Ataxia Unit, Cognitive Behavioral Neurology Unit, Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Cognitive Neuroscience Research Unit (URNC), Department of Psychiatry and Forensic Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.
Brain. 2018 Jan 1;141(1):248-270. doi: 10.1093/brain/awx317.
Cerebellar cognitive affective syndrome (CCAS; Schmahmann's syndrome) is characterized by deficits in executive function, linguistic processing, spatial cognition, and affect regulation. Diagnosis currently relies on detailed neuropsychological testing. The aim of this study was to develop an office or bedside cognitive screen to help identify CCAS in cerebellar patients. Secondary objectives were to evaluate whether available brief tests of mental function detect cognitive impairment in cerebellar patients, whether cognitive performance is different in patients with isolated cerebellar lesions versus complex cerebrocerebellar pathology, and whether there are cognitive deficits that should raise red flags about extra-cerebellar pathology. Comprehensive standard neuropsychological tests, experimental measures and clinical rating scales were administered to 77 patients with cerebellar disease-36 isolated cerebellar degeneration or injury, and 41 complex cerebrocerebellar pathology-and to healthy matched controls. Tests that differentiated patients from controls were used to develop a screening instrument that includes the cardinal elements of CCAS. We validated this new scale in a new cohort of 39 cerebellar patients and 55 healthy controls. We confirm the defining features of CCAS using neuropsychological measures. Deficits in executive function were most pronounced for working memory, mental flexibility, and abstract reasoning. Language deficits included verb for noun generation and phonemic > semantic fluency. Visual spatial function was degraded in performance and interpretation of visual stimuli. Neuropsychiatric features included impairments in attentional control, emotional control, psychosis spectrum disorders and social skill set. From these results, we derived a 10-item scale providing total raw score, cut-offs for each test, and pass/fail criteria that determined 'possible' (one test failed), 'probable' (two tests failed), and 'definite' CCAS (three tests failed). When applied to the exploratory cohort, and administered to the validation cohort, the CCAS/Schmahmann scale identified sensitivity and selectivity, respectively as possible exploratory cohort: 85%/74%, validation cohort: 95%/78%; probable exploratory cohort: 58%/94%, validation cohort: 82%/93%; and definite exploratory cohort: 48%/100%, validation cohort: 46%/100%. In patients in the exploratory cohort, Mini-Mental State Examination and Montreal Cognitive Assessment scores were within normal range. Complex cerebrocerebellar disease patients were impaired on similarities in comparison to isolated cerebellar disease. Inability to recall words from multiple choice occurred only in patients with extra-cerebellar disease. The CCAS/Schmahmann syndrome scale is useful for expedited clinical assessment of CCAS in patients with cerebellar disorders.awx317media15678692096001.
小脑认知情感综合征(CCAS; Schmahmann 综合征)的特征是执行功能、语言处理、空间认知和情感调节缺陷。目前的诊断依赖于详细的神经心理学测试。本研究旨在开发一种办公或床边认知筛查工具,以帮助识别小脑患者的 CCAS。次要目标是评估现有的简要心理功能测试是否能检测出小脑患者的认知障碍,孤立性小脑病变与复杂脑-小脑病变患者的认知表现是否不同,以及是否存在认知缺陷,应引起对小脑外病变的关注。对 77 例小脑疾病患者(36 例孤立性小脑变性或损伤,41 例复杂脑-小脑病变)和 55 例健康匹配对照进行了全面的标准神经心理学测试、实验测量和临床评分。将与对照组患者区分开来的测试用于开发一种筛查工具,该工具包含 CCAS 的主要特征。我们在另一组 39 例小脑患者和 55 例健康对照组中验证了这个新量表。我们使用神经心理学措施证实了 CCAS 的定义特征。执行功能缺陷在工作记忆、思维灵活性和抽象推理方面最为明显。语言缺陷包括动词生成和音素>语义流畅性。视觉空间功能受损,表现和解释视觉刺激。神经精神特征包括注意力控制、情绪控制、精神病谱系障碍和社交技能障碍。基于这些结果,我们得出了一个包含 10 个项目的量表,提供了总原始分数、每个测试的截止值以及确定“可能”(一个测试失败)、“可能”(两个测试失败)和“确定”CCAS(三个测试失败)的通过/失败标准。当应用于探索性队列并应用于验证性队列时,CCAS/Schmahmann 量表的灵敏度和选择性分别为:探索性队列:85%/74%,验证性队列:95%/78%;可能的探索性队列:58%/94%,验证性队列:82%/93%;明确的探索性队列:48%/100%,验证性队列:46%/100%。在探索性队列的患者中,迷你精神状态检查和蒙特利尔认知评估评分均在正常范围内。与孤立性小脑疾病相比,复杂脑-小脑疾病患者在相似性方面受损。只有在有小脑外疾病的患者中,才会出现从多项选择中回忆单词的能力下降。CCAS/Schmahmann 综合征量表可用于加速对小脑疾病患者的 CCAS 进行临床评估。