Downstream Impacts of Undiagnosed Lennox-Gastaut Syndrome: Scott Perry, MD

WATCH TIME: 4 minutes

"I think probably one of the most important limitations of not getting the diagnosis is that those people are unable to connect with others that have the condition, they're unable to connect to advocacy organizations like the Lennox-Gastaut Syndrome Foundation, or other resources where they can get more information about their condition, they can get information about the breadth of treatments that are available."

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. Lennox-Gastaut syndrome (LGS), a type of DEE, is characterized by an electroclinical trend of generalized slow spike wave activity in the EEG, multiple types of epileptic seizures, and slow mental development. LGS can occur for many reasons; however, approximately 25% of cases have no identified cause.

Etiology of LGS can be divided into 2 subtypes: secondary or symptomatic LGS, and idiopathic or cryptogenic LGS. Secondary LGS can be caused by a number of factors, including tuberous sclerosis, infections/inflammation such as encephalitis, meningitis, injuries to the frontal lobes of the brain, birth injury/trauma, metabolic causes, and developmental brain malformations. West syndrome, or infantile spasms, is not a specific cause of LGS, but about 30% of children who develop LGS have a prior history of West syndrome and usually have a more severe clinical course.

Identifying children with LGS at the earliest stages is critical to long-term development and access to available FDA-approved treatments, says Scott Perry, MD. Perry, head of neurosciences at the Jane and John Justin Neurosciences Center of Cook Children’s Medical Center, notes that LGS has become an increasingly difficult disorder to diagnose because of its various seizure types and presentation. In an interview with NeurologyLive®, he discussed some of the negative downstream impacts undiagnosed LGS can have on a patient, including the direct effects on treatments, connecting with patient advocacy organizations, and future trials for drug development. Furthermore, Perry gave thoughts on the ways to continue to make LGS diagnosis easier going forward, including the need to ask patients about the specific types of seizures they incur in a daily basis.