Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech

作者: Elizabeth A Worthey , Gordana Raca , Jennifer J Laffin , Brandon M Wilk , Jeremy M Harris

DOI: 10.1186/1866-1955-5-29

关键词: Developmental verbal dyspraxiaNeuropsychologyClinical psychologyMotor speech disordersSpeech disorderMedicineDevelopmental psychologyChildhood apraxia of speechExome sequencingFOXP2Genetic heterogeneity

摘要: Background Childhood apraxia of speech (CAS) is a rare, severe, persistent pediatric motor speech disorder with associated deficits in sensorimotor, cognitive, language, learning and …

参考文章(113)
Simon E. Fisher, Building bridges between genes, brains and language Bolhuis, J.J.;Everaert, M. (ed.), Birdsong, speech and language: Exploring the evolution of mind and brain. pp. 425- 454 ,(2013)
Jennifer Goldblatt, Fran Friedman, Oral and Written Language Scales (OWLS). Diagnostique. ,vol. 24, pp. 197- 209 ,(1999) , 10.1177/153450849902401-417
Robert C. Berwick, Johan J. Bolhuis, Martin Everaert, Noam Chomsky, Birdsong, Speech, and Language: Exploring the Evolution of Mind and Brain The MIT Press. ,(2013)
Malcolm Ray McNeil, Clinical management of sensorimotor speech disorders : Thieme. ,(1997)
Alan S. Kaufman, Nadeen L. Kaufman, Kaufman Brief Intelligence Test, Second Edition Encyclopedia of Special Education. ,(2014) , 10.1002/9781118660584.ESE1325
F Vargha-Khadem, JA Hurst, SE Fisher, AP Monaco, Csl Lai, A novel forkhead-domain gene is mutated in a severe speech and language disorder American Journal of Human Genetics. ,(2001)
Jose C Rios, Carmen V Melendez-Vasquez, Steven Einheber, Marc Lustig, Martin Grumet, John Hemperly, Elior Peles, James L Salzer, None, Contactin-associated protein (Caspr) and contactin form a complex that is targeted to the paranodal junctions during myelination. The Journal of Neuroscience. ,vol. 20, pp. 8354- 8364 ,(2000) , 10.1523/JNEUROSCI.20-22-08354.2000