Santoro, Jonathan D; Silverman, Mackenzie; Kazerooni, Lilia; Otey, Samuel T; Lucas, Maeve C; Yousuf, Mariam M; Koshnood, Mellad M; Spinazzi, Noemi A; Quinn, Eileen A; Franklin, Catherine; Liu, Taryn R; Jeste, Shafali S; Rafii, Michael S
description
Neuropsychiatric regression in individuals with Down syndrome (DS), termed Down Syndrome Regression Disorder (DSRD), has been reported to occur in the 2nd and 3rd decade of life. Symptoms of DSRD include acute onset of encephalopathy, catatonia, hallucinations, obsessive compulsive tendencies and "new autistic" features. To determine whether abnormalities in folate transport and/or metabolism may play a role in the pathogenesis of this disorder, studies explored whether abnormalities in serum, red blood cell (RBC), or cerebrospinal fluid (CSF) 5-methyltetrahydrofolate (5-MTHF) are associated with DSRD.
