Novel approaches to measuring cognition in individuals with severe to profound functional impairment: A pilot study in SCN2A-related disorder

Valid clinical outcome assessments with the ability to capture meaningful aspects of neurodevelopment for individuals with neurogenetic conditions associated with profound functional impairments are lacking, yet critical for clinical care and clinical trial readiness.

Citation:
Ludwig NN, Wojnaroski M, Suskauer SJ, ……. Downs J, Berg AT. Novel approaches to measuring cognition in individuals with severe to profound functional impairment: A pilot study in SCN2A-related disorder. Epilepsy Behav. 2024;160.

Keywords:
Cognition; Intellectual disability; Neurobehavioral manifestations; Neurodevelopment; Outcome assessment; SCN2A

Abstract:
Valid clinical outcome assessments with the ability to capture meaningful aspects of neurodevelopment for individuals with neurogenetic conditions associated with profound functional impairments are lacking, yet critical for clinical care and clinical trial readiness.