Research yields significant insights into a common form of autism

Pictured is Lawrence T. Reiter, Ph.D., associate professor in the UTHSC Department of Neurology, holds joint appointments in both Pediatrics as well as Anatomy and Neurobiology. Credit: University of Tennessee Health Science Center

Identifying and understanding the combination of factors that leads to autism is an ongoing scientific challenge. This developmental disorder appears in the first three years of life, and affects the brain's normal development of social and communication skills. Results from a study led by Larry T. Reiter, PhD, at the University of Tennessee Health Science Center (UTHSC) are providing significant insights into the disorder through the study of a specific form of autism caused by a duplication on chromosome 15. This month his work appears in Autism Research, the official journal of the International Society for Autism Research.

Dr. Reiter, who is an associate professor in the UTHSC Department of Neurology, holds joint appointments in both Pediatrics as well as Anatomy and Neurobiology. His study, which began in 2006, is focused on a sub-group of 14 individuals who have a specific chromosome duplication, known as int dup(15)—short for interstitial duplications of 15q11.2-q13. Recruitment efforts were spearheaded by a parent support group for 15q duplication known as the Duplication 15q Alliance. Participants underwent a series of tests in order to better understand what autism looks like for those with this chromosome 15q duplication versus those with autism of unknown origin.

"This is the largest study of this particular sub-group ever undertaken at a single location with the same set of investigators," Dr. Reiter said. "We found several interesting points in the course of the study. Consistent with other much smaller studies, we found that maternal duplications of int dup(15) were always associated with autism, while paternal duplications did not always result in an . We identified a signal in the brain that suggests the individuals with 15q duplication may have elevated levels of a called GABA in both maternal and paternal duplication subjects. In addition, we identified previously unknown in maternal and paternal subjects, which are more severe in the paternal int dup(15) individuals."

"Not only does Dr. Reiter's study make a significant contribution to what is known about how certain genetic abnormalities directly affect brain function, in this case in a subset of patients with autism, but his approach is a great example of how basic scientists can work with clinicians to translate findings from the research laboratory to actual patients to gain important insight into mechanisms of human disease," said Dennis Black, MD, director of the Children's Foundation Research Institute at Le Bonheur Children's Hospital. "We hope that this will set the pace for more translational collaboration in the future across the UTHSC campus and with other institutions," said Dr. Black, who is also the Vice President for Research at Le Bonheur.

Related Stories

New evidence for genetic basis of autism found

Oct 03, 2011

Scientists at Cold Spring Harbor Laboratory (CSHL) have discovered that one of the most common genetic alterations in autism -- deletion of a 27-gene cluster on chromosome 16 -- causes autism-like features. ...

Higher maternal age predicts risk of autism

Apr 26, 2012

In a study published in the May 2012 issue of the Journal of the American Academy of Child and Adolescent Psychiatry, led by Mr. Sven Sandin, of the Karolinska Institutet, Sweden and King's College London, researchers analyz ...

Both maternal and paternal age linked to autism

Feb 10, 2012

Older maternal and paternal age are jointly associated with having a child with autism, according to a recently published study led by researchers at The University of Texas Health Science Center at Houston (UTHealth).

Recurrent genetic deletion linked to autism

Jan 08, 2008

Loss of a small portion of chromosome 16, known as 16p11.2, is significantly associated with autism report researchers from the University of Chicago Medical Center, the University of Illinois at Chicago, and the Roswell ...

Recommended for you

Helping autistic kids read, write and communicate

Dec 04, 2014

The boy is delighted. You can see it in his eyes—his enthusiasm for the task, his pride in his ability. Indeed, Max has good reason to be proud: At age three, he is reading. And at this precise moment, ...

User comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.