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Behavioural analysis of an inherited speech and language disorder: comparison with acquired aphasia

Behavioural analysis of an inherited speech and language disorder: comparison with acquired aphasia,10.1093/brain/awf058,Brain,K. E. Watkins,N. F. Dro

Behavioural analysis of an inherited speech and language disorder: comparison with acquired aphasia   (Citations: 101)
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Summary Genetic speech and language disorders provide the opportunity to investigate the biological bases of lan- guage and its development. Critical to these investiga- tions 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 trans- mitted as an autosomal-dominant monogenic trait. The cognitive manifestations of this disorder were investi- gated 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 pheno- type, and to explain how such a deficit during develop- ment might give rise to the range of other impairments demonstrated by affected family members. The affected family members were compared both with the unaf- fected 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 pat- terns successfully discriminated the affected and unaf- fected 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 per- formed 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 def- icit, which itself might give rise to a host of other lan- guage deficits, is separate from a more general verbal and non-verbal developmental delay.
Journal: Brain , vol. 125, no. 3, pp. 452-464, 2002
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    • ...Research in speech genetics across twin, family, and molecular studies has also shown certain speech and language disorders to support the presence of a genetic component (Grigorenko, 2009; Watkins, Dronkers, & Vargha-Khadem, 2002)...

    Selena Ee-Li Younget al. Communication and cognition profiles in parents of children with nonsy...

    • ...The caudate nucleus is bilaterally small in at least some members of the KE family as a result of a mutation of the FOXP2 gene, and is associated with poor speech production abilities, poor grammatical comprehension, and impaired phonological skills (Lai, Fisher, Hurst, Vargha-Khadem, & Monaco, 2001; Lieberman, 2006; MacDermot et al, 2005; Vargha-Khadem, Gadian, Copp, & Mishkin, 2005; Watkins, Dronkers, & Vargha-Khadem, 2002)...

    Trevor A. Harleyet al. Decline and fall: A biological, developmental, and psycholinguistic ac...

    • ...In-depth studies of the KE family showed that, in these individuals, speech production problems are accompanied by a complex array of linguistic deficits that include varying degrees of expressive and written language problems and, in some members, nonverbal cognitive impairments [12]...
    • ...Brain imaging studies of KE family members have also revealed structural and functional abnormalities in the cerebellum and striatum [12,35,36]...
    • ...Affected individuals were found to have reduced gray matter densities in the caudate nucleus, the cerebellum, the inferior frontal gyrus and the lower primary motor cortex [12,35]...

    Dianne F Newburyet al. Recent advances in the genetics of language impairment

    • ... This discovery began with the characterization of a three-generation family who had deficits in orofacial praxis, expressive language, receptive vocabulary and grammar, and nonverbal coding skills...

    Christopher W Carret al. Chiari I malformation, delayed gross motor skills, severe speech delay...

    • ...Therefore, it is reasonable to look for risk alleles to schizophrenia vulnerability in FOXP2, a gene for which an implication in the development of language is well accepted [13,30]...

    Amparo Tolosaet al. FOXP2 gene and language impairment in schizophrenia: association and e...

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