Genetics of Speech Disorders
Researchers from the NHMRC Centre of Research Excellence - Translational Centre for Speech Disorders are investigating the genetic causes of severe speech disorders such as childhood apraxia of speech (CAS), dysarthria and severe phonological disorder. Although genetic factors are thought to play a significant role in speech and language disorders, little is understood on the genetic bases of these conditions. 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.
Researchers from the NHMRC Centre of Research Excellence - Translational Centre for Speech Disorders are currently investigating factors that influence mental health outcomes in individuals and their families with NRXN1 deletion. This work is performed in collaboration with Thomas Bourgeron, Louise Gallagher and other Chief Investigators on the EU-Horizon grant on ‘Risk and Resilience in Mental Health Conditions’.
Genetically, NRXN1 deletion is known to play a significant role in neurodevelopment and disruptions of this gene can lead to conditions such as autism spectrum disorder, attention deficit/hyperactivity disorder, intellectual disability, language difficulties and subtle movement problems. Some individuals with NRXN1 deletion are at a higher risk for adverse mental health outcomes. Currently, little is understood regarding which factors contribute to positive versus more challenging mental health outcomes in individuals with NRXN1 deletion. Learning more about the mental health in individuals with NRXN1 deletion will help us identify people who may be at increased vulnerability for mental health challenges and allow us to develop more targeted treatments.
If you are interested or know someone who may be interested, please do not hesitate to contact us at NRXN1@mcri.edu.au or complete the following link https://redcap.link/RADIANT. For more information, please see our flyer.
Stuttering sub-group study
Researchers from the NHMRC Centre of Research Excellence – Translational Centre for Speech Disorders are investigating subgroups of people who stutter (past or present), based on family history, speech characteristics, personal experience of stuttering, and other health and medical conditions. Identifying subgroups of people who stutter with similar features will help us to better understand differences in stuttering such as why some people resolve naturally and some don’t, or why some people respond to speech pathology treatments and others don’t.
Participation in the study is free and easy – participants complete some online surveys (around 45 minutes) and an online Zoom session with a speech pathologist from our team (around 45 minutes). No formal diagnosis of stuttering is needed.
If you are interested or know someone who may be interested, please do not hesitate to contact us at email@example.com or express your interest using the following link. For more information, please see our flyer.
Studies in specific genetic conditions
Researchers from the NHMRC Centre of Research Excellence - Translational Centre for Speech Disorders are currently investigating speech and language presentations in several genetic conditions. This knowledge will help us learn more about diagnosis of these conditions, prognosis for speech and language outcomes and assist in tailoring therapies and supports for individuals and their families. Research is currently being conducted in the following genetic conditions:
- SETBP1 haploinsufficiency disorder
- FOXP1 syndrome
- KAT6B-related conditions
- KIF1A associated neurological disorder (KAND)
- Koolen-de Vries syndrome
- FOXP2-related disorder
- Schinzel-Giedion syndrome (SETBP1 gain-of-function)
- FOXP2+ related disorder (7q31.1 deletions)
- Batten disease (CLN2 and CLN3)
- CLCN4-related disorder
- GLUT-1 deficiency syndrome
If you are interested in learning more about these studies, please email us at firstname.lastname@example.org