Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.
MRI Unit, Epilepsy Society, Buckinghamshire, UK.
Epilepsia. 2023 Oct;64(10):2792-2805. doi: 10.1111/epi.17719. Epub 2023 Aug 10.
The cognitive profile of juvenile absence epilepsy (JAE) remains largely uncharacterized. This study aimed to: (1) elucidate the neuropsychological profile of JAE; (2) identify familial cognitive traits by investigating unaffected JAE siblings; (3) establish the clinical meaningfulness of JAE-associated cognitive traits; (4) determine whether cognitive traits across the idiopathic generalized epilepsy (IGE) spectrum are shared or syndrome-specific, by comparing JAE to juvenile myoclonic epilepsy (JME); and (5) identify relationships between cognitive abilities and clinical characteristics.
We investigated 123 participants-23 patients with JAE, 16 unaffected siblings of JAE patients, 45 healthy controls, and 39 patients with JME-who underwent a comprehensive neuropsychological test battery including measures within four cognitive domains: attention/psychomotor speed, language, memory, and executive function. We correlated clinical measures with cognitive performance data to decode effects of age at onset and duration of epilepsy.
Cognitive performance in individuals with JAE was reduced compared to controls across attention/psychomotor speed, language, and executive function domains; those with ongoing seizures additionally showed lower memory scores. Patients with JAE and their unaffected siblings had similar language impairment compared to controls. Individuals with JME had worse response inhibition than those with JAE. Across all patients, those with older age at onset had better attention/psychomotor speed performance.
JAE is associated with wide-ranging cognitive difficulties that encompass domains reliant on frontal lobe processing, including language, attention, and executive function. JAE siblings share impairment with patients on linguistic measures, indicative of a familial trait. Executive function subdomains may be differentially affected across the IGE spectrum. Cognitive abilities are detrimentally modulated by an early age at seizure onset.
青少年失神癫痫（JAE）的认知特征在很大程度上仍未被描述。本研究旨在：（1）阐明 JAE 的神经心理学特征；（2）通过调查未受影响的 JAE 兄弟姐妹来识别家族认知特征；（3）确定 JAE 相关认知特征的临床意义；（4）通过比较 JAE 与青少年肌阵挛性癫痫（JME）来确定特发性全面性癫痫（IGE）谱中的认知特征是否具有共性或综合征特异性；（5）确定认知能力与临床特征之间的关系。
我们调查了 123 名参与者-23 名 JAE 患者、16 名 JAE 患者的未受影响的兄弟姐妹、45 名健康对照者和 39 名 JME 患者-他们接受了全面的神经心理学测试，包括四个认知领域的测量：注意力/心理运动速度、语言、记忆和执行功能。我们将临床测量与认知表现数据相关联，以解码发病年龄和癫痫持续时间的影响。
与对照组相比，JAE 患者的认知表现在注意力/心理运动速度、语言和执行功能领域均有所下降；那些仍有发作的患者的记忆评分也较低。JAE 患者及其未受影响的兄弟姐妹与对照组相比，语言障碍相似。与 JAE 患者相比，JME 患者的反应抑制能力更差。在所有患者中，发病年龄较大的患者注意力/心理运动速度表现更好。
JAE 与广泛的认知困难相关，这些困难包括依赖额叶处理的领域，包括语言、注意力和执行功能。JAE 兄弟姐妹在语言测量方面与患者存在相似的障碍，提示存在家族特征。执行功能子领域可能在 IGE 谱中受到不同的影响。认知能力受到发病年龄较早的不利影响。
