New Act by Congress Gives Boost to Autism Research
New Act by Congress Gives Boost to Autism Research
February 2007, Vol. XXIV, No. 2
The passage and signing in December of the Combating Autism Act (S. 843), which authorizes $945 million over 5 years for research, screening, intervention, and education on autism spectrum disorders (ASD) and developmental disabilities, has been hailed by the advocacy group Cure Autism Now (CAN) as a “federal declaration of war on the epidemic of autism,” a disorder that affects 1 in 166 children. 1 Yet, some battles are already under way at NIMH's Intramural Research Program, with patient recruitment proceeding for 3 major autism studies.
In a press statement, Jonathan Shestack, father of an autistic child and cofounder of CAN, a large private funding organization for autism research, said S. 843 (now Public Law 109-416) “creates a congressionally mandated road map for a federal assault on autism, including requirements for strategic planning, budget transparency, congressional oversight, and a substantial role for parents of children with autism in the federal decision-making process.”
Key provisions of the law, subject to the availability of appropriations, call for the following:
- Expanded research on ASD, including basic and clinical research in such fields as pathology, developmental neurobiology, genetics, pharmacology, nutrition, immunology, neurobehavioral development, and toxicology.
- The CDC to increase and update its efforts to monitor autism incidence and prevalence around the country and to support the establishment of regional Centers of Excellence in the epidemiology of ASDs and other developmental disabilities.
- Development of a curriculum for continuing education to assist in recognizing the need for valid and reliable screening tools and in using those tools.
- Early screening of individuals at higher risk for ASD and other developmental disabilities.
- Congressional oversight of the Autism Centers of Excellence.
- Expansion and reauthorization of the Interagency Autism Coordinating Committee, composed of relevant government officials, experts, families of those with ASD, and at least one individual who has ASD.
The NIMH studies on the NIH campus in Bethesda, Md, are the first products of a new, integrated focus on autism. One study, “Clinical and Immunological Investigations of Sub-types of Autism,” seeks to learn more about autism and its subtypes. “It is actually two studies in one,” said Susan Swedo, MD, chief of NIMH's Pediatrics and Developmental Neuropsychiatry Branch.
The first is a study of regressive versus nonregressive autism to determine whether there is an immune or other systemic trigger of children's neurologic regression, she said. It involves 50 children with idiopathic autism and regression, 50 children with idiopathic autism and no history of regression, 25 children with Rett syndrome, and 50 healthy children. The age range of all 4 groups is between 12 months and 48 months at first visit.
The second component to the study, Swedo said, is part of the Autism Phenome Project, a pilot investigation being conducted in collaboration with David Amaral, PhD, Beneto Foundation Professor and director of research at the M.I.N.D. Institute at the University of California, Davis. Between the 2 sites, the pilot phase of the phenome study involves 50 to 100 children with autism, 50 children with developmental delays, and 50 to 100 children without disorders. The purpose is to identify clinically meaningful subtypes of autism, which could lead to better understanding of the etiology and pathophysiology of the disorder.
Increasingly, researchers are considering that autism may be multiple disorders. The regressive subtype is well characterized, Swedo said, although there is some debate about how common it is. The reports vary from indicating that as few as 10% to as many as 40% of children with autism have a pattern of regression.
With regressive autism, Swedo explained, you have a history of the child developing typically until age 12 to 18 months with appropriate development of language and social skills and then the child loses words and social skills and begins to look indistinguishable from children who have had autistic symptoms from birth or early on.“Some investigators have found that the regressive subtype actually has a worse prognosis,” she said.
To explain the regression, Swedo said that the research team's working hypothesis is that there are environmental triggers or perhaps genetic aberrations that are expressed at this particular point in the child's development. One possibility based on Swedo's work with obsessive-compulsive disorder and the pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections subgroup is that regressive autism develops following a viral or bacterial infection that triggers an autoimmune response and neuropsychiatric symptoms.
The phenome study includes questions related to a child's exposure to environmental toxins and household products; neuroimaging (structural MRI); and biomarkers; as well as very careful behavioral, neurologic (eg, via electroencephalograms administered while the child sleeps in the hospital overnight), and physical assessments. “The children will be monitored every 6 months to a year until they are age 5, and then intermittently after that time” to examine the validity of their diagnosis and how their symptom course evolves over time, Swedo added.