Caciagli, Lorenzo; Ratcliffe, Corey; Xiao, Fenglai; van Graan, Louis A; Trimmel, Karin; Vollmar, Christian; Centeno, Maria; Duncan, John S; Thompson, Pamela J; Baxendale, Sallie; Koepp, Matthias J; Wandschneider, Britta (2023). The cognitive phenotype of juvenile absence epilepsy: An investigation of patients and unaffected siblings. Epilepsia, 64(10), pp. 2792-2805. Wiley-Blackwell 10.1111/epi.17719
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Epilepsia_-_2023_-_Caciagli_-_The_cognitive_phenotype_of_juvenile_absence_epilepsy_An_investigation_of_patients_and.pdf - Accepted Version Available under License Publisher holds Copyright. Download (951kB) | Preview |
OBJECTIVE
The cognitive profile of juvenile absence epilepsy (JAE) remains largely uncharacterized. This study aimed to: (i) elucidate the neuropsychological profile of JAE; (ii) identify familial cognitive traits, by investigating unaffected JAE siblings; (iii) establish the clinical meaningfulness of JAE-associated cognitive traits; (iv) 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 (v) identify relationships between cognitive abilities and clinical characteristics.
METHODS
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.
RESULTS
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.
SIGNIFICANCE
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.
Item Type: |
Journal Article (Original Article) |
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Division/Institute: |
04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Neurology |
UniBE Contributor: |
Caciagli, Lorenzo |
Subjects: |
600 Technology > 610 Medicine & health |
ISSN: |
0013-9580 |
Publisher: |
Wiley-Blackwell |
Language: |
English |
Submitter: |
Pubmed Import |
Date Deposited: |
24 Jul 2023 12:12 |
Last Modified: |
22 Jul 2024 00:25 |
Publisher DOI: |
10.1111/epi.17719 |
PubMed ID: |
37475704 |
BORIS DOI: |
10.48350/184991 |
URI: |
https://boris.unibe.ch/id/eprint/184991 |
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