The impact of Dravet syndrome on the quality of life of patients and caregivers is generalizable across Western countries, and should be targeted as part of new therapy evaluations, research suggests.
The findings were published in an article, “Perception of impact of Dravet syndrome on children and caregivers in multiple countries: looking beyond seizures,” in the journal Developmental Medicine & Child Neurology.
Currently, Dravet syndrome treatment focuses on relieving seizure burden, yet treatment side effects include fatigue, cognitive impairment, and behavioral issues. There are numerous other, non-fatal symptoms that carry important consequences for the patient, such as severe developmental impairments, issues with fine motor skills and gross motor function, and impaired cognition and communication difficulties that ultimately lead to social isolation.
All these factors contribute to poor health-related quality of life for patients with Dravet syndrome. Additionally, these patients’ complex care needs can have a detrimental impact on the quality of life of their caregivers. Consequently, there is an unmet need for more effective treatments to improve both the patient’s and caregiver’s quality of life.
A previous small study exploring the wider impact of Dravet syndrome found that patients and caregivers were affected in a broad range of areas, including daily activities, work, family relationships, emotional well-being, and sleep. However, this study was limited to France, and there may be country-specific impacts on quality of life associated with caring for a child with a chronic condition such as Dravet syndrome. It is therefore unclear if the findings are generalizable.
For these reasons, researchers from Necker Enfants Malades Hospital examined whether the caregiver issues identified in France were relevant in the U.K., U.S., Italy, and Australia.
Twenty caregivers (13 of them females; mean age of 43 years) of Dravet syndrome children participated in one-hour qualitative telephone interviews in the four countries: eight in Australia and four in each of the other countries. The interviews included topics about diagnosis, treatment, symptoms, impact on child and caregiver quality of life, and coping strategies.
All caregivers reported seizures in the Dravet syndrome children, with the most common types being tonic-clonic (also called a convulsion), absence (which cause lapses in awareness), or focal-impaired awareness (seizures that start in one side of the brain, and the individual is not aware of their surroundings during it). Fever and physical activity were the most commonly reported seizure triggers. The caregivers also reported impacts of the disease on children, which included impaired cognition, motor skills, communication, social skills, and behavior.
The caregivers perceived the impacts that were not directly attributable to Dravet syndrome to be as important as the direct impact of seizures. Eighteen out of the 20 caregivers said the condition affected many areas of their lives, especially their relationships with their partners and other family members, as well as their careers. More than half of them also reported impacts on their leisure activities, finances, sleep, daily activities, physical functioning, social life, and emotional well-being.
Coping strategies adopted by caregivers included getting help from a babysitter or family member to look after their Dravet syndrome child, which was reported by 17 of the 20 caregivers. Other approaches included avoidance strategies, such as not going outside in hot weather (reported by 17 of the 20 caregivers) and making home adjustments (15 of 20), such as installing air conditioning, having their child’s bedroom on the ground floor, and getting seizure monitors.
“Although caregivers reported numerous coping strategies, none described their effectiveness spontaneously,” the study said.
“The findings reported here are consistent with the previous study and indicate that the instruments identified previously are still relevant and should be measured in future clinical trials on Dravet syndrome,” the researchers wrote. “Measuring change in these concepts in a clinical trial of a new treatment would help to evaluate its efficacy. Future research would be required to fully develop a composite endpoint.”
How caregivers’ quality of life is impacted by Dravet Syndrome is unknown in countries with less developed healthcare systems or different cultural attitudes, the study said. The researchers noted that the differences between countries may reflect fundamental differences in the patient (Dravet syndrome severity, treatment type) and caretaker demographics, given that a small number of caregivers were interviewed.