Waltereit Robert, Banaschewski Tobias, Meyer-Lindenberg Andreas, Poustka Luise
Department of Psychiatry and Psychotherapy, Central Institute of Mental Health and University of Heidelberg, Mannheim Medical Faculty , Mannheim , Germany.
World J Biol Psychiatry. 2014 Sep;15(7):507-16. doi: 10.3109/15622975.2013.838641. Epub 2013 Sep 30.
Schizophrenia (SCZ), autism spectrum disorder (ASD) and mental retardation (MR) are psychiatric disorders with high heritability. They differ in their clinical presentation and in their time course of major symptoms, which predominantly occurs for MR and ASD during childhood and for SCZ during young adult age. Recent findings with focus on the developmental neurobiology of these disorders emphasize shared mechanisms of common origin. These findings propose a continuum of genetic risk factors impacting on synaptic plasticity with MR causing impairments in global cognitive abilities, ASD in social cognition and SCZ in both global and social cognition.
We assess here the historical developments that led to the current disease concepts of the three disorders. We then analyse, based on the functions of genes mutated in two or three of the disorders, selected mechanisms shared in neurodevelopmental pathways and synaptic plasticity.
The analysis of the psychopathological constructs supports the existence of three distinct clinical entities but also elaborates important associations. Similarly, there are common mechanisms especially in global and social cognition.
We discuss implications from this integrated view on MR, ASD and SCZ for child & adolescent and adult psychiatry in pathophysiology and research perspectives.
精神分裂症（SCZ）、自闭症谱系障碍（ASD）和智力障碍（MR）是具有高度遗传性的精神疾病。它们在临床表现和主要症状的病程方面存在差异，其中，MR和ASD的主要症状多发生在儿童期，而SCZ的主要症状多发生在青年期。近期有关这些疾病发育神经生物学的研究结果强调了共同起源的共享机制。这些研究结果提出了一系列影响突触可塑性的遗传风险因素，其中MR导致整体认知能力受损，ASD导致社会认知受损，SCZ则在整体认知和社会认知方面均受损。
我们在此评估导致这三种疾病当前疾病概念的历史发展过程。然后，基于在两种或三种疾病中发生突变的基因的功能，分析神经发育途径和突触可塑性中共享的选定机制。
对精神病理学结构的分析支持三种不同临床实体的存在，但也阐述了重要的关联。同样，存在共同机制，尤其是在整体认知和社会认知方面。
我们从这一综合观点出发，讨论其对儿童与青少年精神病学以及成人精神病学在病理生理学和研究视角方面对于MR、ASD和SCZ的意义。
