#9 Génétique du bégaiement
Dans cet épisode, Judith, orthophoniste, et Geneviève, adulte qui bégaie et candidate à la maîtrise en orthophonie, reçoivent Jean-François Leblanc, président de l’Association bégaiement communication, conseiller à l’information scientifique et adulte qui bégaie. Jean-François vulgarise avec brio pour nous les avancées scientifiques en matière de génétique du bégaiement : on parle de prédisposition, de polygénisme , d’environnement, et même de souris qui bégaient!
Bibliographie :
StutterTalk : The Genetics of Stuttering with Dr. Dennis Drayna from the NIH https://stuttertalk.com/the-genetics-of-stuttering-with-dr-dennis-drayna-from-the-nih-ep-684/
National Stuttering Association : www.westutter.org
Articles scientifiques cités :
Kang C, Riazuddin S, Mundorff J, Krasnewich D, Friedman P, Mullikin JC, Drayna D. (2010). Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering. N Engl J Med 362 (8): 677–685 (https://doi.org/10.1056/NEJMoa0902630).
Barnes TD, Wozniak DF, Gutierrez J, Han T-U, Drayna D, Holy TE. (2016). A mutation associated with stuttering alters mouse pup ultrasonic vocalizations. Curr Biol 26 (08): 1009–1018 (https://doi.org/10.1016/j.cub.2016.02.068).
Han T-U, Root J, Reyes LD, Huchinson EB, Hoffmann J du, Lee W-S, Barnes TD, Drayna D. (2019). Human GNPTAB stuttering mutations engineered into mice cause vocalization deficits and astrocyte pathology in the corpus callosum. Proc Natl Acad Sci USA 116 (35): 17515–17524 (https://doi.org/10.1073/pnas.1901480116).
Kraft SJ, DeThorne LS. (2014). The Brave New World of Epigenetics: Embracing Complexity in the Study of Speech and Language Disorders. Curr Dev Disord Rep 1 (3): 207–214 (https://doi.org/10.1007/s40474-014-0024-4).
Bibliographie :
StutterTalk : The Genetics of Stuttering with Dr. Dennis Drayna from the NIH https://stuttertalk.com/the-genetics-of-stuttering-with-dr-dennis-drayna-from-the-nih-ep-684/
National Stuttering Association : www.westutter.org
Articles scientifiques cités :
Kang C, Riazuddin S, Mundorff J, Krasnewich D, Friedman P, Mullikin JC, Drayna D. (2010). Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering. N Engl J Med 362 (8): 677–685 (https://doi.org/10.1056/NEJMoa0902630).
Barnes TD, Wozniak DF, Gutierrez J, Han T-U, Drayna D, Holy TE. (2016). A mutation associated with stuttering alters mouse pup ultrasonic vocalizations. Curr Biol 26 (08): 1009–1018 (https://doi.org/10.1016/j.cub.2016.02.068).
Han T-U, Root J, Reyes LD, Huchinson EB, Hoffmann J du, Lee W-S, Barnes TD, Drayna D. (2019). Human GNPTAB stuttering mutations engineered into mice cause vocalization deficits and astrocyte pathology in the corpus callosum. Proc Natl Acad Sci USA 116 (35): 17515–17524 (https://doi.org/10.1073/pnas.1901480116).
Kraft SJ, DeThorne LS. (2014). The Brave New World of Epigenetics: Embracing Complexity in the Study of Speech and Language Disorders. Curr Dev Disord Rep 1 (3): 207–214 (https://doi.org/10.1007/s40474-014-0024-4).
