Children and adults with Down syndrome may experience unexplained neurodevelopmental regression leading to considerable diagnostic uncertainty as well as morbidity. In this study we describe a series of seven children with Down syndrome presenting with developmental regression, some of whom had lengthy periods of symptomatology and investigation prior to a final diagnosis of catatonia. While catatonia typically presents with immobility, mutism and posturing, these symptoms can often be overlooked if not recognised as catatonic phenomena. Treatment with lorazepam led to improvement in symptoms in all, eventually reversing the catatonia in some children to previous baseline function. Autistic traits were present upon retrospective analysis, a potentially under recognised co-morbidity. It is essential to recognise catatonia in children with Down syndrome, as this is an under-recognised, treatable cause of developmental regression.

中文翻译：

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紧张症作为唐氏综合症的一个特征：一个未被充分认识的实体？

患有唐氏综合症的儿童和成人可能会经历无法解释的神经发育退化，从而导致相当大的诊断不确定性和发病率。在这项研究中，我们描述了一系列出现发育退化的唐氏综合症儿童，其中一些儿童在最终诊断为紧张症之前进行了长时间的症状学和调查。虽然紧张症通常表现为不动、缄默和姿势，但如果不被视为紧张症现象，这些症状通常会被忽视。劳拉西泮治疗使所有症状得到改善，最终将一些儿童的紧张症逆转到以前的基线功能。回顾性分析中存在自闭症特征，这是一种潜在的未被认可的共病。