这项神经心理学研究的目的是对1型进行性肌阵挛性癫痫患者(Unverricht-Lundborg病,EPM1)是表征EPM1患者的认知功能,并探讨由疾病引起的残疾与认知表现之间的关系。
68例CSTB基因扩展突变纯合的经基因验证的EPM1患者(男性37例,女性31例,年龄35±11岁)参与了智力的神经心理学评估,口头记忆,以及执行和精神运动功能。临床评估包括给予(和录像)统一的肌阵挛性评定量表(UMRS)以评估每位患者肌阵挛性的严重程度。46名健康志愿者(男性19名,女性27名,年龄32±11岁)作为神经心理学测试的对照组。
EPM1患者组的认知能力受损。49%的患者的言语智商(VIQ)低于平均范围(VIQ<85);进一步,75%的患者表现智商(PIQ)低于平均水平。患者在即时和延迟故事回忆中的表现都比对照组差(p=0.001);然而,在单词列表中学习任务,患者的表现仅比对照组稍差。两组中学习单词的一小时延迟回忆相似,保留的单词和故事内容的百分比在患者和对照组之间没有差异。患者在所有执行功能测试以及精神运动速度测试中均受损(全部p<0.001)。此外,与对照组相比,患者在攻丝任务中的单纯精神运动速度显著减慢(p<0.001).
患者在大多数认知测量中表现受损;他们在所有执行功能测试和精神运动速度测试中表现出最高水平的损害。这些认知域的测量是定时的-因此,很明显,严重的肌阵挛会限制患者的表现。相比之下,口头记忆,尤其是延迟召回,是受影响最小的认知领域。
The aim of this neuropsychological study of a large cohort of patients with progressive myoclonus epilepsy type 1 (Unverricht-Lundborg disease, EPM1) was to characterize the cognitive function of EPM1 patients and to explore the association between the disability caused by the disease and cognitive performance.
Sixty-eight genetically verified EPM1 patients homozygous for the expansion mutation in the CSTB gene (37 males and 31 females aged 35 ± 11) participated in a neuropsychological assessment of intellectual ability, verbal memory, and executive and psychomotor function. The clinical evaluation comprised administering (and video-recording) the unified myoclonus rating scale (UMRS) to assess the severity of each patient\'s myoclonus. Forty-six healthy volunteers (19 males and 27 females aged 32 ± 11) served as the control group for the neuropsychological tests.
The cognitive performance of the EPM1 patient group was impaired. Verbal Intelligence Quotient (VIQ) was below the average range (VIQ < 85) in 49% of the patients; further, Performance Intelligence Quotient (PIQ) was below average in 75% of the patients. The patients performed worse than the controls in both immediate and delayed story recall (p = 0.001); however, in the word list learning task, the patients performed only slightly worse than the controls. The one-hour delayed recall of the learned words was similar in both groups, and the percentage of retained words and story contents did not differ between the patients and controls. The patients were impaired in all of the executive function tests as well as in the psychomotor speed tests (p < 0.001 for all). Also, the patients\' simple psychomotor speed in the tapping task was significantly slowed in comparison to controls (p < 0.001).
The patients had impaired performance in the majority of the cognitive measures; they showed the highest level of impairment in all the executive function tests and in the psychomotor speed tests. The measures of these cognitive domains are timed-therefore, it is clear that severe myoclonus limits patients\' performance. In contrast, verbal memory, especially delayed recall, was the least affected cognitive domain.