Sometimes words fail

In the lab and on the screen, stuttering gets its close-up.

Jessica Pauline Ogilvie

Special to the Los Angeles Times

November 29, 2010

Robin Sullivan was 10 when she first began looking for information about her stutter. She'd had the speech disorder for as long as she could remember — one of her earliest memories is of lying on a table practicing breathing exercises.

She wasn't bullied or teased, she says; she just felt ignored. "I went to the library, and I read everything I could get my hands on," she says. "I was looking for that feeling of not being alone."

It took Sullivan, now in her early 40s, until high school to find the help that she needed. "Up until then I felt out of control, helpless," she says.

An estimated 3 million American adults have a stutter that didn't resolve in childhood, according to the nonprofit Stuttering Foundation of America. As kids, many dealt with the giggles of classmates and confusion of teachers; as adults, they often deal with uncertain glances and the impatience of strangers. They've long sought comfort from each other, sharing their experiences at conferences and advocacy groups. Now, with the release of "The King's Speech," a critically acclaimed movie starring Colin Firth as King George VI, the so-called stuttering prince, many hope that the public will begin to comprehend their struggles.

There's no cure for stuttering — "I have good speech days and bad speech days," Sullivan says — but researchers and experts have made strides in understanding the complicated disorder. They've found versions of genes linked to stuttering risk; they've found differences in the brains of stutterers too. Both may offer clues to the roots of the speech block and, maybe, point the way toward medical therapies one day.

Stuttering affects about 1% of the adult population worldwide, and four times as many men as women. The disorder is classified by disruptions that happen during speech; people who stutter may alternately repeat part of a word multiple times, or be unable to produce sound at all.

"It's like time stops for a moment," says Sullivan of her own stutter. Her lips and face tense up, and even as she hears conversations and activity continuing around her, for the brief minute that her mouth refuses to form words, she's on the outside of it all. "You feel stuck," she says. "Just plain stuck."

As children first learn to speak, stuttering isn't unusual: Nearly 5% of kids around the age of 3 or 4 have trouble with fluency. In four out of five of those children, stuttering resolves on its own. It's unclear what causes the remaining children to retain the disorder, but experts believe that the answer may lie in family history.

In fact, approximately 60% of people who stutter have family members with the disorder, according to the Stuttering Foundation of America. And in a study published in the New England Journal of Medicine in February, government researchers uncovered the first genetic mutations that may be at the root of the problem for some. In a large family with a strong history of the disorder, mutations in one of three genes — known as NPTAB, GNPTG and NAGPA — were found in some affected participants.

Though it's progress, experts aren't sure how the three genes lead to stuttering, and the findings don't go far in explaining the disorder in the entire population.

"Mutations in these genes account for about 9%" of stuttering cases, estimates Dennis Drayna, a genetics researcher at the National Institute on Deafness and Other Communication Disorders, who co-authored the study. To make things more complicated, not everyone with the gene will develop a stutter, he adds.

Researchers are also looking for neurological differences in people who stutter. They've found several.

Among people who stutter, a number of brain regions responsible for movement control (including movement associated with speech) are overactive in the right hemisphere. Experts believe that this is a result

of the right hemisphere making up for a defect in the left. (In people who speak fluently, the left hemisphere is the dominant one for language.)

Parts of the left hemisphere "never fully develop" in stutterers, suggests Dr. Gerald Maguire, director of the Kirkup Center for the Medical Treatment of Stuttering at UC Irvine. "So the right hemisphere begins to compensate."

The longer a person stutters, Maguire adds, the more the right hemisphere compensates and the stronger the brain imbalance grows.

Scientists also believe that key differences between stutterers and non-stutterers lie in parts of the brain that compose what's called the basal ganglia. These structures, located toward the center of the brain, together play a complex role in the smooth timing and initiation of movements. Recent research has confirmed that the severity of stuttering correlates with the level of activity in the basal ganglia — and that this activity improves after participants undergo speech therapy.

In a 2004 literature review, Swedish researcher Per A. Alm suggested that in people who stutter, the basal ganglia are probably dysfunctional in their ability to properly start, and rhythmically time, speech. His theory that stuttering is, at least in part, a timing issue is supported by the fact that singing, speaking with a metronome or speaking in unison with other people often helps to improve the fluency of people who stutter.

Researchers are also examining whether activity of a nerve-signaling chemical called dopamine, which is responsible for regulating the basal ganglia, might be dysfunctional in people who stutter. In a 2009 study of 112 people who stutter and 112 who don't, researchers in China found that stutterers were more likely to have a mutation in several genes that regulate dopamine.

It's not nervousness

Whatever the future may reveal about the physiological underpinnings of stuttering, there is one point on which experts agree: Stuttering is not an emotional disorder.

"The most common misconception about people who stutter is that it's a sign of nervousness. That's not true — people who have anxious personalities do not have a higher degree of stuttering," says speech language pathologist Phil Schneider, who has several offices in and around New York City.

And yet those who stutter deal with this "it's just nerves" misconception on a regular basis. "If I had a dime for every time I heard, 'Slow down, relax, take a deep breath, think before you speak,'" Sullivan says, "I'd be wealthy."

Although the disorder isn't caused by anxiety, it can be exacerbated by anxiety. And for many who stutter, the very act of speaking is anxiety-inducing. "You're always on the alert for sounds or words that might strangle you," Sullivan says. People who stutter therefore often develop specific fears: it may be speaking in front of crowds, it could be talking on the telephone. When speech-language pathologists begin treatment, Schneider says, one of the initial issues they address is often emotions associated with stuttering — giving people an opportunity to talk about their feelings.

From there, therapists help clients learn physical exercises to make their speech more fluent. The most widely used methods are ones that slow the speed of speech: prolonging the first sound or syllable of a word, pausing more frequently during speech, or easing gently into a word by starting with a humming noise.

"Stuttering is speed-sensitive," Schneider says. "The faster you go, the more likely you will have interruptions."

In treating children, parents are a key component. Specialists may recommend that parents set aside a few quiet minutes every day to talk to their child, model slow speaking and talk openly about the problem.

"What we try to emphasize with children and adolescents is the notion that what the child is saying is far more important than how he or she is saying it," said Tommie Robinson, president of the American Speech-Language-Hearing Assn.

Speech therapy may last anywhere from a few sessions to a lifetime. But the exercises are often difficult, and for that reason, Schneider often suggests practicing them for no more than a few minutes each day.

"To use the brain to think about speaking [instead of] what you want to say — it's like trying to walk backwards all day long," he says.

No medication is approved by the Food and Drug Administration to treat stuttering. But doctors occasionally prescribe drugs off-label that have been shown to help, including antipsychotic drugs such as risperidone and olanzapine, which affect brain levels of dopamine. And some people who stutter find relief from anti-anxiety medication.

Recently, experts had high hopes for a drug called Pagoclone, but it failed in a trial to meet the goals of its manufacturer, Endo Pharmaceuticals, and it's unclear whether further trials of the drug will take place.

As more is understood about the genetics and the brains of people who stutter, researchers hope that medication aimed directly at the disorder eventually will become available. "The basal ganglia [could be] the target of our medication," Maguire says. "If we fix the timer or initiator [of speech] then we can jump-start the whole system."

For now, Sullivan says, many who stutter find solace in meeting others who struggle with similar issues, and in knowing that there are resources available. She runs regular stuttering support groups in the San Fernando Valley area, to help others find the community she sought as a child.

"If one teenager, one kid, finds out they're not alone," she says, "I'll have come full circle."