Registration for a live webinar on 'Neuroleptic malignant syndrome' is now open.
See webinar detailsWe noted you are experiencing viewing problems
-
Check with your IT department that JWPlatform, JWPlayer and Amazon AWS & CloudFront are not being blocked by your network. The relevant domains are *.jwplatform.com, *.jwpsrv.com, *.jwpcdn.com, jwpltx.com, jwpsrv.a.ssl.fastly.net, *.amazonaws.com and *.cloudfront.net. The relevant ports are 80 and 443.
-
Check the following talk links to see which ones work correctly:
Auto Mode
HTTP Progressive Download Send us your results from the above test links at access@hstalks.com and we will contact you with further advice on troubleshooting your viewing problems. -
No luck yet? More tips for troubleshooting viewing issues
-
Contact HST Support access@hstalks.com
-
Please review our troubleshooting guide for tips and advice on resolving your viewing problems.
-
For additional help, please don't hesitate to contact HST support access@hstalks.com
We hope you have enjoyed this limited-length demo
This is a limited length demo talk; you may
login or
review methods of
obtaining more access.
Printable Handouts
Navigable Slide Index
- Introduction
- Stuttering - natural history
- Stuttering – the medical researcher’s view
- Causes – the main hypotheses (1)
- Evidence for genetic factors in stuttering
- Twin studies
- Adoption studies
- Genetic factors play a major role in stuttering
- The search for genes that cause stuttering
- High confidence stuttering linkage locations
- Pakistani stuttering families PKST 072
- Linkage to stuttering on chromosome 12
- Contributions to stuttering
- GNPTAB, GNPTG, NAGPA
- Medical genetics
- Finding more genes
- Cameroon
- Large stuttering family from Cameroon
- Many cases due to multiple genes in this family
- The gene on chromosome 15
- Adaptor proteins
- Emerging theme in persistent stuttering genes
- What fraction of stuttering do these genes cause?
- What populations do they cause stuttering in?
- Implications today
- What do these mutations cause?
- Working hypothesis
- Why study mice?
- The mouse as a model for human communication
- Pup isolation calls
- Our collaboration
- Mice pups vocalize in the ultrasonic range (P8)
- Pause durations in mice vocalizations
- Vocalization in mice carrying a stuttering mutation
- Increased pause durations in Gnptab Glu1179Lys mice
- Less diversity of temporal sequence of syllables
- Additional stuttering mutations
- Neuropathology
- Immunohistochemistry
- Astrocyte staining is reduced in “stuttering” mice
- Brain cell type-specific knock-out of Gnptab
- Mouse brain imaging
- Conclusions (1)
- Conclusions (2)
- Conclusions (3)
- Causes – the main hypotheses (2)
- Acknowledgments
Topics Covered
- The genetics of stuttering
- Genetics
- Neuroscience
- Speech and language pathology
- Twin and adoption studies
- Medical genetics
- Mice as a model for stuttering
Talk Citation
Drayna, D. (2021, November 28). The genetics of stuttering [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved October 14, 2024, from https://doi.org/10.69645/TPIL5786.Export Citation (RIS)
Publication History
Financial Disclosures
- Dr. Drayna serves as a member of the Board of Directors of the Stuttering Foundation (although this position is not remunerated).
Other Talks in the Series: Speech Dysfluency
Transcript
Please wait while the transcript is being prepared...
0:00
Welcome to our talk today, which is on a subject that's very near and dear to my heart,
the genetics of stuttering, a clinically difficult but scientifically fascinating disorder.
My name is Dennis Drayna, I'm a Senior Investigator and currently Scientist Emeritus
at the National Institute on Deafness and Other Communication Disorders,
which is part of the National Institutes of Health, in the United States.
0:30
I'd like to start with talking about what stuttering is, the natural history of the disorder.
Stuttering is a disorder of the flow of speech, characterized by repetitions or prolongations
of syllables or words, and by silent interruptions in speech known as blocks.
The disorder typically arises in childhood, about the time children are learning
how to talk, and it's common.
The incidence rate has been estimated that as many as 5 per cent of children
in the world stutter at some point, as they're learning how to speak,
or in the early preschool years.
Fortunately, something like 75 to 80 per cent of these cases resolve,
either spontaneously or with the help of speech therapy, but not all do
- and I think I'll speak for myself here, but I think some of my clinical colleagues
in speech and language pathology would agree with me -
that the therapy for this difficult disorder is less than satisfactory.
I think about a third of the subjects who undergo speech therapy
for stuttering have a clear lasting success;
about a third have good temporary success - they'll develop good speech fluency,
but after a while, they'll begin to regress back to some stuttering;
and there's maybe a third of people who are just extremely treatment-resistant,
for reasons that we don't really understand.