29.12.2020 change 29.12.2020

Polish prof investigates epilepsy development in infants with tuberous sclerosis

Photo: press materials Photo: press materials

Prophylactic antiepileptic treatment of infants with tuberous sclerosis significantly reduces the risk of epilepsy, as well as its severity and the risk of drug resistance, an international study has shown.

Coordinated by Professor Sergiusz Jóźwiak, head of Department of Child Neurology at the Medical University of Warsaw, the EPISTOP study carried out in 16 centres in Europe, the US and Australia, investigated the mechanisms of epilepsy development before the onset of seizures. The research work was 
Professor Jóźwiak said: “We now know that epileptic seizures are the end result of a long-term process called epileptogenesis, which involves molecular and structural changes in the brain leading to epilepsy. According to the current epilepsy management standards, treatment begins as soon as seizures occur. Unfortunately, in young children, the longer the time between the first seizures and the initiation of treatment, the greater the risk of drug-resistant epilepsy and developmental disorders.”
In the EPISTOP project, researchers examined infants up to 4 months of age with tuberous sclerosis, who had not yet experienced epileptic seizures. In total, 101 children were enrolled in the project in all clinical centres in Europe and Australia. Each child was examined until the age of two. Each subject had an EEG test every 4 weeks initially and then every 6 weeks to detect pre-seizure discharges.
The results of the study show that prophylactic anti-epileptic treatment significantly reduces the risk of epilepsy, as well as its severity and the risk of drug resistance. At the same time, it completely prevents the occurrence of the so-called West syndrome (spasms). In the entire EPISTOP study, no severe forms of developmental delay were observed in any child.
Patients participating in the study published in 2011 reached school age during the EPISTOP project. 
Jóźwiak said: "Their long-term follow-ups showed that patients who had received prophylactic treatment were mostly seizure free. In half of the children, treatment could be discontinued, and the development of 80 percent of them was perfectly normal, they could go to school together with healthy peers. This is a huge change compared to the post-seizure treatment group, of which only 20 percent children develop properly at school age, and most children have developmental delay and autistic features.”
The EPISTOP project was the first to undertake comprehensive research aimed at detecting the mechanisms of epilepsy and its adverse impact on the development of children.
A university press release said: “EPISTOP uses a wide range of tests, from the most basic clinical assessments, the analysis of electrical signals from the brain (EEG), magnetic resonance images, to advanced molecular methods of gene, RNA and protein studies. It is also extremely important that some mechanisms of epilepsy development seen in tuberous sclerosis may explain the development of seizures not only in this disease but in many other types of epilepsy.”
Although the EPISTOP project formally ended in 2019, work on this part of the project continues.
The project was the largest medical study financed by the EU's 7th Framework Program and coordinated by a Polish centre (Children's Memorial Health Institute - IPCZD). It was at IPCZD in 2006 that Professor Sergiusz Jóźwiak started pilot research on anti-epileptic treatment of children who had not yet developed epilepsy. 
The research is published in Neurology https://onlinelibrary.wiley.com/doi/10.1002/ana.25956.
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