Longitudinal neurodevelopmental profile of a pediatric patient with de novo SPTAN1, epilepsy, and left hippocampal sclerosis

• Type of Material: Article
• Authors: C Luongo-Zink, William James College; Carla Ammons, Emory University; R Al-Ramadhani, Emory University; Rachel Logan, Emory University; Kim Ono, Emory University; Sonam Bhalla, Emory University; Ammar Kheder, Emory University; DJ Marcus, Children's Healthcare of Atlanta; Daniel Drane, Emory University; Donald Bearden, Emory University
• Language: English
• Date: 2022-01-01
• Publisher: Elsevier Inc
• Publication Version: Final Published Version
• Copyright Statement: © 2022 The Authors
• License: Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International
• Final Published Version (URL): http://dx.doi.org/10.1016/j.ebr.2022.100550
• Title of Journal or Parent Work: Epilepsy and Behavior Reports
• Volume: 19
• Start Page: 100550
• End Page: 100550
• Keywords: Neuropsychology; Pediatric epilepsy; SPTAN1; Hippocampal sclerosis
• Research Categories: Health Sciences, Medicine and Surgery

Abstract

Pathogenic variants in SPTAN1 result in abnormal neurodevelopment but limited information is available on the spectrum of neurodevelopmental profiles associated with variations in this gene. We present novel data collected at two time points over a three-year period in a nine-year-old patient with heterozygous de novo SPTAN1 variant, drug-resistant epilepsy, and left hippocampal sclerosis. Across evaluations, our patient's performance was highly variable, ranging from below age expectation to within age-expected range. The patient exhibited relative cognitive strengths at both time points on verbal-expressive tasks. Weaknesses were seen in her attention, executive function, psychomotor processing speed, fine motor, visual-motor integration, and social skills. Memory findings were consistent those associated with left hippocampal sclerosis. Evaluations resulted in diagnoses including attention deficit hyperactivity disorder and autism spectrum disorder.