The King’s Speech, nominated for a whopping 12 Oscars this Sunday, is the story of a stuttering King George VI of Britain, his impromptu ascension to the throne and the speech therapist who helped the unsure monarch become worthy of it. Stuttering has long been a mystery and now, for the first time, scientists have identified specific genetic alterations that have a part in this speaking impediment. In fact, a specific chromosome strand may be the culprit.
There are four factors most likely to contribute to the development of stuttering. First, genetics are a big factor (approximately 60% of those who stutter has a family member who does also). Second, child development (children with other speech and language problems or developmental delays are more likely to stutter). Third, neurophysiology (recent neurological research has shown that people who stutter process speech and language slightly differently than those who do not stutter) and finally, family dynamics (high expectations and fast-paced lifestyles can contribute to stuttering).
Dr. James F. Battey, Jr., director of the National Institute on Deafness and Other Communication Disorders (NIDCD) states in response to the Feb 10 research published in The New England Journal of Medicine:
“For hundreds of years, the cause of stuttering has remained a mystery for researchers and health care professionals alike, not to mention people who stutter and their families. This is the first study to pinpoint specific gene mutations as the potential cause of stuttering.”
Stuttering tends to run in families, and researchers have long suspected a genetic component. Previous studies of a group of families from Pakistan pointed to chromosome 12 as a site that may be involved in the disorder.
In the current study, researchers identified mutations in a gene known as GNPTAB in the affected family members. The GNPTAB gene is carried by all higher animals, and gives cells instructions for making an enzyme that assists in breaking down and recycling cellular components. The scientists also looked at two other genes which are closely tied to the role of GNPTAB. They found individuals who stuttered showed mutations in these genes while control groups did not.
These same genes are also related to certain metabolic disorders that hinder the ability to properly break down cell waste, causing deposits to build up in their cells. These deposits can ultimately cause health problems in the body’s joints, skeletal system, heart and liver, as well as developmental problems in the brain. They are also known to cause problems with speech.
Right now, about 9% of people who stutter are known to possess mutations in one of the three genes, the research states. Next, they plan to conduct a worldwide study to better determine the number of people who carry these mutations. A long-term goal is to better understand how metabolic defects may affect structures within the brain that are essential for fluent speech.
Stuttering is a speech disorder in which sounds, syllables, or words are repeated or prolonged, disrupting the normal flow of speech. These speech disruptions may be accompanied by struggling behaviors, such as rapid eye blinks or tremors of the lips. Stuttering can make it difficult to communicate with other people, which often will affect a person’s quality of life.
Jane Fraser, president of the Stuttering Foundation is thrilled with this newfound international exposure. Her father, Malcolm Fraser, had a severe stutter. He in fact started the Stuttering Foundation back in 1947.
“We have a world-class, superb actor showing us how devastating it is to stutter.”
So enjoy the show everyone, and much luck to British actor-writer-comedian Michael Palin this Sunday evening.
Written by Sy Kraft, B.A.