RESUMO
Self-induced seizures were first described in 1827. A majority of authors found that in unselected patients with epilepsy, the prevalence rate of these seizures was 1%. In patients with photosensitive epilepsy, there was roughly a 25% prevalence. Apart from visual stimulation, many other mechanisms of self-induction have been described. A feeling of pleasure or relaxation during seizures may be a reason for self-inductive behaviour. But often the procedure of self-induction is experienced as involuntary. Treatment is always difficult. Behavioral therapy has been proven effective in some patients. In patients with photosensitive epilepsy, sunglasses are recommended. Fenfluramine, clonazepam and valproate seem to be a bit more effective than other drugs. After all, the treatment effect depends on the motivation of the patient to change the condition.
Assuntos
Epilepsia Reflexa , Epilepsia Reflexa/tratamento farmacológico , Epilepsia Reflexa/epidemiologia , Humanos , Estimulação Luminosa/efeitos adversos , Prevalência , Convulsões/tratamento farmacológico , Convulsões/epidemiologiaRESUMO
Reports on social cognition in patients with developmental amnesia resulting from bilateral hippocampal lesions are rare, although the link between social cognition and temporal lobe structures is well established. We present the case of a 23-year-old male epilepsy patient, BM, with developmental amnesia due to perinatal cerebral hypoxia. The patient was examined with neuroimaging and neuropsychological methods and compared to IQ-matched patients with epilepsy to control for effects of epilepsy. In addition, we used a test battery that evaluates emotion recognition and theory of mind to study his social cognition abilities. Structural high-resolution magnetic resonance imaging showed bilateral hippocampal atrophy. The comparison to controls showed that, in addition to the well-documented memory disorders in developmental amnesia, BM showed remarkable deficits in 9 out of 17 social cognitive tasks assessing emotion recognition and theory of mind. In contrast, BM's performance on tasks of executive functions was largely preserved. The relevance of deficits in social cognition for patients with developmental amnesia is discussed.
Assuntos
Amnésia , Disfunção Cognitiva , Epilepsia , Hipocampo/patologia , Hipóxia/complicações , Doenças do Recém-Nascido , Cognição Social , Adulto , Amnésia/diagnóstico , Amnésia/etiologia , Amnésia/patologia , Amnésia/fisiopatologia , Atrofia , Disfunção Cognitiva/diagnóstico , Disfunção Cognitiva/etiologia , Disfunção Cognitiva/patologia , Disfunção Cognitiva/fisiopatologia , Epilepsia/diagnóstico , Epilepsia/etiologia , Epilepsia/patologia , Epilepsia/fisiopatologia , Feminino , Hipocampo/diagnóstico por imagem , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Gravidez , Gravidez de Gêmeos , Adulto JovemRESUMO
Background: We present a case of a 46-year-old man with Lennox-Gastaut syndrome and drug-resistant epilepsy. An adjunctive neurostimulation therapy strategy was implemented involving bilateral deep brain stimulation (DBS) of the centromedian thalamic nucleus (CMT). Methods: Robotically assisted implantation of bilateral DBS directional lead system with 8 contacts in the CMT was performed. The clinical course was assessed in repeated in-patient follow-ups. Results: Initial DBS stimulation resulted in progressive ataxia and dysarthria significantly beyond the level seen before surgery. Deactivation of DBS coincided with improvement of dysarthria. A DBS stimulation paradigm with reduction of lateral and superior stimulation resulted in improvement and eventually complete resolution of the stimulation side effect. Discussion: This case suggests that stimulation-induced dysarthria in DBS can be improved by targeted reduction of lateral and/or superior thalamic stimulation. When dysarthria and ataxia occur during DBS, directed stimulation to medial thalamic structures and more inferior electrode contacts offers a promising strategy to reduce side effects while maintaining positive effects.
RESUMO
Knowledge of underlying genetic causes of developmental and epileptic encephalopathies (DEE) in adults is still limited when compared to the routine diagnostic approach in similarly affected children. A well-documented longitudinal study of adults with DEE is of utmost importance to understand the natural history of the respective entity. This information is of great value especially for genetic counselling of newly diagnosed children with identical genetic diagnoses and may impact treatment and management of affected individuals. In our meta-analysis we provide an overview of the most recurrent genetic findings across an adult DEE cohort (n=1,020). The gene mostly associated with a pathogenic or likely pathogenic variant in adult DEE is SCN1A, followed by MECP2 and CHD2. Studies employing exome sequencing and calling of both single nucleotide variants and copy number variants are associated with diagnostic yields of almost 50 %. Finally, we highlight three remarkable cases, each representing the oldest individual ever published with their genetic diagnosis, i. e., Angelman syndrome, Miller-Dieker syndrome, and CAMK2A-related disorder, and describe lessons learned from each of these adults.
RESUMO
This study aimed to examine whether the cortical processing of emotional faces is modulated by the computerization of face stimuli ("avatars") in a group of 25 healthy participants. Subjects were passively viewing 128 static and dynamic facial expressions of female and male actors and their respective avatars in neutral or fearful conditions. Event-related potentials (ERPs), as well as alpha and theta event-related synchronization and desynchronization (ERD/ERS), were derived from the EEG that was recorded during the task. All ERP features, except for the very early N100, differed in their response to avatar and actor faces. Whereas the N170 showed differences only for the neutral avatar condition, later potentials (N300 and LPP) differed in both emotional conditions (neutral and fear) and the presented agents (actor and avatar). In addition, we found that the avatar faces elicited significantly stronger reactions than the actor face for theta and alpha oscillations. Especially theta EEG frequencies responded specifically to visual emotional stimulation and were revealed to be sensitive to the emotional content of the face, whereas alpha frequency was modulated by all the stimulus types. We can conclude that the computerized avatar faces affect both, ERP components and ERD/ERS and evoke neural effects that are different from the ones elicited by real faces. This was true, although the avatars were replicas of the human faces and contained similar characteristics in their expression.
RESUMO
Computer-generated characters, so-called avatars, are widely used in advertising, entertainment, human-computer interaction or as research tools to investigate human emotion perception. However, brain responses to avatar and human faces have scarcely been studied to date. As such, it remains unclear whether dynamic facial expressions of avatars evoke different brain responses than dynamic facial expressions of humans. In this study, we designed anthropomorphic avatars animated with motion tracking and tested whether the human brain processes fearful and neutral expressions in human and avatar faces differently. Our fMRI results showed that fearful human expressions evoked stronger responses than fearful avatar expressions in the ventral anterior and posterior cingulate gyrus, the anterior insula, the anterior and posterior superior temporal sulcus, and the inferior frontal gyrus. Fearful expressions in human and avatar faces evoked similar responses in the amygdala. We did not find different responses to neutral human and avatar expressions. Our results highlight differences, but also similarities in the processing of fearful human expressions and fearful avatar expressions even if they are designed to be highly anthropomorphic and animated with motion tracking. This has important consequences for research using dynamic avatars, especially when processes are investigated that involve cortical and subcortical regions.