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Neuroimaging abnormalities associated with immunotherapy responsiveness in Down syndrome regression disorder. Annals of clinical and translational neurology Santoro, J. D., Khoshnood, M. M., Jafarpour, S., Nguyen, L., Boyd, N. K., Vogel, B. N., Kammeyer, R., Patel, L., Manning, M. A., Rachubinski, A. L., Filipink, R. A., Baumer, N. T., Santoro, S. L., Franklin, C., Tamrazi, B., Yeom, K. W., Worley, G., Espinosa, J. M., Rafii, M. S. 2024

Abstract

To determine the prevalence of neuroimaging abnormalities in individuals with Down syndrome regression disorder (DSRD) and evaluate if neuroimaging abnormalities were predictive of therapeutic responses.A multicenter, retrospective, case-control study which reviewed neuroimaging studies of individuals with DSRD and compared them to a control cohort of individuals with Down syndrome (DS) alone was performed. Individuals aged 10-30?years and meeting international consensus criteria for DSRD were included. The presence of T1, T2/FLAIR, and SWI signal abnormalities was reviewed. Response rates to various therapies, including immunotherapy, were evaluated in the presence of neuroimaging abnormalities.In total, 74 individuals (35%) had either T2/FLAIR and/or SWI signal abnormality compared to 14 individuals (12%) without DSRD (p?

View details for DOI 10.1002/acn3.52023

View details for PubMedID 38375538