Opportunities, barriers, and recommendations in Down syndrome research

Author:

Hendrix James A.1,Amon Angelika2,Abbeduto Leonard3,Agiovlasitis Stamatis4,Alsaied Tarek5,Anderson Heather A.6,Bain Lisa J.7,Baumer Nicole8,Bhattacharyya Anita910,Bogunovic Dusan11,Botteron Kelly N.12,Capone George13,Chandan Priya14,Chase Isabelle15,Chicoine Brian16,Cieuta-Walti Cécile17,DeRuisseau Lara R.18,Durand Sophie19,Esbensen Anna20,Fortea Juan21,Giménez Sandra22,Granholm Ann-Charlotte2324,Mattie Laura J.25,Head Elizabeth26,Hillerstrom Hampus1,Jacola Lisa M.27,Janicki Matthew P.28,Jasien Joan M.29,Kamer Angela R.30,Kent Raymond D.9,Khor Bernard31,Lawrence Jeanne B.32,Lemonnier Catherine19,Lewanda Amy Feldman33,Mobley William34,Moore Paul E.35,Nelson Linda Pollak36,Oreskovic Nicolas M.3738,Osorio Ricardo S.39,Patterson David2340,Rasmussen Sonja A.41,Reeves Roger H.42,Roizen Nancy43,Santoro Stephanie3844,Sherman Stephanie L.45,Talib Nasreen46,Tapia Ignacio E.47,Walsh Kyle M.48,Warren Steven F.49,White A. Nicole50,Wong G. William4251,Yi John S.52

Affiliation:

1. LuMind IDSC Foundation, Burlington, MA, USA

2. Deceased. Koch Institute for Integrative Cancer Research, Massachusetts Institute of Technology, Cambridge, MA, USA; Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, USA; Howard Hughes Medical Institute, Chevy Chase, MD, USA

3. Department of Psychiatry and Behavioral Sciences, University of California, Davis, CA, USA; MIND Institute, University of California, Davis, CA, USA

4. Department of Kinesiology, Mississippi State University, Mississippi State, MS, USA

5. Heart Institute Department of Pediatrics Cincinnati Children’s Hospital Medical Center University of Cincinnati, Cincinnati, OH, USA

6. The Ohio State University College of Optometry, Columbus, OH, USA

7. Independent Science Writer, Elverson, PA, USA

8. Department of Neurology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA; Down Syndrome Program, Developmental Medicine Center, Boston Children’s Hospital, Boston, MA, USA

9. Waisman Center, University of Wisconsin-Madison, Madison, WI, USA

10. Department of Cell and Regenerative Biology, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, USA

11. Department of Microbiology, Icahn School of Medicine at Mt. Sinai, New York, NY, USA; Department of Pediatrics, Icahn School of Medicine at Mt. Sinai, New York, NY; Precision Immunology Institute, Icahn School of Medicine at Mt. Sinai, New York, NY, USA; Mindich Child Health and Development Institute, Icahn School of Medicine at Mt. Sinai, New York, NY, USA

12. Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA; Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, MO, USA

13. Kennedy Krieger Institute, Baltimore, MD, USA

14. Department of Neurosurgery, Division of Physical Medicine and Rehabilitation, University of Louisville School of Medicine, Louisville, KY, USA

15. Department of Pediatric Dentistry, Boston Children’s Hospital, Boston, MA, USA

16. Advocate Medical Group Adult Down Syndrome Center, Park Ridge, IL, USA

17. Department of Pediatrics, University of Sherbrooke, Quebec, Canada

18. Department of Biological Sciences, Le Moyne College, Syracuse, NY, USA

19. Institut Jérôme Lejeune, CRB BioJeL, Paris, France

20. Department of Pediatrics, University of Cincinnati College of Medicine & Division of Developmental and Behavioral Pediatrics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA

21. Barcelona Down Medical Center, Fundació Catalana de Síndrome de Down, Barcelona, Spain; Sant Pau Memory Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain; Center of Biomedical Investigation Network for Neurodegenerative Diseases, Madrid, Spain

22. Multidisciplinary Sleep Unit, Respiratory Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain

23. Knoebel Institute for Healthy Aging, University of Denver, Denver, CO, USA

24. Department of Neurobiology, Care Sciences and Society (NVS), Karolinska Institutet, Stockholm, Sweden

25. Department of Speech and Hearing Science, University of Illinois Urbana Champaign, Champaign, IL, USA

26. Department of Pathology and Laboratory Medicine, UC Irvine School of Medicine, Orange, CA, USA

27. Department of Psychology, St Jude Children’s Research Hospital, Memphis, TN, USA

28. University of Illinois at Chicago, Chicago, IL, USA

29. Division of Pediatric Neurology, Duke University Health System, Durham, NC, USA

30. Department of Periodontology and Implant Dentistry, New York University, College of Dentistry, New York, NY, USA

31. Benaroy Research Institute at Virginia Mason, Seattle, WA, USA

32. Department of Neurology, University of Massachusetts Medical School, Worcester, MA, USA; Department of Pediatrics, University of Massachusetts Medical School, Worcester, MA, USA

33. Childrens National Rare Disease Institute, Children’s National Health System, Washington, DC., USA

34. Department of Neurosciences, University of California, San Diego, CA, USA

35. Division of Allergy, Immunology, and Pulmonology, Vanderbilt University Medical Center, Nashville, TN, USA; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA

36. Harvard School of Dental Medicine, Boston, MA, USA

37. Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA; Department of Internal Medicine, Massachusetts General Hospital, Boston, Mass

38. Department of Pediatrics, Harvard Medical School, Boston, MA, USA

39. Center for Brain Health, Department of Psychiatry, NYU Langone Medical Center, New York, NY, USA

40. Eleanor Roosevelt Institute, University of Denver, Denver, CO, USA; Department of Biological Sciences, University of Denver, Denver, CO, USA; Molecular and Cellular Biophysics Program, University of Denver, Denver, CO, USA

41. Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL; Department of Epidemiology, University of Florida College of Public Health and Health Professions and College of Medicine, Gainesville, FL

42. Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA

43. Department of Pediatrics, UH/Rainbow Babies and Children’s Hospital and Department of Pediatrics, Case Western Reserve University, Cleveland, OH, USA

44. Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA

45. Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA

46. Division of General Pediatrics, Children’s Mercy Kansas City, 2401 Gillham Road, Kansas City, MO, USA

47. Sleep Center, Division of Pulmonary Medicine, Children’s Hospital of Philadelphia, Philadelphia, PA, USA

48. Division of Neuro-epidemiology, Department of Neurosurgery, Duke University, Durham, NC, USA

49. Institute for Life Span Studies, University of Kansas, Lawrence, KS, USA

50. Research Foundation, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA

51. Center for Metabolism and Obesity ResearchThe Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

52. Division of Surgical Sciences, Department of Surgery, Duke University Medical Center, Durham, NC, USA

Abstract

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.

Publisher

IOS Press

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