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 Stuttering is a speech disorder wherein sounds, syllables or words are repeated. In addition to repetition, there may also be interjections, interruptions, and prolongation of sounds and words that contribute towards a disrupted speech flow. Depending on the severity of the condition, stuttering may be accompanied by behavior patterns such as rapid blinking of the eyes, clenching of the fists, and tension of the facial muscles. Stuttering affects not only a person’s communication skills but also his social and professional interactions. Self-confidence is often low among people who stutter and this can affect their overall quality of life.

Reports show that there are nearly three million Americans who stutter. Inspite of these high numbers, there is still no cure for stuttering. At best various therapies can help manage the condition and reduce the stuttering but not cure it completely. At the crux of this dilemma is the fact that the exact cause of stuttering is still not known. Theories exist about factors such as heredity, brain development and stress that can increase a person’s chance of stuttering but there is no scientific evidence to prove the same.

It has long since been agreed, that there is a genetic link to stuttering, as the condition tends to run in families. Until now however, there has been no proof. In a recent unusual type of genetic study, families with a number of stutterers were evaluated and examined. Researchers from the NIH's National Institute on Deafness and Other Communication Disorders (NIDCD) identified certain mutations of genes that may be the cause of stuttering.

The study originally involved 46 Pakistani families with a number of stutterers in each family. Genetic mutations that were identified on the basis of this study were known as GNPTAB. These mutations were present in 46 family members of the families that were studied. The study then examined nearly 550 people who stuttered and did not stutter from the UK and the US. It was discovered that the GNPTAB genetic mutations were present in many of the people who stuttered. None of the non-stutterers however possessed any of these mutations thus confirming a genetic link to the condition. Further analysis also indicated the presence of two other genetic mutations - GNPTG and NAGPA that were present only in the stutterers and not in those who did not stutter.

The fact that there is proof of a genetic connection to stuttering comes as a huge relief to people who stutter. In the face of accusations that stuttering is a bad ‘habit’ or something that can be stopped if one tries hard enough, the fact that there is a biological reason helps lessen the guilt associated with the disorder. For parents of children who stutter, this news is also reassuring. Many times parents feel that they must have done something wrong that has caused this problem in their child. Now, doctors and experts can assure them that this is not the case.

The researchers hope to extend their study to different parts of the world and study the problem of stuttering and the genetic connection in more detail. They believe that during the course of the study, several more genes will be identified that will help throw light on the causes of this condition. According to the NIDCD Director James F. Battey Jr., MD, PhD, such genetic proof could lead to tests that help identify children who may develop into stutterers and with whom the problem may persist into adulthood. In such cases, identifying these children will help in early intervention and successful treatment of the condition.

References:

1. http://www.mnsu.edu/comdis/kuster/Infostuttering/Harrison/genetics/genetics.html

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