2026-04-13T06:56:49Zhttps://recercat.cat/oai/request

oai:recercat.cat:2072/4569752025-12-10T14:36:04Zcom_2072_98col_2072_378192

Opportunities, barriers, and recommendations in down syndrome research Hendrix, James A. Amon, Angelika Abbeduto, Leonard Agiovlasitis, Stamatis Alsaied, Tarek Anderson, Heather A. Bain, Lisa J. Baumer, Nicole Bhattacharyya, Anita Bogunovic, Dusan Botteron, Kelly N. Capone, George Chandan, Priya Chase, Isabelle Chicoine, Brian Cieuta-Walti, Cécile DeRuisseau, Lara R. Durand, Sophie Esbensen, Anna Fortea, Juan Giménez, Sandra Granholm, Ann-Charlotte Hahn, Laura J. Head, Elizabeth Hillerstrom, Hampus Jacola, Lisa M. Janicki, Matthew P. Jasien, Joan M. Kamer, Angela R. Kent, Raymond D. Khor, Bernard Lawrence, Jeanne B. Lemonnier, Catherine Lewanda, Amy Feldman Mobley, William Moore, Paul E. Nelson, Linda Pollak Oreskovic, Nicolas M. Osorio, Ricardo S. Patterson, David Rasmussen, Sonja A. Reeves, Roger H. Roizen, Nancy Santoro, Stephanie Sherman, Stephanie L. Talib, Nasreen Tapia, Ignacio E. Walsh, Kyle M. Warren, Steven F. White, A. Nicole Wong, Guang William Yi, John S. Universitat Autònoma de Barcelona Down syndrome Intellectual disability Cognitive development Autism spectrum disorder Obstructive sleep apnea Congenital heart disease Obesity Muscle hypotonia Leukemia Autoimmune disease Periodontitis Alzheimer's disease 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. 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. 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. 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. 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. 2021 Article Translational science of rare diseases ; Vol. 5 (april 2021), p. 99-129 open access Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. https://creativecommons.org/licenses/by-nc/4.0/