{"id":3422,"date":"2022-05-16T19:41:49","date_gmt":"2022-05-16T19:41:49","guid":{"rendered":"https:\/\/medschool.prd.vanderbilt.edu\/vanderbilt-medicine\/?p=3422"},"modified":"2022-05-17T14:33:19","modified_gmt":"2022-05-17T14:33:19","slug":"when-words-fail","status":"publish","type":"post","link":"https:\/\/medschool.vanderbilt.edu\/vanderbilt-medicine\/when-words-fail\/","title":{"rendered":"When Words Fail"},"content":{"rendered":"
\"\"
Illustration by Matt Chase<\/figcaption><\/figure>\n

In the 2010 film, \u201cThe King\u2019s Speech,\u201d a speech therapist helps the king of England overcome a significant stutter so that he can address the nation at the outbreak of World War II.<\/p>\n

If only it were that straightforward.<\/p>\n

For those who stutter, and there are millions of people of all races and cultures, the inability to converse fluidly can be a lifelong challenge, even with the best available treatments. It is a life filled with fits and starts, advances and retreats, triumphs and defeats.<\/p>\n

Beyond the repetitions, the prolongations and blocks in the flow of speech is the physical struggle \u2014 the grimaces, the averting of the eyes, the avoidance of stressful situations that might put one\u2019s stuttering on display for all the world to stare at, tease, and even bully.<\/p>\n

\u201cA person who stutters may have very negative thoughts and feelings about themselves as a communicator or their ability to engage in everyday life activities,\u201d says Robin Jones, PhD, assistant professor of Hearing and Speech Sciences at Vanderbilt University Medical Center<\/a>.<\/p>\n

\"\"
Robin Jones, PhD, delves into speech pathology research to help others who stutter. Photo by Susan Urmy.<\/figcaption><\/figure>\n

\u201cYou may avoid speaking situations, opportunities or jobs,\u201d Jones says. \u201cA person can be at a good place, and then get a promotion and have to take on extra tasks and extra speaking pressures, and then the stuttering can get worse.\u201d<\/p>\n

Settling for a less stressful career choice, gingerly navigating the vagaries of everyday life in a world filled with speech \u2014 all of that can take a toll. It\u2019s worse if, like most people who stutter, \u201cyou feel isolated and alone, like you\u2019re the only person who has this challenge,\u201d he says.<\/p>\n

Jones should know. The Ohio native has stuttered for as long as he can remember. He\u2019d had speech therapy for many years \u201cwithout any remarkable change,\u201d when as an undergraduate at Ohio\u2019s Miami University, he encountered Paul J. Malott, PhD, an expert on stuttering.<\/p>\n

Malott, who stuttered himself, taught Jones ways to modify how he spoke and communicated so that his speech flowed more easily, and invited him to participate in group treatment with other people who stuttered. The experience, says Jones, was \u201clife-changing.\u201d<\/p>\n

\u201cIt totally changed my perception about stuttering,\u201d he recalls. \u201cI really became a lot more confident as a communicator \u2026 I stopped avoiding speaking situations.\u201d Another big thing happened. Jones decided to go into speech pathology research to help other people, just as his mentor had helped him.<\/p>\n

 <\/p>\n

A pressing clinical issue<\/strong><\/p>\n

Jones went to The Ohio State University (OSU), where he completed his clinical training and earned his master\u2019s degree in speech pathology. In 2008 he came to Vanderbilt to pursue his PhD in the\u00a0Department of Hearing and Speech Sciences under Edward Conture, PhD, an internationally known expert on developmental stuttering.<\/p>\n

Vanderbilt University Medical Center (VUMC) is home to the Vanderbilt Bill Wilkerson Center<\/a>, a nationally known research, training and treatment center for children and adults with hearing loss, language and speech disorders, brain injuries and other diseases of the ear, nose, throat, head and neck.<\/p>\n

Founded in 1951 by Nashville ear, nose and throat physician Wesley Wilkerson, MD, and named for his son Bill, who had been killed in World War II during the Battle of the Bulge, the center merged with VUMC in 1997.<\/p>\n

Treatment provided by the center\u2019s speech language pathologists who have expertise in stuttering can and does result in \u201ctruly remarkable and life-changing impacts on a person\u2019s communication and overall quality of life,\u201d Jones says.<\/p>\n

For example, children who attend the center\u2019s annual summer Camp TALKS (Talking And Learning with Kids who Stutter), and who are exposed to other people who stutter, including adults, often experience dramatic improvements in their communication.<\/p>\n

\u201cThey still stutter,\u201d Jones says, \u201cbut in some ways they have overcome it.\u201d<\/p>\n

After earning his PhD and completing postdoctoral work at OSU, Jones returned to Vanderbilt and joined the faculty in 2013. He resolved to provide treatments that helped his clients increase the spontaneity of their speech while mitigating the negative impact of their stuttering.<\/p>\n

\u201cIt\u2019s about supporting them in communicating what they want, when they want and with whom they want,\u201d Jones says. \u201cBroadly, it\u2019s about helping them unlock their communication.\u201d<\/p>\n

But still he wondered: Why is it, that of the developmental stutterers, those who begin to stutter between the ages of 2 and 4, 75-85% eventually \u201cgrow out of it,\u201d often without any speech therapy or treatment at all?<\/p>\n

And for the rest, for those who continue to stutter in their later school-age years, into adolescence and adulthood, why does the vulnerability and characteristic to stutter persist \u2014 often for the rest of their lives?<\/p>\n

The inability to distinguish children who eventually will stop stuttering from those whose stuttering will persist \u201cis one of the most pressing clinical issues that we face currently,\u201d Jones says.<\/p>\n

To identify \u201cpredictors\u201d of persistent stuttering, he and his colleagues conduct longitudinal studies of children beginning at age 3 or 4, close to the onset of developmental stuttering, and track them over time.<\/p>\n

The goal of prediction is to provide, as early as possible, the most helpful treatments to children identified as being at risk of persistent stuttering. While the researchers have made progress in this area, \u201cthere is still room for significant improvement,\u201d Jones said.<\/p>\n

 <\/p>\n

The genetic roots<\/strong><\/p>\n

In 2015 the ground shifted with the arrival of Nancy Cox, PhD, an internationally known expert on human genetics at the University of Chicago. Cox had done foundational work on the genetics of stuttering with Nicoline Grinager Ambrose, PhD, and Ehud Yairi, PhD, at the University of Illinois Urbana-Champaign.<\/p>\n

Cox\u2019s recruitment to Vanderbilt, as director of the Division of Genetic Medicine in the Department of Medicine, and founding director of the Vanderbilt Genetics Institute, burnished VUMC\u2019s standing as a powerhouse of genetic, clinical and translational research.<\/p>\n

\"\"
Nancy Cox, PhD, is the founding director of the Vanderbilt Genetics Institute. Photo by Erin O. Smith.<\/figcaption><\/figure>\n

A centerpiece of that research enterprise is BioVU, today the most comprehensive collection of human DNA and other biological materials stored at a single site.<\/p>\n

DNA samples extracted from discarded blood collected at VUMC during routine clinical testing are linked to a \u201csynthetic derivative\u201d \u2014 a copy of electronic health records from which patients\u2019 personal identifying information has been removed.<\/p>\n

This linkage enables researchers to study the genetics of a wide range of health conditions, from cancer and heart disease, to now, possibly, stuttering.<\/p>\n

About this time, Jones received an inquiry about the graduate program in Hearing and Speech Sciences from Dillon Pruett, a young man from Puyallup, Washington, about 35 miles south of Seattle.<\/p>\n

Like Jones, Pruett had stuttered since about the time he began to string words together. Despite years of speech therapy, he continued to stutter in middle school.<\/p>\n

Pruett endured the teasing. He wasn\u2019t one to shrink from a challenge. In eighth grade he decided to run for student body president, even though it required that he give a speech to the entire student body.<\/p>\n

Pruett\u2019s speech was broadcast to classrooms throughout the school. It did not go well. \u201cI was stuttering very severely,\u201d he recalls. \u201cThe whole school knew. Teachers had to tell their classes that it was not appropriate to laugh.\u201d<\/p>\n

Pruett did not win the election. But he didn\u2019t retreat from life, either. In high school he served as Honor Society president and Key Club vice president and was on the student council. \u201cI didn\u2019t want stuttering to hold me back,\u201d he says.<\/p>\n

In the fall of 2010, as a freshman at the University of Washington in Seattle, Pruett saw \u201cThe King\u2019s Speech.\u201d While he felt the movie\u2019s portrayal of stuttering was largely accurate, he took issue with its take-home message, \u201cthat if you just try, really try, you won\u2019t stutter.\u201d<\/p>\n

Still, the movie \u201copened the door for people to have some idea of what stuttering can look like and how it can feel,\u201d he says. \u201cThat was helpful.\u201d<\/p>\n

Initially Pruett wanted to go to medical school, but within a few months he had become deeply interested in stuttering research and \u2014 in particular \u2014 the genetic aspects of stuttering.<\/p>\n

\"\"
Dillon Pruett, a graduate student in Hearing and Speech Sciences, knows firsthand the challenges of living with a stutter. Photo by Erin O. Smith.<\/figcaption><\/figure>\n

He volunteered in the Laboratory for Speech Physiology and Motor Control directed by neuroscientist Ludo Max, PhD. Among other projects, the lab explores the neuromotor and neurophysiological mechanisms underlying stuttering.<\/p>\n

That\u2019s when Pruett decided to pursue a research career. \u201cIt struck me as a missed opportunity,\u201d he says, \u201cthis chasm between the historical study of stuttering and the biosciences.\u201d<\/p>\n

Pruett began to look for a place that combined the two. That brought him \u2014 in the fall of 2015 \u2014 to Vanderbilt as a graduate student in Hearing and Speech Sciences.<\/p>\n

\u201cThe integration of research and clinical care is a true strength of the Bill Wilkerson Center,\u201d he says. \u201cIt\u2019s been really cool to be a part of that.\u201d<\/p>\n

With Cox\u2019s encouragement, in 2016 Jones and his new graduate student began to explore the potential of BioVU<\/a> to plumb the genetic roots of stuttering.<\/p>\n

But there was a problem. In the matched electronic health records, Jones and Pruett found to their surprise that the word \u201cstuttering\u201d could just as well describe an unusual gait, characterized by a hesitancy in taking steps, or random, unstable angina (chest pain).<\/p>\n

Of approximately 1,800 records they reviewed that contained the keyword \u201cstuttering,\u201d only about 10% could be confirmed as a developmental stuttering case.<\/p>\n

Help came in 2017 with the recruitment of Jennifer \u201cPiper\u201d Below, PhD, from the University of Texas Health Science Center at Houston.<\/p>\n

Below was engaged in a major study of the genetics of stuttering with an international expert on the subject, Shelly Jo Kraft, PhD, director of the Behavior, Speech & Genetics Lab at Wayne State University in Detroit.<\/p>\n

They\u2019d met in 2010 at the University of Chicago, where Below was working toward her PhD in Human Genetics and Kraft was a postdoctoral scholar.<\/p>\n

Kraft arrived at Wayne State in 2011 and, with the help of colleagues in Ireland, England, Israel, Sweden, Australia and the United States, she began collecting blood and saliva samples from people who stutter.<\/p>\n

Over the years the researchers collected samples from more than 1,800 people who stutter, including more than 250 families with three generations of stuttering.<\/p>\n

Called the International Stuttering Project (www.theinternationalstutteringproject.com<\/a>), the effort identified new genetic variations, or variants, associated with developmental stuttering. However, it was not sufficiently \u201cpowered\u201d to reveal the complexity of the condition. There simply were not enough people in the studies.<\/p>\n

Below\u2019s move to VUMC was crucial. Like Jones and Pruett, she realized the potential of BioVU to unlock the genetic mysteries of stuttering.<\/p>\n

But because developmental stuttering is rarely mentioned or given a diagnostic code in the medical record, \u201cwe had to come up with some clever new ways to try to capture that missing code,\u201d she says.<\/p>\n

\"\"
Jennifer Below, PhD, taps into the potential of BioVU to unlock the genetic mysteries of stuttering. Photo by Donn Jones.<\/figcaption><\/figure>\n

From confirmed cases of developmental stuttering, the researchers constructed a \u201cconstellation\u201d of diagnostic codes for other conditions such as attention-deficit hyperactivity disorder (ADHD) and autoimmune reactions to infections that co-occur with stuttering more frequently than would be expected by chance.<\/p>\n

Then, using machine learning techniques, they created an artificial intelligence tool that used the presence of these \u201cphenotypes\u201d recorded in the electronic health record to predict those who were likely to stutter, \u201ceven in the absence of having a direct note about their stuttering in their medical record,\u201d Below says.<\/p>\n

Supported by a $3.5 million, five-year grant awarded in 2018 by the National Institute on Deafness and Other Communication Disorders, part of the National Institutes of Health, the researchers demonstrated that their stuttering prediction model positively predicted the presence of stuttering more than 80% of the time.<\/p>\n

In two papers published in December 2021, Below, Kraft and their colleagues reported their results, what they called a \u201cgenetic architecture\u201d for developmental stuttering, as well as the discovery of new genetic variations associated with the condition. Jones and Pruett were among the co-authors.<\/p>\n

Among other insights, the research turned up a stuttering-related gene implicated in autism-spectrum disorder, as well as genetic variants that affect the regulation of sex hormones. The latter finding may help explain why boys are more likely to stutter, and why women who stutter are more likely to overcome it.<\/p>\n

 <\/p>\n

Tip of the iceberg<\/strong><\/p>\n

The researchers believe that studies like these have the potential to identify therapeutic directions that could improve outcomes for people who stutter.<\/p>\n

\u201cIt\u2019s clear that in populations, stuttering is polygenic, meaning that there are multiple different genetic factors contributing to and protecting people from risk,\u201d says Below, associate professor of Medicine at VUMC. \u201cThat was something that had not been clearly shown before these studies.\u201d<\/p>\n

The papers, published in The American Journal of Human Genetics and Human Genetics and Genomics Advances, will not immediately change health outcomes for people who stutter. But they \u201copen the floodgates for the kind of research that may one day lead to that,\u201d she adds.<\/p>\n

Jones believes the research may lead to breakthroughs in understanding, and potentially treating the \u201ccore, causal mechanisms\u201d of developmental stuttering. \u201cI think this is just the tip of the iceberg,\u201d he says.<\/p>\n

The new revelations also will have a huge impact on people who stutter and on the parents of children affected by the condition.<\/p>\n

\u201cIt\u2019s a piece of themselves that they can then understand,\u201d Kraft says, \u201cinstead 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?\u201d<\/p>\n

Adds Jones: \u201cIf we identify genes that confer a high risk for persistent stuttering, then we can provide early intervention for those children and their families. That is my hope.\u201d<\/p>\n

Below says the biobank study would not have been possible were it not for the case studies compiled by Kraft and her colleagues, which confirmed that the \u201cgenetic architecture we\u2019re picking up in this large-scale biobank study actually is detecting risk factors for clinical stuttering.\u201d<\/p>\n

Researchers from private speech clinics in Dublin, Ireland, Curtin University in Perth, Australia, and the University of North Carolina at Chapel Hill contributed to the research. The National Stuttering Association, Irish Stammering Association and other organizations have supported the research by sponsoring collections.<\/p>\n

Some correlations between traits may be spurious. But if the researchers establish genetic connections between stuttering and other traits such as ADHD, those findings could open avenues for treating both conditions at the same time, Kraft says.<\/p>\n

Kraft and her colleagues are expanding their health inventories of people who stutter to capture more co-occurring conditions. \u201cWe can power these studies with electronic databases,\u201d she says, \u201cbut we need people who stutter, who can give their individual stories and \u2026 the complexity of everything they are experiencing to validate the results.\u201d<\/p>\n

Jones agrees. \u201cThere\u2019s an incredible heterogeneity of stuttering, such a wide range of experiences that people have,\u201d he says. \u201cIt\u2019s important to view it through the lens of the individual. A person may experience negative attitudes surrounding stuttering \u2026 like bullying (and) microaggressions.\u201d<\/p>\n

On the other hand, \u201ca lot of positive things have come from my experience with stuttering,\u201d Jones continues. \u201cI\u2019ve had the opportunity to meet some incredible individuals and have had profound experiences.\u201d<\/p>\n

Still, \u201ccommunication is a quintessential aspect of the human experience,\u201d he says. \u201cAs a person who stutters, who knows exactly what they want to say but can\u2019t get the words out, that can have a monumental impact on an individual.<\/p>\n

\u201cWhatever we\u2019re able to do to help a person say what they want to say is worth it.\u201d<\/p>\n

 <\/p>\n

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