Patient outcomes in KCNQ2 developmental and epileptic encephalopathy

Area of Science:

• Neurology
• Genetics
• Pediatrics

Background:

• KCNQ2 developmental and epileptic encephalopathy (DEE) is a severe genetic disorder.
• Understanding KCNQ2 DEE outcomes is crucial for patient management and care.
• Limited comprehensive reviews exist on the spectrum of KCNQ2 DEE outcomes.

Purpose of the Study:

• To systematically review and synthesize published literature on KCNQ2 DEE outcomes.
• To summarize seizure-related and non-seizure-related outcomes in pediatric patients.
• To analyze outcome trends based on patient age.

Main Methods:

• Searched three databases and congress proceedings (August 2023).
• Included case reports, observational studies, trials, and registries with patient-level data.
• Summarized outcomes by type (seizure/non-seizure) and age group.

Main Results:

• Reviewed 92 publications, with 70 reporting patient-level data (338 patients with seizures, 289 with non-seizure outcomes).
• Seizures began in the first week of life for 93.8% of patients, with 'multiple daily' frequency common. Seizure resolution occurred in 56.2% by age 5 (87.0%).
• Frequent non-seizure outcomes included neurological (73.3%) and developmental (52.9%) issues, with muscle tone, gross motor, and communication impairments most common.

Conclusions:

• Seizures in KCNQ2 DEE typically resolve in early childhood.
• Non-seizure-related neurological and developmental challenges become more prominent as children with KCNQ2 DEE age.
• These evolving challenges necessitate ongoing supportive care and management strategies for KCNQ2 DEE patients.