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Understanding lived experiences with KCNQ2-development and epileptic encephalopathy (KCNQ2-DEE) - parent interviews
Potashman, MH., Rudell, K., Abetz-Webb, L., Suminski, N., Gold, A., Doma, R., Jarodia, K., Buckley, C. D., Ridley, M., Lerner, J., Mather, J., Millichap, J., Berg, AT., & L'italien, G. (2024). Understanding lived experiences with KCNQ2-development and epileptic encephalopathy (KCNQ2-DEE) - parent interviews. European Journal of Neurology, 31(1), 363.
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 o
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