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

• Published in: Epilepsy & behavior 2024-11, Vol.160, p.109975, Article 109975
• Main Authors: Ludwig, Natasha N., Wojnaroski, Mary, Suskauer, Stacy J., Slomine, Beth S., Kaiser, Ariela, Paltell, Katherine, Evans, Lindsey, Tucker, Karis, Chapman, Chere A.T., Conecker, Gabrielle, Hecker, JayEtta, Myers, Leah Schust, Downs, Jenny, Berg, Anne T.
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Child; Child, Preschool; Cognition; Cognition - physiology; Female; Humans; Intellectual disability; Male; NAV1.2 Voltage-Gated Sodium Channel - genetics; Neurobehavioral manifestations; Neurodevelopment; Neuropsychological Tests; Outcome assessment; Pilot Projects; Psychometrics; SCN2A; Young Adult
• ISSN: 1525-5050; 1525-5069; 1525-5069
• DOI: 10.1016/j.yebeh.2024.109975

•Valid outcome assessments of neurodevelopment are lacking for those with profound impairments.•This pilot study explored measures in individuals with severe/profound SCN2A-related disorder.•Norm-referenced and alternative measures of neurobehavioral function were used.•Strengths and weaknesses emerged for norm-referenced and alternative measures.•Measures of responsivity showed promise and should be examined in future studies. 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. The purpose of this pilot study was to examine and compare the initial psychometric properties of a series of commonly used standardized and norm-referenced measures of cognition and adaptive functioning as well as alternative measures of neurobehavioral functioning designed to capture responsivity (i.e., alertness, awareness, responsivity to the environment) in those with acquired brain injuries in a sample of individuals with severe to profound functional impairment associated with a neurogenetic etiology. Ten individuals (median age = 7.5 years, IQR = 4.8–11.5, range 4–21; n = 8 male) with severe to profound functional impairment associated with SCN2A-Related Disorder and their parents were included in this study. Parents completed the Vineland Adaptive Behavior Scales, Third Edition Comprehensive Interview (Vineland-3) and the Developmental Profile, Fourth Edition Cognitive Scale (DP-4) and their children completed the Bayley Scales of Infant and Toddler Development Cognitive Scale (Bayley-4; given out of the standardized age-range) and two measures of responsivity, the Coma Recovery Scale, Pediatric and the Rappaport Coma/Near Coma Scale. Results demonstrated exceptionally low skills (median Vineland-3 Adaptive Behavior Composite = 35.5) and frequent floor effects across norm-referenced measures (i.e., Vineland-3, DP-4, Bayley-4); however, raw scores yielded more range and variability and no absolute floor effects. There were also no floor effects on measures of responsivity and findings suggest that these alternative tools may capture more variability in some aspects of neurobehavioral functioning that are critical to higher order cognitive functions, particularly for those with mental-ages below a 12 month-level. Initial evidence of construct validity of all mea