CRE in Speech and Language (CRE-SL) — 2014–2019 (archived)

Our achievements

Some of the achievements of the CRE in Speech and Language include:

• Establishing a world-first speech genomics clinic with national referral.
• Identifying that as many as one in three children with speech apraxia may receive a genetic diagnosis for their condition.
• Conducting several studies helping clinicians and families understand a variety of conditions.

This CRE has influenced thinking and practice in the field, cementing the key role that genetics plays in speech disorders. This is particularly evident with the translation of our work into National Institutes of Health (NIH), UNIQUE UK and World Health Organization (WHO) clinical guidelines to better understand the diagnosis, prognosis and therapies needed for children with severe speech disorder.

Key projects

• Genetic studies: Investigated genes associated with severe speech disorders such as apraxia of speech and dysarthria.
• Phenotyping in rare genetic conditions: Characterised speech and language profiles in conditions like Koolen de Vries Syndrome, FOXP1/FOXP2, SETBP1, DDX3X, CDK13, BRPF1, and DYRK1A.
• Digital assessment tools: Developed novel tools for diagnosing speech disorders in clinical and research settings.
• Population studies: Explored speech and language development in the general population to identify early predictors and intervention points.

Thompson-Lake, D. G., Scerri, T. S., Block, S., Turner, S. J., Reilly, S., Kefalianos, E., Bonthrone, A. F., Helbig, I., Bahlo, M., Scheffer, I. E., Hildebrand, M. S., Liegeois, F. J. & Morgan, A. T. (2022). Atypical development of Broca’s area in a large family with inherited stuttering. Brain.

Hildebrand, M. S., Jackson, V. E., Scerri, T. S., Van Reyk, O., Coleman, M., Braden, R. O., Turner, S., Rigbye, K., Boys, A., Barton, S., Webster, R., Fahey, M., Saunders, K., Parry-Fielder, B., Paxton, G., Hayman, M., Coman, D., Goel, H., Baxter, A., Ma, A., David, N., Reilly, S., Detaltycki, M., Liegeois, F. J., Connelly, A., Gecz, J., Fisher, S. E., Amor, D, D. J., Scheffer, I. E., Bahlo, M., & Morgan, A. T. (2020). Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation. Neurology, 94(20), e2148-e2167. https://pubmed.ncbi.nlm.nih.gov/32345733/

Liégeois, F. J., Turner, S. J., Mayes, A., Bonthrone, A. F., Boys, A., Smith, L., ... & Morgan, A. T. (2019). Dorsal language stream anomalies in an inherited speech disorder. Brain, 142(4), 966-977. https://pubmed.ncbi.nlm.nih.gov/30796815/

Johnson, J. L., Stoica, L., Liu, Y., Zhu, P. J., Bhattacharya, A., Buffington, S. A., Huq, R., Eissa, N. T., Larsson, O., Porse, B. T., Domingo, E., Nawaz, U., Carroll, R., Jolly, L., Scerri, T. S., Kim, H., Brignell, A., Coleman, M., Braden, R., Kini, U., Jackson, V., Baxter, A., Bahlo, M., Scheffer, I. E., Amor, D. J., Hildebrand, M. S., Bonnen, P. E., Beeton, C., Gecz, J., Morgan, A. T. & Costa-Mattioli, M. (2019). Inhibition of Upf2-dependent nonsense-mediated decay leads to behavioral and neurophysiological abnormalities by activating the immune response. Neuron, 104(4), 665-679. https://pubmed.ncbi.nlm.nih.gov/31585809/

Eising, E., Carrion-Castillo, A., Vino, A., Strand, E. A., Jakielski, K. J., Scerri, T. S., Hildebrand, M. S., Webster, R., Ma, A., Mazoyer, B., Francks, C., Bahlo, M., Scheffer, I. E., Morgan A. T., Shriberg, L. D. & Fisher, S. E. (2019). A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development. Molecular psychiatry, 24(7), 1065-1078. https://pubmed.ncbi.nlm.nih.gov/29463886/

• Professor Angela Morgan – Lead Investigator, Speech Pathologist and Neuroscientist
• Dr Adam Vogel – Neurologist and speech scientist
• Dr Mark Corbett – Geneticist
• Dr Caitlin Curtis – Molecular biologist
• Dr Sue White – Clinical geneticist
• Dr Emma Baker – Speech pathologist
• Dr David Amor – Clinical geneticist
• Dr Miriam D’Souza – Research fellow