The NICHD's autism research portfolio is spread throughout the Institute, including extramural components that support research on autism spectrum disorder (ASD) and other intellectual and developmental disabilities (IDDs). The 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 can inform our understanding of the developmental and molecular processes involved in autism pathophysiology. Some of these efforts are described below.
Institute Activities & Advances
In 1997, the NICHD started a five-year, $45 million, international Network on the Neurobiology and Genetics of Autism, which included 10 Collaborative Programs of Excellence in Autism (CPEA) to conduct research on the possible causes of autism. The Autism Centers of Excellence (ACE) Program was created in 2007 from the consolidation of the CPEA and the Studies to Advance Autism Treatment and Research Network in an effort to better coordinate autism research across the NIH.
ASD Screening & Diagnosis
The Intellectual and Developmental Disabilities Branch supports extramural research exploring ways to improve the accuracy and utility of screening and diagnosis tools for ASD. IDD Branch-funded research also tracks the anatomical, functional, and behavioral characteristics of high-risk infants over time in order to develop and improve the long-term accuracy of diagnostic and prognostic tools for ASD. Through its intramural Epidemiology Branch, NICHD is active in the assessment of developmental screening algorithms for ASD and other conditions, and helped establish the Modified Checklist for Autism in Toddlers, an effective diagnostic tool for children 16 months to 2½ years old.
General Developmental & Behavioral Neurobiology in ASD
Two branches of NICHD support extramural research on disorders of neurologic and behavioral development, such as autism, by characterizing the developmental processes and mechanisms that are relevant to the condition and its symptoms.
- Through its Developmental Cognitive Psychology, Behavioral Neuroscience, and Psychobiology Program, the NICHD funds human and animal model studies to identify and characterize the pathways involved in brain development and behavior, including the sensory, motor, linguistic, cognitive, and social behavioral domains, all of which are disrupted in ASD.
- The Developmental Biology and Structural Variation Branch 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, molecular biologic, genetic, and cellular mechanisms of early development.
- Intramurally, the Section on Cellular and Synaptic Physiology, within the Division of Intramural Research (DIR) Program in Developmental Neuroscience, 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.
Etiology & Pathophysiology of ASD
The IDD Branch is the primary NICHD entity for supporting human and animal studies on the causes and characteristics of ASD, including investigation of the processes and pathways associated with ASD, autism symptoms, common co-morbidities, and protective factors for ASD. The IDD Branch funds research on:
- Anatomy: head and brain anatomy in ASD and infants at risk for ASD, providing insights into the molecular mechanisms of the disorder and possibly leading to earlier diagnosis
- Genetics: the identification, expression, and interactions of gene variants linked to ASD, autism-related behaviors, and other aspects of autism, such as linguistics
- Behavior: a spectrum of behaviors associated with autism and their etiologies, including social behaviors, insistence on sameness and repetitive behaviors, self-injurious behavior, joint-attention deficits, and motor deficits
- Environment: potential environmental risk factors and biomarkers for ASD, including gene-environment interactions
Interventions for ASD
The IDD Branch sponsors extramural research on the development of therapies and treatments for ASD, ASD symptoms, and autism-related disorders such as Fragile X syndrome, as well as the long-term effects of autism interventions. Potential treatment targets include self-injurious and other repetitive behavior, joint attention, symbolic understanding, language, irritability and anxiety, and practical life-skills. Researchers consider a range of treatment types, from behavioral to pharmaceutical treatments, including comprehensive support of pharmaceutical research for autism symptoms.
Other Activities & Advances
To achieve its goals for autism research, the 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 the NICHD participates. Some of these are listed below:
- The Autism Centers of Excellence (ACE) Program is the trans-NIH research effort on ASD.
- The NICHD's Eunice Kennedy Shriver IDD Research Centers
Describes the NICHD research center program that focuses on IDDs.
- The government-wide Interagency Autism Coordinating Committee includes representatives from the 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 (i.e., text, numeric, image, time series, etc.).
- 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 autism spectrum disorders.
- The NIH Autism Coordinating Committee is an NIH-wide committee, of which the NICHD is a founding and active member.