1. Diagnostic abnormalities, disease severity and immunotherapy responsiveness in individuals with Down syndrome regression disorder.
- Author
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Santoro, Jonathan, Jafarpour, Saba, Keehan, Laura, Khoshnood, Mellad, Kazerooni, Lilia, Boyd, Natalie, Vogel, Benjamin, Nguyen, Lina, Manning, Melanie, Nagesh, Deepti, Spinazzi, Noemi, Besterman, Aaron, Quinn, Eileen, and Rafii, Michael
- Subjects
CSF ,Cytokine ,Diagnostic ,Down syndrome ,Regression ,Serum ,Humans ,Down Syndrome ,Male ,Female ,Adolescent ,Child ,Adult ,Immunotherapy ,Retrospective Studies ,Young Adult ,Severity of Illness Index ,Cytokines ,Magnetic Resonance Imaging - Abstract
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
- Published
- 2024