Publicaciones científicas
Immunotherapy responsiveness and risk of relapse in Down syndrome regression disorder
Jonathan D Santoro 1 2 , Noemi A Spinazzi 3 , Robyn A Filipink 4 , Panteha Hayati-Rezvan 5 , Ryan Kammeyer 6 , Lina Patel 7 , Elise A Sannar 7 , Luke Dwyer 8 , Abhik K Banerjee 9 , Mellad Khoshnood 9 , Saba Jafarpour 9 , Natalie K Boyd 9 , Rebecca Partridge 10 , Grace Y Gombolay 11 , Alison L Christy 12 , Diego Real de Asua 13 , Maria Del Carmen Ortega 14 , Melanie A Manning 15 , Heather Van Mater 16 , Gordan Worley 17 , Cathy Franklin 18 , Maria A Stanley 19 , Ruth Brown 20 , George T Capone 21 , Eileen A Quinn 22 , Michael S Rafii 23 24
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 (χ2 = 11.82, P = 0.001), abnormal MRI (χ2 = 7.78, P = 0.005), and abnormal LP (χ2 = 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.
CITA DEL ARTÍCULO Transl Psychiatry. 2023 Aug 8;13(1):276. doi: 10.1038/s41398-023-02579-z
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