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Parental attitudes and experiences in pursuing genetic testing for their child’s motor speech disorder

European Journal of Human Genetics volume 33, pages 930–936 (2025)Cite this article

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Abstract

Rare and typically severe motor speech disorders such as childhood apraxia of speech (CAS) and dysarthria affect about 1 in 1000 children. The genetic basis of these speech disorders is well-documented, with approximately 30% of children who undergo genomic testing receiving an explanatory genetic diagnosis. As more children with speech disorders are offered genetic testing, understanding parental views and experiences around genetic testing for their child is critical in providing effective pre- and post-test genetic counselling. This research explored parental attitudes, experiences, and perceived implications of pursuing genetic testing for their child with motor speech disorder. Semi-structured interviews were conducted with 20 parents of children with CAS or dysarthria who had undergone exome sequencing. Eight parents had received a genetic diagnosis for their child and 12 received uninformative genetic test results. Interviews were transcribed verbatim, co-coded, and analysed using reflexive thematic analysis. Parents were highly motivated to pursue genetic testing for their child’s speech disorder due to the perceived personal, clinical, social, and financial utility in obtaining a genetic diagnosis. Regardless of testing outcome, parents experienced complex emotional responses in receiving their child’s genetic test results. Parents whose child received a genetic diagnosis reported improved access to funding and clinical care; however, they also hoped for ongoing informational, clinical, and peer support in navigating the uncertainty surrounding their child’s rare diagnosis. Conversely, parents who received uninformative genetic test results reported finding meaning in this test outcome, and used emotional-focused and problem-focused strategies to cope with their child’s continued diagnostic odyssey.

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Data availability

Data analysed in the present study can be found within the published article, and in Supplementary File 2. Further data sets associated with this study are available upon request to the corresponding author.

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Acknowledgements

The authors would like to thank all the parents who generously gave their time and insights to participate in this research study.

Funding

This research was supported by National Health and Medical Research Council (NHMRC) Centre of Research Excellence in Speech and Language Neurobiology Grant 1116976 and NHMRC Project Grant APP1127144, awarded to Angela T. Morgan. NHMRC Practitioner Fellowship Grant 1105008 and Investigator Grant 1195955 were awarded to Angela T. Morgan. This study was completed in partial fulfilment of the requirements for the Master of Genetic Counselling programme, the University of Melbourne, Victoria, Australia. This work was also supported by the Victorian Government’s Operational Infrastructure Support Programme.

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Author notes

  1. These authors contributed equally: Christy Atkinson, Yong Quan Lee.

Authors and Affiliations

  1. Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia

    Christy Atkinson, Yong Quan Lee & David J. Amor

  2. Speech & Language, Murdoch Children’s Research Institute, Melbourne, VIC, Australia

    Christy Atkinson, Yong Quan Lee, Mariana L. Lauretta, Anna Jarmolowicz & Angela T. Morgan

  3. Speech Genomics Clinic, Royal Children’s Hospital, Melbourne, VIC, Australia

    Mariana L. Lauretta, David J. Amor & Angela T. Morgan

  4. Neurodisability & Rehabilitation, Murdoch Children’s Research Institute, Melbourne, VIC, Australia

    David J. Amor

  5. Department of Speech Pathology & Audiology, University of Melbourne, Melbourne, VIC, Australia

    Angela T. Morgan

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Contributions

ATM, DA, and AJ conceived, designed, and supervised the study. CA and YQL performed data acquisition and analysis, with supervision from AJ. CA, YQL, and ML drafted the manuscript. All authors contributed to the review of the final manuscript.

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Correspondence to Angela T. Morgan.

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The authors declare no competing interests.

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This study was approved by the Human Research Ethics Committee of the Royal Children’s Hospital, Melbourne, Australia (reference number: 37353).

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Atkinson, C., Lee, Y.Q., Lauretta, M.L. et al. Parental attitudes and experiences in pursuing genetic testing for their child’s motor speech disorder. Eur J Hum Genet 33, 930–936 (2025). https://doi.org/10.1038/s41431-024-01755-z

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