New Study Finds Genetic Mutations Play a Role in Stuttering

New research has found that stuttering—a mystery to medical professionals and an embarrassment to those afflicted—may be caused by three genetic mutations in the brain. The study, published this week in The New England Journal of Medicine, identified the genetic mutations in an area of the brain that controls speech, and suggests that “genes could play a big role” in stuttering, Stephanie Smith reports for CNN.

“People have looked for a cause of stuttering for 5,000 years,” Dennis Drayna, a researcher at the National Institute on Deafness and Other Communication Disorders, and a coauthor of the study, told CNN. “Many, many things have been suggested as a cause of stuttering. None of them have turned out to be true. For the first time today, we know one of the causes of this disorder.”

Other studies have also looked at genetics as a possible cause for stuttering, and have even considered using drugs to treat stuttering. This approach “is just part of a transformation of stuttering—in the medical view—from what was once widely considered a nervous or emotional condition to a neurological one that is at least partly genetic,” Andrew Pollack wrote for The New York Times in 2006.

Dr. Gerald Maguire, a psychiatrist at the University of California, Irvine—and a stutterer himself—has been looking to pharmaceuticals for a cure for stuttering. Maguire ran small trials of two drugs developed to treat schizophrenia—Risperdal, from Johnson & Johnson, and Zyprexa, from Eli Lilly—and found some success with the drugs, “but neither company took the drug into larger trials,” Pollack reported.

Pagoclone, first tested as a treatment for anxiety and panic disorders, is the latest candidate. The New York Times reported that in May 2006, Indevus Pharmaceuticals found “encouraging results” in their clinical trials with the drug, making pagoclone the best contender for a possible “first medical treatment approved for stuttering,” Pollack wrote.

ClinicalTrials.gov, a Web site of the U.S. National Institutes of Health, lists active and completed studies involving pagoclone, while PubMed.gov links to the most recent pagoclone references in scientific journals. 

Stuttering is a speech disorder that affects the flow of speech, causing repeated words or sounds. According to the National Institute on Deafness and Other Communication Disorders (NIDCD), approximately 3 million Americans stutter. Although stuttering affects children and adults, it is most often seen in children between the ages of 2 and 5, when they are learning to talk. Most children outgrow stuttering, though about 1 percent of adults stutter.

Most people who stutter have horror stories to tell about their days in elementary school, when their stuttering was most pronounced. “Alan Rabinowitz, a noted wildlife conservationist, has told of how when called upon by a teacher in elementary school, he once avoided answering by stabbing his hand with a pencil so he would be taken to the hospital,” Pollack writes. How do schools deal with stuttering today?

Speech therapy is the most common treatment for those who stutter. KidsHealth explains that most schools offer testing and appropriate speech therapy for children who stutter.

There are plenty of free resources available online with information and support. For an overview of speech therapies available for school children, visit the National Stuttering Association. The Stuttering Foundation offers a brochure for teachers with eight tips to help a child in their classroom with a stuttering problem.

Stuttering doesn’t have to be a roadblock to success. From Joe Biden to Marilyn Monroe, Mental Floss magazine lists "8 Famous Stutterers" who didn’t let stuttering stop them from stepping into the limelight.

Jack Welch, former CEO of General Electric, wasn’t included in Mental Floss’ list, but he could have been. Welch also prevailed in spite of a stutter.