Brain, Vol. 125, No. 3, 452-464,
March 2002
© 2002 Guarantors of Brain
Behavioural analysis of an inherited speech and language disorder: comparison with acquired aphasia
1 Developmental Cognitive Neuroscience Unit, Institute of Child Health, University College London Medical School, London, UK and 2 Center for Aphasia and Related Disorders, VA Northern California Health Care Center, Martinez, California, USA
Correspondence to: Kate Watkins, Cognitive Neuroscience Unit, Montreal Neurological Institute, 3801 University Street, Montreal, QC, Canada H3A 2B4 E-mail: kwatkins{at}bic.mni.mcgill.ca
Genetic speech and language disorders provide the opportunity to investigate the biological bases of language and its development. Critical to these investigations are the definition of behavioural phenotypes and an understanding of their interaction with epigenetic factors. Here, we report our investigations of the KE family, half the members of which are affected by a severe disorder of speech and language, which is transmitted as an autosomal-dominant monogenic trait. The cognitive manifestations of this disorder were investigated using a number of linguistic and non-linguistic tests. The aims of these investigations were to establish the existence of a ‘core’ deficit, or behavioural phenotype, and to explain how such a deficit during development might give rise to the range of other impairments demonstrated by affected family members. The affected family members were compared both with the unaffected members and with a group of adult patients with aphasia resulting from a stroke. The score on a test of repetition of non-words with complex articulation patterns successfully discriminated the affected and unaffected family members. The affected family members and the patients with aphasia had remarkably similar profiles of impairment on the tests administered. Pre-morbidly, however, the patients with aphasia had enjoyed a normal course of cognitive development and language experience. This benefit was reflected on a number of tests in which the patients with aphasia performed significantly better than the affected family members and, in the case of some tests, at normal levels. We suggest that, in the affected family members, the verbal and non-verbal deficits arise from a common impairment in the ability to sequence movement or in procedural learning. Alternatively, the articulation deficit, which itself might give rise to a host of other language deficits, is separate from a more general verbal and non-verbal developmental delay.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  K. E. Watkins, S. M. Smith, S. Davis, and P. Howell Structural and functional abnormalities of the motor system in developmental stuttering Brain, January 1, 2008; 131(1): 50 - 59. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. C. Vernes, J. Nicod, F. M. Elahi, J. A. Coventry, N. Kenny, A.-M. Coupe, L. E. Bird, K. E. Davies, and S. E. Fisher Functional genetic analysis of mutations implicated in a human speech and language disorder Hum. Mol. Genet., November 1, 2006; 15(21): 3154 - 3167. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. A. White, S. E. Fisher, D. H. Geschwind, C. Scharff, and T. E. Holy Singing Mice, Songbirds, and More: Models for FOXP2 Function and Dysfunction in Human Speech and Language J. Neurosci., October 11, 2006; 26(41): 10376 - 10379. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
I. Teramitsu and S. A. White FoxP2 regulation during undirected singing in adult songbirds. J. Neurosci., July 12, 2006; 26(28): 7390 - 7394. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 L. D. Shriberg, K. J. Ballard, J. B. Tomblin, J. R. Duffy, K. H. Odell, and C. A. Williams Speech, Prosody, and Voice Characteristics of a Mother and Daughter With a 7;13 Translocation Affecting FOXP2. J Speech Lang Hear Res, June 1, 2006; 49(3): 500 - 525. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
T. H. Bak, D. Yancopoulou, P. J. Nestor, J. H. Xuereb, M. G. Spillantini, F. Pulvermuller, and J. R. Hodges Clinical, imaging and pathological correlates of a hereditary deficit in verb and action processing Brain, February 1, 2006; 129(2): 321 - 332. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 R. I. Webster and M. I. Shevell Topical Review: Neurobiology of Specific Language Impairment J Child Neurol, July 1, 2004; 19(7): 471 - 481. [Abstract] [PDF]
|
|
|
|
 |
|
 C. SCHARFF and S. A. WHITE Genetic Components of Vocal Learning Ann. N.Y. Acad. Sci., June 1, 2004; 1016(1): 325 - 347. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
I. Teramitsu, L. C. Kudo, S. E. London, D. H. Geschwind, and S. A. White Parallel FoxP1 and FoxP2 Expression in Songbird and Human Brain Predicts Functional Interaction J. Neurosci., March 31, 2004; 24(13): 3152 - 3163. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Haesler, K. Wada, A. Nshdejan, E. E. Morrisey, T. Lints, E. D. Jarvis, and C. Scharff FoxP2 Expression in Avian Vocal Learners and Non-Learners J. Neurosci., March 31, 2004; 24(13): 3164 - 3175. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. S. L. Lai, D. Gerrelli, A. P. Monaco, S. E. Fisher, and A. J. Copp FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder Brain, November 1, 2003; 126(11): 2455 - 2462. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. Harasty and J. R. Hodges Towards the elucidation of the genetic and brain bases of developmental speech and language disorders Brain, March 1, 2002; 125(3): 449 - 451. [Full Text] [PDF]
|
|