Validation of a symptom-based questionnaire for pediatric CNS demyelinating diseases

PURPOSE Optic neuritis is a manifestation of numerous neuroinflammatory disorders. Recognition of current and prior symptoms may facilitate identification of an underlying multifocal neurologic disease. The purpose of this study was to determine whether a symptom-based questionnaire could inform clinical decision making by identifying children with visual complaints who may have a systemic demyelinating disorder. METHODS Children with visual changes from non-demyelinating disease were compared with patients with confirmed pediatric-onset multiple sclerosis (MS) or neuromyelitis optica spectrum disorder (NMOSD). Participants completed a 21-item questionnaire to capture their recent (<30 days) and remote (>30 days) symptoms of neurologic dysfunction. The questionnaire scores were compared using t tests, and the 95% confidence interval for each group was used to determine a threshold score suggesting demyelinating disease. RESULTS We enrolled 51 participants (30 females [59%]) with a mean age of 14.6 years (range, 4-21): 25 in the non-demyelinating disease group and 26 with MS/NMOSD. The mean questionnaire score for the non-demyelinating group was 5.0 points (95%CI, 3.3-6.9); for the MS/NMOSD group, 9.4 points (95% CI, 7.4-11.4) for the MS/NMOSD group (P < 0.002). Questionnaire results were dichotomized using a score of >= 7 as indicative of demyelinating disease, with 69% sensitivity and 72% specificity. An abbreviated questionnaire, using 8 questions that differed between groups, had a sensitivity of 65% and specificity (92%). CONCLUSIONS A symptom-based questionnaire is sensitive and specific for identifying children with CNS demyelinating disease and may be useful as a screening tool for children with vision complaints and possible demyelination.