Hendrix, James AAmon, AngelikaAbbeduto, LeonardAgiovlasitis, StamatisAlsaied, TarekAnderson, Heather ABain, Lisa JBaumer, NicoleBhattacharyya, AnitaBogunovic, DusanBotteron, Kelly NCapone, GeorgeChandan, PriyaChase, IsabelleChicoine, BrianCieuta-Walti, CécileDeRuisseau, Lara RDurand, SophieEsbensen, AnnaFortea, JuanGiménez, SandraGranholm, Ann-CharlotteHahn, Laura JHead, ElizabethHillerstrom, HampusJacola, Lisa MJanicki, Matthew PJasien, Joan MKamer, Angela RKent, Raymond DKhor, BernardLawrence, Jeanne BLemonnier, CatherineLewanda, Amy FeldmanMobley, WilliamMoore, Paul ENelson, Linda PollakOreskovic, Nicolas MOsorio, Ricardo SPatterson, DavidRasmussen, Sonja AReeves, Roger HRoizen, NancySantoro, StephanieSherman, Stephanie LTalib, NasreenTapia, Ignacio EWalsh, Kyle MWarren, Steven FWhite, A NicoleWong, Guang WilliamYi, John S
Summary
Advancements in medical care have increased life expectancy and improved the quality of life for people with Down syndrome (DS) in recent years due to lab-based and clinical research. In 2020, the NIH announced their plan to update their DS research plan and requested input from scientists and advocates. With this input, the NIH formed multidisciplinary groups to discuss 11 key areas of DS study, identify gaps in research, and create recommendations for research moving forward. It is the author’s hope that this report will aid policymakers and the DS community in building a comprehensive national DS research strategy.
Abstract
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.
Conditions
Alzheimer Disease, Autism Spectrum Disorder, Autoimmune Diseases, Heart Diseases, Intellectual Disability, Leukemia, Muscle Hypotonia, Obesity, Periodontitis, Sleep Apnea, Obstructive