Epilepsy & behavior : E&B · 2025
Understanding lived experiences with KCNQ2 developmental and epileptic encephalopathy.
СтатьяНазвание и аннотация: Перевод пока не подготовлен
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Potashman Michele H, Rudell Katja, Abetz-Webb Linda, Suminski Naomi, Gold Audra, Doma Rinchen, Jarodia Kavita, Buckley Chris, Ridley Matthew, Lerner Jason, Mather Jim, Coric Vlad, Numis Adam L, Sands Tristan T, Millichap John, Berg Anne T, L'Italien Gil
Аннотация
BACKGROUND: KCNQ2 developmental and epileptic encephalopathy (KCNQ2-DEE) is a rare pediatric disorder characterized by seizures and neurodevelopmental impairments. Parent- and healthcare professional (HCP)-reported outcomes regarding the impacts of seizures and neurodevelopmental impairments may guide the design of clinically meaningful KCNQ2-DEE outcome measures.
METHODS: Parents of children with KCNQ2-DEE (N = 53) and HCPs with KCNQ2-DEE expertise (N = 2) participated in qualitative interviews exploring signs, symptoms, and impacts of KCNQ2-DEE, and how varying KCNQ2-DEE phenotypes affect child development. Interviews were recorded, transcribed, coded, and analyzed by ATLAS.Ti v23 software.
RESULTS: The most common KCNQ2-DEE concepts parents reported were difficulties with communication (88.9 %), and gross (81.5 %) and fine (63.0 %) motor problems. Difficulty with communication (74.1 %), behavioral disorders (37.0 %), and gross motor problems (24.1 %) were the most impactful and bothersome issues for parents. When asked to rate how impacted they were by each concept (0 = "not impacted" to 10 = "extremely impacted"), the most bothersome symptoms were difficulty with communication (mean score [SD] = 8.6 [1.7]; 87.0 % of parents), cognitive delays (8.1 [2.0]; 37.0 % parents), and personal care and hygiene issues (7.4 [2.2]; 29.6 % parents). Seizures were the least bothersome symptom post-infancy (mean score [SD] = 5.3 [3.6]; 87.0 % parents). Children's developmental abilities varied substantially within and between KCNQ2-DEE phenotypes and across age groups. Overall, HCPs reported largely similar concepts to parents of children with KCNQ2-DEE.
CONCLUSIONS: These findings identify outcome domains important to those with KCNQ2-DEE and may inform the development of measurement tools and endpoint selection for therapeutic trials.
METHODS: Parents of children with KCNQ2-DEE (N = 53) and HCPs with KCNQ2-DEE expertise (N = 2) participated in qualitative interviews exploring signs, symptoms, and impacts of KCNQ2-DEE, and how varying KCNQ2-DEE phenotypes affect child development. Interviews were recorded, transcribed, coded, and analyzed by ATLAS.Ti v23 software.
RESULTS: The most common KCNQ2-DEE concepts parents reported were difficulties with communication (88.9 %), and gross (81.5 %) and fine (63.0 %) motor problems. Difficulty with communication (74.1 %), behavioral disorders (37.0 %), and gross motor problems (24.1 %) were the most impactful and bothersome issues for parents. When asked to rate how impacted they were by each concept (0 = "not impacted" to 10 = "extremely impacted"), the most bothersome symptoms were difficulty with communication (mean score [SD] = 8.6 [1.7]; 87.0 % of parents), cognitive delays (8.1 [2.0]; 37.0 % parents), and personal care and hygiene issues (7.4 [2.2]; 29.6 % parents). Seizures were the least bothersome symptom post-infancy (mean score [SD] = 5.3 [3.6]; 87.0 % parents). Children's developmental abilities varied substantially within and between KCNQ2-DEE phenotypes and across age groups. Overall, HCPs reported largely similar concepts to parents of children with KCNQ2-DEE.
CONCLUSIONS: These findings identify outcome domains important to those with KCNQ2-DEE and may inform the development of measurement tools and endpoint selection for therapeutic trials.