This is a news release from the University of Utah Medical Center
Gene Search
Studying the family members of individuals with autism may yield clues to the identification of a gene for the behavioral disorder.
"Autism's widely varying symptoms and characteristics present serious obstacles to identifying the gene for the problem," said William M. McMahon, M.D., associate professor of psychiatry at the University of Utah School of Medicine and director of the Utah Autism Research Project, a five-year, $3.5-million study.
"We're trying to find traits that occur in persons who are susceptible to a genetic disease but do not have the disease itself," McMahon said. "Persons with autism may be at the extreme end of the expression of the one or more genes that cause the disorder; other family members may have certain cognitive impairments."
The National Institutes of Health is funding the project, which involves the U. of U., Utah State University (USU), Logan, Utah, and the University of Iowa. Forty families, including 100 autistic males from 7-30 years of age, are participating
Autism impacts the normal development of the brain; those affected typically have difficulties in verbal and non-verbal communication, social interactions and leisure or play activities. As many as 1 in 500 individuals (the great majority boys) develop this disorder, usually between the ages of two to three.
Three Segments of Project
One segment of the project, at USU, is testing the hypothesis that immunologic abnormalities may be involved in autism. J. Dennis Odell, M.D., is principal investigator. Anthony R. Torres, M.D., and Roger A. Burger, Ph.D., are co-investigators.
A second segment, on cognitive function, focuses on executive function abilities (a high order function) of family members of autistic participants. This portion is done on a computer, which records responses to tasks. Sally J. Ozonoff, Ph.D., associate professor of psychology at the University of Utah, is principal investigator on this study.
In the project's third focus, Magnetic Resonance Imaging (MRI) will be used to explore possible abnormalities in brain size and shape in autistic participants. According to McMahon, about 20 percent of autistic children have heads that are too large for their body size. "We don't know what that means. An MRI may show whether a big head also means a large brain or brain regions that are disproportionately bigger than others," he said. Janet E. Lainhart, M.D., U of U assistant professor of psychiatry, and three additional researchers at the University of Iowa are conducting this study.
"Most researchers believe that autism is not a single disease, but a collection of different diseases. There is a need to figure out how to discriminate between them. We hope our project will help decide if there is a genetic reason for the disorder and how the gene is passed on in families," McMahon said.
Secretin Clinical Trials
The three U researchers also are conducting clinical trials of secretin for the treatment of autism as part of a study funded by the M.I.N.D. Institute at the University of California, Davis, School of Medicine and Medical Center. Pauline A. Filipek, a pediatric neurologist at the University of California, Irvine, directs this research.
Secretin, a natural hormone produced by the cells of the small intestine, is a diagnostic tool for gastrointestinal specialists, according to McMahon. "The only published study involved just three children with autism, who were given secretin as part of a work-up for chronic diarrhea. The parents noticed improvements in behavior, eye contact, and language skills and pursued the cause," McMahon said.
"The story, featured on 20/20 and posted on the Internet, has circulated so widely that the supply of secretin, which is harvested from pigs, has been depleted. The order we placed in February still hasn't arrived," the U psychiatrist said.
In the U's double-blind study, 20 autistic children 5-12 years of age will take secretin for four weeks and then a placebo for four weeks.
"Autism is such a desperate condition that anything that implies hope is appealing to parents, who sometimes deplete their savings following such hope," McMahon said. "Our study's goal is to either validate secretin or discount it as being beneficial."
