Appendix A

Federal Agency and Private Organization Mission Statements

Federal Agencies – Department of Health and Human Services (HHS)

Administration for Community Living (ACL)

Administration for Community Living (ACL) Formed in 2012, ACL serves as the federal agency responsible for increasing access to community supports, while focusing attention and resources on the unique needs of older Americans and people with disabilities across the lifespan. ACL funds the AutismNOW web resource hosted by the Arc, which provides information for the ASD community on topics including detection, intervention, education, transition from high school into early adulthood, employment, advocacy, community inclusion, aging issues, and public policy.

Agency for Healthcare Research and Quality (AHRQ)

Agency for Healthcare Research and Quality (AHRQ) The mission of AHRQ is to improve the quality, safety, efficiency, and effectiveness of health care for all Americans. Their portfolio includes projects to evaluate the comparative effectiveness of autism interventions and to conduct systematic reviews of the literature on topics such as autism screening and autism interventions, with the goal of evaluating the strength of the evidence supporting practices and identifying gaps in research. AHRQ also funds projects aimed at disseminating information about best practices and other findings from their reviews to researchers, practitioners, the patient community, and other stakeholders.

Centers for Disease Control and Prevention (CDC)

The mission of CDC is to create the expertise, information, and tools that people and communities need to protect their health. This is achieved through health promotion, prevention of disease, injury and disability, and preparedness for new health threats. CDC’s autism research portfolio includes projects to collect data on ASD prevalence and risk factors, and projects to improve awareness, early detection, and intervention.

Health Resources and Services Administration (HRSA)

HRSA is the primary federal agency for improving access to health care services for people who are uninsured, isolated, or medically vulnerable. The Maternal and Child Health Bureau (MCHB) supports autism-related programs through its Combating Autism Act Initiative (CAAI), including projects to increase awareness, reduce barriers to screening and diagnosis, promote the development of guidelines for evidence-based practices, and train health care professionals to provide screening as well as diagnostic and early, evidence-based intervention. Flagship programs include the Autism Intervention Research Networks (AIR-B and AIR-P), the Developmental Behavioral Pediatrics Research Network (DBPNet), and the Leadership Education in Neurodevelopmental and Related Disabilities (LEND) program.

National Institutes of Health (NIH)

The mission of NIH is to seek fundamental knowledge about the nature and behavior of living systems and the application of that knowledge to enhance health, lengthen life, and reduce illness and disability. The NIH supports a broad range of research on ASD, including projects on the basic neuroscience of ASD, risk factors, diagnosis, intervention, and services research. One of the flagship autism programs funded by NIH, the Autism Centers of Excellence (ACE), is a collection of research centers and networks across the country that conduct research on ASD. Since 2014, NIH has funded the ServASD initiative, which supports research to develop and test the effectiveness of service strategies to improve functional outcomes in early childhood, transition from youth to adulthood, and adulthood. NIH also funds interdisciplinary data repositories such as the National Database for Autism Research (NDAR) to facilitate the sharing of autism research data among scientists worldwide.

Federal Agencies – Other

Department of Defense (DoD)

The Department of Defense (DoD) is charged with coordinating and supervising all agencies and functions of the government concerned directly with national security and the United States Armed Forces. Within the DoD’s Defense Health Research Program, the Congressionally Directed Medical Research Program’s Autism Research Program (ARP) was established in 2007, with the mission to improve the lives of individuals with ASD by promoting innovative research that advances the understanding of ASD and leads to improved outcomes for those with ASD. The projects that the ARP funds span the scope of the IACC.

Department of Education (ED)

The mission of the U.S. Department of Education is to promote student achievement by fostering educational excellence and ensuring equal access. The department funds a portfolio of ASD-related projects relating to development and delivery of educational interventions and services, particularly for children and transition-aged youth. A large portion of ED’s funding goes towards developing practitioner training as well as investment in training researchers. ED also supports funding towards a joint initiative between ED, HHS, Department of Labor, and the Social Security Administration called Promoting Readiness of Minors in Supplemental Security Income (PROMISE), which was created to foster improved health, education, and post-secondary outcomes for children ages 14-16 who receive Supplemental Security Income (SSI), as well as their families.

Environmental Protection Agency (EPA)

The mission of the U.S. EPA is to protect human health and the environment. EPA co-funds the Center for Children's Environmental Health (CCEH) at the University of California at Davis with the National Institute of Environmental Health Sciences (NIEHS)/ NIH, which conducts research into how environmental exposure to toxins might interact with a person’s genes and immune system to influence the risk and severity of ASD.

National Science Foundation (NSF)

NSF is an independent federal agency, formed by Congress to promote the progress of science and to advance the national health, prosperity, and welfare. NSF funds basic research in biology, mathematics, computer science, and the social sciences as well as technology development, but it does not focus on health or disease-related research. Although NSF does not have a program focused on ASD, it funds several projects that involve basic science or technologies with the potential to be applied to ASD in the future. NSF is a leading funder of projects involving technological interventions and supports, including robotics and virtual reality technologies that could be used to enhance daily living skills and activities of individuals with disabilities.

Private Organizations

Autism Research Institute (ARI)

ARI’s mission is to meet the needs of the global autism community through research, networking, education, and support for families and people of all ages on the autism spectrum. ARI is dedicated to developing a standard of care for individuals with autism spectrum disorders and their families, and funds a range of work with a particular emphasis on investigation of the biological underpinnings of autism, including immune and metabolic pathways.

Autism Science Foundation (ASF)

ASF’s mission is to support autism research by providing funding and other assistance to scientists and organizations conducting, facilitating, publicizing, and disseminating autism research. The organization also provides information about autism to the general public and serves to increase awareness of autism spectrum disorders and the needs of individuals and families affected by autism. ASF funds the Autism Sisters Project, which recruits unaffected sisters of individuals with autism to help researchers understand the female protective effect. ASF also supports the Baby Siblings Research Consortium, a network of researchers studying the earliest behavioral and biological features of ASD. In addition, ASF funds pre- and postdoctoral trainees to conduct basic and clinical research relevant to ASD, including studies focused on a wide range of topics such as identification of biomarkers, molecular and cellular mechanisms, genetic and environmental risk factors, treatments, and service delivery.

Autism Speaks (AS)

AS is the world's largest autism science and advocacy organization, dedicated to funding research into the causes, prevention, treatments, and a cure for autism; increasing awareness of autism spectrum disorders; and advocating for the needs of individuals with autism and their families. AS funds a broad profile of ASD research ranging from basic neuroscience and the molecular causes of autism to implementation and testing of interventions for those diagnosed with autism. Autism Speaks supports the Autism Treatment Network (ATN), a collaboration of 14 specialty centers dedicated to providing families with state-of-the-art, multidisciplinary healthcare for children and teens affected by autism.

Brain & Behavior Research Foundation (BBRF)

BBRF funds basic neuroscience research to elucidate the molecular mechanisms underlying brain disorders and conditions. BBRF’s autism research portfolio primarily includes studies on the genetics and molecular mechanisms underlying autism.

Center for Autism and Related Disorders (CARD)

CARD is one of the world's largest organizations using applied behavior analysis (ABA) in the treatment of ASD, and other related disorders. CARD’s research portfolio is centered around developing new behavioral interventions, assessing existing behavioral interventions, and developing and implementing training/intervention programs for individuals on the autism spectrum from birth to age 21.

Organization for Autism Research (OAR)

The mission of OAR is to support research that directly impacts the day-to-day quality of life of those with ASD. This includes research to inform and improve education, communication, self-care, social skills, employment, behavior, and adult and community living. In this context, it extends to issues related to family support, the efficacy of service delivery systems, and demographic analyses of the autism community.

New England Center for Children (NECC)

The New England Center for Children is a private, nonprofit autism research and education center dedicated to transforming the lives of children with autism worldwide through education, research, and technology. NECC strives to be a global leader in the provision of effective, evidence-based educational services for the millions of under-served children with autism and their families.

Patient-Centered Outcomes Research Institute (PCORI)

PCORI helps people make informed healthcare decisions and improves healthcare delivery and outcomes by producing and promoting high-integrity, evidence-based information that comes from research guided by patients, caregivers, and the broader healthcare community.

Simons Foundation (SF) /Simons Foundation Autism Research Initiative (SFARI)

The mission of SF is to advance the frontiers of research in mathematics and the basic sciences. SF’s single largest initiative is the Simons Foundation Autism Research Initiative (SFARI), which seeks to improve the diagnosis and treatment of ASD by funding, catalyzing, and driving innovative research of the greatest quality and relevance. The SF ASD portfolio includes research on genetic and cellular factors underlying autism, identification of genetic and environmental risk factors, and development of potential treatments. SFARI supports SPARK, a large autism research project aimed at collecting medical and genetic information from individuals with autism and their family in an effort to increase the power of autism research for knowledge.

Appendix B

ASD-Related Research Projects not included in the IACC Portfolio Analysis

This section contains lists of projects that are not specifically focused on autism, but may be helpful in understanding the broader landscape of ongoing research on disabilities and other topics that may be relevant to autism.

Funder	Principal Investigator(s)	Project Title
Funder PCORI	Principal Investigator(s) Christopher B. Forrest, MD, PhD	Project Title Development of the PROMIS Pediatric Sleep Health Item Banks
Funder PCORI	Principal Investigator(s) dosReis, Susan	Project Title Methods for Prioritizing Surrogate Desired Health Outcomes for Patients
Funder PCORI	Principal Investigator(s) O'Boyle, Megan	Project Title Phelan-McDermid Syndrome Data Network (PMS_DN)
Funder PCORI	Principal Investigator(s) Walsh, Kathleen MD	Project Title Automating Quality and Safety Benchmarking for Children: Meeting the Needs of Health Systems and Patients
Funder EPA	Principal Investigator(s) Alshawabkeh, Akram	Project Title Center for Research on Early Childhood Exposure and Development in Puerto Rico
Funder EPA	Principal Investigator(s) Bennett, Deborah H.	Project Title Tracking Semivolatile Organic Compounds Indoors: Merging Models and Field Sampling to Access Concentrations, Emissions, and Exposures
Funder EPA	Principal Investigator(s) McConnell, Rob Scot	Project Title Southern California Children's Environmental Health Center
Funder EPA	Principal Investigator(s) Kullman, Seth W.; Levin, Edward D.; Slot-kin, Theodore	Project Title Establishing an AOP for the Role of the Vitamin D Receptor in Developmental Neurotoxicity
Funder EPA	Principal Investigator(s) Karagas, Margaret Rita	Project Title Children's Environmental Health & Disease Prevention Research Center at Dartmouth
Funder EPA	Principal Investigator(s) Woodruff, Tracey J.	Project Title The UCSF Pregnancy Exposures to Environmental Chemicals (PEEC) Children's Center
Funder EPA	Principal Investigator(s) Van de Water, Judith	Project Title The UC Davis Center for Children's Environmental Health and Disease Prevention
Funder EPA	Principal Investigator(s) Murphy, Susan K.	Project Title Neurodevelopment and Improving Children's Health following EtS exposure (NICHES)
Funder EPA	Principal Investigator(s) Peterson, Karen E.	Project Title Lifecourse Exposures & Diet: Epigenetics, Maturation & Metabolic Syndrome
Funder EPA	Principal Investigator(s) Schantz, Susan L.	Project Title Novel Methods to Assess the Effects of Chemicals on Child Development
Funder SAMHSA	Principal Investigator(s) Oppenheim, Jennifer	Project Title Project LAUNCH Grant Program
Funder SAMHSA	Principal Investigator(s) Donato, Ingrid	Project Title Project Advancing Wellness and Resilience Education (AWARE)
Funder SAMHSA	Principal Investigator(s) Donato, Ingrid	Project Title KnowBullying App
Funder SAMHSA	Principal Investigator(s) Robinson, Captain Maryann	Project Title National Chirl Traumatic Stress Initiative (NCTSI) - LIJ Medical Center of Northwell Health
Funder SAMHSA	Principal Investigator(s) Blau, Gary	Project Title Comprehensive Community Mental Health Services for Children and Their Families (CMHI)
Funder SAMHSA	Principal Investigator(s) Johnson, Kimberly	Project Title Behavioral Health Treatment Locator
Funder NIH	Principal Investigator(s) Thompson, Paul	Project Title Enigma Center for Worldwide Medicine, Imaging & Genomics
Funder NIH	Principal Investigator(s) Brueckner, Martina	Project Title Genetics and Genomics of Congenital Heart Disease and Associated Neurodevelopmental Abnormalities
Funder NIH	Principal Investigator(s) Newburger, Jane W.	Project Title The Genomic Basis of Congenital Heart Disease and Neurodevelopmental Outcomes
Funder NIH	Principal Investigator(s) Srivastava, Deepak	Project Title Genetics of Hypoplastic Left Heart Syndrome
Funder NIH	Principal Investigator(s) Tristani-Firouzi, Martin	Project Title Bridging the Gap Between Genomics and Clinical Outcomes in CHD
Funder NIH	Principal Investigator(s) Lander, Eric S	Project Title Center for Common Disease Genetics
Funder NIH	Principal Investigator(s) Darnell, Robert B.	Project Title New York Center for Collaborative Research in Common Disease Genomics
Funder NIH	Principal Investigator(s) Cobrinik, David	Project Title Modeling Optic Nerve Hypoplasia with Patient iPSC-Derived Retinal Ganglion Cells
Funder NIH	Principal Investigator(s) Hodzic, Didier	Project Title Nuclear Dynamics in Retinal Development and Homeostasis
Funder NIH	Principal Investigator(s) Brown, Nadean L.	Project Title Investigation of Mammalian Retinal Neuron Development
Funder NIH	Principal Investigator(s) Feldheim, David A.	Project Title Development of retinal ganglion cell types
Funder NIH	Principal Investigator(s) Binkley, Catherine J.	Project Title Oral Health Promotion (OHPROM) Strategy for Persons with Intellectual & Developmental Disabilities
Funder NIH	Principal Investigator(s) Usdin, Karen P.	Project Title The Consequences of Repeat Expansion in the Fragile X-Related Disorders
Funder NIH	Principal Investigator(s) Usdin, Karen P.	Project Title Mechanism of Repeat Expansion and Chromosome Fragility in Fragile X Syndrome
Funder NIH	Principal Investigator(s) Yang, Wei	Project Title Brain-Lesioned Patient Database Core
Funder NIH	Principal Investigator(s) Gusella, James F.	Project Title Neurodevelopmental Loci
Funder NIH	Principal Investigator(s) Troyanskaya, Olga	Project Title Integration and Visualization of Diverse Biological Data
Funder NIH	Principal Investigator(s) Hagerman, Paul J.	Project Title Epigenetic Regulation of the FMR1 Gene
Funder NIH	Principal Investigator(s) Wilcox, Allen J.	Project Title Epidemiologic Study Of Reproductive Outcomes And Environmental Exposures
Funder NIH	Principal Investigator(s) Lein, Pamela J.	Project Title Molecular and Cellular Basis of PCB Developmental Neurotoxicity
Funder NIH	Principal Investigator(s) Alshawabkeh, Akram N.	Project Title Environmental Influences on Child Health Outcomes in Puerto Rico (ECHO-PRO)
Funder NIH	Principal Investigator(s) Vena, John Edward	Project Title Exposome Contributors to Child Health Originating from National Fetal Growth Study (ECCHO-NFGS)
Funder NIH	Principal Investigator(s) Dennery, Phyllis A.	Project Title Rhode Island Child Clinical Trials Collaborative
Funder NIH	Principal Investigator(s) Sullivan, Janice E.	Project Title The Kentucky Pediatric Clinical Trials Rural/Urban Partnership
Funder NIH	Principal Investigator(s) O'Shea, Michael	Project Title Environment, Epigenetics, Neurodevelopment & Health of Extremely Preterm Children
Funder NIH	Principal Investigator(s) Dunlop, Anne Lang	Project Title The Impact of the Intrauterine and Early Child-hood Environments on Neurocognitive and Met-abolic Development in African American Youth: Focus on the Gut-Brain Axis
Funder NIH	Principal Investigator(s) Zhu, Lin L.	Project Title Using fMRI to Understand Verbal and Nonverbal Human Communication
Funder NIH	Principal Investigator(s) Alberts, Jeffrey R.	Project Title Mother-Offspring Microbiome as Perinatal Substrate for Neurobehavioral Development
Funder NIH	Principal Investigator(s) Gros-Louis, Julie J.	Project Title Caregiver Response Styles and Infant Attention: Relations to Language Development
Funder NIH	Principal Investigator(s) Porter, Forbes	Project Title Inborn Errors of Cholesterol Synthesis
Funder NIH	Principal Investigator(s) Guralnick, Michael J.	Project Title Intellectual and Developmental Disabilities Research Center
Funder NIH	Principal Investigator(s) Gilmore, John H.	Project Title Early Brain Development in One and Two Year Olds
Funder NIH	Principal Investigator(s) Portera-Cailliau, Carlos	Project Title Imaging dendritic spine abnormalities and circuit defects in fragile X mice
Funder NIH	Principal Investigator(s) Lester, Barry M.	Project Title Neonatal Neurobehavior and Outcomes in Very Preterm Infants
Funder NIH	Principal Investigator(s) Yuan, Hongjie	Project Title NMDAR Mutations & Neurodevelopmental Disorder: from Mechanism to Targeted Therapy
Funder NIH	Principal Investigator(s) Johnson, Scott P.	Project Title Social Attention in Infancy
Funder NIH	Principal Investigator(s) Chen, Lu	Project Title Developmental Pathophysiology of Synapses in a Mouse Model of Fragile X Syndrome
Funder NIH	Principal Investigator(s) Chin, Frederick T.	Project Title Cross-Species Multi-Modal Neuroimaging to Investigate GABA Physiology in Fragile X Syndrome
Funder NIH	Principal Investigator(s) Darnell, Jennifer C.	Project Title Cell-Specific RNA Targets of the Fragile X Mental Retardation Protein Family
Funder NIH	Principal Investigator(s) Donnelly, Joseph E.	Project Title Weight Management for Adolescents With IDD
Funder NIH	Principal Investigator(s) Hagerman, Paul J.	Project Title Expression of the Fragile X Gene
Funder NIH	Principal Investigator(s) Houser, Carolyn R.	Project Title GABA System Alterations and Fragile X Syndrome
Funder NIH	Principal Investigator(s) Huber, Kimberly	Project Title Mechanisms of Neocortical and Sensory Hyperexcitability in Fragile X Syndrome
Funder NIH	Principal Investigator(s) Huber, Kimberly	Project Title Molecular and Synaptic Mechanisms of Auditory Circuit Dysfunction in FXS Mice
Funder NIH	Principal Investigator(s) Huber, Kimberly	Project Title Auditory Processing Deficits in Fmr1 KO Mice
Funder NIH	Principal Investigator(s) Huber, Kimberly	Project Title Neurophysiological and Acute Pharmacological Stud-ies in FXS Patients
Funder NIH	Principal Investigator(s) Lipton, Jonathan Oren	Project Title Sleep and Circadian Rhythms in Tuberous Sclerosis Complex
Funder NIH	Principal Investigator(s) Mailick, Marsha Ruth	Project Title Fmr1 Premutation Phenotypes in Population-Based & Clinically- Ascertained Samples
Funder NIH	Principal Investigator(s) Mandel, Gail	Project Title The Mechanism of Rett Syndrome Rescue by Astrocytes
Funder NIH	Principal Investigator(s) Percy, Alan Kenneth	Project Title Rett Syndrome; MECP2 Duplications; and Rett-Related Disorders Natural History
Funder NIH	Principal Investigator(s) Percy, Alan Kenneth	Project Title MECP2 Duplication Syndrome: Longitudinal Studies; Biomarker and Clincial Outcome Development
Funder NIH	Principal Investigator(s) Percy, Alan Kenneth	Project Title Rett-Related Disorders: Longitudinal Studies; Biomarker and Clinical Outcome Development
Funder NIH	Principal Investigator(s) Percy, Alan Kenneth	Project Title Development of a Behavioral Outcome Measure for Rett Syndrome (RettBe) and Metabolic Profiling of Rett Syndrome; Mecp2 Duplication Syndrome; and Rett-Related Disorders
Funder NIH	Principal Investigator(s) Richter, Joel D.	Project Title Rescuing the Fragile X Syndrome by CPEB Depletion
Funder NIH	Principal Investigator(s) Richter, Joel D.	Project Title Strategies to Rescue PI3K Dysregulation in Fragile X Syndrome
Funder NIH	Principal Investigator(s) Richter, Joel D.	Project Title Rescuing Fragile X Syndrome by Targeting P70 S6 Kinase 1
Funder NIH	Principal Investigator(s) Abbeduto, Leonard	Project Title Expressive Language Sampling as an Outcome Measure
Funder NIH	Principal Investigator(s) Johnson, Scott	Project Title Constraints on Visual Statistical Learning in Infancy
Funder NIH	Principal Investigator(s) Snider, William D.	Project Title Imaging Core NINDS Institutional Center Core Grants to Support Neuroscience Res
Funder NIH	Principal Investigator(s) Boyden, Edward S.	Project Title Millisecond-Timescale Whole-Brain Neural Activity Mapping in Health and Disease
Funder NIH	Principal Investigator(s) Ladt, Kelsey Curd	Project Title Dissecting the Microarchitecture and Dynamics of Axonal Actin
Funder NIH	Principal Investigator(s) Dobyns, William	Project Title The genetic basis of Dandy-Walker and other mid-hindbrain malformations
Funder NIH	Principal Investigator(s) Iwase, Shigeki	Project Title Neutralizing epigenomes in neurodevelopment disorders
Funder NIH	Principal Investigator(s) Macdonald, Robert	Project Title GABA(A) Receptor Assembly/Trafficking/Function and Epilepsy Missense Mutations
Funder NIH	Principal Investigator(s) Sherr, Elliott	Project Title ACC: Callosal Agenesis as a Window into Common Neurodevelopmental Disorders
Funder NIH	Principal Investigator(s) Hauswirth, Anna	Project Title Characterization of Class II PI3-kinase as a homeostatic synaptic plasticity gene
Funder NIH	Principal Investigator(s) Cherra, Salvatore	Project Title Understanding the molecular mechanisms that maintain excitationinhibition balance in neural circuits
Funder NIH	Principal Investigator(s) Saldate, Johnny	Project Title Post-translational modifications of tomosyn and synaptic plasticity
Funder NIH	Principal Investigator(s) Tolias, Kimberly	Project Title Signaling Mechanisms Regulating Rac-dependent Synaptic and Dendritic Development
Funder NIH	Principal Investigator(s) Sagerstrom, Charles	Project Title Molecular Analysis of Hindbrain Development
Funder NIH	Principal Investigator(s) Masino, Susan	Project Title Fifth Global Symposium on Ketogenic Therapies
Funder NIH	Principal Investigator(s) Nelson, Sacha	Project Title Homeostatic Regulation of Neocortical Inhibition

Appendix C

Subcategory Definitions

Diagnostic and screening tools

This subcategory includes projects that are developing new autism diagnostic and screening tests, as well as those establishing the usefulness of new or revised assessments for autism symptoms. It also encompasses projects aimed at adapting clinical assessments into other languages for use in multi-lingual community settings and non-U.S. countries.

Early signs and biomarkers

Projects which use a variety of methods to search for signs of autism in very young children (generally under age 3) that could be used for diagnosis, such as eye-tracking, physiological measures, and autism-specific behavioral patterns are included in this subcategory. More examples include projects investigating metabolic measures, such as the levels of specific chemicals, hormones, or proteins in the blood that could be used as biomarkers of the disorder.

Intermediate phenotypes/Subgroups

Included in this subcategory are projects aimed at identifying distinct subgroups of people with autism, or those that share common morphological, physiological, or behavioral features. Projects in this subcategory use a variety of methods to identify and distinguish these groups.

Symptomology

These projects seek to define the broad range and severity of autism symptoms, including both biological and behavioral characteristics. Among these studies are some that examine how children and adults with autism vary in their development of social communication and language. Other projects seek to understand the emergence of problem behaviors and how neurocognitive impairments can contribute to symptom development and phenotypic variability in those with an autism diagnosis.

Cognitive studies

These are studies of psychological and mental processes, including memory, producing and understanding language, solving problems, and making decisions. Projects in this subcategory consist of those that investigate theory of mind, social cognition and empathy, understanding facial expressions of emotion (and how and why this is impaired in ASD), and recall and memory.

Computational science

Computational methods and modeling allow for the synthesis and study of large and complex sets of data. Some projects in this subcategory collect extensive experimental biological and behavioral data and use powerful computing techniques to reveal new insights. Other aspects of computer science are also included, such as developing statistical modeling techniques to better understand the biology of autism.

Co-occurring conditions

Research on conditions that often co-occur with ASD is included here, such as seizures/epilepsy, sleep disorders, gastrointestinal dysfunction, wandering/ elopement behavior, attention deficit hyperactivity disorder (ADHD), and familial autoimmune disorders.

Developmental trajectory

Projects in this subcategory often include longitudinal studies following various aspects of biological and behavioral development in the same individuals over time. Examples include brain growth, face processing, change in neural connectivity over time, and development of communication skills and language processing. These studies often compare children with ASD to typically developing children or to their unaffected siblings.

Immune/Metabolic pathways

These projects focus on understanding the biological mechanisms of metabolism and the immune system that may be altered in autism, typically in cells and animal models. This largely includes studies on inflammation and inflammatory molecules (i.e., cytokines), as well as on the role of mitochondria, energy metabolism, and oxidative stress. Also included in this group are projects seeking to identify specific immune and metabolic triggers in early prenatal and post-natal life, such as maternal infection, maternal auto-antibodies, and toxic exposures.

Molecular pathways

This subcategory includes studies on specific molecules and proteins (other than the immune and metabolic systems) that may be involved in the development of ASD and related genetic disorders (e.g., fragile X syndrome and Rett syndrome). Many of these projects use animal and cellular models to explore the biological effects of specific candidate genes and to identify common molecular pathways, including alterations in synaptic functioning and intracellular signaling cascades.

Neural systems

Studies in this subcategory explore the structure and activity of the brain and underlying neural systems involved in autism, including functional connections between brain regions. Many projects seek to identify the precise neural networks underlying communication and language processing, social interactions, and behavioral issues. These studies frequently employ imaging techniques, such as functional magnetic resonance imaging (fMRI) and diffusion tensor imaging (DTI), and other physiological measures of brain activity, such as electroencephalography (EEG).

Neuropathology

These projects typically include post-mortem examination of brain tissue from ASD individuals. Many of the studies in this subcategory explore how the architecture of the brain may be altered in individuals with autism or how gene expression varies in different areas of the brain.

Sensory and motor function

Projects in this subcategory explore the neural underpinnings of motor skills and abilities in children with ASD and assess visual, auditory, and other sensory processes in the brain.

Subgroups/Biosignatures

Because there is so much heterogeneity among individuals with autism, research to understand how certain subgroups of individuals that share certain behavioral or biological characteristics could help understand some of the underlying biology in ASD. This can be done by searching for certain biological factors (“signatures”), such as hormone levels or structural abnormalities in the brain, that define a particular subgroup. Many of these projects try to make the connection between certain genes with a known or suspected link to autism and the observable characteristic, or phenotype, that they cause.

Environmental Risk factors

This subcategory includes a number of projects investigating potential environmental risk factors for autism. Example projects include studies of the effects of the microbiome, environmental contaminants and toxins, maternal dietary factors, medications taken during pregnancy or to induce labor, assistive reproductive treatments, child and maternal response to immune challenge, and registries where many of these factors can be tracked simultaneously.

Epigenetics

Epigenetics is the study of heritable changes in gene function that occur without a change in the DNA se- quence (such as methylation of DNA). Environmental factors can cause these changes in gene expression, and projects in this subcategory seek to identify some of the environmental influences that may lead to these epigen- etic changes.

Gene-Environment

These studies include efforts to identify and understand the contributions of environmental factors, genetic susceptibility, and human physiology (e.g., the immune system, metabolic processes) that may increase the risk for ASD, as well as studies that directly examine gene-environment interactions. (Note: While epigenetic studies are a subset of gene-environment studies, they are tracked as a separate subcategory because there is a substantial number of these projects and the topic of epigenetics is of significant public interest.)

Genetic risk factors

Projects in this subcategory seek to identify new genes that are implicated in increased risk for ASD or to better understand genetic risk factors that were previously identified.

Behavioral

Projects in this subcategory involve a wide array of behavioral research and training methods, including applied behavior analysis (ABA), cognitive-behavioral therapy, discrete trial training, Early Start Denver Model, imitation training, joint attention training, Lovaas method, pivotal response training, sibling-mediated interventions, and social skills training.

Complementary, dietary, and alternative

This subcategory includes research on acupressure; acupuncture; antioxidants; cholesterol supplementation; glutathione metabolism; nutritional supplements, vitamins, and minerals; probiotics; and special diets (e.g., gluten-free, casein-free).

Educational

Nearly all research in classroom settings falls under this subcategory, including curricula, educational best practices, inclusive education programs, math and reading training, positive behavioral supports, special education programs, TEACCH (Treatment and Education of Autistic and Related Communication-Handicapped Children), and the “Social Stories” approach.

Medical/Pharmacologic

This subcategory includes research on drugs (e.g., antidepressants, anticonvulsants, antipsychotics, anxiolytics, melatonin, and stimulants) to treat autism and its co-occurring conditions, as well as medical therapies such as transcranial magnetic stimulation (TMS).

Model systems/Therapeutic targets

Animal models mimicking behaviors of ASD and those that are being used to develop or test new drug treatments, as well as cell lines used to discover new drug targets or to screen potential drug candidates, are included in this subcategory.

Occupational, physical, and sensory-based

Therapies in this subcategory encompass art therapy, motor training (including fine motor skills such as handwriting as well as gross motor training involving balance and posture), music therapy, occupational therapy, pet (animal) therapy, physical activity plans and exercise therapy (bike riding, swimming), physical therapy, sensory integration, therapeutic horseback riding, training in self-care and daily living skills, and vocational rehabilitation.

Technology-based interventions and supports

Augmentative and alternative communication (AAC), computer applications and software, picture exchange communication system (PECS), social robots, teleconferencing, video modeling and virtual reality (including virtual and 3D environments to mimic social situations), and wearable sensors are all examples of the types of technology in the projects in this subcategory.

Community inclusion programs

These programs provide instruction in social, communication, and leisure skills to enable individuals with autism to participate in sports, recreation, and social-integration activities in fully integrated settings and to build successful relationships with others.

Efficacious and cost-effective service delivery

Efficacious and cost-effective service delivery This subcategory includes programs involving web-based curricula and interventions as well as telehealth methodology, all of which could benefit those in underserved areas. Various parent training projects (to deliver a behavioral therapy, for example) using web-based methods such as teleconsultation and video feedback make distributing the training programs cost-effective and accessible across the country. Studies to improve dental care are also in this subcategory for effective service delivery.

Family well-being and safety

Studies in this subcategory evaluate issues of caregiver stress and measures of quality of life for individuals with ASD and their families, as well as assess programs to help parents navigate the service system after their child receives an ASD diagnosis. It also surveys safety issues for those with autism, including wandering and bullying.

Practitioner training

Projects in this subcategory seek to increase skill levels in service providers, including medical providers, direct support workers, parents and legal guardians, education staff, and public service workers.

Services utilization and access

These projects include surveys of service systems available in different States, evaluations of patterns of medical service use among children with autism, a comprehensive online resource for autism services, and specific efforts in several states to coordinate services for people with autism. They also evaluate disparities in diagnosis and service utilization as well as barriers to access for racial and ethnic minorities

Infrastructure And Surveillance

Due to the small number of projects (48) and the significant overlap between topics covered in these projects, no subcategories were created for this question in the 2016 Portfolio Analysis Report. As the research field grows, subcategories that encapsulate the scope of projects in this question may be defined in the future.

Biobanks

A biobank is a type of biorepository which stores human biological samples for use in research. Projects in this subcategory support collection of DNA and tissue samples from autism patients.

Data tools

These projects include bioinformatics databases to store genetic, phenotypic, and other medical information from autism patients. They also support infrastructure for several of these major databases to interact and dissemination of data to the community and stakeholders.

Research infrastructure

This subcategory includes coordinating centers that support multiple research projects by running tests, analyzing data, providing statistical analyses, and the dissemination of research to the community. These projects also support facilities that operate large, shared instruments used by several scientists to test research samples.

Research recruitment and clinical care

Projects in this subcategory help increase participation in research studies and conduct medical evaluations for the participants, often collecting data that can be used for multiple studies.

Research workforce development

Workshops, conferences, and training programs that serve to expand the research workforce, enhance interdisciplinary research training, and recruit early-career scientists into the ASD field are included in this subcategory.

Surveillance and prevalence studies

Research that measures autism prevalence in the U.S. and internationally is contained in this subcategory, including the Autism and Developmental Disabilities Monitoring (ADDM) Network sites maintained by the Centers for Disease Control and Prevention (CDC).

About the IACC

The Interagency Autism Coordinating Committee (IACC) is a federal advisory committee charged with coordinating federal activities concerning autism spectrum disorder (ASD) and providing advice to the Secretary of Health and Human Services (HHS) on issues related to autism. The Committee was established by Congress under the Children's Health Act of 2000, reconstituted under the Combating Autism Act (CAA) of 2006, and renewed most recently under the Autism Collaboration, Accountability, Research, Education, and Support (CARES) Act of 2014.

Membership of the Committee includes a wide array of federal agencies involved in ASD research and services, as well as public stakeholders, including self-advocates, family members of children and adults with ASD, advocates, service providers, and researchers, who represent a variety of perspectives from within the autism community. The IACC membership is composed to ensure that the Committee is equipped to address the wide range of issues and challenges faced by individuals and families affected by autism.

Under the CAA and subsequent authorizations, 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.

Through these and other activities, the IACC provides guidance to HHS and partners with other federal departments, federal agencies, research and advocacy organizations, and the broader autism community to accelerate research and enhance services with the goal of profoundly improving the lives of people with ASD and their families.

For more information about the IACC, see https://iacc.hhs.gov.

Interagency Autism Coordinating Committee Member Roster

Chair

Federal Members

Public Members

Office of Autism Research Coordination Staff

Cover Design
Medical Arts Branch, Office of Research Services, National Institutes of Health

Copyright Information
All material appearing in this report is in the public domain and may be reproduced or copied. A suggested citation follows.

Suggested Citation
Office of Autism Research Coordination, National Institute of Mental Health, on behalf of the Interagency Autism Coordinating Committee (IACC). 2016 IACC Autism Spectrum Disorder Research Portfolio Analysis Report. January 2019. Retrieved from the U.S. Department of Health and Human Services Interagency Autism Coordinating Committee website: https://iacc.hhs.gov/publications/portfolio-analysis/2016/.