Appendix A

Federal Agency and Private Organization Mission Statements

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

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, 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)

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. 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.

The U.S. Air Force (DOD-AF) also funds research on ASD, and is developing a multidisciplinary autism research and services program for military families, part of which involves the creation of a comprehensive registry to provide higher quality data for autism clinical and genetics research.

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.

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 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, 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 newbehavioral 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, andtechnology. 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.

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	Weblink / Project Description
Funder NECC	Principal Investigator(s) Chata Dickson, Jackie MacDonald, Kelly McConnell	Project Title Evaluating the performance of typically developing children on the New England Center for Children's Core Skills Assessment	Weblink / Project Description The purpose of this study was to evaluate the performance of typically developing children on the NECC Core Skills Assessment (CSA). These results will provide a normative reference to those looking to teach skills to young children diagnosed with autism.
Funder NECC	Principal Investigator(s) Chata Dickson, Kim Walter	Project Title Effects of task difficulty on behavioral resurgence	Weblink / Project Description In this translational study of effects of task difficulty on resurgence, we evaluated rate of responding following reinforcement and extinction of two different responses. This study will be replicated with individuals with autism serving as participants.
Funder ACL	Principal Investigator(s) Thomas Keating, PhD	Project Title MyLife: Development of a Cloud-Based Transition ePortfolio for Individuals with Cognitive Disabilities	Weblink / Project Description http://www.naric.com/?q=ProgramDatabase
Funder ACL	Principal Investigator(s) Sandra M. Magaña, PhD, Tamar Heller, PhD, Joe Caldwell, PhD	Project Title Rehabilitation Research and Training, Center (RRTC) on Family Support	Weblink / Project Description http://www.naric.com/?q=ProgramDatabase
Funder ACL	Principal Investigator(s) Daniel K. Davies	Project Title Mobile Connect: A Cloud-Based, Universally Designed Text Messaging and Email Program to Facilitate Social Connectedness and Community Inclusion for Individuals with Intellectual Disabilities	Weblink / Project Description http://www.naric.com/?q=ProgramDatabase
Funder HRSA	Principal Investigator(s) Stephen Sulkes	Project Title Leadership Education in Neurodevelopmental and Related Disabilities (LEND)	Weblink / Project Description https://mchdata.hrsa.gov/dgisreports/Abstract/AbstractDetails.aspx?cbAbstractSummary=T73MC00029_2015_NonResearch_4
Funder NIH	Principal Investigator(s) Didier Hodzic	Project Title Nuclear Dynamics in Retinal Development Homeostasis	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?aid=8826128&icde=29944362&ddparam=&ddvalue=&ddsub-=&cr=1&csb=default&cs=ASC
Funder NIH	Principal Investigator(s) David Cobrinik	Project Title Modeling Optic Nerve Hypoplasia with Patient iPSCDerived Retinal Ganglion Cells	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=5R21EY025419-02
Funder NIH	Principal Investigator(s) Martina Brueckner	Project Title Genetics and Genomics of Congenital Heart Diseases and Associated Neurodevelopmental Abnormalities	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?aid=8952979
Funder NIH	Principal Investigator(s) Jane W. Newburger	Project Title The Genomic Basis of Congenital Heart Disease and Neurodevelopmental Outcomes	Weblink / Project Description http://projectreporter.nih.gov/project_info_description.cfm?aid=8952616
Funder NIH	Principal Investigator(s) Deepak Srivastava	Project Title Genetics of Hypoplastic Left Heart Syndrome	Weblink / Project Description http://projectreporter.nih.gov/project_info_description.cfm?aid=8952652
Funder NIH	Principal Investigator(s) Martin Tristani-Firouzi	Project Title Bridging the Gap Between Genomics and Clinical Outcomes in CHD	Weblink / Project Description http://projectreporter.nih.gov/project_info_description.cfm?aid=8950472
Funder NIH	Principal Investigator(s) Paul Thompson	Project Title ENIGMA Center for Worldwide Medicine, Imaging & Genomics - Adminstrative	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?aid=8935792&icde=0
Funder NIH	Principal Investigator(s) Paul Thompson	Project Title ENIGMA Center for Worldwide Medicine, Imaging & Genomics - Consortium Activities	Weblink / Project Description http://projectreporter.nih.gov/project_info_description.cfm?projectnumber=5U54EB020403-02
Funder NIH	Principal Investigator(s) Paul Thompson	Project Title ENIGMA Center for Worldwide Medicine, Imaging & Genomics - Data Science research	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?aid=8935792&icde=0
Funder NIH	Principal Investigator(s) Paul Thompson	Project Title ENIGMA Center for Worldwide Medicine, Imaging & Genomics - Training	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?aid=8935792&icde=0
Funder NIH	Principal Investigator(s) Marji Warfield	Project Title The impact of parental military deployment on children with disabilities	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?aid=8881255&icde=0
Funder NIH	Principal Investigator(s) Michael Guralnick	Project Title Intellectual and Developmental Disabilities Research Center	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=5U54HD083091-02
Funder NIH	Principal Investigator(s) Gail Mandel	Project Title The Mechanism of Rett Syndrome Rescue by Astrocytes	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=1R01HD081037-01A1
Funder NIH	Principal Investigator(s) Gary J. Latham	Project Title Development of a Reliable and Standardized Molecular Assay for Fragile X Protein	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=1R43HD082900-01A1
Funder NIH	Principal Investigator(s) Marsha Ruth Mailick	Project Title FMRI1 Premutation Phenotypes in Population-Based & Clinically-Ascertained Samples	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=1R01HD082110-01A1
Funder NIH	Principal Investigator(s) Joseph E. Donnelly	Project Title Weight Management for Adolescents with IDD	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=1R01HD079642-01A1%5C
Funder NIH	Principal Investigator(s) Hongjie Yuan	Project Title NMDAR Mutations & Neurodevelopmental Disorder: From Mechanism to Targeted Therapy	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=1R01HD082373-01
Funder NIH	Principal Investigator(s) Jonathan Oren Lipton	Project Title Sleep and Circadian Rhythms in Tuberous Sclerosis Complex	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=5K08HD071026-04
Funder NIH	Principal Investigator(s) Jennifer C. Darnell	Project Title Cell-specific RNA Targets of the Fragile X Mental Retardation Protein Family	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=5R01HD040647-12
Funder NIH	Principal Investigator(s) Paul J Hagerman	Project Title Expression of the Fragile X Gene	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=5R01HD040661-13
Funder NIH	Principal Investigator(s) Carlos Portera-Cailliau	Project Title Imaging Dendritic Spine Abnormalities and Circuit Defects in Fragile X Mice	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=5R01HD054453-07
Funder NIH	Principal Investigator(s) Lee-Way Jin	Project Title The Role of Astrocytes in Rett Syndrome	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=5R01HD064817-05
Funder NIH	Principal Investigator(s) Carolyn R Houser	Project Title GABA System Alterations and Fragile X Syndrome	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=5R01HD067225-04
Funder NIH	Principal Investigator(s) Frederick T Chin	Project Title Cross-Species Multi-Modal Neuroimaging to Investigate GABA Physiology in Fragile X Syndrome	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=5R01HD084214-02
Funder NIH	Principal Investigator(s) Lu Chen	Project Title Developmental Pathophysiology of Synapses in a Mouse Model of Fragile X Syndrome	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=5R01HD084215-02
Funder NIH	Principal Investigator(s) Alan Kenneth Percy	Project Title Rett Syndrome; MECP2 Duplications; And Rett-Related Disorders Natural History	Weblink / Project Description http://projectreporter.nih.gov/project_info_description.cfm?projectnumber=5U54HD061222-12
Funder NIH	Principal Investigator(s) Alan Kenneth Percy	Project Title MECP2 Duplication Syndrome: Longitudinal Studies; Biomarker and Clinical Outcome Development	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=5U54HD061222-12
Funder NIH	Principal Investigator(s) Alan Kenneth Percy	Project Title Rett-Related Disorders: Longitudinal Studies; Biomarker and Clinical Outcome Development	Weblink / Project Description http://projectreporter.nih.gov/project_info_description.cfm?projectnumber=5U54HD061222-12
Funder NIH	Principal Investigator(s) Alan Kenneth Percy	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	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=5U54HD061222-12
Funder NIH	Principal Investigator(s) Kimberly Huber	Project Title Mechanisms of Neocortical and Sensory Hyperexcitability in Fragile X Syndrome	Weblink / Project Description http://projectreporter.nih.gov/project_info_description.cfm?projectnumber=5U54HD082008-02
Funder NIH	Principal Investigator(s) Kimberly Huber	Project Title Molecular and Synaptic Mechanisms of Auditory Circuit Dysfunction in FXS Mice	Weblink / Project Description http://projectreporter.nih.gov/project_info_description.cfm?projectnumber=5U54HD082008-02
Funder NIH	Principal Investigator(s) Kimberly Huber	Project Title Auditory Processing Deficits in FMR1 KO Mice	Weblink / Project Description http://projectreporter.nih.gov/project_info_description.cfm?projectnumber=5U54HD082008-02
Funder NIH	Principal Investigator(s) Kimberly Huber	Project Title Neurophysiological and Acute Pharmacological Studies in FXS Patients	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=5U54HD082008-02
Funder NIH	Principal Investigator(s) Joel D. Richter	Project Title Rescuing the Fragile X Syndrome by CPEB Depletion	Weblink / Project Description http://projectreporter.nih.gov/project_info_description.cfm?projectnumber=5U54HD082013-02
Funder NIH	Principal Investigator(s) Joel D. Richter	Project Title Strategies to Rescue PI3K Dysregulation in Fragile X Syndrome	Weblink / Project Description http://projectreporter.nih.gov/project_info_description.cfm?projectnumber=5U54HD082013-02
Funder NIH	Principal Investigator(s) Joel D. Richter	Project Title Rescuing Fragile X Syndrome by Targeting P70 S6 Kinase 1	Weblink / Project Description http://projectreporter.nih.gov/project_info_description.cfm?projectnumber=5U54HD082013-02
Funder NIH	Principal Investigator(s) Susan Y Bookheimer	Project Title Intellectual and Developmental Disabilities Research Centers	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=5P30HD004612-44
Funder NIH	Principal Investigator(s) Jeffrey L. Neul	Project Title Characterization of Autonomic Dysfunction in Rett Syndrome & Other MECP2 Disorder	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=5R01HD062553-05
Funder NIH	Principal Investigator(s) Scott S. Hall	Project Title Understanding Severe Disruptive Behaviors in Adolescents with Fragile X Syndrome	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=5R21HD072282-02
Funder NIH	Principal Investigator(s) Lisa D. Marceau	Project Title Improving Pediatric Developmental Screening and Communication: A CME	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=5R44HD063173-03
Funder NIH	Principal Investigator(s) Leonard Abbeduto	Project Title Expressive Language Sampling as an Outcome Measure	Weblink / Project Description http://projectreporter.nih.gov/project_info_details.cfm?aid=8627630
Funder NIH	Principal Investigator(s) Mary Oschwald	Project Title Pregnancy and Support Services for Women with Developmental Disabilities	Weblink / Project Description http://projectreporter.nih.gov/project_info_details.cfm?aid=8700656
Funder NIH	Principal Investigator(s) Lin L. Zhu	Project Title Using FMRI to Understand Verbal and Nonverbal Human Communication	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=1F30DC014911-01A1
Funder NIH	Principal Investigator(s) Karen P. Usdin	Project Title Gene Silencing in Fragile X Syndrome	Weblink / Project Description http://projectreporter.nih.gov/project_info_description.cfm?projectnumber=1ZIADK057602-19
Funder NIH	Principal Investigator(s) Karen P. Usdin	Project Title Mechanism of Repeat Expansion and Chromosome Fragility in Fragile X Syndrome	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=1ZIADK057808-09
Funder NIH	Principal Investigator(s) Jane Yu	Project Title Prostaglandin Biosynthesis: A Novel Therapeutic Target in TSC Disorders	Weblink / Project Description http://projectreporter.nih.gov/project_info_description.cfm?projectnumber=7R01DK098331-02
Funder NIH	Principal Investigator(s) Carmen Joseph Marsit	Project Title Environment; Imprinting; and Neurodevelopment	Weblink / Project Description http://projectreporter.nih.gov/project_info_description.cfm?projectnumber=3R01ES022223-03S1
Funder NIH	Principal Investigator(s) Carmen Joseph Marsit	Project Title Environment; Imprinting; and Neurodevelopment	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=5R01ES022223-03
Funder NIH	Principal Investigator(s) Paul J. Hagerman	Project Title Epigenetic Regulation of the FMR1 Gene	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=1R01GM113929-01
Funder NIH	Principal Investigator(s) James F. Gusella	Project Title Neurodevelopmental Loci	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=2P01GM061354-11A1
Funder NIH	Principal Investigator(s) Olga, Troyanskaya	Project Title Integration and Visualization of Diverse Biological Data	Weblink / Project Description http://projectreporter.nih.gov/project_info_description.cfm?projectnumber=2R01GM071966-10A1
Funder NIH	Principal Investigator(s) Cynthia He	Project Title Linking Defects in Cortical Network Activity with Altered Sensory Perception in Fragile X Mice	Weblink / Project Description http://projectreporter.nih.gov/project_info_description.cfm?projectnumber=1F30NS093719-01
Funder NIH	Principal Investigator(s) Caitlyn M. Riedmann	Project Title Determination of the Epigenetic Regulation of Gene Transcription by MECP2 in Neurons	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=1F31NS092418-01A1
Funder NIH	Principal Investigator(s) Jimmy L. Holder	Project Title Rescuing Motor Deficits in Shank3 Related Disorders	Weblink / Project Description http://projectreporter.nih.gov/project_info_description.cfm?projectnumber=1K08NS091381-01A1
Funder NIH	Principal Investigator(s) Molly-Maureen Huntsman	Project Title Cortical Circuit Dysfunction in Fragile X Syndrome	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=1R01NS095311-01A1
Funder NIH	Principal Investigator(s) Michaela Fagiolini	Project Title VIisual circuit Regression and ITS Rescue in RTT Mouse Models	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=1R01NS095959-01A1
Funder NIH	Principal Investigator(s) Benjamin Deneen	Project Title The Nature of Astrocyte Heterogeneity in RTT	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=1R21NS089366-01A1
Funder NIH	Principal Investigator(s) Michael Wong	Project Title Mechanisms of Brain Dysfunction in Tuberous Sclerosis	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=2R01NS056872-09A1
Funder NIH	Principal Investigator(s) Huda Y. Zoghbi	Project Title Molecular Pathogenesis Studies of Rett Syndrome	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=5R01NS057819-10
Funder NIH	Principal Investigator(s) Scott H. Soderling	Project Title Fragile X Phenotypes Modulated by Altered Signaling to the Synaptic Cytoskeleton	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=5R01NS059957-07
Funder NIH	Principal Investigator(s) Zhaolan Zhou	Project Title Understanding the Pathogenic Mechanisms of Rett Syndrome	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=5R01NS081054-03
Funder NIH	Principal Investigator(s) Vitaly A. Klyachko	Project Title The Role of PK Channels in Neuropathology of Fragile X Syndrome	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=5R01NS089449-02
Funder NIH	Principal Investigator(s) Marl F. Bear	Project Title Validating a Novel Target for correction of Pathophysiology in Fragile X and TSC	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=5R21NS087225-02
Funder NIH	Principal Investigator(s) Samie R. Jaffrey	Project Title Testing the Role of Small RNAs in FMR1 Promotor Silencing in Fragile X Syndrome	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=5R21NS087859-02
Funder NIH	Principal Investigator(s) Kerstin Maria Ure	Project Title Rescue of Gabaergic Function in a Mouse Model of Rett Syndrome	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=1F32NS083137-01A1
Funder NIH	Principal Investigator(s) Peter K. Todd	Project Title Pathogenic Mechanisms in Fragile X Tremor Ataxia Syndrome	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=5K08NS069809-05
Funder NIH	Principal Investigator(s) Onanong Chivatakarn	Project Title Analysis of the Tumor Suppressor Gene TSC1 in Motor Neuron Patterning	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=5K99NS083758-02
Funder NIH	Principal Investigator(s) Peter K. Todd	Project Title CGG Repeat Associated Translation in Fragile X-Associated Tremor/Ataxia Syndrome-Diversity Supplement	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=3R01NS086810-01S1
Funder NIH	Principal Investigator(s) Robert Macdonald	Project Title GABA(A) Receptor Assembly/ Trafficking/Function and Epilepsy Missense Mutations	Weblink / Project Description http://projectreporter.nih.gov/project_info_description.cfm?projectnumber=5R01NS033300-20
Funder NIH	Principal Investigator(s) Michael Greenberg	Project Title Neuronal Activity-Dependent Regulation of MeCP2	Weblink / Project Description https://projectreporter.nih.gov/project_info_details.cfm?aid=8635394&icde=0
Funder NIH	Principal Investigator(s) Edward Cooper	Project Title KCNQ2 Epileptic Encephalopathy: Overcoming Hurdles to Effective Disease-Modifying Therapy	Weblink / Project Description https://projectreporter.nih.gov/project_info_description.cfm?projectnumber=1R13NS095592-01
Funder NIH	Principal Investigator(s) William Dobyns	Project Title The genetic basis of Dandy-Walker and other mid-hindbrain malformations	Weblink / Project Description http://projectreporter.nih.gov/project_info_description.cfm?projectnumber=2R01NS050375-11
Funder NIH	Principal Investigator(s) Shigeki Iwase	Project Title Neutralizing epigenomes in neurodevelopmental disorders	Weblink / Project Description http://projectreporter.nih.gov/project_info_description.cfm?projectnumber=1R01NS089896-01A1
Funder NIH	Principal Investigator(s) Elliott Sherr	Project Title ACC: Callosal Agenesis as a Window into Common Neurodevelopmental Disorders	Weblink / Project Description http://projectreporter.nih.gov/project_info_description.cfm?projectnumber=2R01NS058721-07A1
Funder PCORI	Principal Investigator(s) C. William Shuttleworth, PhD	Project Title Pathways to Partnership: Communication and Collaboration Skills for Creating PCOR Teams	Weblink / Project Description http://www.pcori.org/research-results/2015/pathways-partnership-communication-and-collaboration-skills-creating-pcor
Funder PCORI	Principal Investigator(s) Megan O'Boyle, BA	Project Title Phelan-McDermid Syndrome Data Network (PMS_DN)	Weblink / Project Description http://www.pcori.org/research-results/2015/phelan-mcdermid-syndrome-data-network-pmsdn
Funder PCORI	Principal Investigator(s) Geraldine Bliss, MS	Project Title Phelan-McDermid Syndrome Patient-Centered Outcomes Workshop	Weblink / Project Description http://www.pcori.org/research-results/2015/phelan-mcdermid-syndrome-patient-centered-outcomes-workshop
Funder PCORI	Principal Investigator(s) Kenneth D. Mandl, MD, MPH	Project Title Scalable Collaborative Infrastructure for a Learning Healthcare System (SCILHS)	Weblink / Project Description http://www.pcori.org/research-results/2015/scalable-collaborative-infrastructure-learning-healthcare-system-scilhs
Funder PCORI	Principal Investigator(s) Christopher B. Forrest, MD, PhD	Project Title Development of the PROMIS Pediatric Sleep Health Item Banks	Weblink / Project Description http://www.pcori.org/research-results/2014/development-promis-pediatric-sleep-health-item-banks

Appendix C

ASD Research Progress on IACC Strategic Plan Objectives: Summary of Years 2008-2015

The tables include data (project numbers and funding) from Federal and private funders of ASD research for years 2008 through 2015, as aligned with the objectives of the 2011 IACC Strategic Plan. Please note the following:

During the updating of the Strategic Plan from 2008-2010, the wording and numbering of objectives changed. Data included in each Portfolio Analysis Report from 2008-2015 was categorized at the time with respect to the most recent iteration of the Strategic Plan where the objectives had changed. For the purpose of this eight-year comparison, data from the Portfolio Analyses conducted in 2008 and 2009 were aligned with the most recent objectives, found in the 2011 Strategic Plan. The full wording of the 78 objectives listed in the 2011 Strategic Plan is depicted above the objective’s abbreviation and annual funding.

The middle eight columns of the table contain the data (project numbers and funding) for each individual year from 2008-2015, with the objective number (as it appeared in the annual Portfolio Analysis ) listed above it. The format of objective numbers are abbreviations representing the question number (indicated by a numeral 1-7), whether the objective is a short- or long-term objective (indicated by the letter “S” or “L”, respectively), and the objective designation (indicated by a letter). The IACC recommended budget listed below the project data represents the most updated budget listed in the 2011 Strategic Plan . If the recommended budget has been revised since 2008, the year the revision took place is found in parentheses following the budget figure. Therefore, if there is no mention of a revision, the IACC recommended budget has remained constant from 2008-2011. The annual project status for each objective from 2008-2015 is indicated within the table by colored highlighting of the objective number. An objective is considered active if its status is green or yellow, and inactive if its status is red.

• Any objective colored green has funding which is greater than or equal to the recommended funding for that year (determined by annualizing the recommended budget associated with that objective); any objective colored yellow has actively funded projects, but with funding that totals less than the annualized recommended amount; any objective colored red has no active, funded projects.³
• Objectives whose overarching aim (e.g., the ultimate goal of the research, irrespective of the number of projects or the budget for the objective) were achieved/partially achieved either in a previous year, with less annual funding than was recommended, or with funding that was not captured in the portfolio analyses⁴ are colored pale green/pale yellow.

The far right column of the table lists the sum of the total funding aligned with each objective from 2008-2015. Highlighting of each total gives an indication of the overall progress toward completing each objective.

• Green highlighting indicates that funding fully meets the recommend budget. Yellow highlighting denotes that funding for a particular objective partially meets the IACC recommended budget, while red highlighting indicates that there has been no funding towards the particular objective.
• Objectives whose overarching aim (e.g. the ultimate goal of the research, irrespective of the number of projects or the budget for the objective) was achieved/partially achieved either with a lower funding level than was recommended or with funding that was not captured in the portfolio analyses, are colored pale green/pale yellow.

³ Please note that while the green, yellow, and red indicators suggest a funding status for each year and that looking across all years may give some indication of a trend, some agencies and organizations provide all the funding for multiyear grants in a single year, resulting in the appearance of “less funding” in other years; projects completing the objectives may still have been ongoing in the years where the funding appears to be less. Thus, it is important to note the numbers of projects in looking across the chart, and to keep in mind that in a series, where, for example, most of the indicators are green, that the objective is likely to be largely “complete” according to the funding-based measure.

⁴ Reasons why funding for certain projects may not have been captured in the portfolio analyses include projects that were supported by funding that was not specific for autism (i.e., projects that benefited autism but were supported by general neuroscience or developmental disorder funding) or projects supported by funders that did not participate in the portfolio analysis in a given year.

Appendix D

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 sequence (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 epigenetic changes.

Gene-Environment

These 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

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.

Due to the small number of projects (35 in 2014 and 37 in 2015) and the significant overlap between topics covered in these projects, no subcategories were created for this question in the 2014-2015 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.

Research infrastructure

This subcategory includes coordinating centers that support multiple research projects by running tests, analyzing data, and providing statistical analyses. 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 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). 2014-2015 IACC Autism Spectrum Disorder Research Portfolio Analysis Report. October 2017. Retrieved from the U.S. Department of Health and Human Services Interagency Autism Coordinating Committee website: https://iacc.hhs.gov/publications/portfolio-analysis/2015/.