Table 1_Successful bilateral electroconvulsive therapy for catatonia presenting with novel climbing behavior in an adolescent with CACNA1A pathogenic variant and autism spectrum disorder: a case report.docx

Pathogenic gene variants are relatively common in patients with neurodevelopment disorders comorbid with catatonia. In this report, we describe diagnosis and the treatment of catatonia in a 16-year-old boy with a CACNA1A pathogenic variant (which is associated with deficit in neuronal communication and neurotransmitter release). This case describes an adolescent with a CACNA1A pathogenic variant and autism spectrum disorder who develops catatonia and was safely and successfully treated with bilateral electroconvulsive therapy (ECT). Additionally, we describe a unique presenting symptom of climbing behaviors that was contextualized as a symptom of catatonia and discuss psychopharmacological interventions. To monitor treatment response, we utilized observational data collected by a behavior analyst, as well as physician and parent report via Busch-Francis Catatonia Rating Scale and Catatonia Impact Scale respectively. All three reports showed significant improvement in catatonic symptoms following treatment with ECT. The overall aim is to improve the management of catatonia in rare genetic disorders, demonstrate effective use of ECT in cases with this pathogenic variant, and provide guidance to clinicians and hope for patients and families struggling with this comorbidity.

伴发紧张症（catatonia）的神经发育障碍患者中，致病性基因变异相对常见。本病例报告了1例携带CACNA1A致病性变异的16岁男性患者的紧张症诊断与治疗情况——该变异与神经元通信功能缺陷及神经递质释放异常相关。该青少年患者同时存在CACNA1A致病性变异与孤独症谱系障碍，随后出现紧张症，并经双侧电抽搐治疗（electroconvulsive therapy, ECT）获得了安全且有效的治疗。此外，本病例还报告了一例独特的首发症状——攀爬行为，并将其归类为紧张症的临床表现之一，同时讨论了精神药物干预方案。为监测治疗反应，我们采用了行为分析师收集的观察数据，以及医师和家长分别通过Busch-Francis紧张症评定量表（Busch-Francis Catatonia Rating Scale）和紧张症影响量表（Catatonia Impact Scale）提交的评估报告。三项评估结果均显示，接受ECT治疗后，患者的紧张症症状得到显著改善。本研究的总体目标为优化罕见遗传病合并紧张症的诊疗管理，证实该致病性基因变异携带者病例中ECT的临床应用价值，并为临床医师提供诊疗指导，同时为受该共病困扰的患者及家属带来希望。