Connors Michael H, Sachdev Perminder S, Colebatch James G, Taylor Mark S, Trollor Julian, Mohan Adith
Centre for Healthy Brain Ageing, UNSW Sydney, Sydney, NSW, Australia.
Neuropsychiatric Institute, Prince of Wales Hospital, Sydney, NSW, Australia.
Front Psychiatry. 2024 Jul 26;15:1416736. doi: 10.3389/fpsyt.2024.1416736. eCollection 2024.
Down syndrome regression disorder (DSRD) is a rare condition involving subacute cognitive decline, loss of previously acquired developmental skills, and prominent neuropsychiatric symptoms, particularly catatonia, in people with Down syndrome. It is thought to involve both autoimmune and neuropsychiatric mechanisms. Research, however, is largely restricted to case studies and retrospective case series and is particularly limited in terms of prospective longitudinal follow-up. We report a case study of a person with DSRD who received both immunomodulatory (intravenous immunoglobulin; IVIG) and psychiatric interventions (electroconvulsive therapy, ECT) over two years with regular assessments using caregiver and clinician ratings. This revealed a small, unsustained response to IVIG and a rapid, sustained response once ECT was introduced. The case highlights the importance of multimodal assessment involving multiple medical specialties, the need to trial different therapies due to the condition's complexity, and the significant barriers that patients and their families face in accessing care.
唐氏综合征退行性疾病（DSRD）是一种罕见病症，表现为唐氏综合征患者出现亚急性认知衰退、丧失先前习得的发育技能以及显著的神经精神症状，尤其是紧张症。该病被认为涉及自身免疫和神经精神机制。然而，相关研究主要局限于病例研究和回顾性病例系列，前瞻性纵向随访方面尤为有限。我们报告了一例DSRD患者的病例研究，该患者在两年内接受了免疫调节治疗（静脉注射免疫球蛋白；IVIG）和精神科干预（电休克治疗，ECT），并通过照顾者和临床医生评分进行定期评估。结果显示，患者对IVIG有轻微且不持续的反应，而引入ECT后则出现快速且持续的反应。该病例凸显了多学科综合评估的重要性、由于病情复杂需要尝试不同治疗方法以及患者及其家庭在获得治疗方面面临的重大障碍。
