Tényi Dalma, Csábi Györgyi, Janszky József, Herold Róbert, Tényi Tamás
Department of Neurology, Medical School, Clinical Center, University of Pécs, Pécs, Hungary.
Department of Pediatrics, Medical School, Clinical Center, University of Pécs, Pécs, Hungary.
Front Psychiatry. 2024 Nov 4;15:1479156. doi: 10.3389/fpsyt.2024.1479156. eCollection 2024.
It has been recognized that subtle, cosmetically insignificant anomalies tend to occur cumulatively in diseases with neurodevelopmental origin. These visible signs of morphogenesis errors are called minor physical anomalies (MPAs), serving as sensitive external markers of abnormal neurodevelopment. After the introduction of the Waldrop Scale, the studies conducted on MPAs in diseases with neurodevelopmental origin gave conflicting results. It has been debated that this discrepancy can be - at least partly - attributed to the use of the Waldrop Scale. Understanding the need of a comprehensive scale of MPAs that also differentiates according to the time of development, Hungarian pediatrician professor of University of Pécs, Károly Méhes developed a scale with 57 items, the only scale differentiating minor malformations from phenogenetic variants. With the use of the Méhes Scale, our research group has been investigating the role of abnormal neurodevelopment in different neuropsychiatric and neurologic disorders since 1997. 25 years into our research, in this review we summarize the results of our 18 research articles on MPAs in different diseases. We have found an increased number of MPAs, especially in the head and mouth region, in patients with schizophrenia, bipolar disorder, Tourette syndrome, autism and many epilepsy syndromes, fortifying the role of abnormal neurodevelopment in these diseases. Moreover, an increased number of MPAs was detected among the first-degree relatives of patients with schizophrenia and bipolar I disorder, supporting the hypothesis about MPAs being endophenotypic trait markers.
人们已经认识到，在神经发育起源的疾病中，细微的、在美容上无明显影响的异常往往会累积出现。这些形态发生错误的可见迹象被称为轻微身体异常（MPA），作为异常神经发育的敏感外部标志物。在引入沃尔德罗普量表后，对神经发育起源疾病中的MPA进行的研究得出了相互矛盾的结果。有人认为，这种差异至少部分可归因于沃尔德罗普量表的使用。匈牙利佩奇大学的儿科教授卡罗伊·梅赫斯认识到需要一个全面的MPA量表，该量表还能根据发育时间进行区分，于是他开发了一个包含57个项目的量表，这是唯一一个区分轻微畸形和表型变体的量表。自1997年以来，我们的研究小组一直使用梅赫斯量表研究异常神经发育在不同神经精神和神经疾病中的作用。在我们开展研究的25年后，在这篇综述中，我们总结了我们关于不同疾病中MPA的18篇研究文章的结果。我们发现，精神分裂症、双相情感障碍、图雷特综合征、自闭症和许多癫痫综合征患者的MPA数量增加，尤其是在头部和口腔区域，这进一步证明了异常神经发育在这些疾病中的作用。此外，在精神分裂症和双相I型障碍患者的一级亲属中也检测到MPA数量增加，这支持了MPA作为内表型特征标志物的假说。
