Severe epilepsy increases care needs for people with Rett
Hard-to-control seizures tied to higher hospital use in real-world study
People with Rett syndrome who also have epilepsy use more healthcare services, especially emergency room visits and hospital stays, a U.S. study reports.
The increase was most pronounced in those with severe epilepsy, meaning seizures that last longer or don’t respond well to treatment.
“It is important to educate health professionals of the high rate of concomitant epilepsy among [Rett] syndrome and how it can represent a substantial burden to patients and families,” the researchers wrote.
The study, “Prevalence, severity, frequency and healthcare resource use of epilepsy among individuals with Rett Syndrome: analysis of data from a Rett Center of Excellence,” was published in Frontiers in Neurology.
Why epilepsy is common, and often severe, in Rett syndrome
Rett syndrome is most often caused by mutations in the MECP2 gene, which lowers the activity of the MeCP2 protein. Because this protein helps keep brain cells healthy and supports communication between them, reduced MeCP2 activity disrupts normal brain development.
Between 50% and 90% of people with Rett syndrome develop epilepsy, especially those with more severe developmental challenges. However, “real-world evidence regarding epilepsy in [Rett], frequency, severity of seizures, and their impact upon healthcare resource utilization (HCRU) is limited,” the researchers wrote.
To better understand this, researchers from Acadia Pharmaceuticals and Health Analytics reviewed electronic medical records of people with Rett receiving care at Vanderbilt University Medical Center between 1990 and 2023.
The analysis included 98 individuals with Rett, nearly all of whom were female (92.9%). Epilepsy was diagnosed in 71 people (72%) at an average age of 8.6 years. Among them, 29 had focal epilepsy, which begins in one area of the brain, and 23 had generalized epilepsy, which starts on both sides of the brain.
Among the 40 patients with available data, one-quarter had daily seizures, 22.5% had monthly seizures, and 17.5% had weekly seizures. More than half of those with severe epilepsy (13 people) had daily seizures. In contrast, 51.9% of people with non-severe epilepsy reported no seizures during the first year after diagnosis.
Treatment for epilepsy most frequently included levetiracetam (45.8%), clonazepam (37.3%), and oxcarbazepine (30.5%).
Other common symptoms included difficulty swallowing (40.8%), constipation (37.8%), gastroesophageal reflux disorder (37.8%), scoliosis, a sideways curvature of the spine (36.7%), vomiting (30.6%), and sleep apnea (30.6%), which is when breathing repeatedly stops during sleep.
Severe epilepsy tied to more emergency visits and hospital stays
During the one-year follow-up period, people with severe epilepsy visited the emergency department significantly more often than those with non-severe epilepsy (27% vs. 7%). Hospitalizations were also significantly more common in the severe group (37% vs. 14%). Outpatient visit rates, however, were similar between the groups.
Put another way, people with severe seizures were “3.9 times more likely to visit an [emergency department] and 2.5 times more likely to be admitted to a hospital in the year post initial diagnosis,” the researchers wrote.
A significantly higher proportion of people with severe epilepsy also had epilepsy-related hospitalizations (33% vs. 7%). And across all patients with epilepsy, hospitalizations increased in the year after diagnosis compared with the year before (21% vs. 7%).
According to the researchers, “to alleviate additional burden among caregivers and patients, the goal to stabilize the frequency of seizures is essential; especially for those with severe epilepsy.”
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