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Centre of Research Excellence in Speech and Language
The Centre of Research Excellence in Speech and Language is an international collaboration of experts in the fields of speech pathology, paediatric neurology, neuroscience, genetics and bioinformatics whose core vision is to transform speech pathology practice by identifying, understanding and targeting the underlying causes of developmental speech and language disorders. The Centre of Research Excellence in Speech and Language is funded by the National Health and Medical Research Council for the next five years.
Why research causes of speech and language disorders?
Speech and language disorders are common.
One in five Australian children start school with a speech or language disorder. Some children will grow out of it, but others will go on to have persistent communication difficulties.
Speech and language disorders often run in families.
This suggests there may be genes that make it more likely a person will have a speech or language disorder.
Relatively little is known about the genetic causes of speech and language disorders.
We know that speech and language disorders arise out of a complex triad of genetic, neurological and environmental factors. Genetic factors are thought to play a significant role to speech and language, however only a small number of genes for childhood speech disorder have been identified to date.
Understanding causes of speech and language disorders will improve developments in treatment.
Currently many treatments for speech and language disorders focus on symptoms only without targeting the underlying cause of the problem. Learning more about the genetic and neurobiological basis of speech and language disorders will help us identify who may be at risk and allow us to develop more targeted treatments.
|To date, Angela and team have characterised speech and language in children with a number of genetic syndromes, single gene and copy number variant conditions, including but not exclusive to: FOXP2-related speech and language disorders, Kabuki syndrome, Floating Harbour Syndrome, 16p11.2 deletion, Koolen de Vries syndromes, GRIN2A-related speech disorder, 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.|
|Prof. Ingrid Scheffer is a Laureate Professor in Paediatric Neurology, University of Melbourne and is Senior Principal Research Fellow at the Florey Institute of Neuroscience. Ingrid 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), is a neurogeneticist with a well-established track record in applying genetic and functional approaches to elucidate novel pathways involved in human disease. Michael 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.|
|Prof. 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.|
|Prof. Alan Connelly is 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.|
|Prof. David Amor is 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.|
|Prof. 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 a number of RCTs for child language disorder.|
|Dr. Frederique Liegeois is 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.|
|Prof. Simon Fisher is 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.|
|Dr. Amanda Brignell is a speech pathologist and postdoctoral research fellow with particular expertise in language and social communication. Amanda recently completed her PhD on language growth and predictors in autism spectrum disorder. Her current research with the CRE Speech and Language focuses on describing the speech and language phenotypes of genetic conditions such as NRXN1 deletion.|
|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.|
|Olivia Van Reyk, is a speech pathologist and research co-ordinator on the CRE Speech and Language. Olivia brings expertise in speech and language phenotyping to the CRE with a recent shift of focus from Childhood Apraxia of Speech into stuttering.|
Dr. Samantha Turner is a speech pathologist and postdoctoral research fellow. Dr. Turner characterised the speech and language phenotype associated with known gene mutations (SCN1A-Dravet syndrome, GRIN2A-Epilepsy-Aphasia Spectrum syndromes, FOXP2) as well as a familial speech disorder of unknown cause as part of her PhD. She will continue clinical phenotyping work in the CRE.
|Matthew Coleman is a research assistant in the Molecular Genetics Laboratory at The University of Melbourne. His research aims to identify and validate the underlying genetic causes of speech disorders and epilepsy.|
|Tegan Howell is a speech pathologist and project officer on the CRE Genetics of Speech and Language team. She has clinical experience working with infants and children with a range of communication abilities, particularly within the deaf/hard of hearing population.|
Simone Debono is a speech pathologist and research assistant on the CRE Genetics of Speech and Language team. She has clinical experience working with young children and their families in community health, early intervention and education settings, particularly within culturally and linguistically diverse communities.
|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.|
|Jessica Boyce, is a speech pathologist and PhD candidate. Jessica is completing a PhD exploring the speech and language phenotype of children with cleft lip and palate and their unaffected relatives.|
|Ruth Braden, is a speech pathologist and PhD candidate with the CRE Speech and Language. Her research will focus on the aetiology of childhood speech sound disorder, in particular childhood apraxia of speech.|
|Lauren Pigdon is a Research Assistant and DPsych candidate. Lauren is currently completing a Doctorate in Clinical Neuropsychology at Monash University. Her doctoral research project, conducted at the Murdoch Children's Research Institute, uses MRI to investigate the structural and functional characteristics of developmental speech and language disorders.|
|Miya St John, is a speech pathologist and research assistant in the team. Miya recently completed her Masters thesis examining the speech and language phenotype of boys with Klinefelter syndrome. She will soon begin her PhD through the CRE Speech and Language, with a focus on genotype-phenotype association studies across a selection of genetic conditions.|
|Katherine Sanchez is a speech pathologist and PhD candidate at the Murdoch Children's Research Institute and University of Melbourne. She has clinical experience working with infants and children with a range of communication and feeding disorders. Her PhD research explores the speech, language and feeding abilities of children born very preterm.|
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.
The Centre of Research Excellence in Speech and Language is a collaboration between key researchers and clinicians from the following institutions:
- Murdoch Children's Research Institute
- 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
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.
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 have identified that, in many cases, severe speech disorder seems to simply arise in a child in a family, without any 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.
The CRE Speech and Language is 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
We'd love to hear from you!
If you are interested in participating in our studies or would like more information about our research, please complete the registration form and one of the researchers will get in contact with you.
Clinicians who are interested in collaborating on this work or would like more information are welcomed to get in touch via email email@example.com
Recent key publications by some of the Centre of Research Excellence in Speech and Language chief investigators include:
Turner, S.J., Brown, A., Arpone, M., Anderson, V., Morgan, A.T., & Scheffer, I.E. (2017). Dysarthria and broader motor speech deficits in Dravet syndrome. Neurology, 88(8), 743-749.
Fedorenko, E., Morgan, A., Murray, E., Cardinaux, A., Mei, C., Tager-Flusberg, H., Fisher, S.E., & Kanwisher, N. (2016). A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2. European Journal of Human Genetics, 24, 302-306.
Liégeois, F. J., Hildebrand, M. S., Bonthrone, A., Turner, S. J., Scheffer, I. E., Bahlo, M., Connelly, A., & Morgan, A. T. (2016). Early neuroimaging markers of FOXP2 intragenic deletion. Scientific Reports, 6, 35192.
Morgan, A.T., Mei, C., Da Costa, A., Fifer, J., Lederer, D., Benoit, V., McMillin, M.J., Buckingham, K.J., Bamshad, M.J., Pope, K., & White, S.M. (2015). Speech and language in a genotyped cohort of individuals with Kabuki syndrome. American Journal of Medical Genetics Part A, 167A, 1483–1492.
Turner, S. J., Mayes, A. K., Verhoeven, A., Mandelstam, S. A., Morgan, A. T., & Scheffer, I. E. (2015). GRIN2A: An aptly named gene for speech dysfunction. Neurology, 84(6), 586–593.
Liégeois, F., Morgan, A.T., Connelly, A., & Vargha-Khadem, F. (2011) Endophenotypes of FOXP2: Dysfunction within the human articulatory network. European Journal of Paediatric Neurology, 15(4), 283-288.