Dysphemia or stuttering is a speech fluency disorder. Photo: taken from visualia-coc.es

Complexity of Stuttering’s Genetic Architecture Revealed

A macro-study analyzed more than one million people and revealed the complex genetic architecture of stuttering. Which currently affects 400 million people worldwide.

The research, published this Monday in the journal Nature Genetics, was led by researchers at the Vanderbilt Genetics Institute in Tennessee and is the largest study of stuttering to date.

The results identify 48 genes associated with this disorder and outline a shared genetic architecture between it and others such as autism, depression, and musicality.

They identify 57 different genomic loci (the specific physical location of a gene or genetic marker on a chromosome) associated with stuttering.

According to the researchers, the discovery could lead to a better understanding of the causes and replace outdated ideas about stuttering that generally contribute to the stigma surrounding those who stutter.

It is the most common speech fluency disorder, and according to the study’s leader and director of the Vanderbilt Genetics Institute in the United States, there have been hundreds of years of misconceptions about the causes of stuttering. Ranging from ideas about being left-handed to childhood trauma and overbearing mothers.

Below emphasized that this study shows that stuttering “is influenced by our genes,” rather than being caused by personal or family defects or intelligence.

The expert explained that the topic has been very little studied because those affected do not require hospitalization, but it can have enormous consequences on quality of life.

We need to understand the risk factors for speech and language traits so we can identify children early and provide appropriate care to those who need it, Below argued.

Research details that developmental stuttering is a common and highly heritable speech disorder characterized by prolongations, blocks, and repetitions of speech.

While it is highly heritable and runs more frequently within families, its genetic architecture has been little studied.

The scientists behind this study reasoned that there are shared and distinct genetic variants that influence the risk of stuttering based on sex and ancestry.

They posit that at the societal level, people who stutter often report negative perceptions of identity and self-esteem, and an overall reduced quality of life.

Furthermore, young people who stutter experience greater bullying and lower classroom participation, and report a more negative educational experience. Stuttering is associated with depression and suicidal ideation in this population.

In adults, stuttering can negatively affect employability, perceived job performance, socioeconomic status, and mental and social well-being.

With information from Prensa Latina