Epilepsia mioclônica juvenil: perfil cognitivo de pacientes com diferentes endofenótipos

• Ano de defesa: 2016
• Autor(a) principal: Carvalho, Kelly Cristina de [UNIFESP]
• Tipo de documento: Dissertação
• Tipo de acesso: Acesso aberto
• Idioma: por
• Instituição de defesa: Universidade Federal de São Paulo (UNIFESP)
• Palavras-chave em Português: Juvenile myoclonic epilepsy; Reflex epileptic traits; Executive dysfunction; Epilepsia mioclônica juvenil; Avaliação neuropsicológica; Endofenótipos
• Link de acesso: https://sucupira.capes.gov.br/sucupira/public/consultas/coleta/trabalhoConclusao/viewTrabalhoConclusao.jsf?popup=true&id_trabalho=4318465; http://repositorio.unifesp.br/handle/11600/47116

Purpose: Juvenile myoclonic epilepsy (JME) is a heterogeneous epileptic syndrome with seizures that are precipitated not only by general factors such as sleep deprivation and stress but also by praxis induction and language, eye-closure and photosensitivity. The aim of this study was to investigate whether the endophenotypes of JME influence on cognitive performance. Methods: Neuropsychological assessment of 61 patients with JME, being 20 patients with only general precipitating factors (group 1); 13 patients with praxis induction/language (group 2); 17 patients with eye-closure and photosensitivity (group 3) and 11 patients with the combination of reflex traits (group 4) was compared to 60 healthy controls (group 5). Neuropsychological performance was controlled by clinical variables: age of onset of epilepsy, frequency of myoclonic seizures and daily dose of total antiepileptic drugs (AED) and AEDs with sedative potential. Results: Group 1 patients had higher schooling (p=0.020). Male gender prevailed in group 2 (praxis induction) (p=0.018). In groups of patients with reflex traits there was persistence of myoclonic seizures on a daily frequency; sodium valproate in polytherapy was the most common prescription in all groups of patients and there was a higher use of clonazepam in group 2, as well as increased presence of psychiatric comorbidities. Group 4 patients had worse performance in the Trail Making Test part B when compared to those of groups 1 and 2 (p= 0.002 and 0= 0.009 for the total daily dose of medication, respectively). When controlling by daily doses of sedative AEDs, patients of group 4 had inferior performance than those of groups 1 and 2 (p 0=0.003 and 0=0.013, respectively). These results were independent of AEDs use per day, age of epilepsy onset or seizure control. Conclusion: In patients with JME the higher the expression of reflex traits, the greater the degree of executive dysfunction.