Abstracts

Rationale: Epilepsy in tuberous sclerosis complex (TSC) affects 70-80% of individuals, appearing mostly in the first months of life. Severe, drug-resistant epilepsy is the main risk factor of mental retardation in this population. Clinical epileptic seizures are preceded by deterioration of EEG recording thus enabling an opportunity for potential preventative treatment. In 2011 we showed that in a group of 14 TSC infants preclinical antiepileptic treatment reduced the risk of drug resistant epilepsy and  mental retardation  at the  age of 24 months (Józwiak et al, 2011). In this study we present long-term outcome of this cohort. Methods: A long-term, prospective study was performed in a group of 14 infants with early TSC diagnosis (“preventative”). Ten patients received antiepileptic treatment with vigabatrin when active epileptic discharges were detected on EEG. Age-matched control group (“standard”) consisted of 25 children with early TSC diagnosis in whom conservative treatment was introduced within 7 days after the onset of clinical seizures. In both groups last available data (between 7^th and 11^th year of life; median age- 9 years for preventative and 8 years for control group) concerning epilepsy and cognitive performance have been analysed. Results: On long-term follow-up, neurodevelopmental outcome of preventatively treated children was better than in those treated with conventional approach (mean IQ score was 85 in comparison to 57 in age-matched group on standard treatment, median 91 vs 51; p<0.05). Mental retardation was diagnosed in 3 patients in the preventative cohort presenting with epilepsy: mild in one and severe in two individuals. The remaining patients had normal IQ. In the standard group, 7 patients had normal IQ, 5 had mild, 7 - moderate, 3 - severe and 3 - profound mental retardation. In the preventative group the percentage of patients requiring polytherapy was lower (30% vs 72%, p<0.05). The chance of AED withdrawal (60%  in preventative group vs  4% in standard group; p<0.001) and normalization of EEG (40% vs. 0%; p<0.001) was higher on preventative treatment. Conclusions: This study provides first evidence that preventative antiepileptic treatment in TSC patients might long-lastingly improve prognosis regarding epilepsy and cognitive development. ReferenceJózwiak S, Kotulska K, Domanska-Pakiela D, Lojszczyk B, Syczewska M, Chmielewski D, Dunin-Wasowicz D, Kmiec T, Szymkiewicz-Dangel J, Kornacka M, Kawalec W, Kuczynski D, Borkowska J, Tomaszek K, Jurkiewicz E, Respondek-Liberska M. Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex. Eur J Paediatr Neurol. 2011 Sep;15(5):424-431. doi: 10.1016/j.ejpn.2011.03.010 Funding: The work was partly financed by the EC Seventh Framework Programme (FP7/2007-2013; EPISTOP, grant agreement no. 602391), the Polish Ministerial funds for science (years 2013-2019) for the implementation of international co-financed project and the grant EPIMARKER of the Polish National Center for Research and Development No. STRATEGMED3/306306/4/2016.