Found: Genetic Mutations Behind Stuttering

This article was written by Discover'sSmriti Rao.

Researchers from the National Institutes of Health have discovered the first genes linked to stuttering - a complex of three mutated genes that may be responsible for one in every 11 stuttering cases, especially in people of Asian descent.

have long suspected that stuttering has genetic roots, as it's often seen in families and twins, but this is the first time they've identified genes linked to the problem.

Dennis Drayna, the geneticist who led said he was shocked that two of the implicated genes were linked to rare, fatal metabolic disorders, but noted that must stutterers don't suffer from those disorders. Surprisingly, the genes that were altered in the stutterers are involved in removing metabolic waste from brain cells.

The researchers analyzed a section of chromosome 12 in a large Pakistani family and found that there were several mutations in three particular genes. "We think a special group of cells in the brain are particularly sensitive to these subtle mutations in these genes," Drayna said. He suspects that the mutated genes still partially function, but likened the system to a car that needs a tune-up: It still runs but not quite right. Some cells in the body need this to run like a Ferrari in order to function properly and those cells are involved in the production of speech in the brain," he continued.

Drayna said that this finding, published in the New England Journal of Medicine, would be instrumental in identifying children who might develop a speech impediment later on in life. This could help parents preclude future problems by getting the child into speech therapy early on. The National Institutes of Health estimates that there are 3 million people in the United States afflicted with this speech impediment-many of them children. About 60 percent of these people have at least one family member who stutters. Researchers believe that other genes will be found that also play a role in stuttering.

By Smriti Rao
Reprinted with permission from Discover

[BuddySorrell]

This breakthrough in the identification of a stuttering gene is the most important breakthrough in stuttering in world history. I think that America should be informed that any child with any kind of speech problem is entitled to free speech therapy that is guaranteed by federal law. Free therapy can start in preschool and go right through high school. Last year The Stuttering Foundation put out a brochure entitled "Special Education Law and Stuttering" which spells out to parents the details of this right to free speech therapy. This brochure is availabale for download on the website of The Stuttering Foundation (www.stutteringhelp.org) and also emphasizes that this right to free speech therapy encompasses ALL types of speech problems faced by kids. This website also has many free resources such as streaming videos; a Spanish-language of the Stuttering Foundation website can be found at www.tartamudez.org as many Latino parents do not know where to turn to help their kids who are stuttering.

[calislp]

Buddy,

Children already receive speech and language services through public school districts. Many times, it is the school in which initiates the referral process for special education. While yes, Parents do not pay a nominal fee, it is by no means free! The cost to provide these services is not cheap. Moreover, it is not as simple as "any child with any speech problem is entitled to free speech therapy." First, the child must be assessed and determined to be eligible. In order to be eligible, the child's impairment must impact his access to the curriculum, and even then the services provided must be in the least restrictive environment. Service delivery for speech therapy is a different model than it is in the private or medical settings. All services provided to the school must be tied to the curriculum. Also, to receive these services, the child must be enrolled in the school district. If the child is a private school student, then they may or may not be entitled to 10 therapy sessions in a year, which must be held during the school day and during the therapists regular schedule.

Parents can request a copy of their "rights" concerning special education directly by contacting the school, and these rights are generally more than 10 pages long and much more informative than a brochure.