BACKGROUND AND AIMS: While quantitative descriptions of KCNQ2- DEE have been provided from in-depth survey data, limited qualitative interview-based data exists describing the patient-caregiver experiences with KCNQ2-DEE and the burden of disease. We performed this study to develop KCNQ2-DEE conceptual models to illustrate the disease- and quality of life (QoL)-related experiences and identify its most burdensome aspects.
METHODS: One-on-one interviews were conducted with US-based parental caregivers of children (1–18 years-old, September through November 2023) with mild, severe, and profound KCNQ2-DEE phenotypes. Parents were recruited via a patient advocacy group (KCNQ2 Cures Alliance). Semi-structured interviews were audio recorded, transcribed, coded and analysed by ATLS.TI, following established qualitative research methods. Concept saturation was assessed, and 4 models were derived – one for each phenotype severity level and one overall model. The most burdensome disease aspects were discussed (rated on a 0–10 scale).
RESULTS: Based on interviews with 53 parents, the most common concepts reported were communication difficulties, gross and fine motor problems, and chewing/eating difficulties; each worsening with increasing phenotype severity and with age. Communication challenges was the most burdensome symptom (mean = 8.6/10, n= 47, 87% participants). Epileptic seizures were a key concern in infancy, but once adequately controlled were rated as one of the least burdensome symptoms post-infancy (mean = 5.0/10, n= 23, 43% participants)
CONCLUSION: KCNQ2-DEE is a multifactorial condition that manifests through numerous symptoms, resulting in significant impacts on the child and parent. These findings identify the outcome domains important to families and patients that could inform measurement tools and endpoint selection in future therapeutic trials.
