RESUMO
OBJECTIVES: To determine whether certain characteristic electroencephalography (EEG) features are indicative of a genetic cause in early-life epilepsy. STUDY DESIGN: We enrolled a total of 100 patients with infantile-onset (<3 years) epilepsy due to known genetic cause (n = 50) and nongenetic cause (acquired, structural, or unknown, n = 50). The genetic group was classified into synaptopathies, channelopathies, mTOR (mammalian target of rapamycin)-opathies, and chromosomal abnormalities. The nongenetic group included epilepsy of unknown cause and structural abnormalities such as brain tumor, focal cortical dysplasia and encephalomalacia. The clinical features, magnetic resonance imaging, and video EEG obtained before 3 years of age and again at follow-up were reviewed. Specifically, the background rhythms and patterns of interictal epileptiform discharges were analyzed to define the EEG characteristics. RESULTS: The genetic group was more likely to have seizure recurrence beyond infancy and significant developmental delay (P <.01). The genetic and nongenetic groups showed different EEG patterns in the initial EEGs that persisted in follow-up EEGs. Diffuse slowing with pleomorphic focal/multifocal epileptiform discharges were present more often in the genetic (86%) compared with the nongenetic group (20%) in the initial EEGs (P <.01). The last available follow-up EEG features were similar (81% in genetic versus 17% in nongenetic) to the EEG performed prior to 3 years of age. CONCLUSIONS: Our findings suggest a simple guide for genetic screening in children with early-onset epilepsy. Genetic testing may be indicated and useful in infants with delayed development, no obvious cause, and significant EEG background slowing with pleomorphic focal or multifocal epileptiform discharges.
Assuntos
Eletroencefalografia , Epilepsia/diagnóstico por imagem , Epilepsia/genética , Mutação , Feminino , Humanos , Lactente , Masculino , Estudos RetrospectivosRESUMO
OBJECTIVE: Infantile spasms are seizures associated with a severe epileptic encephalopathy presenting in the first 2 years of life, and optimal treatment continues to be debated. This study evaluates early and sustained response to initial treatments and addresses both clinical remission and electrographic resolution of hypsarrhythmia. Secondarily, it assesses whether response to treatment differs by etiology or developmental status. METHODS: The National Infantile Spasms Consortium established a multicenter, prospective database enrolling infants with new diagnosis of infantile spasms. Children were considered responders if there was clinical remission and resolution of hypsarrhythmia that was sustained at 3 months after first treatment initiation. Standard treatments of adrenocorticotropic hormone (ACTH), oral corticosteroids, and vigabatrin were considered individually, and all other nonstandard therapies were analyzed collectively. Developmental status and etiology were assessed. We compared response rates by treatment group using chi-square tests and multivariate logistic regression models. RESULTS: Two hundred thirty infants were enrolled from 22 centers. Overall, 46% of children receiving standard therapy responded, compared to only 9% who responded to nonstandard therapy (p < 0.001). Fifty-five percent of infants receiving ACTH as initial treatment responded, compared to 39% for oral corticosteroids, 36% for vigabatrin, and 9% for other (p < 0.001). Neither etiology nor development significantly modified the response pattern by treatment group. INTERPRETATION: Response rate varies by treatment choice. Standard therapies should be considered as initial treatment for infantile spasms, including those with impaired development or known structural or genetic/metabolic etiology. ACTH appeared to be more effective than other standard therapies.