NICHD's autism spectrum disorder (ASD) research portfolio is spread throughout the Institute and includes extramural components that support research on ASD and other intellectual and developmental disabilities (IDDs). NICHD also conducts some autism-related research projects through its intramural program.
In addition, several extramural and intramural entities within NICHD sponsor or conduct research that is not autism-focused but that can inform our understanding of the developmental and molecular processes involved in autism pathophysiology. Some of these efforts are described below.
As one of the participants in the government-wide Interagency Autism Coordinating Committee (IACC), NICHD's support for autism research is structured around the seven question areas of IACC's strategic plan for autism research:
- Question 1: When Should I Be Concerned?
- Question 2: How Can I Understand What Is Happening?
- Question 3: What Caused This to Happen and Can It Be Prevented?
- Question 4: Which Treatments and Interventions Will Help?
- Question 5: Where Can I Turn for Services?
- Question 6: What Does the Future Hold, Particularly for Adults?
- Question 7: What Other Infrastructure and Surveillance Needs Must Be Met?
NICHD supports and conducts research in all seven areas, with particular support for research relevant to questions 1 and 2.
Much of NICHD's autism research is conducted through the trans-NIH Autism Centers of Excellence (ACE) Program. The ACE project, established in 2007, was a consolidation of two previous research efforts—the NICHD-led Collaborative Programs of Excellence in Autism and the Studies to Advance Autism Research and Treatment. ACE was intended to better coordinate autism research across the NIH.
IACC Question 1: Diagnosis of ASD
NICHD-supported research related to IACC Question 1 aims to develop and improve screening and diagnostic tools for ASD. The Intellectual and Developmental Disabilities Branch (IDDB) supports extramural research exploring ways to validate and improve screening and diagnosis tools for ASD, such as the Modified Checklist for Autism in Toddlers (M-CHAT), an effective screening tool for children aged 16 months to 2½ years. The Branch also supports the development of new screening tools, especially those for children younger than age 24 months, and the development of instruments for assessing symptoms and daily function of people with ASD.
The IDDB also supports studies that may inform the development of new screening tools in the future. IDDB-funded research tracks the anatomical, functional, emotional, communicative, and behavioral characteristics of infants at high risk for ASD over time in order to develop and improve the long-term accuracy of diagnostic and prognostic tools for ASD. The Branch also supports systematic efforts to identify genetic variants associated with autism, with the eventual goal of developing a new early diagnosis and classification system. IDDB-supported research studies also address the development of the linguistic and sensory symptoms of ASD throughout childhood, which may also inform screening tools.
- IDDB-supported findings: Researchers worked with health care providers to screen more than 15,000 low-risk toddlers using an updated version of MCHAT, the Modified Checklist for Autism in Toddlers—Revised, with Follow-Up (M-CHAT–R/F) and found it to be more accurate than earlier versions at identifying children who could benefit from further evaluation. (PMID: 24366990)
The IDDB's research support is complemented by support from the Child Development and Behavior Branch (CDBB) for research on the processes of normal development. Data on the development of joint attention, social orientation, and emotional function and communications provide important benchmarks for understanding how early deficits in these skills develop in ASD.
NICHD's intramural scientists also conduct research relevant to this IACC question. Through its Epidemiology Branch, within the Division of Intramural Population Health Research (DIPHR), the Institute is active in the assessment of the M-CHAT for ASD and other developmental screening algorithms. The DIPHR has also conducted research on the patterns of growth, physical development, and hormone levels throughout childhood in autism.
IACC Question 2: Biology of ASD
Several extramural branches of NICHD support research on disorders of neurologic and behavioral development, such as autism, by characterizing the developmental processes, cognitive processes, sensory and motor systems, and molecular and neural mechanisms that are relevant in the biology of the condition and its symptoms.
For instance, the IDDB supports research on the biology of ASD, including studies of the developmental processes underlying ASD biology throughout childhood. This research aims to characterize the cognitive and sensory/motor deficits in ASD, such as difficulties in recognizing emotion in faces and speech and the dysfunction in perceiving time or the differences between sounds. The Branch also supports research on the molecular and neurological underpinnings of ASD in humans as well as in model organisms. Funded research also delineates the function of genes and risk for ASD in brain development and function and maps the altered biochemical pathways and neural networks in brains of people with ASD to determine how these biological characteristics are correlated with behaviors or symptoms.
The IDDB is also interested in research on the biological processes that ASD has in common between ASD with comorbid or causative genetic conditions, such as Fragile X syndrome, t syndrome, Angelman syndrome, and Prader-Willi syndrome. The Branch also funds research to find or characterize subtypes of autism, by identifying new genes related to ASD risk and correlating known risk genes with brain structure and function and symptoms.
In addition, the CDBB's Developmental Cognitive Psychology, Behavioral Neuroscience, and Psychobiology Program funds studies to identify and characterize the pathways involved in brain development and behavior, including those in the sensory, motor, linguistic, cognitive, and social behavioral domains, all of which are disrupted in ASD. The Branch's studies of typically developing children serve as an important benchmark for understanding the differences found in children with ASD.
The Developmental Biology and Structural Variation Branch also supports research on normal and abnormal development relating to the causes and prevention of congenital and genetic defects, as well as research training in relevant academic and medical areas, with an emphasis on the biochemical, genetic, and cellular mechanisms of early development that can be disrupted in disorders like ASD.
The Section on Cellular and Synaptic Physiology, within the Division of Intramural Research (DIR) Neurosciences Affinity Group, focuses on the development and regulation of synapses in the cortex and hippocampus. Networks in these areas are disrupted in ASD and other brain disorders.
IACC Question 3: Causes and Preventions of ASD
The IDDB is a major supporter of human and animal studies on the causes of ASD, including investigation of the processes and pathways associated with ASD, autism symptoms, common co-morbidities, and protective factors for ASD. One large area of IDDB support is genetics and epigenetics. The Branch funds studies of the identification, expression, regulation, and interactions of gene variants linked to ASD and autism-related behaviors and symptoms. The IDDB also supports research on potential environmental risk factors and biomarkers for ASD, including gene-environment interactions.
In addition, two laboratories within the DIR conduct research relevant to the biology of ASD:
- The Section on Molecular y conducts research on a potential new endophenotype of ASD related to hypocholesterolemia.
- The Section on Clinical Genomics uses a cell-culture model to study neuronal networks in autism. Its research also examines the expression of non-coding RNA in the brain in autism.
IACC Question 4: Interventions for ASD
The IDDB supports research on the development and evaluation of therapies and treatments for ASD, ASD symptoms, and related disorders, such as Fragile X syndrome, as well as the long-term effects of these interventions. Potential treatment targets include repetitive behavior, joint attention, social skills, emotional sharing, symbolic understanding, language and communication, irritability and anxiety, and insistence on sameness. Researchers working in human subjects and animal models consider a range of treatment types, from behavioral and educational interventions to pharmaceutical treatments, including comprehensive treatments that combine behavior and medication.
- IDDB-supported findings: A recent ACE network study found that directing the attention of preschool-aged children with ASD increased the children's vocabularies and language skills by the time they were age 8, compared to a control. In the intervention, adults actively engaged the children's attention by pointing to toys and using other gestures.
IACC Question 5: Services for People with ASD
As a research agency, NICHD focuses its efforts on evaluating services—how they are delivered or how effective they are, for example—rather than on providing services. For instance, the IDDB supports a few studies of methods to develop or improve services for people with ASD, including services related to teaching life skills and ensuring physical safety of people with ASD.
IACC Question 6: Health Over the Lifespan with ASD
Most NICHD research addresses the early biological origins of ASD, meaning that efforts related to this question are handled by other agencies. However, through the IDDB, NICHD supports one study related to this question, focused on teaching social skills to adolescents with high-functioning ASD.
IACC Question 7: Infrastructure for ASD Research
Much of the Institute's work within this area is related to support of the ACE program. In 2012, NIH awarded $100 million to continue support of the program. The Institute also supports other projects related to ASD research infrastructure, including the National Database for Autism Research, Brain and Tissue Bank, and NeuroBioBank resources that are described in the Other Activities and Advances section below.
To achieve its goals for autism research, NICHD supports a variety of other activities related to autism. Some of these activities are managed through the components listed above; others are part of NIH-wide or collaborative efforts in which NICHD participates. Some of these are listed below:
- The Autism Centers of Excellence (ACE) Program is the trans-NIH research effort on ASD.
- The Collaborative Programs of Excellence in Autism (CPEAs)/Studies to Advance Autism Research & Treatment (STAART) Centers conducted and supported studies on the causes, diagnosis, prevention, detection, and treatment of ASD. These Networks were consolidated in 2007 into the ACE Program to enable pooling of resources and maximum coordination and efficiency for autism research across the NIH.
- NICHD's Eunice Kennedy Shriver Intellectual and Developmental Disabilities Research Centers are located at 15 universities and children's hospitals throughout the country and aim to advance understanding of a variety of conditions and topics related to IDDs.
- The Fragile X Syndrome Research Center Program, funded by the IDDB, supports research to improve the diagnosis and treatment of Fragile X syndrome and related conditions.
- The government-wide Interagency Autism Coordinating Committee (IACC) includes representatives from NICHD.
- The National Database for Autism Research includes relevant data at all levels of biological and behavioral organization (i.e., molecules, genes, neural tissues, social and environmental interactions) and for all data types (e.g., text, numeric, image, time series).
- The NIH NeuroBioBank is a network of brain and tissue banks in the United States that collect, examine, and store tissues; the banks also make the tissues available to scientists for research on brain disorders.
- The NICHD Brain and Tissue Bank for Developmental Disorders systematically collects, stores, and distributes brain and other tissues for research dedicated to the improved understanding, care, and treatment of individuals with developmental disabilities, including ASD.