Dhossche Dirk, de Billy Clément, Laurent-Levinson Claudine, Le Normand Marie T, Recasens Christophe, Robel Laurence, Philippe Anne
Department of Adolescent Psychiatry, Inland Northwest Behavioral Health, Spokane, WA, United States.
CEMNIS - Noninvasive Neuromodulation Center, University Hospital Strasbourg, Strasbourg, France.
Front Psychiatry. 2023 Sep 22;14:1186555. doi: 10.3389/fpsyt.2023.1186555. eCollection 2023.
Individuals with Phelan-McDermid syndrome (PMS) present with a wide range of diagnoses: autism spectrum disorder, intellectual disability, or schizophrenia. Differences in the genetic background could explain these different neurodevelopmental trajectories. However, a more parsimonious hypothesis is to consider that they may be the same phenotypic entity. Catatonic disturbances occasionally reported from adolescence onwards in PMS prompts exploration of the hypothesis that this clinical entity may be an early-onset form of catatonia. The largest cohort of children with childhood catatonia was studied by the Wernicke-Kleist-Leonhard school (WKL school), which regards catatonia as a collection of qualitative abnormalities of psychomotricity that predominantly affecting involuntary motricity (reactive and expressive). The aim of this study was to investigate the presence of psychomotor signs in three young adults carrying a mutation or intragenic deletion of the gene through the prism of the WKL school conception of catatonia.
This study was designed as an exploratory case study. Current and childhood psychomotor phenomena were investigated through semi-structured interviews with the parents, direct interaction with the participants, and the study of documents reporting observations of the participants at school or by other healthcare professionals.
The findings show catatonic manifestations from childhood that evolved into a chronic form, with possible phases of sub-acute exacerbations starting from adolescence.
The presence of catatonic symptoms from childhood associated with autistic traits leads us to consider that this singular entity fundamentally related to mutations could be a form of early-onset catatonia. Further case studies are needed to confirm our observations.
患有费兰-麦克德米德综合征（PMS）的个体有多种诊断结果：自闭症谱系障碍、智力残疾或精神分裂症。基因背景的差异可能解释了这些不同的神经发育轨迹。然而，一个更简洁的假设是认为它们可能是同一表型实体。PMS中从青春期开始偶尔报告的紧张症性障碍促使人们探索这样一种假设，即这种临床实体可能是紧张症的早发型形式。韦尼克-克莱斯特-莱昂哈德学派（WKL学派）研究了最大规模的儿童紧张症队列，该学派将紧张症视为主要影响不自主运动（反应性和表达性）的精神运动质性异常的集合。本研究的目的是通过WKL学派的紧张症概念来调查三名携带该基因突变或基因内缺失的年轻成年人中精神运动体征的存在情况。
本研究设计为探索性案例研究。通过与父母进行半结构化访谈、与参与者直接互动以及研究学校或其他医疗保健专业人员报告的关于参与者观察情况的文件，来调查当前和儿童时期的精神运动现象。
研究结果显示，从儿童时期就出现的紧张症表现发展为慢性形式，从青春期开始可能有亚急性加重阶段。
儿童时期出现的与自闭症特征相关的紧张症症状使我们认为，这种与该基因突变根本相关的独特实体可能是早发型紧张症的一种形式。需要进一步的案例研究来证实我们的观察结果。
