| Autor: |
Santoro, Jonathan D., Jafarpour, Saba, Keehan, Laura, Khoshnood, Mellad M., Kazerooni, Lilia, Boyd, Natalie K., Vogel, Benjamin N., Nguyen, Lina, Manning, Melanie, Nagesh, Deepti, Spinazzi, Noemi A., Besterman, Aaron D., Quinn, Eileen A., Rafii, Michael S. |
| Zdroj: |
Scientific Reports; 12/28/2024, Vol. 14 Issue 1, p1-11, 11p |
| Abstrakt: |
Introduction: Down Syndrome Regression Disorder (DSRD) is a neuropsychiatric condition causing insomnia, catatonia, encephalopathy, and obsessive-compulsive behavior in otherwise healthy individuals with Down syndrome (DS). Smaller cohorts have identified heterogenous diagnostic abnormalities which have predicted immunotherapy responsiveness although pattern analysis in a large cohort has never been performed. Methods: A multi-center, retrospective study of individuals with DSRD was performed. Individuals met international consensus criteria for DRSD and were aged 10–30 years. Clinical, demographic, and diagnostic data was extracted for all individuals. Serum studies were compared to a group of individuals with DS only. Results: A total of 164 individuals with DSRD were identified. Individuals with DSRD were more likely to have a positive antinuclear antibody, low complement 3, abnormal cytokines, and elevated ferritin levels. In a minority of individuals, EEG (30%), MRI (33%) and cerebrospinal fluid (CSF) (21%) were abnormal. Individuals with CSF abnormalities demonstrated greater disease severity at diagnosis on the BFCRS and NPI-Q (p = 0.02 and p < 0.001). Abnormalities in cytokines (p = 0.03), neuroimaging (p < 0.001), and CSF (p = 0.02) were predictive of immunotherapy responsiveness. When MRI and LP were both abnormal or when EEG, MRI and LP were all abnormal, the odds of immunotherapy responsiveness approached 100% (p = 0.01, 95%CI: 1.75–105.1, OR: 13.56 and p = 0.02, 95%CI: 1.37–86.87, OR: 10.91, respectively). Conclusions: In a population of individuals diagnosed with DSRD, abnormalities in serum cytokine levels, neuroimaging findings, and CSF analysis emerged as indicators of disease severity and responsiveness to immunotherapy. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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