According to the National Institute of Deafness and Other Communication Disorders, there are about three million people in the US who stutter. Since stuttering can make it difficult to communicate with other people, it can also take a toll on a person’s quality of life by negatively impacting job performance and employment opportunities.
Most current therapies for stutters involve years of speech therapy sessions. With that said, two recent papers from scientists at Vanderbilt University Medical Center (VUMC) and Wayne State University bring new hope for people experiencing such speech disruptions.
As part of their studies, the two authors created a “genetic architecture” for developmental stuttering, shedding new light on genetic variations associated with the condition, and thus paving the way for better therapeutic directions that could improve the lives of people who stutter.
After identifying new genetic variations associated with developmental stuttering, the authors used machine learning to narrow down a list of “phenotypes” linked to the condition. They then created an artificial intelligence tool that could be used to predict who is likely to experience the condition, “even in the absence of having a direct note about their stuttering in their medical record,” said Below.
“It’s clear that in populations, stuttering is polygenic, meaning that there are multiple different genetic factors contributing to and protecting people from risk,” said Jennifer ‘Piper’ Below, Associate Professor of Medicine at VUMC, and the author of one of the research paper. “That was something that had not been clearly shown before these studies.”
According to the author of the second paper, Shelly Jo Kraft, director of the Behavior, Speech & Genetics Lab at Wayne State University, the novel research will have a huge impact on people who stutter and on the parents of children affected by the condition, providing them with a clearer understanding of this speech impediment
“It’s a piece of themselves that they can then understand,” she said. “Instead of living a lifetime of experiencing this difference in their speech and never knowing why. ‘Why me? Why did this happen?’ Or for parents, ‘why did this happen to my child?’”
The research findings also established some genetic connections between stuttering and other traits such as ADHD, which could lay the foundation for new treatments that could target both conditions at the same time, explained Kraft.
The American Journal of Human Genetics — Phenome risk classification enables phenotypic imputation and gene discovery in developmental stuttering
Human Genetics and Genomics Advances — Population-based genetic effects for developmental stuttering