Abstrakt
We aimed to identify early predictors of pharmacoresistance, mental retardation and autistic spectrum disorder in pediatric patients diagnosed with cardiac rhabdomyomas in pre- and perinatal period. Clinical, neuropsychological, electrophysiological and neuroimaging data in a group of 22 patients with definite clinical diagnosis ofTSCwerefollowedprospectivelyaccordingtoastandardizedprotocol for patients with pre/perinatal diagnosis of CR developed in our centre.
EEG exams from period before the onset of epilepsy, at the time of epilepsy onset and at the end of follow-up period were reevaluated using a specific parametrical protocol. MR studies from period of incomplete and complete brain myelination were reviewed and searched for lesions associated with TSC, including defined features of focal cortical dysplasia.
Barnard's exact test and Kruskal-Wallace test of independence(atp < 0.05)wereusedforstatisticalevaluationofresults. Development of mental retardation was predicted by abnormal neurological exam, early seizure onset, intractability of seizures, higher total number of AEDs used, abnormal EEG background at the end of follow-up, and higher number of both tubers and areas with FCD-like features on MR.
Predictors of ASD included abnormal neurological exam, early developmental delay, first-line AED treatment failure; abnormal background, presence of spikes, and their higher frequency on EEG at the end of follow-up, as well as higher number of areas with FCD-like features on MR. Intractable epilepsy at the end of follow-up was predicted by mental retardation; a trend towards intractability in children with earlier seizure onset and higher number of tubers was observed.
Early initiation of antiepileptic treatment and prompt seizure control could improve mental outcome and decrease incidence of pervasive developmental disorders in TSC patients. We regard standardized protocol for management of patients with pre/perinatal diagnosis of cardiac rhabdomyomas.