Acute Regression in Down Syndrome

Date

2021-08-23

Authors

Handen, Benjamin
Clare, Isabel
Laymon, Charles
Petersen, Melissa E.
Zaman, Shahid
O'Bryant, Sid E.
Minhas, Davneet
Tudorascu, Dana
Brown, Stephanie
Christian, Bradley

ORCID

0000-0003-0582-5266 (O'Bryant, Sid E.)
0000-0002-3920-5877 (Petersen, Melissa E.)

Journal Title

Journal ISSN

Volume Title

Publisher

MDPI

Abstract

Acute regression has been reported in some individuals with Down syndrome (DS), typically occurring between the teenage years and mid to late 20s. Characterized by sudden, and often unexplained, reductions in language skills, functional living skills and reduced psychomotor activity, some individuals have been incorrectly diagnosed with Alzheimer's disease (AD).|This paper compares five individuals with DS who previously experienced acute regression with a matched group of 15 unaffected individuals with DS using a set of AD biomarkers.|While the sample was too small to conduct statistical analyses, findings suggest there are possible meaningful differences between the groups on proteomics biomarkers (e.g., NfL, total tau). Hippocampal, caudate and putamen volumes were slightly larger in the regression group, the opposite of what was hypothesized. A slightly lower amyloid load was found on the PET scans for the regression group, but no differences were noted on tau PET.|Some proteomics biomarker findings suggest that individuals with DS who experience acute regression may be at increased risk for AD at an earlier age in comparison to unaffected adults with DS. However, due to the age of the group (mean 38 years), it may be too early to observe meaningful group differences on image-based biomarkers.

Description

Citation

Handen, B., Clare, I., Laymon, C., Petersen, M., Zaman, S., O'Bryant, S., Minhas, D., Tudorascu, D., Brown, S., & Christian, B. (2021). Acute Regression in Down Syndrome. Brain sciences, 11(8), 1109. https://doi.org/10.3390/brainsci11081109

Rights

Copyright © 2021 by the authors.

License

Attribution 4.0 International (CC BY 4.0)