Authors :
Presenting Author: Rebecca Hommer, EdD – University of Maryland
Kelly Muzyczka, PhD – Decoding Developmental Epilepsies
Mary Wojnaroski, PhD – Nationwide Children's Hospital
Gabrielle Conecker, MPH – Decoding Developmental Epilepsies - DEE-P connection, International SCN8A Alliance & The Inchstone Project
JayEtta Hecker, MS – Decoding Developmental Epilepsies
Jenny Downs, MSc – The Kids Research Institute Australia
Anne Berg, PhD – Decoding Developmental Epilepsies
Natasha Ludwig, PhD – Kennedy Krieger Institute
Rationale:
Cortical/Cerebral Visual Impairment (CVI) is defined as reduced functional vision due to neurological impact to the visual system posterior to the lateral geniculate nucleus. CVI can impact neurodevelopment and compromise the validity of neurodevelopmental outcome measures when applied to individuals with CVI as these tools typically do not accommodate visual needs. The goal of this study is to (1) describe frequency of diagnosis and suspected diagnosis of CVI in a sample of severely affected children with Developmental and Epileptic Encephalopathy (DEE) and (2) describe the initial psychometric properties of a novel caregiver-reported measure of CVI severity in this groupMethods:
Caregivers of 267 individuals with DEEs and severe to profound functional impairment completed an online survey about their child’s diagnoses and visual behaviors (Median age=8 years, IQR = 4-14). Based on several functional scales commonly used in rehabilitation settings, impairments were profound in mobility (53%), communication (78%), eating (37%), and hand use (35%). Mean Developmental Profile, Fourth Edition (DP-4) Cognition Scale Age Equivalent (AE) was 12.1 months (SD=14.0, range=0-96). Diagnoses included: Intellectual disability (66%), autism (37%), and epilepsy (63%). Caregivers also reported whether their child had a diagnosis of CVI or a suspected diagnosis. A subset (N=218) completed an 18-item caregiver questionnaire of CVI severity based on behaviors rated on the CVI Range Assessment (Roman-Lantzy, 2018). The questionnaire has a range of 0-1 with lower scores indicating greater severity.
Results:
In the full sample, a CVI diagnosis was reported for 33% and suspected for 14%. CVI was more common in younger children (21.5%, ≤ 9y, 11.6%, >9y) and in those with more domains of profound functional impairment (21.4% >2 areas ,11.7% ≤ 2 areas; Figure 1). Mean CVI scores were significantly lower in those with a CVI diagnosis (M=0.56, SD=0.23) or suspected diagnosis (M=0.6, SD=0.27) than those without a diagnosis (M=0.72, SD=0.25, p< 0.001). Additionally, greater CVI severity was related to greater cognitive impairment on the DP-4 (ρ=0.51, p< 0.001; Figure 2.) and having more areas of profound functional impairment (ρ = -0.48, p< 0.001).