Stuttering Lurks in the DNA? -- http://www.pbs.org/wnet/need-to-know/health/stuttering-it-lurks-in-dna/9188/
Jeff Weaver
Stuttering: It lurks in DNA
Recent research has given millions of Americans hope that they can do more than merely manage the disorder.
May 9, 2011
When Cameron Coppen is enjoying his quieter adventures — playing basketball with his friends, Wii with his family or catch with his two dogs — this Louisville, Ky., boy with a gangly frame and tousled blond hair seems just like any other 10-year-old.
“When Cameron opens his mouth, though, his words come out in a stutter,” said his mother, Stephanie Coppen, co-chair of family programs for the National Stuttering Association in New York. “He has struggled with this problem from the age of 4, even though he’s been going to speech therapy twice a week since that time.”
Cameron’s condition — and that of the 3 million other Americans who stutter — is in the spotlight more than ever, thanks to the Oscar-winning film “The King’s Speech,” which chronicled how England’s King George VI overcame his all-too-public stutter. And this week, during National Stuttering Awareness Week, people affected by stuttering are raising awareness about recent scientific breakthroughs that show stuttering has a biological component — research that could lead to genetic tests and prescription drugs for the disorder.
Stuttering, a disorder that causes people to repeat or prolong syllables and disrupt their normal flow of speech, can sometimes be overcome through intensive coaching or speech therapy, as shown by the success cases of famous former stutterers: singer Carly Simon, actor James Earl Jones and Vice-President Joe Biden.
“We have breathing techniques and electronic devices that improve fluency, but if we had medications that treated the physical cause, that would help even more,” said Jane Fraser, president of the Stuttering Foundation, in Memphis, Tenn.
Like Cameron, whose cousin and grandmother have suffered from speech problems, Fraser is living proof of stuttering’s genetic component. The condition has run through four generations of her family, with one uncle, one aunt and two cousins currently affected. “My father, who stuttered severely, felt that if he had just worked harder, he would have been able to overcome this challenge,” said Fraser. “But he might have taken a different view — and no longer continued to blame himself — had he known this was physical and not just psychological.”
Colin Firth as the speech-challenged King George VI in "The King's Speech." Photo: ©2010 The Weinstein Company
Proof that stuttering is physical came in 2009, when Chinese scientists determined that the brains of people who stutter have elevated levels of dopamine, a neurotransmitter known as the “feel-good chemical” because it creates sensations of well-being. “Irregular dopamine levels were linked to genetic mutations in stutterers,” said Gerald Maguire, an associate professor of clinical psychiatry and the Kirkup chair of stuttering treatment at the University of California at Irvine School of Medicine. “Indeed, dopamine may play a role in up to 70 percent of stuttering cases.”
Problems with three other genes likely cause stuttering in an additional 9 percent of cases, found a 2010 study at the National Institute of Deafness and Other Communication Disorders. “All three of these genetic glitches affect how cellular components in the brain are broken down and recycled,” said lead researcher Dennis Drayna, a geneticist at the institute. “The enzymes in key brain cells either don’t function, or are misrouted to the wrong part of the cell.”
Since they realized that stuttering is linked to brain chemistry, scientists have discovered that the drugs asenapine, olanzapine and risperidone, which all affect neurons in the brain, are clinically effective in treating it. “The Food and Drug Administration has yet to approve these drugs for this use, but some doctors are prescribing these medications ‘off-label’ to stuttering patients,” Maguire said. “Doctors are allowed to do this because the FDA has already sanctioned these drugs as safe and effective for other uses.”
Could more stuttering treatments evolve from genetic research? Experts say the answer is likely yes and are giving closer scrutiny to the genes they’ve already isolated, testing a fourth drug called pagoclone, and examining whether implanting electrodes in the brain—recently approved to treat people with obsessive-compulsive disorder — can also help curb stuttering.
“Years ago, when I told Cameron there was no cure for his problem and that he might have it his whole life, he cried,” Stephanie Coppen said. “Like King George, he’s made progress in controlling his condition and has come to accept that it’s part of who he is. But it would be wonderful if he could some day be free of stuttering thanks to medication or another cure.”
Molly M. Ginty is an award-winning health reporter who has written for Ms., On the Issues, Women’s eNews, PlannedParenthood.org, Yoga Journal and RHRealityCheck.org.
Tags: dna, stuttering, The King's Speech
Stuttering: It lurks in DNA
When Cameron Coppen is enjoying his quieter adventures — playing basketball with his friends, Wii with his family or catch with his two dogs — this Louisville, Ky., boy with a gangly frame and tousled blond hair seems just like any other 10-year-old.
“When Cameron opens his mouth, though, his words come out in a stutter,” said his mother, Stephanie Coppen, co-chair of family programs for the National Stuttering Association in New York. “He has struggled with this problem from the age of 4, even though he’s been going to speech therapy twice a week since that time.”
Cameron’s condition — and that of the 3 million other Americans who stutter — is in the spotlight more than ever, thanks to the Oscar-winning film “The King’s Speech,” which chronicled how England’s King George VI overcame his all-too-public stutter. And this week, during National Stuttering Awareness Week, people affected by stuttering are raising awareness about recent scientific breakthroughs that show stuttering has a biological component — research that could lead to genetic tests and prescription drugs for the disorder.
Stuttering, a disorder that causes people to repeat or prolong syllables and disrupt their normal flow of speech, can sometimes be overcome through intensive coaching or speech therapy, as shown by the success cases of famous former stutterers: singer Carly Simon, actor James Earl Jones and Vice-President Joe Biden.
“We have breathing techniques and electronic devices that improve fluency, but if we had medications that treated the physical cause, that would help even more,” said Jane Fraser, president of the Stuttering Foundation, in Memphis, Tenn.
Like Cameron, whose cousin and grandmother have suffered from speech problems, Fraser is living proof of stuttering’s genetic component. The condition has run through four generations of her family, with one uncle, one aunt and two cousins currently affected. “My father, who stuttered severely, felt that if he had just worked harder, he would have been able to overcome this challenge,” said Fraser. “But he might have taken a different view — and no longer continued to blame himself — had he known this was physical and not just psychological.”
Colin Firth as the speech-challenged King George VI in "The King's Speech." Photo: ©2010 The Weinstein Company
Proof that stuttering is physical came in 2009, when Chinese scientists determined that the brains of people who stutter have elevated levels of dopamine, a neurotransmitter known as the “feel-good chemical” because it creates sensations of well-being. “Irregular dopamine levels were linked to genetic mutations in stutterers,” said Gerald Maguire, an associate professor of clinical psychiatry and the Kirkup chair of stuttering treatment at the University of California at Irvine School of Medicine. “Indeed, dopamine may play a role in up to 70 percent of stuttering cases.”
Problems with three other genes likely cause stuttering in an additional 9 percent of cases, found a 2010 study at the National Institute of Deafness and Other Communication Disorders. “All three of these genetic glitches affect how cellular components in the brain are broken down and recycled,” said lead researcher Dennis Drayna, a geneticist at the institute. “The enzymes in key brain cells either don’t function, or are misrouted to the wrong part of the cell.”
Since they realized that stuttering is linked to brain chemistry, scientists have discovered that the drugs asenapine, olanzapine and risperidone, which all affect neurons in the brain, are clinically effective in treating it. “The Food and Drug Administration has yet to approve these drugs for this use, but some doctors are prescribing these medications ‘off-label’ to stuttering patients,” Maguire said. “Doctors are allowed to do this because the FDA has already sanctioned these drugs as safe and effective for other uses.”
Could more stuttering treatments evolve from genetic research? Experts say the answer is likely yes and are giving closer scrutiny to the genes they’ve already isolated, testing a fourth drug called pagoclone, and examining whether implanting electrodes in the brain—recently approved to treat people with obsessive-compulsive disorder — can also help curb stuttering.
“Years ago, when I told Cameron there was no cure for his problem and that he might have it his whole life, he cried,” Stephanie Coppen said. “Like King George, he’s made progress in controlling his condition and has come to accept that it’s part of who he is. But it would be wonderful if he could some day be free of stuttering thanks to medication or another cure.”
Molly M. Ginty is an award-winning health reporter who has written for Ms., On the Issues, Women’s eNews, PlannedParenthood.org, Yoga Journal and RHRealityCheck.org.