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Immunotherapy responsiveness and risk of relapse in Down syndrome regression disorder. Translational psychiatry Santoro, J. D., Spinazzi, N. A., Filipink, R. A., Hayati-Rezvan, P., Kammeyer, R., Patel, L., Sannar, E. A., Dwyer, L., Banerjee, A. K., Khoshnood, M., Jafarpour, S., Boyd, N. K., Partridge, R., Gombolay, G. Y., Christy, A. L., Real de Asua, D., Del Carmen Ortega, M., Manning, M. A., Van Mater, H., Worley, G., Franklin, C., Stanley, M. A., Brown, R., Capone, G. T., Quinn, E. A., Rafii, M. S. 2023; 13 (1): 276

Abstract

Down syndrome regression disorder (DSRD) is a clinical symptom cluster consisting of neuropsychiatric regression without an identifiable cause. This study evaluated the clinical effectiveness of IVIg and evaluated clinical characteristics associated with relapse after therapy discontinuation. A prospective, multi-center, non-randomized, observational study was performed. Patients met criteria for DSRD and were treated with IVIg. All patients underwent a standardized wean-off therapy after 9-12 months of treatment. Baseline, on-therapy, and relapse scores of the Neuropsychiatric Inventory Total Score (NPITS), Clinical Global Impression-Severity (CGI-S), and the Bush-Francis Catatonia Rating Scale (BFCRS) were used to track clinical symptoms. Eighty-two individuals were enrolled in this study. Patients had lower BFCRS (MD: -6.68; 95% CI: -8.23, -5.14), CGI-S (MD: -1.27; 95% CI: -1.73, -0.81), and NPITS scores (MD: -6.50; 95% CI: -7.53, -5.47) while they were on therapy compared to baseline. Approximately 46% of the patients (n?=?38) experienced neurologic relapse with wean of IVIg. Patients with neurologic relapse were more likely to have any abnormal neurodiagnostic study (?2?=?11.82, P?=?0.001), abnormal MRI (?2?=?7.78, P?=?0.005), and abnormal LP (?2?=?5.45, P?=?0.02), and a personal history of autoimmunity (OR: 6.11, P?

View details for DOI 10.1038/s41398-023-02579-z

View details for PubMedID 37553347

View details for PubMedCentralID 9335003