Genetics in speech pathology
As a speech pathologist, you may work with individuals and families who either have a diagnosed genetic condition, or may be suspected of having a genetic condition.
As genetic testing becomes more integrated into routine care due to increased access and availability, it may be more common that you come across clients who have had genetic testing, or are interested in pursuing this.
What is the Think Genetic! resource
This resource was developed to support speech pathologists with considering genetics in your day-to-day clinical practice. It is important to keep in mind that your role is not to provide in-depth information about the genetic testing process, a genetic condition, or testing outcome – but to support families and identify other avenues where they can seek help.
The Think Genetic! resource was co-designed with feedback from speech pathologists, as part of the Translational Centre for Speech Disorders.
Why is genetics relevant for speech pathologists?
- A more collaborative, integrated approach between speech pathologists and genetics teams may lead to better healthcare experiences for individuals and families.1,2 For example, families who chose to undergo genetic testing for their child’s motor speech disorder described the value of genetic testing in having a label for and understanding the cause of their child’s speech disorder, and understanding more about their child from a medical or holistic perspective.3
- Speech and language delays may be the first concern parents identify in their children,4 meaning that speech pathologists may be the first healthcare professionals that families contact.
- For some genetic conditions, early identification and referral for genetics support may allow monitoring of other co-occurring medical concerns, such as heart or kidney problems associated with certain genetic conditions.4
- Elliott, J. M., Freeman, L., Walton, D. M., Bray, P., Osmotherly, P., & Cornwall, J. (2019). The development of clinical genomics and genetics within healthcare: How should the allied health professions respond? Journal of Allied Health, 48(4), e101–e105.
- Morgan, A. (2013). Speech-language pathology insights into genetics and neuroscience: Beyond surface behaviour. International Journal of Speech-Language Pathology, 15(3), 245–254. https://doi.org/10.3109/17549507.2013.777786
- Atkinson, C., Lee, Y.Q., Lauretta, M.L., Jarmolowicz, A., Amor, D.J., & Morgan, A.T. (2025). Parental attitudes and experiences in pursuing genetic testing for their child’s motor speech disorder. European Journal of Human Genetics, 33(7), 930-936. https://doi.org/10.1038/s41431-024-01755-z
- Solot, C. B., Sell, D., Mayne, A., Baylis, A. L., Persson, C., Jackson, O., & McDonald-McGinn, D. M. (2019). Speech-language disorders in 22q11.2 deletion syndrome: Best practices for diagnosis and management. American Journal of Speech-Language Pathology, 28(3), 984–999. https://doi.org/10.1044/2019_AJSLP-16-0147
Do speech and language disorders have a genetic cause?
Recent research has revealed that up to one in three children with motor speech disorders (e.g. childhood apraxia of speech, dysarthria), have a genetic explanation for their speech disorder.5
Whilst the genetic testing aspects of the Think Genetic! resource are largely focused on motor speech disorder, there is an emerging understanding of the genetic basis of other speech and language disorders as more research is being done.
- Morgan, A.T., Amor, D.J., St John, M.D., Scheffer, I.E., & Hildebrand, M.S. (2024). Genetic architecture of childhood speech disorder: A review. Molecular Psychiatry, 29(5), 1281-1292. https://doi.org/10.1038/s41380-024-02409-8
You may wish to find out more information in these research papers:
Genetics of stuttering overview
Knowns and unknowns about the neurobiology of stuttering
Research paper about the neurobiology of stuttering and potential genetic links to stuttering.
Large-scale genome-wide analyses of stuttering
Research paper about exploring the genetic risk/contribution to stuttering through a large genetics population study.
Identified genetic explanations for stuttering
De novo protein-coding gene variants in developmental stuttering
Research paper about genetic explanations of stuttering identified through genetic testing. This study identified six genes that are potentially linked to stuttering.
Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40
Research paper about a gene called PPID, which was shown to be linked to stuttering within a large family.
Genetics of developmental language disorder (DLD) overview
The genetic and molecular basis of developmental language disorder: A review
Research paper providing an overview of what is known about the genetics of developmental language disorder (DLD).
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment
Research paper about genetic explanations of specific language impairment (SLI) identified through genetic testing.
Genome sequencing reveals high diagnostic yield in children with severe sporadic developmental language disorder
Research paper about genetic explanations of DLD identified through genetic testing. This paper identified that 36% of individuals tested had a genetic explanation for their severe DLD.