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Neuropsychological and neuroimaging investigations of an inherited disorder of speech and language

Watkins, Kathryn Emma; (1999) Neuropsychological and neuroimaging investigations of an inherited disorder of speech and language. Doctoral thesis (Ph.D.), University College London (United Kingdom). Green open access

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A disorder of speech and language affects half of the members of the KE family, and cosegregates with a genetic abnormality on chromosome 7 (Fisher et al. 1998). Members of this family were investigated neuropsychologically and with functional aid structural imaging. Neuropsychological investigations revealed that affected family members (n=13) were impaired relative to unaffected members (n=12) on several tests assessing language, nonverbal intelligence and praxis. The two groups could be successfully discriminated, however, solely on the basis of a measure of articulation. It is suggested that the core deficit is one affecting articulation, and that, in a developmiental context, this might give rise to secondary deficits in other cognitive domains. The pattern of impairment in affected members was contrasted with that in patients with acquired aphasia (n=11), who were also impaired in articulation. The deficit in articulation might also explain the findings in four affected members of a significant difference in implicit processing of regular versus irregular verbs and of an impairment in processing sentences containing auxiliary verbs. Investigation of auditory processing in this family did not reveal any significant impairment. A positron emission tomography study of two affected family members revealed several regions of the left hemisphere that were functionally either overactive or underactive during word repetition, including the caudate nucleus and other motor regions and areas involved in speech production. Analysis of magnetic resonance imaging scans, acquired in ten affected and seven unaffected family members, showed that the former had abnormal amounts of grey matter in a number of brain areas, including the caudate nucleus bilaterally. Further analysis of the scans confirmed that this structure was abnormally small bilaterally in the affected family members, and it was proposed that this abnormality is responsible, at least in part, for their core deficit.

Type: Thesis (Doctoral)
Qualification: Ph.D.
Title: Neuropsychological and neuroimaging investigations of an inherited disorder of speech and language
Open access status: An open access version is available from UCL Discovery
Language: English
Additional information: Thesis digitised by ProQuest.
Keywords: DXN048085; Biological sciences
URI: https://discovery.ucl.ac.uk/id/eprint/10098065
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