The aetiology of atypical bone health in individuals with Down syndrome.

Purpose: Trisomy 21 (T21), more commonly known as Down syndrome (DS) is a genetic condition where every cell in the body has an additional copy of chromosome 21. Despite improvements in our management of DS-associated health risks, we still do not understand how T21 impacts human bone health. This is a critical area of research owing to increased life expectancy of people with DS, and the predisposition of individuals with DS to early-onset osteoporosis and osteopenia.

Methods: We have conducted a scoping review using the methodological framework of Arksey and O'Malley (2005) which analysed the existing data on bone growth, development, maintenance and repair in T21 using the Medical Subject Headings (MeSH) terms: Trisomy 21, Down syndrome, Down's syndrome, bone development, bone growth, bone maintenance, fracture risk, osteoporosis, bone mineral density, bone strength, bone mineral content, bone formation, bone repair, osteoblast, osteoclast, osteocyte, osteomacs. A total of 31 papers were identified. After screening, 16 articles were included in full-text review.

Results: There was a total of eleven in vivo animal model studies identified and included in the scoping review. Of those eleven, ten revealed a difference in bone growth and development in animal models of DS, and two found that bone maintenance and repair in animal models of DS is reduced with both studies reporting an osteoporotic bone phenotype in male and female mice. All five studies that included human participants reported impacts on bone growth and development with reduced bone growth rates and delayed bone maturation in individuals with DS. At the time of review, there were no human studies directly investigating bone maintenance and repair in individuals with DS.

Conclusion: We found documented evidence that T21 impacts bone growth and development, maintenance and repair in both animal models and human studies.