Researchers Who Discovered First Genes for Stuttering will Present Findings to the National Stuttering Association

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Implications that speech problems may be an inherited metabolic disorder will be discussed during the July 2010 Conference and Research Symposium.

These findings will help with early identification of stuttering so children can get the therapy and support they need at an early age, which can often lead to better outcomes

Stuttering may be the result of a glitch in the day-to-day process by which cellular components in key regions of the brain are broken down and recycled, says a study in the Feb. 10 Online First issue of the New England Journal of Medicine.

“This is a very exciting discovery,” said National Stuttering Association (NSA) Chairman Ernie Canadeo. “It validates our view that stuttering has a genetic component, and that it is not behavioral. Emotional factors do not cause stuttering.”

The study, led by researchers at the National Institute on Deafness and Other Communication Disorders (NIDCD), part of the National Institutes of Health, has identified three genes as a source of stuttering in volunteers from Pakistan, the United States, and England.

“The study provides further evidence that stuttering is not a behavioral disorder but has as its origins—genetics manifesting in abnormal neuronal activity. We have learned much recently from brain imaging and pharmacologic studies that stuttering is associated with abnormal neurophysiology—how this relates directly to lysosomal function is an area which we definitely need to research further,” said Gerald A. Maguire, M.D. Associate Professor of Clinical Psychiatry, Kirkup Endowed Chair in Stuttering Treatment, Senior Associate Dean, Educational Affairs, University of California, Irvine School of Medicine.

Stuttering tends to run in families and researchers have long suspected a genetic component. Previous studies of stuttering in a group of families from Pakistan had been done by Dennis Drayna, Ph.D., a geneticist with the NIDCD who led the latest research.

“These findings will help with early identification of stuttering so children can get the therapy and support they need at an early age, which can often lead to better outcomes,” said John A. Tetnowski, Ph. D, CCC-SLP, Director of Communicative Disorders, University of Louisiana at Lafayette and an NSA Board Member.

Dr. Drayna and Dr. McGuire gave presentations, moderated by Dr. Tetnowski, at the National Stuttering Association’s Research Symposium in Arizona last year and are scheduled to present the implications of these new findings on people who stutter at the NSA’s Conference and Research Symposium in Cleveland this July. Over 600 people who stutter, their families, speech language pathologists, and others interested in stuttering typically attend the conference each year.

Stuttering is a speech disorder in which a person repeats or prolongs sounds, syllables, or words, disrupting the normal flow of speech. It can severely hinder communication and a person's quality of life. Most children who stutter will outgrow stuttering, although many do not; roughly one percent of adults stutter worldwide. Current therapies for adults who stutter have focused on such strategies as reducing anxiety, regulating breathing and rate of speech, and using electronic devices to help improve fluency.

The National Stuttering Association is a non-profit organization dedicated to bringing hope and empowerment to children and adults who stutter, their families, and professionals through support, education, advocacy, and research. It is represented by over 100 local chapters and support programs for children, families, teens, and adults throughout the United States. It was established in 1977. For more information, visit http://www.westutter.org.

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Carolyn Woodside
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Tammy Flores