Immunotherapy responsiveness and risk of relapse in Down syndrome regression disorder.
Humans; Down Syndrome; Immunoglobulins, Intravenous; Prospective Studies; Immunotherapy; Recurrence
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 (χ
Neurosciences (Brain & Spine)
Women & Children
Santoro, Jonathan D; Spinazzi, Noemi A; Filipink, Robyn A; Hayati-Rezvan, Panteha; Kammeyer, Ryan; Patel, Lina; Sannar, Elise A; Dwyer, Luke; Banerjee, Abhik K; Khoshnood, Mellad; Jafarpour, Saba; Boyd, Natalie K; Partridge, Rebecca; Gombolay, Grace Y; Christy, Alison; Real de Asua, Diego; Del Carmen Ortega, Maria; Manning, Melanie A; Van Mater, Heather; Worley, Gordan; Franklin, Cathy; Stanley, Maria A; Brown, Ruth; Capone, George T; Quinn, Eileen A; and Rafii, Michael S, "Immunotherapy responsiveness and risk of relapse in Down syndrome regression disorder." (2023). Articles, Abstracts, and Reports. 7761.