Centre of Research Excellence in Speech and Language
This project is completed.
Our vision was to transform speech pathology practice by identifying, understanding and targeting the underlying causes of developmental speech and language disorders
For a long time, there was scepticism that child speech disorders could be genetic.
Over the past five years, critical work by our Centre of Research Excellence in Speech and Language (#1116976, 2017-21) has changed the status quo in the field by expanding two causative genes to over 30 genes. This has provided invaluable information to clinicians and families – improving our understanding of speech and language abilities for a range of genetic conditions.
Researchers at Murdoch Children’s have characterised conditions associated with pathogenic findings in candidate genes that show susceptibility for childhood apraxia of speech, as well as other conditions.
CRE achievements
Some of the achievements of the Centre of Research Excellence 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.
The Centre of Research Excellence in Speech and Language 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.
Our team
Chief Investigators
Professor Angela Morgan
Professor Morgan and team have characterised speech and language in children with several genetic syndromes, single gene and copy number variant conditions, including but not exclusive to: FOXP2-related speech and language disorders, FOXP1-related disorder, SETBP1 haploinsufficiency disorder, Phelan McDermid syndrome, KAT6A syndrome, DYRK1A syndrome, Kabuki syndrome, Floating Harbour Syndrome, 16p11.2 deletion, Koolen de Vries syndromes, GRIN2A-related disorders, Dravet syndrome, Beckwith Weidemann Syndrome and Klinefelter Syndrome. Her group are also one of few teams worldwide delivering genetic diagnoses to children with severe speech and language disorders.
Professor Ingrid Scheffer
A Laureate Professor in Paediatric Neurology, University of Melbourne and is Senior Principal Research Fellow at the Florey Institute of Neuroscience. Professor Scheffer is a paediatric neurologist and epileptologist with a large clinical practice caring for children and adults with epilepsy. Her research group was the first to discover a gene for epilepsy and subsequently, many of the genes now known to be implicated.
Dr Michael Hildebrand (PhD 2006, University of Melbourne)
A neurogeneticist with a well-established track record in applying genetic and functional approaches to elucidate novel pathways involved in human disease. Dr Hildebrand is an NHMRC Career Development Fellow and Head of the Molecular Genetics Laboratory. He has expertise in gene discovery for epilepsy, speech disorders and hearing loss.
Professor Melanie Bahlo
Laboratory head in statistical genetics in the Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research. Her group will analyse genomic data generated in the CRE.
Professor Alan Connelly
A world leader in diffusion MRI innovation and leader of the advanced MRI Development Group. The methodological advances made at the Florey are being applied increasingly worldwide to further our understanding of the healthy brain and of how network connectivity is affected in disease. Such advances in technique will also have a major influence on human connectome investigations.
Professor David Amor
An internationally recognized consultant clinical geneticist and clinician scientist with a research focus on human genetic disorders. David is the inaugural Lorenzo and Pamela Chair of Developmental Medicine in the Department of Paediatrics, University of Melbourne.
Professor Sheena Reilly Pro Vice Chancellor (Health) Griffith University.
Sheena is a speech pathologist with particular interest in the epidemiology of speech and language disorders. Her research focuses on child language, specifically how children develop language, what can go wrong and how best to manage language problems. She has also conducted several RCTs for child language disorder.
Dr Frederique Liegeois
A cognitive neuroscientist in the Cognitive Neuroscience and Neuropsychiatry Section at the UCL Great Ormond Street Institute of Child Health, one of the world’s leading institutions in paediatric research. Frederique is internationally renowned for her work on the neural bases of inherited and acquired communication disorders.
Professor Simon Fisher
Director of the Max Planck Institute for Psycholinguistics and Professor of Language and Genetics at the Donders Institute for Brain, Cognition and Behaviour in Nijmegen, the Netherlands. Simon is an international leader in identifying gene pathways and mechanisms leading to speech and language disorders.
Staff
Dr Victoria Jackson is a bioinformatician and post-doctoral fellow. She applies new statistical methods to complex genetic problems. Victoria is excited to apply her skills to childhood speech and language disorders.
Dr Antony Kaspi is a bioinformatician and post-doctoral fellow. He uses novel bioinformatic methods to improve our understanding of the genetic processes involved in intractable childhood epilepsy using high throughput sequencing technologies.
Dr Ruth Braden is a speech pathologist and post-doctoral fellow. Her research primarily focuses on elucidating gene-brain-behaviour relationships, by refining the speech and language phenotypes of children with genetic and neural pathologies.
Dr Emma Baker is a post-doctoral fellow. Dr Baker is an autism specialist with extensive experience working with individuals with neurodevelopmental disorders that present with an autism phenotype, including Fragile X, Prader-Willi, Angelman and Chromosome 15 Duplication Syndromes.
Ms Olivia Van Reyk, is a speech pathologist and research co-ordinator on the CRE Speech and Language. She has worked across a range of projects and gained expertise in speech and language phenotyping. More recently, Olivia's focus has expanded to population-based work coordinating and collecting normative data in school and early learning settings for the development of a digital speech assessment tool and natural history studies.
Ms Lottie Morison is a speech pathologist and research co-ordinator on the CRE Speech and Language. Lottie has worked in clinical and research settings as a speech pathologist. Lottie's areas of interest include motor speech disorders, augmentative and alternative communication, and early language and literacy development. Lottie is also a PhD student at the University of Melbourne.
Ms Elana Forbes is a research co-ordinator and clinical trial coordinator with experience conducting research in neurodevelopment, family and child psychology, and neurodegeneration. She is also currently a PhD candidate at Monash University.
Ms Mariana Lauretta is a speech pathologist and clinical co-ordinator of the genetics of speech clinic. She will complete her Master of Genetic Counselling at The University of Melbourne in 2022. Mariana has worked across clinical and research speech pathology settings, and is currently the Clinic Coordinator of the Speech Apraxia and Genetics clinic, a gene discovery clinic at The Royal Children's Hospital and MCRI.
Ms Miya St John is a speech pathologist, PhD candidate, and research assistant. She has experience working as a speech pathologist both clinically and in research. Miya has helped to explore the speech and language phenotypes of children with rare genetic conditions such as NRXN1 deletions. She has also collaborated with others to explore the links between hearing loss and speech sound disorder.
Ms Sophie Fontaine is a research assistant with the Speech and Language group. Sophie is also a medical student at Monash University.
Ms Sarah Horton is a PhD candidate completing her PhD titled "Sub-phenotyping in a genome-wide association study of stuttering". She also works clinically as a Speech Pathologist and volunteers with SAY: Australia. Sarah has an interest in identifying sub-groups of stuttering to better inform future treatment trials.
Ms Loretta Gasparini (Lottie) is a PhD candidate in the Speech & Language group. Her PhD investigates early communication abilities as predictors of later language difficulties, utilising data from large cohort studies, including GenV. She is also a Research Assistant for GenV.
Associate Investigators
- Prof. Vicki Anderson, Neuropsychologist, Director of Clinical Sciences Research, Murdoch Children's Research Institute, Melbourne.
- Prof. John Hopper, Director of Twin Research Australia, Director (Research) of the Centre for Epidemiology and Biostatistics at the University of Melbourne, Melbourne.
- A/Prof. Nicky Kilpatrick, Paediatric Dentist, Plastic Surgery Group, Murdoch Children's Research Institute, Melbourne.
Core CRE collaborators
- Prof. Kirrie Ballard, Speech Pathologist, Discipline of Speech Pathology, Faculty of Health Sciences, University of Sydney, Sydney.
- Prof. David Coman, Paediatrician, Metabolic Physician and Clinical Geneticist, Wesley Hospital, Brisbane.
- Prof. Michael Fahey, Neurologist / Geneticist. Head of Paediatric Neurology, Monash Children's Hospital, Melbourne.
- Dr. Himanshu Goel, Hunter Genetics and University of Newcastle, Newcastle, Australia.
- Eva Harrold, Speech Pathologist, Melbourne.
- Dr. Alan Ma, Clinical Geneticist, Department of Clinical Genetics, Children’s Hospital at Westmead, Sydney.
- A/Prof. Tricia McCabe, Speech Pathologist, Head of Discipline, Speech Pathology, Faculty of Health Sciences, University of Sydney, Sydney.
- Dr. Elizabeth Murray, Speech Pathologist, Discipline of Speech Pathology, Faculty of Health Sciences, University of Sydney, Sydney.
- Bronwyn Parry Fielder, Speech Pathologist, Melbourne.
- Dr. Georgie Paxton, Paediatrician, Royal Children's Hospital, Melbourne.
- Dr. Kerryn Saunders, Paediatrician, Melbourne.
- Dr. Janine Smith, Clinical Geneticist, Department of Clinical Genetics, Children’s Hospital at Westmead, Sydney.
- Dr. Richard Webster, Neurologist, Department of Neurology, Children’s Hospital at Westmead, Sydney.
Our projects
Genetics of Speech Disorders Study
Studying how genes may be involved in speech disorders in adults and children
The Centre of Research Excellence in Speech and Language is an international collaboration of experts in the fields of speech pathology, neurology, neuroscience and genetics. Our CRE is focused on understanding the mechanisms underlying childhood speech disorders to develop novel targeted therapies.
Genetics of Speech
Researchers at The Murdoch Children’s Research Institute are studying the genetic causes of speech disorders. They are looking for children and adults who have speech sound disorder, such as childhood apraxia of speech or severe phonological disorder.
Our team has identified that, in many cases, severe speech disorder seems to simply arise in a child in a family, with no prior history of speech difficulties from the parents. In other cases, there is a strong history of speech difficulties from one or both sides of the family.
At present, we have found we can identify a single gene causative for childhood apraxia of speech in around 1 in 3 children. Learning more about the genetic basis of speech disorders will help us more easily identify which children may be at risk of speech disorder, and will allow us to develop more targeted treatments.
Get involved
We are currently working with the following groups in particular (but we are interested in all individuals with striking speech and language conditions):
- Individuals and families with a strong history of childhood apraxia of speech (CAS)
- Individuals and families with a strong history of stuttering
- Identical and non-identical twins with CAS, stuttering or severe speech/language disorder
If you are interested in participating in our studies, would like more information about our research or are a health professional interested in collaborating on this work, please contact us.
- Genetics of Speech - email us
Research projects
Pharmacological treatment of childhood apraxia of speech
This research investigates whether the drug methylphenidate (MPH) can improve speech and language outcomes in children with apraxia of speech (CAS). MPH is currently approved as a treatment for ADHD in children. This is the first randomised clinical trial to evaluate MPH as a potential treatment for CAS. Led by the Speech & Language Group, this research brings together MCRI, RCH and University of Melbourne speech pathology, paediatrics, neurology and neuropsychology clinicians and researchers. This trial is approved by The Royal Children’s Hospital ethics committee (HREC 77169) and funded by the NHMRC Centre of Research Excellence grant.
If you would like to find out more about the study, please contact the study team:
- Speech trial - email us at show email address
Genetics of Stuttering Study
This study aims to pinpoint the genes that predispose individuals to stuttering. This could revolutionise future research into the causes, and biology of stuttering. Researchers from the NHMRC Centre of Research Excellence in Speech and Language are calling for 3,000 adults and children with experience of stuttering (past or present) to volunteer for the Australian and New Zealand arms of world’s largest ever ‘Genetics of Stuttering Study.
Genetics of Stuttering Study - email us at show email address
Funding
Collaborations
- Murdoch Children's Research Institute
- The University of Melbourne
- Florey Institute of Neuroscience and Mental Health
- The Walter and Eliza Hall Institute of Medical Research
- Menzies Health Institute Queensland
- Max Planck Institute of Psycholinguistics
- University College London Great Ormond Street Institute of Child Health
- The Children’s Hospital at Westmead
- Hunter Genetics
Featured publications
- 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. https://academic.oup.com/brain/advance-article-abstract/doi/10.1093/brain/awab364/6433677?redirectedFrom=fulltext
- 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/