Do you have a stutter? 3000+ volunteers wanted

Do you have a stutter? Do you know someone that does?

Australian researchers from the NHMRC Centre of Research Excellence in Speech and Language are seeking 3000 participants aged seven and above with a lived 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, affecting an estimated 240,000 Australians.¹

Australian children aged seven and above, together with adults nationwide who currently stutter, or have a history of stuttering, may volunteer for the study.

“We are urging healthcare professionals to encourage their patients who stutter, or those with a history of the disorder, to participate in the ‘Genetics of Stuttering Study’, said Professor Angela Morgan, Co-Chief Study Investigator, speech pathologist and NHMRC Practitioner Fellow, Murdoch Children’s Research Institute, Melbourne.

“Participation in this study will provide significant insights into the pathophysiology of stuttering. Studies have only identified a handful of genetic mutations associated with stuttering to date, so there are many genes yet to be uncovered.”²

Saliva samples collected will be utilised in a genome-wide association study (GWAS) to identify the genetic variants associated with stuttering, SNP genotyping. This GWAS methodology has been used extensively worldwide for many other genetic studies.³

Study logistics

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.

Study participation is strictly confidential. All patient information provided will be maintained in accordance with the Commonwealth Privacy Act 1988 and National Health and Medical Research Council (NHMRC) guidelines.

Study participation involves completion of a short, 10-minute online survey, after which volunteers will be asked to record a short sample of their speech. The online survey must be completed by a parent or guardian on behalf of study participants aged under 18 years. Those who complete the survey and meet the study’s eligibility criteria will be asked to donate a saliva sample, for DNA analysis. Researchers will send a saliva collection kit together with a pre-paid return envelope to select participants.

QIMR Berghofer Medical Research Institute will extract DNA from the saliva samples. Should the participant provide consent for their DNA to be used in future studies, the remaining DNA will be sent to the University of Melbourne for use in future, related genetic studies. Analysis will be led by the Walter and Eliza Hall Institute of Medical Research, in Melbourne.

Contributing to early diagnosis

“The aim of our study is to identify genes that are associated with developing a stutter,” said Prof Morgan. “Identification and detection of these genes may lead to earlier diagnosis and intervention, and into the future will help develop targeted therapies, and ultimately, prevention of the disorder.

“Studies have verified that early diagnosis for children who stutter is critical, as early intervention yields the best outcomes.⁶

“Australians who choose to volunteer for the Genetics of Stuttering Study will be contributing to a global effort to unravel the genetics of stuttering, and may eventually learn more about their own potential genetic make-up with regard to stuttering.

Those wishing to volunteer for the ‘Genetics of Stuttering Study’, or to learn more, can head to www.geneticsofstutteringstudy.org.au or email geneticsofspeech@mcri.edu.au. Recruitment closes 31 December 2019.

Stuttering statistics

• Stuttering is a disability that affects normal verbal fluency, and verbal communication — particularly the rhythm or flow of speech.⁴
• Globally, 1% of adults stutter,^1,5 and nearly 70% of people who stutter report a family history of the disorder.²
• 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.⁶
• For adults, stuttering can be associated with substantial psychosocial morbidity, including social anxiety and lowered quality of life.⁷ Stuttering can strongly and adversely impact a stutterer’s perspective of themselves and their social and work-related relationships.⁸
• Stuttering affects people from all backgrounds, intelligence levels, and personalities.⁷ Stuttering is neither a language disorder,⁹ nor a psychological disorder.¹⁰
• Stuttering typically emerges between two to four years of age, after children have already begun to speak. Approximately 4% of young children experience a phase during which they prolong words, or “get stuck” trying to talk.^1,5 Recent Australian research reveals 8.5% of three-year-olds experience stuttering.⁵
• Stuttering has been associated with differences in brain anatomy, functioning, and dopamine regulation thought to be due to genetic causes.⁶

References

1. Speech Pathology Australia. Stuttering Fact Sheet. Available for download at http://www.speechpathologyaustralia.org.au/spaweb/Document_Management/Public/Fact_Sheets.aspx#anchor_stut [last accessed Jan, 2018].

2. Onslow, M. (2017). Stuttering and its treatments, Eleven Lecture. Available at http://sydney.edu.au/health-sciences/asrc/downloads/index.shtml [last accessed Jan, 2018].

3. National Human Genome Research Institute, Genome wide association studies, Factsheet. Available at: https://www.genome.gov/20019523/genomewide-association-studies-fact-sheet/ [last accessed Feb, 2018].

4. Australian Speak Easy Association. Treatment (2017). http://www.speakeasy.org.au/treatment/ [last accessed Jan, 2018].

5. The Conversation. Explainer: What is stuttering? (2012) https://theconversation.com/explainer-what-is-stuttering-9560 [last accessed Jan, 2018].

6. Dworzynski, K., Remington, A., Rijsdijk, F., Howell, P., & Plomin, R. (2007). Genetic etiology in cases of recovered and persistent stuttering in an unselected, longitudinal sample of young twins. American Journal of Speech-Language Pathology, 16 (2), 169-178.

7. Perez, H. R., & Stoeckle, J. H. (2016). Stuttering: Clinical and research update. Canadian Family Physician, 62(6), 479-484.

8. Pregnancy, Birth & Baby. Stuttering in Children (2017). http://www.pregnancybirthbaby.org.au/stuttering-in-children [last accessed Jan, 2018].

9. Weis, R. (2013). Introduction to abnormal child and adolescent psychology. Sage Publications.

10. Guntupalli, V. K., Kalinowski, J., Nanjundeswaran, C., Saltuklaroglu, T., & Everhart, D. E. (2006). Psychophysiological responses of adults who do not stutter while listening to stuttering. International Journal of Psychophysiology, 62(1), 1-8.

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