Chamberlain Samuel R, Fineberg Naomi A, Menzies Lara A, Blackwell Andrew D, Bullmore Edward T, Robbins Trevor W, Sahakian Barbara J
Department of Psychiatry, University of Cambridge School of Clinical Medicine, Addenbrooke's Hospital, Box 189, Cambridge, CB2 2QQ UK.
Am J Psychiatry. 2007 Feb;164(2):335-8. doi: 10.1176/ajp.2007.164.2.335.
Obsessive-compulsive disorder (OCD) is highly heritable. Attempts to delineate precise genetic contributions have met with limited success. There is an ongoing search for intermediate cognitive brain markers (endophenotypes) that may help clarify genetic contributions. The aim was to assess inhibitory control processes in unaffected first-degree relatives of OCD patients for the first time with objective tests.
The Intradimensional/Extradimensional Shift, Stop-Signal, and Cambridge Gamble tasks were administered to 20 unaffected first-degree relatives, 20 OCD patient probands with washing/checking symptoms, and 20 healthy matched comparison subjects without a family history of OCD.
Unaffected first-degree relatives and OCD patient probands showed cognitive inflexibility (extradimensional set shifting) and motor impulsivity (stop-signal reaction times). Decision making (Cambridge Gamble task) was intact.
Deficits in cognitive flexibility and motor inhibition may represent cognitive endophenotypes for OCD. Such measures will play a key role in understanding genotype/phenotype associations for OCD and related spectrum conditions.
强迫症（OCD）具有高度遗传性。确定精确的基因贡献的尝试取得的成功有限。目前正在寻找可能有助于阐明基因贡献的中间认知脑标记（内表型）。目的是首次通过客观测试评估强迫症患者未受影响的一级亲属的抑制控制过程。
对20名未受影响的一级亲属、20名有洗涤/检查症状的强迫症患者先证者以及20名无强迫症家族史的健康匹配对照受试者进行维度内/维度间转换、停止信号和剑桥赌博任务测试。
未受影响的一级亲属和强迫症患者先证者表现出认知灵活性不足（维度间定势转换）和运动冲动性（停止信号反应时间）。决策能力（剑桥赌博任务）未受影响。
认知灵活性和运动抑制缺陷可能是强迫症的认知内表型。这些测量方法将在理解强迫症及相关谱系疾病的基因型/表型关联中发挥关键作用。
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