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癫痫发作起始年龄塑造局灶性皮质发育不良的神经认知概况。

Age at onset of epilepsy shapes neurocognitive profiles in focal cortical dysplasia.

作者信息

Potthoff Anna-Laura, Tennie Lukas, Witt Juri-Alexander, Rácz Attila, Borger Valeri, Vatter Hartmut, Becker Albert, Surges Rainer, Schneider Matthias, Helmstaedter Christoph

机构信息

Department of Neurosurgery, University Hospital Bonn, Venusberg Campus 1, 53127, Bonn, Germany.

Department of Epileptology, University Hospital Bonn, Venusberg Campus 1, 53127, Bonn, Germany.

出版信息

J Neurol. 2025 May 3;272(5):373. doi: 10.1007/s00415-025-13090-4.

DOI:10.1007/s00415-025-13090-4
PMID:40317327
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12049294/
Abstract

BACKGROUND

Focal cortical dysplasia (FCD) is a common developmental brain disorder frequently associated with refractory epilepsy and neurocognitive comorbidities. This study examines the neurocognitive profiles of patients with FCD, with particular attention to histopathological classification, age at onset of epilepsy (AOE), FCD lateralization and localization, and antiseizure medication (ASM) load.

METHODS

This study was conducted on 98 patients with FCD (type IIa: n = 26, type IIb: n = 59) who had undergone surgical treatment for epilepsy. Patients underwent comprehensive presurgical neuropsychological assessments for intelligence (IQ) and six cognitive domains.

RESULTS

Patients with FCD type IIb significantly more often exhibited an earlier AOE (< 6 years, 65.5% vs. 38.5%, p = 0.021) and a longer duration of epilepsy at the time of cognitive testing (mean ± SD, 18.8 ± 13.61 vs. 11.88 ± 9.09 years, p = 0.008) compared to patients with FCD type IIa. The most notable differences in cognitive performance were observed between patients with early (< 6 years) and late AOE (≥ 6 years) for IQ and motor functions. In these domains, patients with early AOE consistently scored lower (IQ: 2.24 ± 1.17 vs. 2.79 ± 0.83, p = 0.021, impaired patients: 36% vs.15.8%; motor function: 1.46 ± 1.05 vs. 2.25 ± 0.95, p = 0.002, impaired patients: 74.4% vs. 43.8%). Differences in cognitive performance were not linked to FCD type, lateralization, localization, or ASM load.

CONCLUSION

Our findings indicate that the AOE emerged as the determining factor for cognitive performance in refractory epilepsy patients due to FCD. As expected in cases of early childhood onset epilepsies, a neurodevelopmental disruption particularly of IQ and motor function was seen.

摘要

背景

局灶性皮质发育不良(FCD)是一种常见的发育性脑部疾病,常与难治性癫痫和神经认知合并症相关。本研究考察了FCD患者的神经认知概况,特别关注组织病理学分类、癫痫发作起始年龄(AOE)、FCD的侧别和定位以及抗癫痫药物(ASM)负荷。

方法

本研究对98例接受癫痫手术治疗的FCD患者(IIa型:n = 26,IIb型:n = 59)进行。患者接受了针对智力(IQ)和六个认知领域的全面术前神经心理学评估。

结果

与IIa型FCD患者相比,IIb型FCD患者更常出现较早的AOE(<6岁,65.5%对38.5%,p = 0.021),且在认知测试时癫痫发作持续时间更长(均值±标准差,18.8±13.61对11.88±9.09年,p = 0.008)。在IQ和运动功能方面,观察到癫痫发作起始早(<6岁)和晚(≥6岁)的患者在认知表现上存在最显著差异。在这些领域,癫痫发作起始早的患者得分始终较低(IQ:2.24±1.17对2.79±0.83,p = 0.021,受损患者:36%对15.8%;运动功能:1.46±1.05对2.25±0.95,p = 0.002,受损患者:74.4%对43.8%)。认知表现的差异与FCD类型、侧别、定位或ASM负荷无关。

结论

我们的研究结果表明,AOE是FCD所致难治性癫痫患者认知表现的决定因素。正如儿童期早期发作癫痫病例所预期的那样,出现了神经发育障碍,尤其是IQ和运动功能方面。

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本文引用的文献

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Deep histopathology genotype-phenotype analysis of focal cortical dysplasia type II differentiates between the GATOR1-altered autophagocytic subtype IIa and MTOR-altered migration deficient subtype IIb.深度组织病理学基因-表型分析对 II 型局灶性皮质发育不良进行分类,区分了 GATOR1 改变的自噬亚型 IIa 和 MTOR 改变的迁移缺陷亚型 IIb。
Acta Neuropathol Commun. 2023 Nov 9;11(1):179. doi: 10.1186/s40478-023-01675-x.
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Prevalence and Risk Factors for Pharmacoresistance in Children With Focal Cortical Dysplasia-Related Epilepsy.局灶性皮质发育不良相关癫痫患儿药物耐药的患病率和危险因素。
Neurology. 2022 Oct 31;99(18):e2006-e2013. doi: 10.1212/WNL.0000000000201033.
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The Pharmacoresistant Epilepsy: An Overview on Existent and New Emerging Therapies.
药物抵抗性癫痫:现有及新兴治疗方法概述
Front Neurol. 2021 Jun 22;12:674483. doi: 10.3389/fneur.2021.674483. eCollection 2021.
4
Does the accumulated antiepileptic drug load in chronic epilepsy reflect disease severity?慢性癫痫中累积的抗癫痫药物负荷是否反映疾病严重程度?
Epilepsia. 2020 Dec;61(12):2685-2695. doi: 10.1111/epi.16720. Epub 2020 Oct 15.
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Cognitive functioning after epilepsy surgery in children with mild malformation of cortical development and focal cortical dysplasia.儿童轻度皮质发育不良和局灶性皮质发育不良致癫癎手术后认知功能变化
Epilepsy Behav. 2019 May;94:209-215. doi: 10.1016/j.yebeh.2019.03.009. Epub 2019 Apr 8.
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Risk factors of cognitive impairment in pediatric epilepsy patients with focal cortical dysplasia.局灶性皮质发育不良的小儿癫痫患者认知障碍的危险因素
Brain Dev. 2019 Jan;41(1):77-84. doi: 10.1016/j.braindev.2018.07.014. Epub 2018 Jul 31.
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Focal cortical dysplasia: Molecular disturbances and clinicopathological classification (Review).局灶性皮质发育异常:分子紊乱与临床病理分类(综述)
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Surgical treatment of pediatric focal cortical dysplasia: Clinical spectrum and surgical outcome.小儿局灶性皮质发育不良的外科治疗:临床特征和手术结果。
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