Epileptic encephalopathies are severe brain disorders of early age that manifest with (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death. The concept of “epileptic encephalopathies” is based on the assumption that aggressive ictal (seizure) and electrical (electrographic) epileptogenic activity during brain maturation is the main causative factor of progressive cognitive and neuropsychological deterioration or regression. Conversely, this deleterious epileptic activity is a specific age-related brain reaction of excessive neocortical excitability to different pathological conditions, which are focal or diffuse, of symptomatic or idiopathic cause. This age-related epileptogenic reaction is peculiar to the immature brain and varies significantly in accordance with the stage of brain maturity at the time that this occurs. Thus, EEG demonstrates primarily burst-suppression patterns in the neonatal period, hypsarrhythmia in infancy, and slow generalized spike-wave discharges (GSWDs) in early childhood. With advancing age, the seizure and electrographic epileptogenic features may evolve from one to another age-related stage that is from burst suppression to hypsarrhythmia and then to slow GSWD. All epileptic encephalopathies have a tendency to abate, discontinue, or even stop in adolescence but often with serious neurocognitive residuals.
Infantile spasms are normally treated either with a course of Prednisolone – oral steroid – or often a course of ACTH – making the body create extra steroid. If other kinds of seizures occur there are a huge number of other anti-epileptic medications that can be tried. With this syndrome, as in all types of epilepsy, the medication’s effect on a specific child cannot be foretold in advance so they may need to try several and some children may need more than one medication at a time. Dependent on the underlying cause, surgery of the brain might also be a possibility for a small number of children. As with all children having disabilities with learning, education and therapies – physio/speech/occupational – should be scheduled for the child as this will ensure that he/she is assisted in reaching their full potential as well as live life to the fullest, however severe or mild their problems are.
Wallerstein et al. (2008) reported a girl with EIEE1 due to a heterozygous truncating mutation in the ARX gene (). She was the product of a twin pregnancy conceived by in vitro fertilization with a donor egg and the father's sperm. She developed severe intractable myoclonic seizures at age 4 months, consistent with epileptic encephalopathy. She had delayed development, with poor visual tracking and poor speech development. Mild dysmorphic features, including epicanthal folds, and mildly low-set ears were also noted. The other twin was apparently unaffected. The findings indicated that haploinsufficiency of the ARX gene can result in a severe phenotype in females.
Language Assistance Available:
As indicated above, ACTH is a cleavage product of the pro-hormone, proopiomelanocortin (POMC), which also produces other hormones including α-MSH that stimulates the production of melanin . A family of related receptors mediates the actions of these hormones, the MCR, or melanocortin receptor family. These are mainly not associated with the pituitary - adrenal axis. MC2R is the ACTH receptor . While it has a crucial function in regulating the adrenal, it is also expressed elsewhere in the body, specifically in the osteoblast , which is responsible for making new bone, a continual and highly regulated process in the bodies of air-breathing vertebrates.  The functional expression of MC2R on the osteoblast was discovered by Isales et alia in 2005.  Since that time, it has been demonstrated that the response of bone forming cells to ACTH includes production of VEGF , as it does in the adrenal. This response might be important in maintaining osteoblast survival under some conditions.  If this is physiologically important, it probably functions in conditions with short-period or intermittent ACTH signaling, since with continual exposure of osteoblasts to ACTH, the effect was lost in a few hours.
Language Assistance Available: