Opportunities, barriers, and recommendations in down syndrome research
Hendrix JA, Amon A, Abbeduto L, Agiovlasitis S, Alsaied T, Anderson HA, Bain LJ, Baumer N, Bhattacharyya A, Bogunovic D, Botteron KN, Capone G, Chandan P, Chase I, Chicoine B, Cieuta-Walti C, DeRuisseau LR, Durand S, Esbensen A, Fortea J, Giménez S, Granholm AC, Hahn LJ, Head E, Hillerstrom H, Jacola LM, Janicki MP, Jasien JM, Kamer AR, Kent RD, Khor B, Lawrence JB, Lemonnier C, Lewanda AF, Mobley W, Moore PE, Nelson LP, Oreskovic NM, Osorio RS, Patterson D, Rasmussen SA, Reeves RH, Roizen N, Santoro S, Sherman SL, Talib N, Tapia IE, Walsh KM, Warren SF, White AN, Wong GW, Yi JS. Opportunities, barriers, and recommendations in down syndrome research. Transl Sci Rare Dis. 2021;5(3-4):99-129. doi: 10.3233/trd-200090. Epub 2021 Apr 15. PMID: 34268067; PMCID: PMC8279178
BACKGROUND: Recent advances in medical care have increased life expectancy and improved the quality of life for people with Down syndrome (DS). These advances are the result of both pre-clinical and clinical research but much about DS is still poorly understood. In 2020, the NIH announced their plan to update their DS research plan and requested input from the scientific and advocacy community.
OBJECTIVE: The National Down Syndrome Society (NDSS) and the LuMind IDSC Foundation worked together with scientific and medical experts to develop recommendations for the NIH research plan.
METHODS: NDSS and LuMind IDSC assembled over 50 experts across multiple disciplines and organized them in eleven working groups focused on specific issues for people with DS.
RESULTS: This review article summarizes the research gaps and recommendations that have the potential to improve the health and quality of life for people with DS within the next decade.
CONCLUSIONS: This review highlights many of the scientific gaps that exist in DS research. Based on these gaps, a multidisciplinary group of DS experts has made recommendations to advance DS research. This paper may also aid policymakers and the DS community to build a comprehensive national DS research strategy.