Individuals with Down syndrome are at risk of developing Down syndrome disintegrative disorder (DSDD), previously termed as “catatonic psychosis,” when it was first described way back in 1946. In an article published in the journal Pediatrics, Rosso et al have described it as a condition with “loss of previously acquired adaptive, cognitive, and social functioning in persons with DS usually in adolescence to early adulthood”.¹ To put it simply, the individuals lose many of their developmental milestones with inability to carry out activities of daily living such as dressing themselves, eating meals, using the washroom etc. The symptoms as reported include new-onset insomnia, social withdrawal, autistic-like regression, mutism and catatonia.¹ It has often been erroneously diagnosed as a late-onset autism or early-onset Alzheimers disease in persons with Down syndrome. The etiology is ill-understood although an immune pathology is suspected as a likely cause; hence, there is a lack of effective therapies.

Researchers from Childrens Hospital Los Angeles, Children’s Hospital Colorado and the University of Colorado have collaborated on the first clinical trial to investigate potential treatment for individuals with this rare disorder. The trial to be conducted over a period of 5 years is supported by the Eunice Kennedy Shriver National Institute for Child Health and Human Development, National Institutes of Health (NIH).^2,3

The trial involving 60 patients is being conducted at Childrens Hospital Los Angeles and Children’s Hospital Colorado. It will study the safety and efficacy of three therapies: Lorazepam (an anti-anxiety benzodiazepine), intravenous immunoglobulin (IVIg) and the Janus kinase (JAK) inhibitor tofacitinib.

Sources

1. Rosso M, et al. Down Syndrome disintegrative disorder: a clinical regression syndrome of increasing importance. Pediatrics. 2020 Jun;145(6):e20192939. doi: 10.1542/peds.2019-2939.
2. https://www.news-medical.net/news/20230123/CHLA-launches-first-clinical-trial-for-Down-syndrome-regression-disorder-with-2453-million-NIH-grant.aspx. Available at: January 23, 2023. Accessed on March 20, 2023.
3. https://www.globaldownsyndrome.org/new-nih-funded-study-will-investigate-a-debilitating-condition-known-as-down-syndrome-regression-disorder-dsrd/. Available at: Sept. 29, 2022. Accessed on March 20, 2023.