Kéri S, Janka Z
Department of Psychiatry, University of Szeged, Szeged, Hungary.
Acta Psychiatr Scand. 2004 Aug;110(2):83-91. doi: 10.1111/j.1600-0047.2004.00359.x.
Cognitive dysfunctions are potential endophenotypes of schizophrenia. The aim of this study was to investigate whether recent evidence indeed suggests that cognitive dysfunctions are potent indicators of specific genetic traits that represent susceptibility for schizophrenia.
Studies including large, well-defined samples and controlled cognitive assessment have been reviewed.
Evidence suggests that schizophrenia patients and their unaffected biological relatives are impaired in several cognitive domains, including working memory, executive functions, sustained attention, verbal episodic memory, processing of visual and auditory stimuli, and smooth pursuit eye movements. However, these impairments are present only in a limited proportion of subjects, showing low specificity and sensitivity and high variability. Linkage with specific genes is weak.
Although some results are promising, at present cognitive dysfunctions cannot be considered as highly sensitive and specific endophenotypes of schizophrenia.
认知功能障碍是精神分裂症潜在的内表型。本研究旨在调查近期证据是否确实表明认知功能障碍是代表精神分裂症易感性的特定遗传特征的有力指标。
对包括大样本、明确界定的样本以及对照认知评估的研究进行了综述。
有证据表明,精神分裂症患者及其未患病的生物学亲属在多个认知领域存在损害,包括工作记忆、执行功能、持续注意力、言语情景记忆、视觉和听觉刺激处理以及平稳跟踪眼球运动。然而,这些损害仅在有限比例的受试者中出现,显示出低特异性和敏感性以及高变异性。与特定基因的联系较弱。
虽然一些结果很有前景,但目前认知功能障碍不能被视为精神分裂症高度敏感和特异的内表型。