Background: Down Syndrome Regression Disorder (DSRD) is a disorder associated with acute and unexplained regression in adolescents and young adults with Down syndrome. The regression includes a decline in speech, social withdrawal and functional decline, and is usually accompanied by catatonia. 

Methods: This presentation will review the current literature, in relation to theories of aetiology, recently defined consensus diagnostic criteria, suggested investigations and treatments. 

Results: DSRD is a devastating condition and if unrecognised and untreated is also disabling. It was first described in the early 1900’s, but interest has grown in recent years, to the point where patterns of common presentation and psychiatric and immunologic treatments have been described. The gaps in the current knowledge base and the various barriers to access to healthcare experienced by people with this condition will also be described.

Conclusion: The clinical presentation of DSRD, including catatonia and its other clinical manifestations have been defined.  There is emerging evidence to support a variety of treatments, including treatments for catatonia and intravenous immunogloubulin. Further research into prevalence, biomarkers and effective treatments is needed. 

Keywords: Down syndrome, regression, catatonia