Study focuses on genetic markers in the diagnosis of autism

Cleveland Clinic Children's Hospital has launched a study to determine whether genetic markers can be used to help identify children who are at risk of developing autism.

The study is designed to confirm the predictive value of established genetic markers and is a follow-up to retrospective studies that have been completed.

Thomas Frazier, Ph.D., of Cleveland Clinic Children's Hospital Center for Autism, is the principle investigator for the study being funded by IntegraGen, a French biomedical company. The study will enroll 600 children over the next two years.

"This is the first time anyone has done a prospective study on a combination of genetic markers to examine whether a genetic risk score is helpful in identifying children with autism," Dr. Frazier said. "Autism is currently assessed by looking at behavioral characteristics of children. If we can develop a genetic test to assist in the earlier diagnosis of autism, we can provide beneficial treatment that leads to improved outcomes more quickly."

This study launches as the autism community prepares for the American Psychiatric Association's publication of the fifth edition of Diagnostic and Statistical Manual of Mental Disorders (DSM-5) in May 2013. Many experts expect the DSM will have a huge impact on autism spectrum disorders by narrowing the criteria for autism, eliminating Asperger syndrome and PDD-NOS (Pervasive Developmental Disorder-Not Otherwise Specified).

"A genetic risk assessment tool has the potential to ensure that high-functioning individuals, who are part of the autism spectrum, continue to be appropriately identified and receive necessary treatments," Dr. Frazier said.

Dr. Frazier's team will also study whether genetic changes may be associated with attention deficit/hyperactivity disorder. The study will enroll 300 children between the ages of 1 and 12 who are suspected to have an autism spectrum disorder, 75 children diagnosed with ADHD, and 225 children who do not have developmental disorders.

A cheek swab inside the mouth will be used to collect DNA from each study participant. Additionally, parents or caregivers will be asked to complete standardized questionnaires. Parents interested in finding out more information or enrolling their child in the study can contact the Cleveland Clinic Children's Hospital Center for Autism's Research Coordinator at (216) 448-6493.

Source: Cleveland Clinic