Division of Child and Adolescent Psychiatry, Department of Psychiatry and Behavioral Sciences, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Division of Child and Adolescent Psychiatry, Oregon Health & Science University, Portland, Oregon, USA.
J Child Adolesc Psychopharmacol. 2024 Nov;34(9):383-396. doi: 10.1089/cap.2024.0055. Epub 2024 Sep 5.
Hyperactive catatonia is often unrecognized in pediatric patients due to its clinical heterogeneity, though it is often seen in children with neurodevelopmental disabilities, especially autism spectrum disorder (ASD). Emerging evidence implicates hyperactive catatonia in more cases of self-injury and aggression in ASD than previously thought. The study seeks to describe cases of hyperactive catatonia in SYNGAP-1 mutation and examine existing literature for symptomatic overlap between previously-described clinical and behavioral phenotypes of individuals with SYNGAP-1 mutations and catatonia. The study describes two cases of an adolescent and a young adult with SYNGAP-1 mutation and ASD presenting with hyperactive catatonia, which are the first reports of catatonia in individuals known to have a pathogenic variant in SYNGAP-1. A systematic review was undertaken during which 101 articles were screened. 13 articles were then examined for neurological and behavioral features present in participants with SYNGAP-1 mutations which are seen in catatonia. The systematic review demonstrates that clinical features suggestive of catatonia are frequently seen among individuals with SYNGAP-1 mutations, including verbal impairment, psychomotor symptoms, aggression, oral aversion, and incontinence. These features were also present in the cases of catatonia in SYNGAP-1 mutations presented here. Both patients showed clinical improvement with use of a long-acting benzodiazepine, and one patient showed benefit from electroconvulsive therapy. This symptomatic overlap revealed in the systematic review, including symptoms seen in the reported cases, raises the possibility that diagnoses of catatonia may have been missed in the past in individuals with SYNGAP-1 mutations. Self-injurious behavior and aggression, which are hallmarks of hyperactive catatonia, are commonly part of the behavioral phenotype of SYNGAP-1-related disorders. Clinicians should consider catatonia as a cause of such symptoms in individuals with SYNGAP-1 mutations, as effective treatment can result in significant improvement in safety and quality of life.
儿童患者的兴奋型紧张症由于其临床表现的异质性，常常无法被识别，尽管它常见于伴有神经发育障碍的儿童，尤其是自闭症谱系障碍（ASD）患者。越来越多的证据表明，兴奋型紧张症与 ASD 患者的自伤和攻击行为比之前认为的更为相关。本研究旨在描述 SYNGAP-1 突变患者中的兴奋型紧张症病例，并对现有文献进行综述，以探讨 SYNGAP-1 突变患者的临床和行为表型与紧张症之间的症状重叠。本研究描述了两名 SYNGAP-1 突变合并 ASD 的青少年和青年患者出现兴奋型紧张症的病例，这是首例报道的已知 SYNGAP-1 致病性变异个体发生紧张症的病例。进行了一项系统评价，共筛选了 101 篇文章。然后，对 13 篇文章进行了检查，以确定 SYNGAP-1 突变患者中存在与紧张症相关的神经和行为特征。系统评价表明，在 SYNGAP-1 突变患者中，经常出现提示紧张症的临床特征，包括言语障碍、精神运动症状、攻击性、口腔厌恶和失禁。这些特征也存在于本研究报道的 SYNGAP-1 突变所致紧张症病例中。两名患者均在使用长效苯二氮䓬类药物后临床症状改善，一名患者电抽搐治疗有效。系统评价中发现的这种症状重叠，包括所报道病例中的症状，提示在过去，SYNGAP-1 突变患者的紧张症诊断可能被遗漏。兴奋型紧张症的标志性自伤和攻击行为是 SYNGAP-1 相关障碍行为表型的一部分。因此，临床医生应考虑将紧张症作为 SYNGAP-1 突变个体出现此类症状的原因，因为有效的治疗可以显著改善安全性和生活质量。
