Arenivas Ana, Ferguson Lisa, Lapin Brittany, Li Yadi, Blumcke Ingmar, Najm Imad, Busch Robyn M
Epilepsy Center and Neurological Institute, Cleveland Clinic, Cleveland, OH, USA; Department of Neurology, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA.
Department of Neurology, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA.
Epilepsy Behav. 2025 Mar;164:110279. doi: 10.1016/j.yebeh.2025.110279. Epub 2025 Feb 19.
Almost half of pharmacoresistant epilepsies in childhood and adolescence are caused by malformations of cortical development (MCDs), but little is known about the associated neuropsychological morbidities. This study comprehensively characterized presurgical neuropsychological functions in children and adolescents with pharmacoresistant epilepsy due to MCDs and examined their relationships to neuropathological substrate and other clinical variables.
Retrospective data were obtained from 137 children and adolescents (mean age = 13 years; 58 % male) who underwent resective surgery for treatment of epilepsy and had pathologically-confirmed MCDs. Neuropsychological domain composite scores and overall cognitive phenotype were examined. Logistic regressions identified demographic and disease variables associated with neuropsychological functioning.
Pathological diagnoses included focal cortical dysplasia (FCD, n = 69; 30 % FCD Type IIB, 20 % FCD Type IIA, 1 % FCD Type IA) and other MCDs (n = 68; 23 % mild MCD, 7 % polymicrogyria, 7 % tuberous sclerosis complex, 6 % complex MCD, 5 % mild MCD with oligodendroglial hyperplasia in epilepsy, 2 % periventricular nodular heterotopia). Performance was highly variable, ranging from superior to extremely low across cognitive domains. Impairment rates ranged from 40.1 % (visuospatial skills) to 70.8 % (fine motor skills). Of patients and parents/caregivers able to complete standardized inventories of mood and anxiety, approximately 20 % endorsed concerns for depression and anxiety. A large subset (29 %) demonstrated cognitive deficits limited to a single domain, with processing speed (24 %) and language (20 %) being the most commonly affected domains. Younger age at epilepsy onset and multilobar seizure locus were associated with lower cognitive performance across multiple domains. No significant differences in cognition existed between children and adolescents with focal cortical dysplasias and those with other MCDs.
Findings suggest the range of cognitive abilities in children and adolescents with MCDs is much broader than previously described, with over 20% demonstrating an intact cognitive phenotype. Despite high prevalence of cognitive impairment in this cohort, significant variability existed at the individual level that was not fully accounted for by demographic and clinical variables. Results highlight the importance of neuropsychological evaluation and routine emotional/behavioral screening in pediatric epilepsy caused by MCDs.
儿童和青少年中几乎一半的药物难治性癫痫是由皮质发育畸形（MCDs）引起的，但对其相关的神经心理疾病知之甚少。本研究全面描述了因MCDs导致药物难治性癫痫的儿童和青少年术前的神经心理功能，并研究了它们与神经病理底物及其他临床变量之间的关系。
回顾性收集了137例儿童和青少年（平均年龄 = 13岁；58%为男性）的数据，这些患者因癫痫接受了切除性手术，且病理证实患有MCDs。对神经心理领域综合评分和整体认知表型进行了检查。逻辑回归分析确定了与神经心理功能相关的人口统计学和疾病变量。
病理诊断包括局灶性皮质发育不良（FCD，n = 69；30%为IIB型FCD，20%为IIA型FCD，1%为IA型FCD）和其他MCDs（n = 68；23%为轻度MCD，7%为多小脑回，7%为结节性硬化症，6%为复杂性MCD，5%为癫痫伴少突胶质细胞增生的轻度MCD，2%为室管膜下结节性异位）。表现差异很大，各认知领域的表现从优秀到极低不等。受损率从40.1%（视觉空间技能）到70.8%（精细运动技能）不等。在能够完成情绪和焦虑标准化量表的患者及父母/照顾者中，约20%表示有抑郁和焦虑问题。很大一部分（29%）表现出仅局限于单一领域的认知缺陷，其中加工速度（24%）和语言（20%）是最常受影响的领域。癫痫发作起始年龄较小和多叶癫痫发作部位与多个领域的较低认知表现相关。局灶性皮质发育不良的儿童和青少年与其他MCDs的儿童和青少年在认知方面无显著差异。
研究结果表明，患有MCDs的儿童和青少年的认知能力范围比先前描述的要广泛得多，超过20%表现出完整的认知表型。尽管该队列中认知障碍的患病率很高，但个体水平上存在显著差异，人口统计学和临床变量并不能完全解释这些差异。结果强调了在由MCDs引起的小儿癫痫中进行神经心理评估和常规情绪/行为筛查的重要性。
