Presymptomatic DNA-testing for Huntington's disease has made it possible to predict whether or not at-risk individuals are gene-carriers with a reliability of about 98%. In our retrospective study of 18 tested individuals, most of the newly identified carriers function apparently well. They use avoidance and repression of affect as psychological defense strategies. However, 8 out of 9 non-carriers do not experience the expected relief about their test results. They experience survivor guilt and emotional numbness and find it difficult to cope with the effects of the test results on the family system. The partners of gene-carriers are at risk of becoming emotionally isolated by putting aside their own feelings for fear of seeming self-centered. Appreciation of these effects on tested individuals is important and professional support is needed to prevent post-traumatic stress disorders. Whatever the test result may be, the working through process may take years rather than months. These findings have important implications for patient care and necessitate an extended period of observation after presymptomatic testing.
Data on the adaptation, reliability, and validity of the Dutch version of the Nottingham Health Profile are discussed. The linguistic adaptation of the English version into Dutch is described, followed by the field-testing procedure and the analyses of data from 276 selected subjects from an average general medical group practice in a village nearby Rotterdam. The internal consistency, Cronbach alphas, of the subscales varied from .70 to .85. Test-retest measures for 51 patients with cardiac problems gave Spearman correlations from .69 to .92, while the interscale relationships yielded six relatively independent areas of discomfort and stress. By means of logistic regression analysis on differences between old versus young, male versus female, and healthy versus ill individuals, discriminant validity was satisfactory. Findings suggest that the psychometric aspects of the Dutch version, also seen from a cross-cultural point of view, are sufficient. Nevertheless, further research on reliability and validity of the Dutch version is required to establish its usefulness with different patient groups.
The semantic system has a central position in the language processing system as the intermediate between language production and language comprehension. The system itself may be separated into distinctive components: visual and lexical semantics. Their is much discussion about the interference between the visual and lexical semantic system and about the quality of the processing routes. Some authors propose a unitary amodal system, other authors plead for modality-specific semantic systems. The stage of perceptual categorization is considered both as optional and as obligatory. The objective of this study is: to investigate visual and lexical semantic processing in aphasic patients (n=74) (control groups: right- hemispheric patients (n=10) and normals (n=96)) (i), to examine the relation between semantic deficits and aphasia type and severity (ii) and to explore the relation between presemantic and semantic visual processing. Instruments to measure presemantic and semantic processing: Object Decision (Riddoch & Humphreys, 1987) and the verbal and visual Semantic Association Test (Visch-Brink e.a.., 1993). Results: aphasie patients as a group were significantly impaired both in Object Decision and visual and verbal semantic processing. Some patients appeared to have a selective deficit in visual or verbal semantic processing (1). No correlation was found between the performance on the visual or verbal Semantic Association Test and the aphasia type or severity (ii). In some patients a dissociation was found between presemantic and semantic visual processing (iii). Conclusions: Visual and lexical semantic processing in aphasia may selectively disturbed, which pleads rather for a multiple than for a unitary semantic processing system. Aphasia type and the severity of aphasia do not function as indicators for the presence of a visual and/or lexical semantic disorder. For the interpretation of the meaning of a picture, the stage of perceptual categorization can be bypassed.
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