Stuttering Gene, Is it True?


New England Journal of Medicine published a report suggesting that certain mutated genes are associated with some of the stuttering individuals. The study was conducted on an extended Pakistani family (consanguineous) who had high rate of stutterers among them. Here is the link to the short version.
scientists http://www.sciencenews.org/view/generic/id/56232/title/Mutations_may_underlie_some_stuttering
OR for the full version http://content.nejm.org/cgi/reprint/NEJMoa0902630v1.pdf
available on line.

I have heard things like issues with parents, over bearing mother, emotional problem being the potential cause of stuttering. Some stutterers stutter with short consonants, some stutter with repetitive short phrases. Some stutter definitely more when angry, nervous, upset, some stutter ALL THE TIME. Some others overcome stuttering as they grow old, the others do not and battle that all their lives into the entire adulthood. Except for the fact that familial tendency was recognized in many cases, this is the first time the scientists actually narrowed down and were able to identify something tangible. But of course, this could be only one of the reasons just like BRCA 1 , 2 for breast cancer genes. Very much multifactorial.

Practical application of this study result is-------don't know at this time. These were just some thoughts that crossed my mind reading this.
1. It would not improve anyone's treatment or strategy for remedy.
2. No insurance company would agree to genetic testing for stuttering even if such a test becomes readily available if it does not lead to a drastic change in the outcome or improvement.
3. Knowing the genetic tendency in some gives reason to accept or some may feel doomed about it.
4. This study on consanguineous family may not be fully applicable to the general public without as thick of a blood tie. But I am not a biologist, what would I know? Could anyone explain that the mutation was caused by some sort of spinned effect of the consanguinity?
5. OK, am I to feel relieved that my son's stuttering is here to stay and that it is just something to accept, just in case it is in his genes? (unlikely we come from genetically very unrelated background but who knows swedes and japanese have secret ties in the history no one knew about).
6. Would this change how they explain stuttering and its pathogenicity for Speech Language Pathologist's education? Probably not, too early to tell but it certainly gives an added angle to look at the problem hoping to explain the phenomena/non better.

But, this published study is an amazing accomplishment indeed.

Stuttering is associated with social stigma, that is why we want the cure for this condition. It makes you look less intelligent or less informed. I watched how my son spoke to the judges about his Science project. It was painful to watch knowing that he was fighting the urge to stutter by slowing his speech so much. Some days, unrecognizable phrase pours out of my son's mouth repeatedly without making any sense. "You only have to say it once, you know" ,We casually deal with it with as light hearted response to it as possible if we make any comments. I have asked to mentally visualize a metronome at the beat of Andante,----walking like tempo---- hoping to teach him to pace himself. If stuttering is here to stay in his life, that is fine for us. I would rather have him the way he is than causing any more undue stress thinking that he has to improve yet one more thing when he does so many things well and when he has such nice personality.

Mother's heart is full of gratitude, he has so many qualities. If stuttering makes him look less informed or intelligent when he speaks, that is a loss to those who view it that way. He has so much packed in his mind to share if you take time with him. He is not a dumb kid. I remember a boy in my junior high class who stuttered. He was not treated very kindly although he was very smart. Other students teased him about it so he never spoke much in School. He talked to us, a few kids in the class who were just normal in the way we interacted with him, stuttering or not.
If my son's verbal skill does not help him to express, he perhaps cultivates other ways to express himself. Some kids do not have a strong need to express any way. Well, that is my son. But I know his mind expresses so much within. I can see the neurons connecting and firing at the speed no one can imagine but his expression is often silent. You see it in his eyes and I see it in his smiles. And, of course he expresses it through his fingers as some of my family and friends have heard. I just pray that he would always be blessed with patient friends, teachers or coworkers in the future who wait and listen when his words do not flow out as smoothly. Believe it, it is up there.

There is NOTHING wrong with him, nothing at all.




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