Understanding lived experiences with KCNQ2 developmental and epileptic encephalopathy

Area of Science:

• Genetics and Neurology
• Pediatric Rare Diseases
• Clinical Outcome Measurement

Background:

• KCNQ2 developmental and epileptic encephalopathy (KCNQ2-DEE) is a severe pediatric neurological disorder.
• Characterized by early-onset seizures and significant neurodevelopmental impairments.
• Existing outcome measures may not fully capture the patient and family experience.

Purpose of the Study:

• To explore parent and healthcare professional (HCP) perspectives on KCNQ2-DEE.
• Identify key signs, symptoms, and impacts of KCNQ2-DEE.
• Inform the development of meaningful outcome measures for KCNQ2-DEE.

Main Methods:

• Qualitative interviews conducted with 53 parents of children with KCNQ2-DEE and 2 expert HCPs.
• Interviews explored signs, symptoms, impacts, and phenotypic variations affecting development.
• Data analyzed using ATLAS.Ti v23 software.

Main Results:

• Parents most frequently reported communication difficulties (88.9%) and motor problems (gross 81.5%, fine 63.0%).
• Communication difficulties (74.1%), behavioral disorders (37.0%), and gross motor problems (24.1%) were most bothersome.
• Seizures were less bothersome post-infancy (mean score 5.3/10); developmental abilities varied significantly.

Conclusions:

• Parent and HCP perspectives highlight communication and motor skills as critical outcome domains in KCNQ2-DEE.
• Findings underscore the need for patient-centered outcome measures.
• Results will guide the selection of endpoints in future KCNQ2-DEE therapeutic trials.