Background: Patient-reported quality of life (QoL) using standardized tools have been proposed as outcome measures in clinical trials. The NeuroQoL scale has been evaluated in patients with common neurological disorders (e.g., ischemic stroke, epilepsy, ALS, and Parkinson’s), but has not been applied to familial cerebral cavernous malformation (FCCM). FCCM is typically characterized by multiple brain lesions that can cause clinical symptoms (hemorrhages, seizures, headaches, neurological deficits) and affect QoL. The purpose of this study was to summarize NeuroQoL domain scores in FCCM patients.
Methods: NeuroQoL short forms covering 12 QoL domains (Figure) were completed by 50 FCCM adults enrolled in the Brain Vascular Malformation Consortium CCM Project. Raw scores summing responses in each domain were converted to T-scores, which are standardized to general (8 domains) or clinical (4 domains) reference populations with mean of 50 and standard deviation of 10. One-sample t-tests were used to determine whether mean T-scores were significantly different from 50 (p<0.05).
Results: We observed significant differences between FCCM and the reference populations on several domains (Figure). Compared to the general reference population, FCCM patients were more likely to have higher positive affect (56, p<0.001) and less depression (55, p<0.001), but lower social satisfaction (48, p=0.032). Compared to the clinical reference population, FCCM patients reported significantly less stigma (61, p<0.001) and less fatigue (54, p=0.018).
Conclusion: FCCM patients differed from the reference populations on several NeuroQoL domains, including positive affect, depression, stigma, fatigue and social satisfaction. Further studies are needed to understand the effect of clinical symptoms on NeuroQoL domains in FCCM.