Ghaziuddin Neera, Nassiri Armin, Miles Judith H
Department of Psychiatry, University of Michigan, Ann Arbor, Michigan, USA.
Community Psychiatry, San Jose, California, University of Missouri, Columbia, Missouri, USA.
Neuropsychiatr Dis Treat. 2015 Apr 2;11:941-9. doi: 10.2147/NDT.S77307. eCollection 2015.
The main aim of this case series report is to alert physicians to the occurrence of catatonia in Down syndrome (DS). A second aim is to stimulate the study of regression in DS and of catatonia. A subset of individuals with DS is noted to experience unexplained regression in behavior, mood, activities of daily living, motor activities, and intellectual functioning during adolescence or young adulthood. Depression, early onset Alzheimer's, or just "the Down syndrome" are often blamed after general medical causes have been ruled out. Clinicians are generally unaware that catatonia, which can cause these symptoms, may occur in DS.
Four DS adolescents who experienced regression are reported. Laboratory tests intended to rule out causes of motor and cognitive regression were within normal limits. Based on the presence of multiple motor disturbances (slowing and/or increased motor activity, grimacing, posturing), the individuals were diagnosed with unspecified catatonia and treated with anti-catatonic treatments (benzodiazepines and electroconvulsive therapy [ECT]).
All four cases were treated with a benzodiazepine combined with ECT and recovered their baseline functioning.
We suspect catatonia is a common cause of unexplained deterioration in adolescents and young adults with DS. Moreover, pediatricians and others who care for individuals with DS are generally unfamiliar with the catatonia diagnosis outside schizophrenia, resulting in misdiagnosis and years of morbidity. Alerting physicians to catatonia in DS is essential to prompt diagnosis, appropriate treatment, and identification of the frequency and course of this disorder.
本病例系列报告的主要目的是提醒医生注意唐氏综合征（DS）中紧张症的发生。第二个目的是促进对DS中退行性变和紧张症的研究。注意到一部分DS个体在青春期或成年早期会出现行为、情绪、日常生活活动、运动活动和智力功能方面无法解释的退行。在排除一般医学原因后，通常会归咎于抑郁症、早发性阿尔茨海默病或仅仅是“唐氏综合征”。临床医生通常没有意识到，可能导致这些症状的紧张症可能发生在DS中。
报告了4名经历退行的DS青少年。旨在排除运动和认知退行原因的实验室检查结果在正常范围内。基于多种运动障碍（运动迟缓或运动活动增加、鬼脸、姿势异常）的存在，这些个体被诊断为未特定型紧张症，并接受了抗紧张症治疗（苯二氮䓬类药物和电休克治疗[ECT]）。
所有4例均接受了苯二氮䓬类药物联合ECT治疗，并恢复到基线功能水平。
我们怀疑紧张症是DS青少年和年轻成人不明原因功能恶化的常见原因。此外，儿科医生和其他照顾DS个体的人员通常对精神分裂症以外的紧张症诊断不熟悉，导致误诊和多年的发病情况。提醒医生注意DS中的紧张症对于及时诊断、适当治疗以及确定这种疾病的频率和病程至关重要。
