Disassembling myths about stuttering: origin

He greater genetic analysis of stuttering to date has confirmed a solid hereditary base For this speech disorderhighlighting the neurological pathways involved. Posted in the magazine Nature Geneticshe study used data from more than one million of people whose DNA He was examined by 23Andme Inc.

The researchers located 57 regions of genome and 48 genes linked to the stammeringalso suggesting that the genetic architecture of this disorder overlaps with that of the autismthe depression and the musicality. These findings are paving the way for future researchwith the aim of perfecting the Early detection and develop potentials Therapies. In turn, a more complete vision of its causes could fight outdated ideas and reduce the stigma.

According to the doctor Jennifer (Piper) BelowDirector of the Institute of Vanderbilt geneticsstuttering characterized by repetitions, extensions and pauses, affects more than 400 million of people around the world, although their Origins They have remained largely unknown.

Young people who stutter suffer more frequently harassmentThey participate less in class and perceive their educational experience negatively. This disorder You can also harm Labor opportunitiesperformance and welfare social and mental.

“There have been hundreds of years of erroneous ideas about the causes of stuttering, from ideas about being left -handed to children’s traumas and authoritarian mothers. Instead of being caused by personal or family defects or by intelligence, our study shows that stuttering is influenced by Our genes”

Below and Dr. Shelly Jo Kraft, from the Wayne State University, began more than twenty years ago to explore the genetics of stuttering. Kraft collected samples of more than 1,800 people, but it was not until collaboration with 23Andme Inc. that a Gwas large -scale, with 99,776 cases and 1,023,243 controls.

When it appears

The stuttering of development usually manifests itself in children among 2 and 5 yearsrecovering spontaneously, with or without speech therapy, approximately the 80 %. Although at first it affects both sexes, persists more in male adults so GWas stratified by sex and ancestry were performed.

The genetic signatures They showed differences between men and women, possibly related to the Spontaneous recovery. An affirmative response in 23 Andme would reflect current stuttering in men and historical stuttering in women, according to Below.

Using these results, they built a polygenic risk score That stutter predicted in two independent cohorts, the international stuttering project and Add Health, although only the derivative of the male data was significant in both sexes.

“It is possible that what we measure in women in the 23Andme data will be affected by memory differently from what we measure in men, but we cannot determine it with the data we have. We hope that these results motivate future complex and detailed studies on the recovery of stuttering compared to sex.”

In addition, they found associations with neurological, metabolic, cardiovascular and others. The gene VRK2 He stood out in men, also linking with rhythm synchronization and the deterioration of the language in Alzheimer’s.

Dillon Testtpostdoctoral researcher and co -author of the study, stutter. “There are many unanswered questions about stuttering, and as a personally affected person, I wanted to contribute to this research. Our study revealed that there are many genes that, ultimately, contribute to the risk of stuttering, and we hope to use this knowledge to dissipate the stigma associated with stuttering and, hopefully, develop new therapeutic approaches in the future.”