Immunotherapy responsiveness and risk of relapse in Down syndrome regression disorder Article (Faculty180)

cited authors

  • Santoro, Jonathan D; Spinazzi, Noemi A; Filipink, Robyn A; Hayati-Rezvan, Panteha; Kammeyer, Ryan; Patel, Lina; Sannar, Elise A; Dwyer, Luke; Banerjee, Abhi K; Khoshnood, Mellad; Jafarpour, Saba; Boyd, Natalie K; Partridge, Rebecca; Gombolay, Grace Y; Christy, A L; Real de Asua, Diego; Del Carmen Ortega, Maria; Manning, Mel A; Van Mater, Heather; Worley, Gordan; Franklin, Cathy; Stanley, M A; Brown, Ruth; Capone, George T; Quinn, Eileen A; Rafii, Michael S

description

  • 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 = 11.82, P = 0.001), abnormal MRI (χ = 7.78, P = 0.005), and abnormal LP (χ = 5.45, P = 0.02), and a personal history of autoimmunity (OR: 6.11, P < 0.001) compared to patients without relapse. IVIg was highly effective in the treatment of DSRD. Individuals with a history of personal autoimmunity or neurodiagnostic abnormalities were more likely to relapse following weaning of immunotherapy, indicating the potential for, a chronic autoimmune etiology in some cases of DSRD.

authors

publication date

  • 2023

published in

start page

  • 276

volume

  • 13