Dravet syndrome is associated with a high prevalence of behavioral problems that can severely affect quality of life, compared with the general population or to patients with epilepsy but without this disease, a study reveals.
These findings highlight the need for active management and treatment strategies to address such problems, which should be considered as part of the management plan for patients with Dravet syndrome.
The study, “Behavior problems and health-related quality of life in Dravet syndrome,” was published in the journal Epilepsy & Behavior.
Patients with Dravet syndrome struggle with a high seizure burden and therapy resistance, and the disease can have a major impact on development and overall behavior. Comorbidities, or coexisting conditions, such as cognitive impairment, psychiatric problems, and social difficulties are common among these patients, many of whom develop behavioral issues.
Research and treatment of Dravet syndrome mainly focuses on the management of the physical symptoms and disease manifestations. Still, emotional and behavioral problems can significantly affect children’s quality of life, as well as that of their parents, and are sometimes considered to be even more disabling than the seizures.
To gain better insight into the prevalence and relevance of behavioral problems in this population, researchers evaluated 85 patients diagnosed with Dravet syndrome and 31 patients with SCN1A-related seizures but without Dravet syndrome, ranging in age between 2 and 67 years. Mutations in the SCN1A gene are associated with different degrees of impairment in specific brain nerve cells as well as symptom severity in Dravet.
The team found that 16.5% of Dravet patients had borderline behavioral problems and 40% had clinically relevant behavioral problems, compared with 16.1% and 9.7% in the non-Dravet group.
Patients with Dravet struggled mainly with attention problems: 34.1% scored in the borderline range and 28.2% scored in the clinical range. In contrast, those in the non-Dravet group struggled most with withdrawn behavior — the tendency to avoid unfamiliar situations — and anxiety/depression.
Dravet patients also scored higher on all behavioral problem scales and subscales, namely aggressive behavior (24.7%), withdrawn behavior (22.4%), and somatic problems (22.3%) — major emotional distress in response to physical symptoms.
“The high prevalence of behavior problems in Dravet syndrome is worrisome, and active management of these problems might offer an opportunity for intervention and treatment,” the researchers wrote.
In general, the incidence of behavior problems was similar across different age groups. Only a small decrease in total behavioral issues, particularly related to attention, was detected among patients between 6 and 17 years old.
Health-related quality of life was found to be significantly lower for Dravet patients than the general population. In addition, physical and social functioning scores were especially low and decreased even more in older patients. Social functioning refers to the ability of an individual to engage in occupations and to participate in social activities.
“This could be due to a number of factors, such as disease progression with advancing age or because of parents becoming increasingly aware over time of the patients’ disability and difference from their peers,” the researchers said.
However the opposite was true for emotional functioning, with Dravet patients showing relatively higher scores, which increased for older patients. Emotional functioning is defined as awareness, expression, and regulation of emotions.
The team found that behavioral problems directly correlated with poorer health-related quality of life in these patients, while seizure frequency only had an indirect effect that was mediated by cognitive impairment: The more severe the epilepsy, the more severe the cognitive impairment.
“The relationship between seizure frequency and cognition might therefore, (in part) be a reflection of a worse genetic deficit leading both to more frequent seizures and worse cognition,” they wrote.
“Behavior problems seem to be much more related to psychosocial than to physical functioning, and even somatic problems were significantly related to psychosocial but not to physical functioning,” the team said, suggesting that “active management of behavioral problems in patients with Dravet syndrome might offer an opportunity for intervention and should be considered as part of the management plan.”
Additional studies are still warranted to identify potential risk factors for behavioral problems in this population.