Clinical Experience of Cortical Visual Impairment (CVI) in a Spectrum of Developmental and Epileptic Encephalopathies (DEEs)
Abstract number :
1.364
Submission category :
12. Genetics / 12A. Human Studies
Year :
2023
Submission ID :
385
Source :
www.aesnet.org
Presentation date :
12/2/2023 12:00:00 AM
Published date :
Authors :
Presenting Author: Megan Abbott, MD – University of Colorado
Andrea Miele, PhD, ABPP-CN – University of Colorado; Megan Stringfellow, BS – University of Colorado; Lacie Taylor, DO, MS – Rocky Vista University; Kourtney Santucci, MD – University of Colorado; Kristina Malik, MD – University of Colorado; Katie Angione, MS, CGC – University of Colorado; Kilby Mann, MD – University of Colorado; Ann Reynolds, MD – University of Colorado; Lauren Treat, MD – University of Colorado; Tristen Dinkel, MSPC, BSN – Children's Hospital Colorado; Margarita Saenz, MD – University of Colorado; Scott Demarest, MD, MSCS – University of Colorado
Rationale:
Cortical visual impairment (CVI) remains significantly under-diagnosed in neurogenetic conditions. For the DEEs served by our Neurogenetics clinic (STXBP1, SLC6A1, Ring 14, and 8p related disorders), CVI has been reported scarcely among cohorts. Overall, this study is looking at the prevalence and severity of CVI in these populations. Specifically, the recently developed CDKL5 Clinical Severity Assessment (CCSA) vision subdomain (CCSA-V) was utilized to look at CVI as it was designed for a similar DEE where patients cannot participate in visual acuity assessments. In addition, the relationship between CVI and neuropsychological testing scores was explored.
Methods:
A retrospective chart review was completed on all patients who were seen/consented in the Neurogenetic clinic from 2020 through 2023. Utilizing standardized history/examination forms, clinical data was collected including demographics, genotype. In addition, the CCSA was piloted on all patients by a trained assessor. The CCSA-V includes the following items: fixing and following, optokinetic nystagmus reflex, eye alignment and eye movements. Scores for each item were calculated on a scale of 0-100, with 100 being the most severe impairment. In addition, the clinician’s overall impression of diagnosis of CVI was recorded (yes/no). Children needed to have an ophthalmologic exam that demonstrated intact ocular structure to receive a diagnosis of CVI. Vineland Adaptive Behavioral Scales (VABS) scores were recorded for each patient as well. Descriptive statistical analysis was performed on the group as a whole and the individual conditions, including mean, median, range. Correlations between groups were calculated using a Mann-Whitney U test for non-parametric data, and statistical significance was set at a p-value < 0.05.
Genetics