Project Detail
Interagency Autism Coordinating Committee (IACC) logo
Office of Autism Research Coordination (OARC) logo

Clinical and behavioral phenotyping of autism and related disorders  

The current diagnostic definition of autism is based on behavioral characteristics, but there is mounting evidence that it may represent a collection of overlapping neurodevelopmental disorders. The wide range of possible causes and the variety of symptom expression among individuals with autism has caused speculation that there actually are several "autisms", i.e., clinical subtypes of the disorder that may have distinct causes, symptoms, co-occurring conditions, and treatments. This research program aims to characterize the behavioral and biological manifestations of these subtypes of autism and to examine the connection between the two, in an effort to identify unique etiologies and to develop more effective therapeutic and preventive interventions. The main project is a longitudinal phenotyping study of young children (ages 1-4) with autism who are followed for three years. The study participants receive comprehensive behavioral, neuropsychological, medical, and neurological evaluations, as well as a routine and overnight electroencephalogram (EEG), neuroimaging with magnetic resonance imaging (MRI), modified polysomnography to evaluate sleep architecture, blood and urine samples (and children with autism receive a lumbar puncture to obtain cerebrospinal fluid for analysis), as well as assessments of environmental exposures, early medical history, genetics, genomics, and dysmorphology. Comprehensive phenotyping may identify biological and behavioral subgroups in individuals with ASD. Identification of ASD subgroups may provide clues to prognosis, etiology, pathophysiology, and treatment of autism. Project Status


Funder National Institutes of Health
Fiscal Year Funding $2,416,235.00
Project Number 1ZIAMH002868-04
Principal Investigator Swedo, Susan
Received ARRA Funding? No
Strategic Plan Question Question 1: When Should I Be Concerned? (Diagnosis)
Strategic Plan Objective Yellow dot: Objective has some degree of funding, but less than the recommended amount. 1LB. Develop at least five measures of behavioral and/or biological heterogeneity in children or adults with ASD, beyond variation in intellectual disability, that clearly relate to etiology and risk, treatment response and/or outcome by 2015. IACC Recommended Budget: $71,100,000 over 5 years.
Federal or Private? Federal
Institution National Institutes of Health (NIH)
State/Country Maryland
Web Link 1 Clinical and behavioral phenotyping of autism and related disorders (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects Clinical and behavioral phenotyping of autism and related disorders | $1,926,685.00 | 2010 | 1ZIAMH002868-05
Clinical and behavioral phenotyping of autism and related disorders | $1,851,716.00 | 2008 | Z01MH002868-03