This targeted literature review aimed to identify signs, symptoms, and impacts (i.e., concepts) associated with focal onset seizures (FOS), generalized onset seizures (GOS), and Dravet syndrome (DS) to support development of preliminary conceptual models (CMs).
Regulators emphasize including the voice of patients/caregivers for development of clinical outcome assessments in clinical trials. It is important to identify disease/treatment-related concepts that are important to patients and their caregivers.
The PubMed database was searched in 2022 and 2023 for literature about disease- or treatment-related concepts experienced by adult and pediatric patients with FOS, GOS, or DS, using a PICOS framework. Search results were reviewed by title, abstract; remaining articles underwent full text review to confirm inclusion. Concepts were extracted from publications with a focus on qualitative research with patients/caregivers.
The review resulted in 21 articles (FOS), four articles (GOS), and eight articles (DS). Seventy-two signs/symptoms, including autonomic, motor, psychologic symptoms, and 42 impacts, including cognitive, physical, emotional impacts were identified for FOS. For GOS, 55 signs/symptoms, including seizure/seizure-related symptomatology, other symptoms like pain and headaches and 37 impacts to emotional, social, other aspects of well-being were identified. For DS, 54 signs/symptoms related to seizures as well as developmental, mobility, sleep-related symptoms and 42 impacts, including impacts to behavior, emotions, social life, were identified. A CM was created for each indication.
The CMs highlight a multitude of concepts reported for FOS, GOS, or DS. This review emphasizes the heterogeneous patient experience, further underscoring the complexities with diagnosing/treating individuals who present with this broad range of signs/symptoms and associated impacts. These CMs can be leveraged in future research as a starting point on what signs/symptoms and impacts may be most relevant to patients/caregivers; they illustrate that the patient experience extends beyond seizures and includes a broad set of features to be considered.