Developmental and epileptic encephalopathy (DEE) conditions are rare, and most have a genetic cause. Children with a DEE usually have epilepsy, difficulties with functional abilities and other health conditions also.
Knowing the genetic cause of DEEs is leading to the development of new medicines to improve how the gene works. New medicines are tested in clinical trials to see if they work. High quality measures are needed to see what the effects of new medicine are. It is also important to know how much improvement is meaningful, to understand the value of the changes that occur.
We conducted an online survey with 267 parents with a child with a DEE. The child needed to be 12 months or older and have severe difficulties with communication. We asked parents to tell us the top three areas of their child’s health and functional abilities where they wanted improvement. For each priority area, they told us what small changes would be meaningful and why.
Figure: Caregivers of children with developmental and epileptic encephalopathy identified meaningful changes in communication, movement, and daily activities. These insights were grouped into codes to guide what outcomes should be measured in clinical trials.
This study looked at how parents described meaningful change for communication, gross motor, fine motor, eating when they were a priority domain, and whether meaningful change was similar or different for different levels of abilities. This study also asked why the meaningful changes were important.
Commonly described meaningful changes included the child learning to communicate their preferences and feelings, learning to sit and walk, grasping objects for play, eating without choking and using utensils.
Some codes were reported for each level of ability (e.g., communicating needs/wants/likes). Other codes were specific to an impairment level (e.g., gaining head control if unable to walk).
Changes that were meaningful were expected to help the health and quality of life of the child and their families.
The meaningful change codes indicate important components that should be evaluated in clinical trials.