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Recognizing the Importance of Diagnosing Lennox-Gastaut Syndrome: M. Scott Perry, MD

The head of neurosciences at the Jane and John Justin Neurosciences Center of Cook Children’s Medical Center discussed the complex nature of Lennox-Gastaut syndrome and where improvements could be made in diagnosing patients. [WATCH TIME: 4 minutes]

WATCH TIME: 4 minutes

"Part of it is people sometimes don’t want to use the word, and don’t want to give the diagnosis of Lennox-Gastaut syndrome. Why? Well, the person who just got the diagnosis will go Google it and they might see a lot of information. For some, that’s a fear of giving that diagnosis."

Lennox-Gastaut syndrome (LGS) is a severe form of childhood-onset epilepsy characterized by multiple seizure types, cognitive and behavioral impairment, and distinctive EEG abnormalities. A disorder that develops over time, there are currently about 50,000 people in the US and 1 million worldwide who have an LGS diagnosis; however, some in the community wonder if there are others who may be misdiagnosed or not diagnosed at all.

Research has suggested that the variable presentation and delay in the evolution of the characteristic clinical and EEG features can lead to the difficulties with diagnosing LGS. It remains critical that patients receive a diagnosis as early as possible to help long-term prognosis, provide access to FDA-approved therapies specific to LGS, and to participate in ongoing clinical trials. Part of the problem with diagnosing the disorder is that some of the intellectual, cognitive, and developmental impairment aren’t always at the same time, says M. Scott Perry, MD.

Perry, head of neurosciences at the Jane and John Justin Neurosciences Center of Cook Children’s Medical Center, sat down with NeurologyLive® to discuss the importance of diagnosing LGS. He provided thoughts on why some patients get misdiagnosed and the factors that lead to that. In addition, he gave thoughts on specific qualities of patients with LGS to pay attention to, including slow spike-and-wave and generalized paroxysmal fast activity seen on an EEG test. Furthermore, he noted that in some cases the etiology of LGS is varied, and patients may present with characteristics similar to Dravet syndrome or other drug-resistant epilepsies.

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