Social cognition in Juvenile Myoclonic Epilepsy

Giorgi, Filippo Sean; Guida, Melania; Caciagli, Lorenzo; Pagni, Cristina; Pizzanelli, Chiara; Bonanni, Enrica; Tognoni, Gloria; Bonuccelli, Ubaldo

doi:10.1016/j.eplepsyres.2016.10.017

Cited by 36 publications

(21 citation statements)

References 70 publications

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“…4 Moreover, our findings dovetail with functional imaging, demonstrating abnormal connectivity between motor and fronto-parietal cognitive networks in patients with JME and their siblings. 31,34 The predominant topography of morphologic anomalies in prefrontal cortices and their abnormal structural network integration with limbic, fronto-parietal, and dorsal attention likely explains the cognitive impairments reported in patients with JME [34][35][36] and, to a lesser extent, their siblings, 5,34 and are possibly related to altered developmental trajectories. 37 Indeed, these regions are critical hubs for higher-order processes, including working and prospective memory, 38 emotional processing, 39 impulsivity, and risk-taking behavior.…”

Section: Discussionmentioning

confidence: 99%

Developmental MRI markers cosegregate juvenile patients with myoclonic epilepsy and their healthy siblings

Wandschneider¹,

Hong²,

Bernhardt³

et al. 2019

Neurology

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Objective MRI studies of genetic generalized epilepsies have mainly described group-level changes between patients and healthy controls. To determine the endophenotypic potential of structural MRI in juvenile myoclonic epilepsy (JME), we examined MRI-based cortical morphologic markers in patients and their healthy siblings. MethodsIn this prospective, cross-sectional study, we obtained 3T MRI in patients with JME, siblings, and controls. We mapped sulco-gyral complexity and surface area, morphologic markers of brain development, and cortical thickness. Furthermore, we calculated mean geodesic distance, a surrogate marker of cortico-cortical connectivity. ResultsCompared to controls, patients and siblings showed increased folding complexity and surface area in prefrontal and cingulate cortices. In these regions, they also displayed abnormally increased geodesic distance, suggesting network isolation and decreased efficiency, with strongest effects for limbic, fronto-parietal, and dorsal-attention networks. In areas of findings overlap, we observed strong patient-sibling correlations. Conversely, neocortical thinning was present in patients only and related to disease duration. Patients showed subtle impairment in mental flexibility, a frontal lobe function test, as well as deficits in naming and design learning. Siblings' performance fell between patients and controls. ConclusionMRI markers of brain development and connectivity are likely heritable and may thus serve as endophenotypes. The topography of morphologic anomalies and their abnormal structural network integration likely explains cognitive impairments in patients with JME and their siblings. By contrast, cortical atrophy likely represents a marker of disease.Glossary ANOVA = analysis of variance; JME = juvenile myoclonic epilepsy.

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Section: Discussionmentioning

confidence: 99%

Developmental MRI markers cosegregate juvenile patients with myoclonic epilepsy and their healthy siblings

Wandschneider¹,

Hong²,

Bernhardt³

et al. 2019

Neurology

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“…Most studies into working memory in JME reported some degree of impairment (90,95,99,101). Other groups have examined dimension-specific performance, with some finding evidence for visuospatial impairment (51,85,86,94,101), and others documenting deficits in verbal working memory 97: *, shift toward more advantageous choices (i.e., task-associated learning) was impaired in JME patients with ongoing seizures, but not in those who were seizure-free. In the "AED Status" column, "Mixed" is given for studies where AED use was not restricted to a single regimen (i.e., monotherapy, polytherapy, or drug-naïve).…”

Section: Cognition In Patients With Juvenile Myoclonic Epilepsymentioning

confidence: 99%

“…In the "AED Status" column, "Mixed" is given for studies where AED use was not restricted to a single regimen (i.e., monotherapy, polytherapy, or drug-naïve). (52,89,101). While only few reports documented normal functioning (93,100), whether working memory weaknesses may be more prominent in the verbal than non-verbal domain remains unclear.…”

Section: Cognition In Patients With Juvenile Myoclonic Epilepsymentioning

confidence: 99%

Cognitive Function in Genetic Generalized Epilepsies: Insights From Neuropsychology and Neuroimaging

et al. 2020

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Genetic generalized epilepsies (GGE), previously called idiopathic generalized epilepsies, constitute about 20% of all epilepsies, and include childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, and epilepsy with generalized tonic-clonic seizures alone (CAE, JAE, JME, and GGE-GTCS, respectively). GGE are characterized by high heritability, likely underlain by polygenetic mechanisms, which may relate to atypical neurodevelopmental trajectories. Age of onset ranges from preschool years, for CAE, to early adulthood for GGE-GTCS. Traditionally, GGE have been considered benign, a belief contrary to evidence from neuropsychology studies conducted over the last two decades. In JME, deficits in executive and social functioning are common findings and relate to impaired frontal lobe function. Studies using neuropsychological measures and cognitive imaging paradigms provide evidence for hyperconnectivity between prefrontal and motor cortices, aberrant fronto-thalamo-cortical connectivity, and reduced fronto-cortical and subcortical gray matter volumes, which are associated with altered cognitive performance. Recent research has also identified associations between abnormal hippocampal morphometry and fronto-temporal activation during episodic memory. Longitudinal studies on individuals with newly diagnosed JME have observed cortical dysmaturation, which is paralleled by delayed cognitive development compared to the patients' peers. Comorbidities and cognitive deficits observed in other GGE subtypes, such as visuo-spatial and language deficits in both CAE and JAE, have also been correlated with atypical neurodevelopment. Although it remains unclear whether cognitive impairment profiles differ amongst GGE subtypes, effects may become more pronounced with disease duration, particularly in absence epilepsies. Finally, there is substantial evidence that patients with JME and their unaffected siblings share patterns of cognitive deficits, which is indicative of an underlying genetic etiology (endophenotype), independent of seizures and anti-epileptic medication.

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“…JME is a socially significant disease with poor long-term social outcome after 25 years, including depression, social isolation, and underemployment. (20)(21)(22) Such young patients usually have difficulties with socialization, and sometimes even demonstrate agoraphobic disorders. The debut of the disease is often accompanied by a negative attitude and unwillingness to follow the doctor's recommendations.…”

Section: The Epilepsy Itselfmentioning

confidence: 99%

Advances in the Management of Sleep Disorders in Juvenile Myoclonic Epilepsy

Moskaleva¹,

Шилкина²,

Shnayder³

et al. 2018

IJBM

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Juvenile myoclonic epilepsy (JME) is a well-defined sub-syndrome of idiopathic generalized/genetic epilepsy, usually presenting in adolescence and characterized by myoclonic jerks, predominately in the arms, associated with tonic-clonic seizures and less often generalized absences. Although the evidence base for a relationship between JME and sleep disorders is weak, most experts regard sleep disorders as an actual comorbidity. This paper reviews the literature underpinning the development of sleep disorders in JME patients. Data that report associated causes of sleep problems in JME patients are discussed, as is the importance of counseling on lifestyle issues. Lastly, a practical approach to managing sleep disorders in young men and women with JME is summarized. (International Journal of Biomedicine. 2018;8(2):108-114.)

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Social cognition in Juvenile Myoclonic Epilepsy

Cited by 36 publications

References 70 publications

Developmental MRI markers cosegregate juvenile patients with myoclonic epilepsy and their healthy siblings

Developmental MRI markers cosegregate juvenile patients with myoclonic epilepsy and their healthy siblings

Cognitive Function in Genetic Generalized Epilepsies: Insights From Neuropsychology and Neuroimaging

Advances in the Management of Sleep Disorders in Juvenile Myoclonic Epilepsy

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