A groundbreaking global study involving one million participants has uncovered 48 genes linked to stuttering, revealing connections between the speech disorder and neurodiversity, emotional regulation, and musical rhythm processing in the brain.
Western Australian families contributed crucial multi-generational DNA samples to help scientists map the hereditary patterns of stuttering, with some families providing samples spanning four generations to unlock the genetic puzzle.
The scientists have identified specific DNA markers that can predict which family members will develop stuttering, offering hope for early intervention for a speech disorder affecting over 400 million people worldwide through the largest genetic study ever conducted on the condition.
The research, published in Nature Genetics, confirmed the hereditary nature of stuttering after collecting saliva samples from participants across the globe, the journal reported. Among the contributors were 1,380 samples from multi-generational Western Australian families through the Curtin Stuttering Treatment Clinic, working alongside Wayne State University in Detroit.
Scientists uncovered 48 genes associated with stuttering and identified 57 related genomic hotspots, according to the study reported in the journal. The research revealed genetic connections between stuttering and neurodiversity, emotional regulation, and musical rhythm, suggesting a neurological foundation for the speech disorder.
Associate Professor Janet Beilby, founder of the Curtin Stuttering Treatment Clinic in the Curtin School of Allied Health, described the findings as revolutionary for millions of families dealing with this common speech condition. Her research, conducted with co-authors Dr Emily Lowther and Ms Kathy Viljoen from the Curtin School of Allied Health, has shown that stuttering affects families and impacts every aspect of a child's life into adulthood.
"This finding is life-changing for all those children who stutter," Beilby stated. "Stuttering is more than just a stutter – most children with a speech or language disorder (most notably a stutter) will be bullied at school and adults who stutter may face challenges in the workplace that can negatively affect their mental health and social wellbeing."
The genetic markers will enable clinicians to predict stuttering development through DNA analysis. Beilby explained that early identification could facilitate intervention before the potentially lifelong consequences many people experience with stuttering occur.
"Based on what we've found in this research, we will be able to take a DNA sample and predict if the individual is likely to stutter or not. If we can identify who in a particular family will develop a stutter, we can intervene earlier to prevent the potentially life-long consequences of stuttering that many people experience."
