DEEs are accompanied by a wide variety of seizure types. Every person’s seizure experience is different, and not all are alike. However, the patterns of seizures tend to be consistent. However, a patient with a given DEE will tend to have a cluster of symptoms and features that typically occur together – an epilepsy syndrome.1 Some of these include:
If a person presents with encephalopathy, assessment may include several measures in order to reach a diagnosis of a specific DEE:1
The identification of an increasing number of genetic alterations and their pathophysiological roles in cellular signaling has led to the development of novel precision therapies. At this time, several genetic loci have been identified, with specific genotype–phenotype correlations between genes and a particular encephalopathy. The implementation of new treatments that target the underlying mechanisms gives hope for disease modification that will improve both the seizure burden, as well as the neurodevelopmental outcomes of affected children.2
Delays in diagnosis are a frequent challenge in epilepsy, including DEEs. Across epilepsy centers in the United States, most (approximately 70%) do not have a dedicated clinic for assessment and management of new-onset seizures. Additionally, most centers recognize a lack of adequate care based on patient insurance coverage, resource limitations, and long wait and travel times that worsen outcomes. Moreover, diagnostic delays were reported across centers, with the median time to specialist visits estimated to be 2 to 4 weeks, though delays of 5 weeks or longer before pediatric patients with new-onset seizures could be evaluated by a specialist were also noted.3 These delays may also be compounded with common factors, including parents not recognizing events as seizures, pediatricians missing or deferring diagnosis, neurologists deferring diagnosis, and scheduling problems, resulting in major diagnostic delays. In one clinical study, 41% (70/172) of children experienced ≥1 month delay to diagnosis.4
Misdiagnoses are frequently complicated by a lack of treatment, with one retrospective study finding that nearly one-third (31.8%) of patients with new epilepsy remained untreated for up to 3 years after diagnosis.5
