Neurocognitive profile in patients with idiopathic generalized epilepsies: Differences between patients, their biological siblings, and healthy controls

Abstract

BackgroundIdiopathic generalized epilepsy (IGE) is one of the most common epilepsies and is believed to have a strong genetic origin. Patients with IGE present largely heterogeneous neurocognitive profiles and might show some neurocognitive impairments. Furthermore, IGE siblings may demonstrate worse results in neuropsychological tests as well. In our study, we aimed to map the neurocognitive profile both in patients with IGE and the siblings. We also sought to establish a neurocognitive profile for each IGE syndrome. MethodsThe research sample included 110 subjects (IGE n = 46, biological siblings BS n = 16, and healthy controls n = 48) examined. Subjects were neuropsychologically examined in domains of intelligence, attention, memory, executive, and motor functions. The data obtained from the examination were statistically processed to determine whether and how IGE patients (including distinct syndromes) and the siblings differed neurocognitively from healthy controls (adjusted z–scores by age, education, and gender, and composite z-scores of cognitive domains). Data on anti-seizure medication, including defined daily doses, were obtained and included in the analysis. ResultsIGE patients and their biological siblings performed significantly worse in most of the neuropsychological tests than healthy controls. The neurocognitive profile of composite z-scores showed that IGE and biological siblings had equally significantly impaired performance in executive functions. IGE group also demonstrated impaired composite attention and motor function scores. The profile of individual IGE syndromes showed that JAE, JME, and EGTCS had significantly worse performance in composite execution score and motor function score. JAE presented significantly worse performance in intelligence and attention. JME exhibited significantly worse composite score in the attention domain. Anti-seizure medication, depression, and quality of life were unrelated to cognitive performance in IGE group. The level of depression significantly predicted the overall value of quality of life in patients with IGE, while cognitive domains, sociodemographic, and clinical factors were unrelated. ConclusionOur study highlights the importance to consider the neurocognitive profile of IGE patients that can lead to difficulties in their education, acceptance, and management of coping strategies. Cognitive difficulties of IGE siblings could support a hypothesis that these impairments emerge from heritable traits.