Sophie Genetics of Stuttering Study Interview

Unraveling the Genetics of Stuttering

Researchers from the NHMRC Centre of Research Excellence in Speech and Language are calling for 3,000 Australians aged seven and above with experience of stuttering (past or present) to volunteer for the nation's largest ever Genetics of Stuttering Study.

The study aims to pinpoint the genes that predispose individuals to stuttering, which could revolutionise future research into the causes, treatment and prevention of the disorder.

Winner of The Voice Australia 2013 who has lived with stuttering since childhood, Harrison Craig, now 23, Melbourne, is teaming with study researchers and those who stutter nation-wide today, to lend his voice to this worthy cause.

The Murdoch Children's Research Institute, Walter and Eliza Hall Institute of Medical Research, QIMR Berghofer Medical Research Institute, Griffith University and the University of Melbourne are coordinating the Australian arm of this international study which involves 10 investigators at eight sites in Australia, the UK and The Netherlands. Recruitment closes December 2019.

According to Professor Angela Morgan, Co-Chief Study Investigator, speech pathologist and NHMRC Practitioner Fellow, Murdoch Children's Research Institute, Melbourne, boys and girls aged seven and above, together with men and women nation-wide who have a history of stuttering, may volunteer for the study.

"We are urgently seeking volunteers for our ground-breaking -Genetics of Stuttering Study'. Participation in our study is free and easy. Volunteers simply complete a 10-minute online survey and record a short sample of their speech. Those who qualify will be invited to provide a saliva sample for DNA analysis, to enable researchers to unravel the genes that predispose people to stuttering. Study participants will be making a genuine contribution to solving this disorder."

Stuttering is a disability that affects normal verbal fluency, and verbal communication – particularly the rhythm or flow of speech.

Although the exact cause of stuttering is unknown, genetics has been found to play a role, and a number of genetic variants have been identified to date.

"Globally, one per cent of adults stutter, and nearly 70 per cent of people who stutter report a family history of the disorder," said Prof Morgan.

"Importantly, gender is one of the strongest predisposing factors for stuttering. Boys are two-to-five times more likely to stutter than girls, and they are also less likely to recover spontaneously."

Harrison's family first identified his stutter at around four years of age while listening to him speak, and watching him "get stuck" when expressing certain sounds or words. Harrison continued to combat the speech disorder throughout childhood, adolescence, and into adulthood, and still recalls the anxiety he experienced when speaking publicly, or in social situations. Post- diagnosis, Harrison underwent rigorous treatment to learn how to better control his stutter.

"My treatment to date, has been effective to a degree, but I'm not sure free speech will ever come naturally to me. The truth is, to simply speak in social situations can be very exhausting," Harrison said. It was through music that Harrison finally found his true "voice", especially winning The Voice Australia 2013.

"To win The Voice Australia was something so special. I was really overwhelmed with happiness when I won," said Harrison.

Harrison is lending his voice to the Australian Genetics of Stuttering Study "to make a genuine difference to the lives of Australians who, like me, live with stuttering.

"Very little is understood about why people stutter, but I have faith that Professor Morgan and her associate researchers can make strong progress towards unlocking the mysteries of the human brain, and in turn, stuttering," Harrison said.

Australians who currently stutter, or have a history of stuttering, and wish to volunteer for the Genetics of Stuttering Study, or to learn more, can head to www.geneticsofstutteringstudy.org.au

Interview with Sophie

Sophie, 26, Melbourne works as a geospatial cartographer, designing utility maps for power, rail and gas networks. In her spare time, she pursues photography, singing and playing the guitar. Yet Sophie's honed technical skills and self-confidence have been hard-won, for she has lived with a stutter for most of her life.

At three years of age, Sophie's kindergarten (pre-school) teacher first identified Sophie's 'challenge" with speech – a speech disorder that she would continue to battle throughout her schooling years, and into adulthood.

Sophie, who has a family history of stuttering, has completed a variety of smooth speech courses over the years, and worked with a plethora of speech therapists and speech pathologists to improve her spoken word. Nowadays, her speech has significantly improved, along with her confidence, ten-fold.


Question: Can you talk about your first memory of realising your stutter?

Sophie: I didn't really realise I had a stutter at the time my mother told me it developed, it was more of a slow realisation. I was about 4 or 5 at the time, but I don't think I fully realised it until I was about 9 years old. It frustrated me at times when I couldn't get the words out, and the times this happened became more frequent. It didn't affect me too much during kindergarten or primary school but I became very, very self-conscious about it during high school.


Question: How does your stutter affect you, on a daily basis?

Sophie: I am a lot better than I previously was and I don't take it as hard if I do stutter these days. I have good days and bad days with my speech. Sometimes I can use my technique very well, but sometimes in more stressful days it can be difficult. But I never let my speech hold me back from saying what I want to say.


Question: How have you worked on your speech disorder, over the years?

Sophie: I first started seeing speech pathologists on and off throughout kinder/primary school, but unfortunately it never stuck outside the clinic and it got progressively worse. One of my last speech pathologists let me know about the Smooth Speech Intensive Program held at La Trobe University's Communication Clinic, and my mother and I agreed to go on the waiting list.

I undertook the program at about 14 years old and it was a complete game-changer- we were forced to speak very slowly and learn all the smooth speech techniques designed to make us less likely to stutter, and by the end of it I was completely fluent! But still, I was young and immature and I found it difficult to maintain. One year out of high school, I found myself having a lot of trouble carrying on what they had taught me and my parents recommended that I attend a Speak Easy meeting, a support group for those with a stutter.

My mother took me along and although I was very shy, I felt happy to be among other people like me. Despite being the only female attending the group, I persevered in attending every Tuesday. With the good support from my fellow members, I was able to build up my confidence and improve my fluency, all while making many friends along the way. I am now lucky enough to run the Box Hill group of Speak Easy, and support other new members like I once was.


Question: Why did you decide to get involved in the Genetics of Stuttering Study?

Sophie: I wanted to get involved with the Genetics of Stuttering Study because I believe there is a lot to still be discovered about stuttering and I like to support any research being done to look into stuttering, especially if there is a chance to developing better treatments as a result.


Question: Is there a family history of stuttering, in your family?

Sophie: I have been told that my maternal grandmother once had a stutter as a very young child, but grew out of it very early on as many kids do. The brother of my maternal grandfather was also said to have had a stutter.


Question: What do you hope to see achieved from the Genetics of Stuttering Study?

Sophie: I hope that the Genetics of Stuttering Study may allow us to see further into the causes of stuttering, and that it will lead to better treatments and perhaps even more!


Question: What's a typical day like, for you?

Sophie: I take the train in to work every day, and on the way I often speak to one of my speech buddies on the phone. They are always people I feel comfortable speaking to, and we can monitor our speech because we use the same technique. I get in to work and there is not a lot of speaking I need to do - just a bit of friendly chit-chat and occasionally speaking about the work we're doing - other than that, we just need to get on with our work.

Still, during this time I like to chat occasionally and keep trying to use my smooth speech technique as much as I can - I feel happier speaker when I am more fluent. At lunchtime, I always make an effort to chat with people in the lunchroom while having my food. I have taken to ordering food instead of bringing my own in because it encourages me to practice my speech more, as well as take a bit of exercise. Back in the office, I continue working throughout the day, again with the occasional chit-chat. I come back home on the train, and have a chat to my partner about how our days have gone, as well as plan our next trip away.

Question: What advice do you have for other women who have speech disorders?

Sophie: I have lots to say! I would encourage women who stutter to never stop speaking. We all have things worth saying and worth hearing, and we shouldn't let our speech hold us back. I was very quiet once before, and it was a very isolating time. We are not alone, and support is out there. Be good to yourself and never stop seeking happiness.


Interview by Brooke Hunter