Real-de-Asua, D. (Diego)

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    Takotsubo cardiomyopathy secondary to electroconvulsive therapy in a young adult with Down syndrome regression disorder
    (2024) Ortuño-Sanchez-Pedreño, F. (Felipe); Real-de-Asua, D. (Diego); Bullard, J.P. (José Pablo); Unceta, M.M. (María del Mar); Ortega, M.C. (Maria del Carmen); Molero, P. (Patricio)
    We report the case of an 18-year-old woman with Down syndrome (DS) who developed Takotsubo cardiomyopathy (TSC) immediately after the administration of electroconvulsive therapy (ECT), a treatment prescribed for Down syndrome regression disorder resistant to oral psychotropic drugs. TSC is a nonischemic cardiomyopathy related to psychological or physical stress, which has been described as a rare complication of ECT (Kinoshita et al., 2023, Journal of Electroconvulsive Therapy, 39, 185-192). The clinical description of the case is accompanied by a discussion of the peculiarities of the autonomic nervous system in DS.
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    Immunotherapy responsiveness and risk of relapse in Down syndrome regression disorder
    (2023) Franklin, C. (Cathy); Dwyer, L. (Luke); Boyd, N.K. (Natalie K.); Filipink, R.A. (Robyn A.); Khoshnood, M. (Mellad); Van-Mater, H. (Heather); Sannar, E.A. (Elise A.); Stanley, M.A. (Maria A.); Banerjee, A.K. (Abhik K.); Real-de-Asua, D. (Diego); Manning, M.A. (Melanie A.); Brown, R. (Ruth); Partridge, R. (Rebecca); Jafarpour, S. (Saba); Hayati-Rezvan, P. (Panteha); Ortega, M.C. (Maria del Carmen); Spinazzi, N.A. (Noemi A.); Kammeyer, R. (Ryan); Capone, G.T. (George T.); Patel, L. (Lina); Worley, G. (Gordan); Rafii, M.S. (Michael S.); Christy, A.L. (Alison L.); Quinn, E.A. (Eileen A.); Gombolay, G.Y. (Grace Y.); Santoro, J.D. (Jonathan D.)
    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 (& chi;(2) = 11.82, P = 0.001), abnormal MRI (& chi;(2) = 7.78, P = 0.005), and abnormal LP (& chi;(2) = 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.