University of Minnesota Medical School, Minneapolis, MN, USA.
Department of Psychiatry and Behavioral Sciences, University of Minnesota Medical School, Minneapolis, MN, USA.
Schizophr Bull. 2023 Mar 15;49(2):239-243. doi: 10.1093/schbul/sbac200.
Childhood-onset schizophrenia (COS) is a rare and severe form of schizophrenia with an estimated prevalence of 1/10,000. Schizophrenia and Autism spectrum disorder (ASD) have shared phenotypic features and shared genetic etiology. There is growing research surrounding the co-occurrence of psychomotor syndromes like catatonia with neurodevelopmental disorders like ASD or psychiatric disorders like schizophrenia. In 2013, Shorter and Wachtel described a phenomenon of the 'Iron Triangle' where COS, ASD, and catatonia often co-occur. The Iron Triangle theory is based on observation of historical case literature, which showed that all three diagnoses in the Iron Triangle were routinely assigned to children and adolescents. The pattern of this "Iron Triangle" suggests there may be a single underlying pathology resulting in a unique mixed form of catatonia, autism, and psychosis. We describe the case of a boy with sequential development of COS, ASD, and catatonia who also has syndromic facial and musculoskeletal features. This case highlights overlapping diagnostic features of these three disorders and can help us better understand how "hidden" features of catatonia may occur in patients with COS or ASD but go unrecognized, because they are grouped as features under autism/schizophrenia rather than a distinct diagnosis of catatonia. Further study is warranted to elucidate if this phenotypic pattern constitutes a new single diagnosis that is not well understood, an endophenotype of schizophrenia, or if this is the result of phenomenological overlap between catatonia, ASD, and COS.
儿童期起病精神分裂症（COS）是一种罕见且严重的精神分裂症形式，估计患病率为 1/10000。精神分裂症和自闭症谱系障碍（ASD）具有共同的表型特征和共同的遗传病因。越来越多的研究围绕着精神运动综合征（如紧张症）与神经发育障碍（如 ASD）或精神障碍（如精神分裂症）的共病现象展开。2013 年，Shorter 和 Wachtel 描述了一种“铁三角”现象，即 COS、ASD 和紧张症经常同时发生。铁三角理论基于对历史病例文献的观察，这些文献表明，铁三角中的所有三个诊断都常规分配给儿童和青少年。这种“铁三角”模式表明，可能存在一种单一的潜在病理，导致独特的混合紧张症、自闭症和精神病形式。我们描述了一例男孩，他先后发展为 COS、ASD 和紧张症，同时还具有综合征性面部和肌肉骨骼特征。该病例突出了这三种疾病的重叠诊断特征，有助于我们更好地理解紧张症的“隐匿”特征如何在 COS 或 ASD 患者中发生，但由于它们被归类为自闭症/精神分裂症的特征，而不是紧张症的独立诊断，因此未被识别。需要进一步研究阐明这种表型模式是否构成一种新的单一诊断，这种单一诊断尚未被很好地理解，是否是精神分裂症的内表型，或者是否是紧张症、ASD 和 COS 之间的现象学重叠的结果。
