Csulak Tímea, Csábi Györgyi, Herold Róbert, Vörös Viktor, Jeges Sára, Hajnal András, Kovács Márton Áron, Simon Maria, Herold Márton, Tóth Ákos Levente, Tényi Tamás
Department of Psychiatry and Psychotherapy, Medical School, University of Pécs, Pécs, Hungary.
Department of Pediatrics, Medical School, University of Pécs, Pécs, Hungary.
Front Psychiatry. 2021 Apr 29;12:672241. doi: 10.3389/fpsyt.2021.672241. eCollection 2021.
Minor physical anomalies are somatic markers of aberrant neurodevelopment, so the higher prevalence of these signs among the relatives of bipolar I patients can confirm minor physical anomalies as endophenotypes. The aim of the study was to evaluate the prevalence of minor physical anomalies in first-degree healthy relatives of patients with bipolar I disorder compared to normal control subjects. Using a list of 57 minor physical anomalies (the Méhes Scale), 20 first-degree unaffected relatives of patients with the diagnosis of bipolar I disorder and as a comparison 20 matched normal control subjects were examined. Minor physical anomalies were more common in the ear, head, mouth and trunk regions among the relatives of bipolar I patients compared to normal controls. By the differentiation of minor malformations and phenogenetic variants, we have found that both minor malformations and phenogenetic variants were more common among the relatives of bipolar I patients compared to the control group, while individual analyses showed, that one minor malformation (sole crease) and one phenogenetic variant (high arched palate) were more prevalent in the relative group. This is the first report in literature on the increased prevalence of minor physical anomalies among the first-degree unaffected relatives of bipolar I patients. The study support the concept, that minor physical anomalies can be endophenotypic markers of bipolar I affective disorder.
轻微身体异常是神经发育异常的躯体标记,因此双相I型障碍患者亲属中这些体征的较高患病率可证实轻微身体异常为内表型。本研究的目的是评估双相I型障碍患者的一级健康亲属与正常对照者相比,轻微身体异常的患病率。使用一份包含57种轻微身体异常的清单(梅赫斯量表),对20名诊断为双相I型障碍患者的一级未患病亲属以及作为对照的20名匹配的正常对照者进行了检查。与正常对照相比,双相I型障碍患者亲属的耳朵、头部、口腔和躯干区域的轻微身体异常更为常见。通过区分轻微畸形和表型遗传变异,我们发现双相I型障碍患者亲属中的轻微畸形和表型遗传变异均比对照组更为常见,而个体分析显示,一种轻微畸形(足底褶痕)和一种表型遗传变异(高拱腭)在亲属组中更为普遍。这是文献中关于双相I型障碍患者一级未患病亲属中轻微身体异常患病率增加的首次报告。该研究支持了这样一种概念,即轻微身体异常可能是双相I型情感障碍的内表型标记。