“Life-Changing” Genetic Link Identified for Stuttering

A study published in Nature Genetics has identified 48 genes and 57 genomic "hotspots" associated with stuttering, confirming its hereditary nature.

The research analyzed DNA samples from one million participants worldwide, including 1,380 samples collected from multi-generational Western Australian families through the Curtin Stuttering Treatment Clinic in collaboration with Wayne State University.

The study also identified genetic correlations between stuttering and traits such as neurodiversity, emotional regulation and musical rhythm. These findings suggest that stuttering may have a neurological component in addition to its genetic basis.

Insights into developmental stuttering

Developmental stuttering is the most common speech fluency disorder globally, affecting more than 400 million people. It typically begins between ages two and four and is marked by speech interruptions including repetitions, prolongations and pauses. Prevalence ranges from 5% to 8% worldwide and is estimated at up to 11% in Australia.

The findings support the view that stuttering is not solely a speech condition but one influenced by complex neurological and genetic factors. Understanding these influences may help researchers refine approaches to early detection and management.

“Early intervention makes all the difference when you’re dealing with stuttering and I have seen that with my own children,” said Simone Hewitt, who took part in the study.

Hewitt is the mother of five children, three of which who stutter, including her 10-year-old, Harriet. Harriet is the fourth-generation of her family to stutter, and she also took part in the global study – with every generation up to her great-grandfather providing saliva samples to help map the genetic link.

“Harriet is a bright and bubbly 10-year-old now but when she first started stuttering, she would just go quiet," Simone recalled.

“She has worked so hard with the amazing people at the Curtin Stuttering Treatment Clinic to find her beautiful voice that now if she stutters, it won’t stop her. This research finding will be a game-changer for my own grandchildren who won’t have to wait until the issue presents to get the support they need. I can’t explain how much of a difference this would make to families like my own.”

Potential for earlier identification

By mapping genetic markers linked to stuttering, clinicians may be able to identify children at risk before symptoms develop. Early recognition could enable targeted support for affected families and help mitigate long-term impacts on social and psychological wellbeing.

“This finding is life-changing for all those children who stutter. 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,” said associate professor Janet Beilby, founder of the Curtin Stuttering Treatment Clinic in the Curtin School of Allied Health.

“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.”

Reference: Polikowsky HG, Scartozzi AC, Shaw DM, et al. Large-scale genome-wide analyses of stuttering. Nat Genet. 2025. doi: 10.1038/s41588-025-02267-2

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