Editors Note: When you have child with seizures and developmental delay, regardless of diagnosis, you are part of a family. Your diagnosis may be one of a any number, my granddaughter is CDD, or cdkl5 if you will. Our family group is developmental and epileptic encephalopathies (DEE). Unfortunately, since most of us spend a large part of our lives just keeping it together. We don’t get to conferences or take courses that tell us what really is going on. So we ARE COMMENCING A SERIES, that hopefully will help.
Developmental and Epileptic Encephalopathy (DEE) refers to a group of severe epilepsies that are characterized both by seizures, which are often drug-resistant, as well as encephalopathy, which is a term used to describe significant developmental delay or even loss of developmental skills. In Developmental and Epileptic Encephalopathy, cognitive functions are influenced severely by seizures and interictal epileptiform activity, also by the neurobiological process behind Epilepsy. DEEs are also related to gene variants and the onset is usually during early childhood. The effect of seizures on cognitive function is partially dependent on the period of brain maturation in which the seizures occur, which in turn, is dependent on other factors, such as underlying pathology, genetic susceptibility factors, and seizure triggers (e.g., febrile illness). While cognitive impairments are often a consequence of the underlying pathology, independent of seizures, it is also important to recognize that seizures themselves also play a role in developing cognitive impairments.
The syndromes of neonatal-onset epileptic encephalopathy, infantile epileptic encephalopathy, and early childhood include early myoclonic encephalopathy, Ohtahara syndrome, West syndrome, Dravet syndrome (severe myoclonic epilepsy in infancy), Lennox–Gastaut syndrome (LGS), Landau–Kleffner syndrome (LKS), Epilepsy with continuous spike-and-waves during slow-wave sleep (ECSWS), Doose Syndrome (myoclonic atonic epilepsy), CDKL5 deficiency disorder (CDD), Tuberous sclerosis complex (TSC), SCN8A-Developmental and Epileptic Encephalopathy, and KCNQ2-Developmental and Epileptic Encephalopathy.
The approach to Epileptic Encephalopathy treatment includes some of the general principles and approaches to pediatric epilepsy treatment. The most appropriate anti-epileptic treatment is selected based on the type of epilepsy syndrome. Antiseizure medications includes clobazam, vigabatrin, zonisamide, phenobarbital, benzodiazapines, vigabatrin, and others are used for Developmental and Epileptic Encephalopathy treatment. Steroids therapies, vagus nerve stimulation, ketogenic diet and epilepsy surgery are also used for Developmental and Epileptic Encephalopathy management.