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Photo courtesy of Harwood Center for Developmental Disabilities

If you don’t believe the current economic downturn is real, just ask a scientist. Researchers at the University of Tennessee Health Science Center (UTHSC) are finding grant funding is in short supply this summer. Kathryn McVicar, MD, a pediatric neurologist with UTHSC, said she knows of several projects that are awaiting funding but money from federal agencies like the National Institutes of Health has been hard to come by. “We’re hoping that changes within the next six months because money is scarce,” said McVicar.
Since the Bush administration recently allotted funding for the Combating Autism Act, researchers like McVicar feel it’s just a matter of time before funding starts flowing again to continue autism research. There are a number of research projects ongoing in the Memphis area that concern autism. Here is a sampling.

Genetics research on rare form of autism
Autism is a complex disorder; one scientists are hard at work trying to better understand. Through genetic research and clinical trials, Larry Reiter, PhD, a cell and molecular biologist with UTHSC, hopes to unravel at least one rare form of autism. Scientists know that when the UBE3 gene (found on chromosome 15) duplicates, it results in a very specific form of autism. Children with the UBE3 duplication don’t suffer from seizures as other autistic kids do, yet they do exhibit language abnormalities with specific word choice themes. Reiter says they also have large vocabularies but don’t know how to use the words appropriately.

He's working at the molecular level to determine what the phenotype is that makes this gene different, and doing evaluations through clinical trials to determine how the gene's duplication affects behavior. During the three days he spends with patients, Reiter gathers an array of data, from EEGs and language skill tests to IQ tests, in an effort to derive information that will tell more about the effects of this duplication.

“Parents are interested but frustrated because they don't know what to do. They have a diagnosis but no options. One dad wanted to know how his child might function, but I can't say because we really don't know. And until the study is done and we have data we can get behind, I don't know,” says Reiter, an assistant professor. “It's not a one gene disorder like Down Syndrome or cystic fibrosis. There's not that consistency, which makes it harder to dig into genetically.”

To find subjects for his study, Reiter posts information on IDEA's website (an autism support group). Over the past year-and-a-half, nine children have participated, some from outside the region, others who were directed to the study by local pediatric neurologists. Funding from Autism Speaks, an autism advocacy group, has enabled Reiter to do both bench and clinical trials.

Is autism colorblind?
On the behavioral front, University of Memphis assistant professor Julie Cleary, PhD, is examining whether developmental differences exist between African-American children and Caucasian children with autism. The study was launched two years ago after Cleary received a $115,000 grant from the National Alliance for Autism Research. Research shows that Caucasian children are typically diagnosed earlier than African-American children. As an audiology speech language pathologist, what Cleary is trying to answer is, what causes this delay? “We do have different cultural expectations, different levels of support in the community, and different interpretations of what we as parents should be concerned about,” she noted. “It may be that kids aren't presenting differently, but it may be our interpretation or the family's interpretation of behavior differences as to whether there should be concern.”

Thus far, 25 children between the ages of 2 and 5 have been evaluated. The developmental evaluation Cleary administers looks at each child’s social, communication, and play skills. Cleary then provides the family with a report and feedback at the time of the evaluation.

Cleary says part of what makes this study significant is that much of the research on autistic children has come from white, upper-middle class families who had access to healthcare services.

Cleary hopes to find an additional 20 children in the Memphis community to participate in the study. But finding subjects has proven tricky. She’s distributed brochures about the study all over town. “We hope to identify some reasons why kids who are African-American are being diagnosed later. We’re looking at parental concerns as well as the child’s behavior. This is a starting point for future research,” said Cleary. “It’s a small sample right now, but we’re hoping to use the data to receive more funding.”



August 2008

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