (Autism and Developmental Disabilities Monitoring) Network
www.cdc.gov/ncbddd/autism/addm.html

A surveillance network that provides data about ASD prevalence and describes the
population of children with ASD. Supported by CDC.
AutismNOW: The National Autism Resource and Information Center
www.autismNOW.org

A center that provides access to resources and information on community-based services
and interventions for people with ASD and their families, through a national dissemination
network, regional events, training and technical assistance, and the web. Supported by the
Administration on Developmental Disabilities/Administration for Children and Families.
CADDRE (Centers for Autism and Developmental Disabilities Research and
Epidemiology)
www.cdc.gov/ncbddd/autism/caddre.html

Regional centers of excellence for ASD and other developmental disabilities, which are
currently conducting the largest U.S. study of ASD risk factors. Supported by CDC.
National Children’s Study

www.nationalchildrensstudy.gov

A population-based study of environmental influences on child health and development
that could be used to investigate the relationship between genetic and environmental risk
markers and ASD diagnosis. Supported by NIH.
NDAR (National Database for Autism Research)
http://ndar.nih.gov

A secure bioinformatics platform for scientific collaboration and data sharing between ASD
investigators. Supported by NIH.

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NDAR Data Definition

Research Resources

2011

http://ndar.nih.gov/ndarpublicweb/standards.go

Provides data definitions of ASD research terminology. Supported by NIH.
NICHD Brain and Tissue Bank

http://medschool.umaryland.edu/BTBank

A brain tissue repository to support and enhance the acquisition and distribution of tissue
samples from deceased individuals diagnosed with intellectual and developmental
disabilities for use in research studies. Supported by NIH.
NIF (Neuroscience Information Framework)
http://nif.nih.gov

A dynamic inventory of web-based neuroscience resources that enables discovery and
worldwide access to these resources through an open source, networked environment. The
NeuroLex project, within NIF, is a dynamic lexicon to improve communication among
neuroscientists about their data by standardizing neuroscience terminology. Supported by
NIH.
NIH Blueprint Non-Human Primate Atlas
www.blueprintnhpatlas.org/nhp

An atlas mapping the expression of particular genes to specific neuroanatomical locations
across several time points in development in the rhesus monkey. Supported by NIH.
NIH Pediatric MRI Data Repository
http://nih-pediatricmri.org

A multi-site longitudinal study using technologies (anatomical magnetic resonance imaging
[MRI], diffusion tensor imaging [DTI], and magnetic resonance spectroscopy [MRS]) to map
pediatric brain development. Supported by NIH.
NIMH Center for Collaborative Genetic Studies of Mental Disorders
http://nimhgenetics.org

A repository of biospecimens from individuals with mental illnesses such as schizophrenia,
bipolar disorder, autism spectrum disorders, depression, and obsessive-compulsive
disorders. Supported by NIH.

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NIMH Transcriptional Atlas of Human Brain Development

Research Resources

2011

www.developinghumanbrain.org

A foundational resource created using funds from the American Recovery and
Reinvestment Act (ARRA) for studying transcriptional mechanisms involved in human
brain development. Supported by NIH.
NITRC (Neuroimaging Informatics Tools and Resources Clearinghouse)
www.nitrc.org

A neuroimaging tools repository, NITRC facilitates finding and comparing neuroimaging
resources for functional and structural neuroimaging analyses. Supported by NIH.
NON-GOVERNMENT RESOURCES

AGRE (Autism Genetic Resource Exchange)
www.agre.org

A repository for biomaterials and associated phenotype and genotype information from
more than 1,000 individuals with an ASD diagnosis and their families. Supported by Autism
Speaks.
ALLEN Human Brain Atlas
www.brain-map.org

A unique multi-modal atlas of the human brain that integrates anatomic data (MRI, DTI,
histology) and gene expression data (microarray, in situ hybridization), coupled with a
suite of visualization and mining tools, to create an open public resource for brain
researchers and other scientists across a wide range of specialties, including autism.
Maintained by the Allen Institute for Brain Science.
Autism Genome Project

www.autismspeaks.org/science/research/initiatives/autism_genome_project.php

A study to find the genes associated with inherited risk for autism. Supported by Autism
Speaks and other partners, including the Health Research Board of Ireland, Genome
Canada, the United Kingdom’s Medical Research Council (MRC), and the Hilibrand
Foundation.
Autism Induced Pluripotent Stem Cell (iPSC) Biorepository (ASCB)
http://www.nhnscr.org/autism.html

A biorepository of fibroblast and iPSC lines cultured from patients with idiopathic autism
as well as patients with FMR1 gene mutations. Maintained by the National Human Neural
Stem Cell Resource at the Children’s Hospital of Orange County and fully supported by the
NIH.
I A C C S t r a t e g i c P l a n f o r A S D R e s e a r c h | 75

Research Resources

2011

Autism Tissue Program
www.brainbank.org

An ASD brain tissue repository. Supported by Autism Speaks.
Autism Treatment Network

www.autismspeaks.org/science/programs/atn

A network of hospitals and physicians dedicated to developing a model of comprehensive
medical care for children and adolescents with autism. A program of Autism Speaks funded
in part through grants from HRSA and NIH.
Coriell Institute’s Autism Research Resource

http://ccr.coriell.org/sections/Collections/AUTISM/?SsId=13

A biobank of cell lines and DNA samples from autistic individuals and family members with
corresponding detailed clinical diagnoses. The biobank is maintained and fully supported
by Coriell Institute for Medical Research, in collaboration with the University of Medicine
and Dentistry, Robert Wood Johnson Medical School, New Jersey.
High Risk Baby Siblings Research Consortium

www.autismspeaks.org/science/research/initiatives/babysibs.php

A consortium studying the infant siblings of children with ASD in order to identify early
behavioral and biomedical markers of the disorder. Supported by Autism Speaks and NIH.
IAN (Interactive Autism Network)
www.ianproject.org

An online registry of more than 35,000 people who have or are related to those with ASD.
Collaboratively supported at the Kennedy Krieger Institute by Autism Speaks, the Simons
Foundation, and NIH.
ISAAC (Internet System for Assessing Autistic Children)
www.autismtools.org/index.cfm

A web-based application for administering and managing health research projects/studies
and the associated data. Supported by Autism Speaks.
REDCap (Research Electronic Data Capture)
http://project-redcap.org

Two secure, web-based applications (REDCap and REDCap Survey) designed to support
data capture for research studies. Maintained by the REDCap Consortium, comprised of
194 active institutional partners.
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SFARI Gene/AutDB (Autism Database)

Research Resources

2011

http://gene.sfari.org/
www.mindspec.org/autdb_read.html

A publicly available webportal for ongoing collection, manual annotation, and visualization
of genes associated with autism from the published literature. SFARI Gene is licensed by
the Simons Foundation from MindSpec.
Simons Simplex Collection

https://sfari.org/simons-simplex-collection

A repository of genetic samples and phenotypic data from families where parents without
ASD give birth to a child with the disorder. Supported by the Simons Foundation Autism
Research Initiative (SFARI).

I A C C S t r a t e g i c P l a n f o r A S D R e s e a r c h | 77

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IACC Roster

2011

INTERAGENCY AUTISM COORDINATING COMMITTEE MEMBER ROSTER

For member bios and more information about the Committee, visit
http://iacc.hhs.gov/about/member-roster.shtml
CHAIR

Thomas R. Insel, M.D.
Director
National Institute of Mental Health
National Institutes of Health
Bethesda, MD
FEDERAL MEMBERS

James F. Battey, M.D., Ph.D.
Director
National Institute on Deafness and Other
Communication Disorders
National Institutes of Health
Bethesda, MD
Linda Birnbaum, Ph.D.
Director
National Institute of Environmental
Health Sciences
National Institutes of Health
Research Triangle Park, NC

Ellen W. Blackwell, M.S.W.
Division of Community and Institutional
Services
Disabled and Elderly Health Programs
Group
Center for Medicaid and State Operations
Centers for Medicare & Medicaid Services
Baltimore, MD
Coleen Boyle, Ph.D.
Acting Director
National Center on Birth Defects and
Developmental Disabilities
Centers for Disease Control and
Prevention
Atlanta, Georgia

Henry Claypool
Director
Office on Disability
U.S. Department of Health and Human
Services
Washington, DC
Francis S. Collins, M.D., Ph.D.
Director
National Institutes of Health
Bethesda, MD

Alan E. Guttmacher, M.D.
Acting Director
Eunice Kennedy Shriver National Institute
of Child Health and Human
Development
National Institutes of Health
Bethesda, MD
Gail R. Houle, Ph.D.
Associate Division Director
Research-to-Practice Division
Early Childhood Programs
Office of Special Education Programs
U.S. Department of Education
Washington, DC

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IACC Roster

Larke N. Huang, Ph.D.
Senior Advisor on Children
Office of the Administrator
Substance Abuse and Mental Health
Services Administration
Rockville, MD

Walter J. Koroshetz, M.D.
Deputy Director
National Institute of Neurological
Disorder and Stroke
National Institutes of Health
Bethesda, MD
Geraldine Dawson, Ph.D.
Chief Science Officer
Autism Speaks
New York, New York

Sharon Lewis
Commissioner
Administration on Developmental
Disabilities
Administration for Children and Families
Washington, DC

Yvette M. Janvier, M.D.
Medical Director
Children’s Specialized Hospital
Toms River, NJ
Christine M. McKee, J.D.
Rockville, MD

Ari Ne'eman
Founding President
Autistic Self-Advocacy Network
Washington, DC

Peter van Dyck, M.D., M.P.H.
Associate Administrator
Maternal and Child Health
Health Resources and Services
Administration
Rockville, MD

PUBLIC MEMBERS

Gerald D. Fischbach, M.D.
Scientific Director
Simons Foundation Autism Research
Initiative
New York, New York

Lee Grossman
President and CEO
Autism Society of America
Bethesda, MD

2011

Lyn Redwood, RN, M.S.N.
Co-Founder and Executive Director
Coalition for Safe Minds
Tyrone, GA

Denise D. Resnik
Board Member and Co-Founder
Southwest Autism Research and Resource
Center
Phoenix, Arizona
Stephen M. Shore, Ed.D.
Executive Director
Autism Spectrum Consulting and
Assistant Professor of Special Education
Adelphi University
Newton, MA
Alison Tepper Singer, M.B.A.
President
Autism Science Foundation
New York, NY

Marjorie Solomon, Ph.D., M.B.A.
Assistant Clinical Professor
University of California, Davis
School of Medicine and
M.I.N.D. Institute
Sacramento, California

I A C C S t r a t e g i c P l a n f o r A S D R e s e a r c h | 95

NIH/NIMH Office of Autism Research Coordination Staff

NIH/NIMH OFFICE OF AUTISM RESEARCH COORDINATION STAFF

6001 Executive Boulevard, Room 8185, Bethesda, MD 20892
Email: [email protected]
Della M. Hann, Ph.D.
Acting Director

Susan A. Daniels, Ph.D.
Deputy Director

Elizabeth M. Baden, Ph.D.
Policy Analyst
Erin H. Bryant, M.J.
Science Writer/Editor

Sara E. Dodson, Ph.D.
AAAS Science & Technology
Policy Fellow/Health Scientist
Nicole Jones
Web Developer

Miguelina Perez
Management Analyst

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2011