Abstract WP224: Association of Quality-of-Life Domains and Clinical Symptoms in Pediatric Cerebral Cavernous Malformation Patients

Abstract

Introduction: Cerebral cavernous malformations (CCMs) in children are associated with focal seizures, intracranial hemorrhage, and neurologic deficits, impacting quality of life (QoL). However, previous studies have not evaluated the impact of CCMs on QoL domains in pediatric populations. Methods: Completed self-reports (n=16) or parent-proxy reports (n=32) measuring patient outcomes in physical, mental and social health domains were collected from 48 pediatric familial CCM patients (5-17 years) enrolled in the Brain Vascular Malformation Consortium (BVMC) CCM study between 2019-2022. Survey responses were converted into domain T-scores and standardized against a reference population (mean ( M )=50, SD=10). Scores were oriented for higher scores to reflect worse outcomes. One-sample t-tests analyzed whether mean T scores for each domain differed significantly from 50 (p<0.05). Multivariable linear regression tested whether PROMIS domain T scores were associated with (a) prior hemorrhage, (b) history of seizures, and (c) history of headaches, adjusting for age and sex. Standardized effect sizes were reported. Results: Compared to the reference population, pediatric CCM patients reported significantly better levels of mobility ( M= -2.47, 95% CI=-4.25 to -0.08; p=0.042), anxiety ( M =-4.66, 95% CI=-8.37 to -0.04, p=0.02), depression ( M= -6.13, 95% CI=-8.79 to -3.47, p<0.01), fatigue ( M = -7.40, 95% CI=-10.64 to -4.16, p<0.01), and pain (M =-6.71, 95% CI=-9.79 to -3.63, p<0.01). Multivariable linear regression showed that CCM patients with a history of headaches had impacted peer relationships compared to those without headaches, with an effect size of 7.86 (95% CI=0.162 to 15.55, p=0.05). Patients with a history of seizures reported higher pain scores compared to those without seizures, with an effect size of 5.58 (95% CI=-0.603 to 11.77, p=0.08). Conclusion: Psychological and social functioning domains, particularly experiences in pain and relationships, were impacted in the pediatric CCM population. Further studies conducted with larger sample sizes could determine if the PROMIS questionnaire can reliably assess patient or proxy-reported outcomes in the pediatric CCM population and evaluate within-person changes over time.