Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2023 Mar 1;36(2):96-103.
doi: 10.1097/YCO.0000000000000845. Epub 2022 Dec 29.

Down syndrome regression disorder: updates and therapeutic advances

Jonathan D Santoro  1   2 , Robyn A Filipink  3   4 , Nicole T Baumer  5   6 , Peter D Bulova  7 , Benjamin L Handen  8
Affiliations
Review

Down syndrome regression disorder: updates and therapeutic advances

Jonathan D Santoro et al. Curr Opin Psychiatry. .

Abstract

Purpose of review: Down syndrome regression disorder (DSRD) is a symptom cluster consisting of neuropsychiatric regression without cause. Although knowledge of this condition has accelerated over the last decade, prior studies have been limited by heterogenous nomenclature, diagnostic approaches and therapeutic interventions. This review highlights recent advances in the diagnosis and clinical approach to DSRD and reviews the most up-to-date literature on therapeutic interventions for this condition.

Recent findings: Several multicentre studies have reported exciting findings on the presence of neurodiagnostic study abnormalities and responses to a variety of therapeutics, including psychotropics (including benzodiazepines), electroconvulsive therapy and immunotherapy. Differential response rates have been observed in the presence and absence of a variety of clinical and diagnostic factors.

Summary: Individuals with DSRD are responsive to a variety of psychiatric pharmacotherapy and immunotherapy underscoring this phenotype may have multiple causes. Multidisciplinary care is helpful in the evaluation and management of individuals with this condition.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

References

    1. Bull MJ. Down syndrome. N Engl J Med 2020; 382:2344–2352.
    1. Rivelli A, Fitzpatrick V, Chaudhari S, et al. Prevalence of mental health conditions among 6078 individuals with Down syndrome in the United States. J Patient Cent Res Rev 2022; 9:58–63.
    1. Tsou AY, Bulova P, Capone G, et al. Medical care of adults with Down syndrome: a clinical guideline. JAMA 2020; 324:1543–1556.
    1. Santoro JD, Patel L, Kammeyer R, et al. Assessment and diagnosis of Down syndrome regression disorder: international expert consensus. Front Neurol 2022; 13:940175.
    1. Rosso M, Fremion E, Santoro SL, et al. Down syndrome disintegrative disorder: a clinical regression syndrome of increasing importance. Pediatrics 2020; 145.