2013/03/12 by Michael J. Goodman, Diana Brixner · 1 citation
Medicine · #Down syndrome and intellectual disability research
paper · pdf · doi:10.1002/ajmg.a.35705
openalex publication_date 2013/03/12 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/28
Down syndrome (DS) is the most common genetic cause of cognitive deficits. Using mouse models and therapies for Alzheimer disease, researchers are exploring therapies that may improve cognitive function in people with DS. These developments shift the health economic paradigm of understanding DS from determining the appropriate screening tool to the effect of therapy on quality of life in those with DS. To date, there are no validated quality of life instruments for DS. Research should begin to develop instruments that can evaluate changes in quality of life in therapeutic trials and beyond.