Santoro et al. Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database. Genetics in Medicine, 2020

This study involved 7 Down syndrome specialty clinics around the globe (including Italy and Australia). From this collaboration, we found:

  • An unexplained regression is occurring in patients with Down syndrome, which is distinctive from autism and Alzheimer’s disease
  • Through this international consortium, 35 cases were pooled.  Symptoms and clinical work-up was analyzed and compared to asymptomatic control with Down syndrome.
  • The take home: our clinic consortium has a proposed definition of what constitutes this new regression entity.  The supplementary materials offer a scoring system.

Our own group in Massachusetts, the MGH Down Syndrome Program, is actively following about a dozen patients with this condition. Our international group continues to collect cases, and is now following up on management which does (or does not) improve symptoms for these patients.  Any interested sites can contact Dr. Stephanie Santoro at ssantoro3@mgh.harvard.edu to learn how they can join the clinical group to share cases or ask questions.
For those interested in more details, you can read the full paper at https://www.ncbi.nlm.nih.gov/pubmed/31767984