Department of Neurology, University of Pécs, Rét u 2, Pécs, 7623, Hungary.
Department of Psychiatry and Psychotherapy, University of Pécs, Pécs, Hungary.
Sci Rep. 2022 Aug 12;12(1):13707. doi: 10.1038/s41598-022-17853-1.
Our aim was to investigate the rate and topological profile of minor physical anomalies (MPAs) in adult patients with epilepsy with the use of the Méhes Scale, a comprehensive modern scale of dysmorphology. Consecutive epilepsy patients admitted for outpatient evaluation were included. Patients with comorbidities of neurodevelopmental origin (such as autism, severe intellectual disability, attention deficit hyperactivity disorder, schizophrenia, tic disorder, Tourette syndrome, bipolar disorder, specific learning disorder and specific language impairment) were excluded. All participants underwent physical examination with the use of the Méhes Scale for evaluation of MPAs, including 57 minor signs. The frequency and topological profile of MPAs were correlated to clinical patient data using Kruskal-Wallis, chi2 tests and logistic regression model. 235 patients were included, according to the following subgroups: acquired epilepsy (non-genetic, non-developmental etiology) [N = 63], temporal lobe epilepsy with hippocampal sclerosis (TLE with HS) [N = 27], epilepsy with cortical dysgenesis etiology [N = 29], cryptogenic epilepsy [N = 69] and idiopathic generalized epilepsy (IGE) [N = 47]. As controls, 30 healthy adults were recruited. The frequency of MPAs were significantly affected by the type of epilepsy [H(6) = 90.17; p < 0.001]. Pairwise comparisons showed that all patient groups except for acquired epilepsy were associated with increased frequency of MPAs (p < 0.001 in all cases). Furrowed tongue and high arched palate were more common compared to controls in all epilepsy subgroup except for TLE (p < 0.001 or p = 0.001 in all cases). A positive association was detected between the occurrence of MPAs and antiepileptic drug therapy resistance [Exp(B) = 4.19; CI 95% 1.37-12.80; p = 0.012]. MPAs are more common in patients with epilepsy, which corroborates the emerging concept of epilepsy as a neurodevelopmental disorder. Assessment of these signs may contribute to the clarification of the underlying etiology. Moreover, as increased frequency of MPAs may indicate pharmacoresistance, the identification of patients with high number of MPAs could allow evaluation for non-pharmacological treatment in time.
我们的目的是使用梅赫斯量表（一种全面的现代畸形量表）调查成年癫痫患者的轻微身体异常（MPA）的发生率和拓扑结构。纳入连续接受门诊评估的癫痫患者。排除伴有神经发育起源合并症的患者（如自闭症、严重智力残疾、注意缺陷多动障碍、精神分裂症、抽搐障碍、妥瑞氏综合征、双相情感障碍、特定学习障碍和特定语言障碍）。所有参与者均接受体格检查，使用梅赫斯量表评估 MPA，包括 57 个小体征。使用 Kruskal-Wallis、卡方检验和逻辑回归模型将 MPA 的频率和拓扑结构与临床患者数据相关联。根据以下亚组纳入 235 名患者：获得性癫痫（非遗传性、非发育性病因）[N=63]、伴有海马硬化的颞叶癫痫（TLE 伴 HS）[N=27]、皮质发育不良性癫痫[N=29]、隐源性癫痫[N=69]和特发性全面性癫痫（IGE）[N=47]。作为对照，招募了 30 名健康成年人。MPA 的频率受癫痫类型的显著影响[H(6)=90.17;p<0.001]。两两比较显示，除获得性癫痫外，所有患者组均与 MPA 频率增加相关（在所有情况下，p<0.001）。除 TLE 外，所有癫痫亚组中，与对照组相比，沟纹舌和高拱形腭更为常见（在所有情况下，p<0.001 或 p=0.001）。检测到 MPA 的发生与抗癫痫药物治疗耐药之间存在正相关[Exp(B)=4.19;95%CI 1.37-12.80;p=0.012]。癫痫患者中 MPA 更为常见，这证实了癫痫是一种神经发育障碍的新兴概念。评估这些体征可能有助于阐明潜在病因。此外，由于 MPA 频率增加可能表明药物抵抗，因此识别具有大量 MPA 的患者可以及时评估非药物治疗。
