tuscany region-funded project DECODE-EE aims at improving treatment of epileptic encephalopathies and children’s quality of life in partnership with researchers of Sant’Anna school TeCIP institute and Meyer children’s hospital florence

Childhood epileptic encephalopathies are age-dependent disorders of the brain. The international classification identified three entities of developmental encephalopathy, epileptic encephalopathy, and developmental and epileptic encephalopathy (DEE). Many biological pathways could be involved in the pathogenesis of DEEs. Epilepsy and epileptiform discharges might impact on cognition via several mechanisms although they are not fully understood, and gold standard evidence for treatment of epileptic encephalopathies remains limited. Treatments aim to control seizures, but also to prevent neurologic loss of function as well as evaluate the neurologic sequelae in the pediatric cancer population. In general, there remains a relative paucity of literature concerning the DEEs, therefore, it is important to initiate treatment quickly and reduce pain also to prevent further progression and possibly, permanent deficits.

Sant’Anna School and Meyer Children’s Hospital clinical and basic research may lead to better understanding of loss of neurologic functions and to more effective therapies. The project "DECODE-EE" will examine 1,200 pediatric patients of hospitals Azienda Ospedaliero Universitaria Meyer, Fondazione Stella Maris and Azienda Ospedaliero Universitaria Senese. The project "DECODE-EE" has received funding from the Tuscany Region under the research program “Bando Ricerca Salute 2018”.

Sant’Anna School TeCIP Institute and Fondazione Toscana Gabriele Monasterio researchers have partnered with the Meyer Children’s Hospital Florence to build a Tuscany Region DEEs patient registry and explore options for developing a national registry. Patient registries will be relevant to the needs of hospitals in Tuscany, and other national care programs. By engaging in the "DECODE-EE "partnership researchers of the TECIP Institute InReTe Lab. who focus on integrated photonic circuits, digital photonics and microwave photonics, telecommunications infrastructures, optical networks, on-chip interconnection networks, transport network support for 5G systems, communication network and industrial network protocol under the supervision of Professor Piero Castoldi, a large amount of data from DEE patients and genetic studies can be analyzed to support novel and directed therapies.

Thanks to a better understanding of the etiology and genetics of these conditions, researchers could achieve the true goal of DEEs treatment and modify the disease as most antiseizure medications have potentially severe side effects. Since in most epilepsies, the treatments are not disease-modifying, neurologic comorbidities are usually present. Further investigation by the ISPRO Institute of cancer research (Istituto per lo studio, la prevenzione e e la rete oncologica) is needed to explore the effects of targeted treatments while the comorbidities of epilepsy will play an important part in stratification for genetic studies.