Prognostic Counseling for Patients With Idiopathic/Isolated Rapid Eye Movement Sleep Behavior Disorder: Should We Tell Them What's Coming? No
Prognostic Counseling for Patients With Idiopathic/Isolated Rapid Eye Movement Sleep Behavior Disorder: Should We Tell Them What's Coming? No
复制标题
特发性/孤立性快速眼动睡眠行为障碍患者的预后咨询：我们应该告诉他们即将发生什么吗？
DOI：
10.1002/mdc3.12813
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发表时间：
2019
影响因子：
4
通讯作者：
F. Sixel
中科院分区：
文献类型：
--
作者：
F. Sixel
现实世界的神经病学最近的一个插曲：一位66岁的男性患者出现在我们的运动障碍门诊，有运动功能减退-僵硬症状。诊断检查证实了帕金森病（PD）的最初假设。此外，快速眼动（REM）睡眠行为障碍（RBD）的视频支持的多导睡眠图。当讨论诊断结果时，他的妻子评论RBD的存在：“哦，那个......，但他已经在睡梦中做了20多年了我一直以为是因为他的童年不好过！”当被介绍到RBD是突触核蛋白病综合征的一部分，可能出现PD的前驱到运动表现的概念时，这对夫妇变得非常激动，并责备自己忽视了寻求早期的医疗咨询，因为他们假设在孤立的RBD阶段进行早期医疗干预可以预防PD的表现。主治神经科医生很难解释说，没有什么损失，他们没有疏忽，而且过去和现在都没有预防性治疗。这一事件说明了医生面对特发性/孤立性RBD（iRBD）患者的困境：表型转换可能需要相当长的时间。在这段人生中，一个人通常还处于他或她的职业生涯中，忙碌家庭、事业和社会生活。如果无条件地说“是”，完全披露一种潜在的、使人衰弱的、无法治愈的疾病正在大脑中蔓延，而没有任何可用的疾病缓解治疗来预防或至少延缓其进展，可能会造成严重的情绪或心理困扰。然而，患者有权充分了解他们的诊断，并根据循证医学就治疗和预后方面提出建议。主动隐瞒信息是不尊重病人的自主权，也违反了我们专业的道德准则。强调iRBD与α-突触核蛋白病（如PD、路易体痴呆或MSA）相关的科学证据令人信服，不容忽视。20多年前，发表了第一项研究，显示iRBD转化为PD。在RBD发病后约14年，81%最初诊断为特发性RBD的患者发展为帕金森综合征和/或痴呆。其他研究组证实了这些RBD先于突触核蛋白介导的神经退行性疾病超过十年的发现，从iRBD诊断时起，5年时的神经系统无疾病生存率为65.2%，14年时为7.5%。因此，RBD现在被推荐作为研究前驱PD的临床队列中的生物标志物。到目前为止，公众和研究人员都可以获得这些信息，例如，互联网搜索将很快揭示iRBD与神经退行性疾病的关联。因此，我们应该满足患者对可靠的最新信息的需求。问题是，在多导睡眠图确认诊断时，无条件披露所有iRBD受试者即将发生的神经退行性疾病是否真正合适。目前缺乏疾病修饰治疗，以及睡眠障碍的第一次表现和表型转化为明显的帕金森综合征和/或痴呆症之间的潜在长期差距，必须加以考虑。已经描述了从患者病史引起的iRBD发作到临床表现PD长达半个世纪的潜伏期，并且已经发表了iRBD患者的长期随访数据。根据年龄、合并症和预期寿命，诊断患有iRBD的个体可能在其一生中从未经历过帕金森综合征和/或痴呆的临床相关表现。此外，目前还不清楚是否来自iRBD队列的预后数据，因为暴力的梦想制定而提交给专门的睡眠中心，可以推广到那些RBD或孤立的REM睡眠的人，
A recent episode from real-world neurology: A 66-year-old male patient presented to our movement disorders clinic with hypokinetic-rigid symptoms. The diagnostic workup confirmed the initial hypothesis of Parkinson’s disease (PD). Furthermore, rapid eye movement (REM) sleep behavior disorder (RBD) was identified on video-supported polysomnography. When diagnostic findings were discussed, his wife commented on the presence of RBD: “Oh, that..., but he’s been doing that in his sleep for over 20 years! I always thought it was because of his difficult childhood!” When introduced to the concept that RBD is part of the synucleinopathy syndrome complex and may appear prodromal to motor manifestation of PD, the couple grew quite agitated and reproached themselves for neglecting to seek earlier medical counseling in the assumption that an early medical intervention at the stage of isolated RBD could have prevented the manifestation of PD. The attending neurologist had a hard time explaining that nothing was lost, there had been no negligence on their part, and that there was and currently is no preventive treatment available. This episode illustrates the dilemma of physicians confronted with patients showing idiopathic/isolated RBD (iRBD): Phenoconversion may take quite a long time. During this period of life, a person is usually still in the midst of his or her professional life, is busy with family, career, and social life. An unconditional “yes” to full disclosure of a potentially developing debilitating and uncurable disease forging its way through the brain without any available disease-modifying treatment to prevent, or at least delay its progression, may cause serious emotional or psychological distress. However, patients have the right to be adequately informed about their diagnosis and advised on therapy and prognostic aspects according to evidence-based medicine. To actively withhold information disrespects patients’ autonomy and violates the ethical codes of our profession. The scientific evidence underlining the association of iRBD with an alpha-synucleinopathy, such as PD, Lewy body dementia, or MSA, is compelling and cannot be ignored. Over 20 years ago, the first study was published showing the conversion of iRBD into PD. Approximately 14 years after the onset of RBD, 81% of patients originally diagnosed with idiopathic RBD had developed parkinsonism and/or dementia. Other study groups confirmed these findings of RBD preceding a synuclein-mediated neurodegenerative disease by more than a decade, with a neurological disease-free survival rate from the time of iRBD diagnosis of 65.2% at 5 years and 7.5% at 14 years. Therefore, RBD is now recommended as a biomarker in clinical cohorts investigating prodromal PD. By now, this information is accessible to the general public and research, for example, an Internet search will reveal the association of iRBD to neurodegenerative disease very quickly. So we should meet patients’ need for trustworthy, up-to-date information. The question is whether unconditional disclosure of an impending neurodegenerative disease for all iRBD subjects at the time of polysomnographic confirmation of the diagnosis is truly appropriate. The current lack of disease-modifying treatments, as well as the potentially long gap between the first manifestation of the sleep disorder and phenoconversion to overt parkinsonism and/or dementia, has to be considered. A latency period from iRBD onset by the patient’s history to clinically manifest PD of up to half a century has been described, and long-term followup data of patients remaining with iRBD have been published. Depending on age, comorbidities, and life expectancy, an individual diagnosed with iRBD may never during his or her lifetime experience clinically relevant manifestation of parkinsonism and/or dementia. Furthermore, it is still unclear whether or not prognostic data derived from iRBD cohorts presenting to specialized sleep centers because of violent dream enactment may be generalized to those in whom RBD or isolated REM sleep
影响因子：
14.5
作者：
Postuma, Ronald B.;Iranzo, Alex;Pelletier, Amelie
通讯作者：
Pelletier, Amelie