More severe early symptoms lead to poorer long-term life quality: Study

Severe epilepsy, behavioral challenges predict life quality up to 10 years later

Margarida Maia, PhD avatar

by Margarida Maia, PhD |

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More severe epilepsy and greater behavioral challenges predict worse health-related quality of life (HRQoL) up to 10 years later in people with Dravet syndrome, a study has found.

In addition, early use of sodium channel blockers — a type of anti-seizure medication that should be avoided in most Dravet patients because it can make symptoms worse — was also linked to future poorer quality of life in older patients, but not in younger patients.

These findings call attention to the importance of early and correct diagnosis and management of Dravet syndrome.

“It may be that the patients in the younger group, having benefited from an earlier diagnosis, were managed more appropriately at an early stage of the disease,” the researchers wrote.

The study, “Comorbidities and predictors of health-related quality of life in Dravet syndrome: A 10-year, prospective follow-up study,” was published in the journal Epilepsia.

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68 families completed questionnaires at 10-year follow-up

Dravet syndrome is a rare and severe type of epilepsy that begins to manifest in the first year of life. Besides seizures, which are usually resistant to standard treatments, children also develop developmental delays and behavioral problems.

Living with Dravet syndrome may take a toll on the well-being of patients and their families, but not many studies have looked into how the disease affects health-related quality of life over time or which factors can predict whether it will get worse.

To know more, a team of researchers in Glasgow, in the U.K., contacted 113 families of Dravet patients who carried a mutation in the SCN1A gene, the most common cause of Dravet. This gene provides instructions to make a specific subunit of a sodium channel protein, which plays a key role in the communication between nerve cells.

The families had taken part in an earlier 2010 study where younger age at seizure onset, myoclonic seizures (sudden muscle jerks), motor problems, learning difficulties, and behavioral challenges were found to be linked to lower quality of life.

For the new study, the researchers asked these families to fill out the same questionnaires, including those assessing HRQoL, 10 years later. A total of 68 families (60.2%) completed the questionnaires.

Seven (5.8%) of a total of 120 patients had died, “confirming that DS is associated with significant mortality,” the researchers wrote.

A total of 28 patients were 5 years old or younger at the study’s start (baseline) and 10-15 years old at follow-up, while the remaining 40 patients were 6 years or older at baseline and 16 or older at the 10-year follow-up. Age at seizure onset was similar in the two groups (5.8 vs. 5.7 months), but younger patients had less of a developmental delay.

Compared with a reference population, Dravet patients at baseline scored about half the points in the Pediatric Quality of Life Inventory (PedsQL; mean of 44.49 vs. 84.61), a measure of HRQoL in children and adolescents where higher scores indicate better quality of life.

After 10 years, patients had experienced a further worsening in quality of life, scoring a mean of 38.6 in the PedsQL. This life quality decline was driven by the younger group of patients, who showed a reduction in PedsQL scores from 51.21 to 39.94 points. Similar drops were detected for PedsQL’s physical, cognitive, social, and eating domains.

This suggests that the severity of epilepsy early on in the disease course continues to affect quality of life at the 10-year follow-up.

Findings underscore importance of early diagnosis and treatment

No significant PedsQL score changes were detected over time for the older group of patients.

The observed life quality worsening in the younger group of patients likely “reflects disease progression,” the team wrote.

“Indeed, the first 5–6 years of life represent a progressively worsening phase with a widening gap compared to developmentally normal peers, in particular in terms of cognitive function and behavioral problems, which stabilize thereafter,” they added.

In addition, more severe epilepsy and greater behavioral challenges, as assessed with the Strength and Difficulties Questionnaire, at baseline were each linked to lower PedsQL scores, meaning poorer quality of life, at both baseline and follow-up.

“This suggests that the severity of epilepsy early on in the disease course continues to affect quality of life at the 10-year follow-up,” the researchers wrote.

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In older patients, seizure worsening due to the early use of sodium channel blockers was also an independent predictor of lower quality of life at the 10-year follow-up.

This suggests that getting a diagnosis as soon as possible is important because adequate treatment can be the key to the most optimal clinical outcomes.

In the study, “although patients had access to up-to-date treatment during the 10-year follow-up period, our results do not reflect the effects from newer anti-seizure medications such as cannabidiol [Epidiolex] or fenfluramine [Fintepla], as these treatments have only recently started to become available,” the researchers wrote.

The study’s findings, however, underscore “the need for careful therapeutic strategies, including the use of second-line anti-seizure medication as advised in the latest European and international guidance,” the researchers concluded.