title: Long-term neurological outcome in children with early-onset epilepsy associated with tuberous sclerosis.
abstract: In tuberous sclerosis complex, early seizure onset is associated with high risk of intractable epilepsy and cognitive/behavioral impairment. We retrospectively evaluated the long-term outcome of 44 infants presenting with seizures in the first 12 months who received vigabatrin, and were followed up for at least 3.5 years. At the final evaluation 55% of patients were still having seizures, 80% had intellectual disability, and 30% had autism. Sixty-five percent of children who had been treated earlier with vigabatrin after seizure onset achieved seizure freedom, compared with 24% of subjects who received vigabatrin treatment later (P<0.01). Intellectual disability was present in 61% of the children treated early (group A) and in 100% of the children treated later (group B). Nine percent of group A and 52% of group B had autism (P≈0.001). A shorter gap between seizure onset and start of treatment could reduce the risk of epileptic encephalopathy, minimizing the deleterious effect of seizures, but is not able to completely reverse the tuberous sclerosis complex-associated cognitive impairment.
authors.affiliation: Division of Neurology, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Raffaella
authors.initials: R
authors.lastname: Cusmai
authors.forename: Romina
authors.initials: R
authors.lastname: Moavero
authors.forename: Roberta
authors.initials: R
authors.lastname: Bombardieri
authors.forename: Federico
authors.initials: F
authors.lastname: Vigevano
authors.forename: Paolo
authors.initials: P
authors.lastname: Curatolo
mesh_terms: D000293:Adolescent; D000927:Anticonvulsants / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D003072:Cognition Disorders / Q000188:drug therapy / Q000209:etiology*; D002658:Developmental Disabilities / Q000188:drug therapy / Q000209:etiology*; D004569:Electroencephalography; D004827:Epilepsy / Q000150:complications* / Q000188:drug therapy / Q000209:etiology*; D005260:Female; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D011594:Psychometrics; D012189:Retrospective Studies; D012640:Seizures / Q000188:drug therapy / Q000209:etiology; D018709:Statistics, Nonparametric; D016896:Treatment Outcome; D014402:Tuberous Sclerosis / Q000150:complications*; D020888:Vigabatrin / Q000627:therapeutic use
chemical_list: D000927:Anticonvulsants; D020888:Vigabatrin