Who should have genetic testing?
Parents sometimes ask questions such as
“Why does my child have a motor speech disorder?” or
“Can we understand more about my child’s health?”
Whilst sometimes we don’t know the answer to these questions, or there could be many contributing factors or additional aspects to consider, did you know that up to one third of children with motor speech disorders have an underlying genetic explanation?
There are some clues that you can look out for which might warrant further investigation via genetic testing for children with CAS or severe motor speech disorder.
Identification
One in 1000 children have a motor speech disorder such as childhood apraxia of speech (CAS) or dysarthria. These conditions are implicated when children have speech features across three categories:
- Inconsistent errors
- Lengthened and disrupted coarticulatory transitions
- Inappropriate prosody
Not sure if your client meets criteria for a motor speech disorder diagnosis? Refer for a second opinion speech assessment here (located in Australia only).
Classification
Based on research study findings, a brief checklist has been developed to help provide some information about when genetic testing may be an option for children with motor speech disorder.
With more data, we may be able to understand further traits that are indicative of a genetic explanation.
Clinical features checklist
These clinical features may be indicative of a genetic explanation for children with motor speech disorder:
Delayed walking
Mild-severe cognitive impairment
If no cognitive assessment is completed, mild-severe receptive language impairment.
Distinctive facial differences (dysmorphism)
Child does not look similar to other family members, unique facial features such as wide-set eyes or small jaw.
Fine and/or gross motor delay
How to interpret your answers
0–1 YES
May have lower likelihood of genetic explanation.
2–4 YES
May have higher likelihood of genetic explanation, and genetic testing may be an option for your client’s family to consider.
- Van Niel, H., Lauretta, M., Baker, E., O’Donnell, L., Boulton, C., Brenchley, C., Coman, D., Michellis, E., Goel, H., Thompson, G., Webster, R., Paxton, G., Stark, Z., Scheffer, I.E., Hildebrand, M.S., Amor, D.J., & Morgan, A.T. (2026). Childhood motor speech disorders: Who to prioritise for genetic testing. European Journal of Human Genetics, 34(5), 639-648. https://doi.org/10.1038/s41431-025-01993-9
Additional resources
Genetic testing in childhood apraxia of speech
Summary of types of genetic causes of childhood apraxia of speech, including information for families.
Childhood motor speech disorders: Who to prioritise for genetic testing
Research summary outlining a study undertaking genomic testing in children with motor speech disorder, and possible predictors of a genetic diagnosis.
About genomic testing: A resource for families
Web resource aimed at families which outlines what genomic testing is, and questions that families may have about what is involved and possible results.
Parental experiences of genetic testing in childhood apraxia of speech
Research summary outlining a study which explored how parents perceive and feel about genetic testing for their children with motor speech disorder.
The importance of speech genes
Podcast for SPA members discussing research in the field of speech genetics, particularly in childhood motor speech disorder, and implications of this research for speech pathologists.
NOTE: Please search “genes” on this link, to be taken to S5E01 of the Speak Up Podcast.
Why is genetics relevant?
Webinar on genomics in neurodevelopmental disorders, including a summary of possible causes, why this might be important, and the future of genetic testing.
Barriers and enablers for genetics in speech pathology clinical practice
Webinar on the barriers and enablers speech pathologists may experience with genetics in clinical practice, including possible ways to support speech pathologists with this into the future.