Catatonia in Down syndrome: systematic approach to diagnosis, treatment and outcome assessment based on a case series of seven patients
Catatonia in Down syndrome: systematic approach to diagnosis, treatment and outcome assessment based on a case series of seven patients
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DOI：
10.2147/ndt.s210613
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发表时间：
2019-01-01
影响因子：
3.2
通讯作者：
Ithman, Muaid
中科院分区：
文献类型：
--
作者：
Miles, Judith H.;Takahashi, Nicole;Ithman, Muaid
目的：通过描述第一个前瞻性、连续、特征明确的7名唐氏综合征（DS）年轻人诊断为紧张症并在2013年至2018年期间接受治疗的队列，并评估每位患者的治疗反应，扩大我们对青少年和年轻人唐氏综合征（DS）中发生的紧张症的认识。每位患者对治疗反应的纵向评估旨在为临床医生和精神科医生提供评估治疗效果的坚实基础。研究设计：患有唐氏综合症的年轻成年人被连续纳入研究，因为他们被诊断为紧张症。一个全面的数据集包括医学、实验室、发展、人口、家庭、社会和遗传数据，包括对退行性痴呆患者有风险的疾病的查询。紧张症的诊断基于明确的退行史、Bush-Francis紧张症评定量表阳性和静脉注射劳拉西泮阳性反应。使用紧张症影响量表（CIS）监测患者的纵向进展。结果：连续7例出现明确退行性退行性椎体滑移的患者被诊断为紧张症，并使用标准治疗方法治疗2.7-6年；主要是GABA激动剂，劳拉西泮，电休克治疗（ECT）和谷氨酸拮抗剂（右美沙芬/奎尼丁，美金刚，米诺环素）。通过门诊就诊和每周电子CIS报告评估对每种治疗方式的反应。结论：7例青年退行性椎体滑移患者诊断为紧张症；所有人对劳拉西泮和/或ECT治疗都有良好到非常好的效果。虽然电痉挛疗法最显著地使患者恢复到基线，但症状经常复发，需要额外的电痉挛疗法。右美沙芬/奎尼丁，直到2017年年中才使用，似乎减少了ECT后症状的复发。虽然所有7名患者都有了明显的改善，但每个人都需要某种形式的治疗来维持良好的功能水平。在这一人群中发现大量自身免疫性疾病和免疫激活的实验室标记物可能指导新的诊断和治疗机会。
Objective: The goal is to expand our knowledge of catatonia occurring in adolescents and young adults with Down syndrome (DS) by describing the first prospective, consecutive, well-characterized cohort of seven young people with DS diagnosed with catatonia and treated between 2013 and 2018, and to assess each patient's treatment responses. Longitudinal assessment of each patient's response to treatment is intended to provide clinicians and psychiatrists a firm foundation from which assess treatment efficacy.Study design: Young adults with Down syndrome were consecutively enrolled in the study as they were diagnosed with catatonia. A comprehensive data set included medical, laboratory, developmental, demographic, family, social and genetic data, including query into disorders for which individuals with DS are at risk. Catatonia was diagnosed based on an unequivocal history of regression, positive Bush-Francis Catatonia Rating Scale and positive response to intravenous lorazepam. Patients' longitudinal progress was monitored using the Catatonia Impact Scale (CIS) developed for this purpose.Results: Seven consecutive DS patients, who presented with unequivocal regression were diagnosed with catatonia and treated for 2.7-6 years using standard-of-care therapies; primarily GABA agonist, lorazepam, electroconvulsive therapy (ECT) and glutamate antagonists (dextromethorphan/quinidine, memantine, minocycline). Responses to each treatment modality were assessed at clinic visits and through weekly electronic CIS reports.Conclusion: Seven young adults with DS were diagnosed with catatonia; all responded to Lorazepam and/or ECT therapy with good to very good results. Though ECT most dramatically returned patients to baseline, symptoms often returned requiring additional ECT. Dextromethorphan/quinidine, not used until mid-2017, appeared to reduce the reoccurrence of symptoms following ECT. Though all seven patients improved significantly, each continues to require some form of treatment to maintain a good level of functioning. Findings of a significant number of autoimmune disorders and laboratory markers of immune activation in this population may guide new diagnostic and treatment opportunities.