Opportunities, barriers, and recommendations in down syndrome research

James A Hendrix; Angelika Amon; Leonard Abbeduto; Stamatis Agiovlasitis; Tarek Alsaied; Heather A Anderson; Lisa J Bain; Nicole Baumer; Anita Bhattacharyya; Dusan Bogunovic; Kelly N Botteron; George Capone; Priya Chandan; Isabelle Chase; Brian Chicoine; Cécile Cieuta-Walti; Lara R DeRuisseau; Sophie Durand; Anna Esbensen; Juan Fortea; Sandra Giménez; Ann-Charlotte Granholm; Laura J Hahn; Elizabeth Head; Hampus Hillerstrom; Lisa M Jacola; Matthew P Janicki; Joan M Jasien; Angela R Kamer; Raymond D Kent; Bernard Khor; Jeanne B Lawrence; Catherine Lemonnier; Amy Feldman Lewanda; William Mobley; Paul E Moore; Linda Pollak Nelson; Nicolas M Oreskovic; Ricardo S Osorio; David Patterson; Sonja A Rasmussen; Roger H Reeves; Nancy Roizen; Stephanie Santoro; Stephanie L Sherman; Nasreen Talib; Ignacio E Tapia; Kyle M Walsh; Steven F Warren; A Nicole White; Guang William Wong; John S Yi

doi:10.3233/trd-200090

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.

Authors

James A Hendrix¹, Angelika Amon², Leonard Abbeduto³, Stamatis Agiovlasitis⁴, Tarek Alsaied⁵, Heather A Anderson⁶, Lisa J Bain⁷, Nicole Baumer⁸, Anita Bhattacharyya^{9

10}, Dusan Bogunovic¹¹, Kelly N Botteron¹², George Capone¹³, Priya Chandan¹⁴, Isabelle Chase¹⁵, Brian Chicoine¹⁶, Cécile Cieuta-Walti¹⁷, Lara R DeRuisseau¹⁸, Sophie Durand¹⁹, Anna Esbensen²⁰, Juan Fortea²¹, Sandra Giménez²², Ann-Charlotte Granholm^{23

24}, Laura J Hahn²⁵, Elizabeth Head²⁶, Hampus Hillerstrom¹, Lisa M Jacola²⁷, Matthew P Janicki²⁸, Joan M Jasien²⁹, Angela R Kamer³⁰, Raymond D Kent⁹, Bernard Khor³¹, Jeanne B Lawrence³², Catherine Lemonnier¹⁹, Amy Feldman Lewanda³³, William Mobley³⁴, Paul E Moore³⁵, Linda Pollak Nelson³⁶, Nicolas M Oreskovic^{37

38}, Ricardo S Osorio³⁹, David Patterson^{23

40}, Sonja A Rasmussen⁴¹, Roger H Reeves⁴², Nancy Roizen⁴³, Stephanie Santoro^{38

44}, Stephanie L Sherman⁴⁵, Nasreen Talib⁴⁶, Ignacio E Tapia⁴⁷, Kyle M Walsh⁴⁸, Steven F Warren⁴⁹, A Nicole White⁵⁰, Guang William Wong^{42

51}, John S Yi⁵²

Affiliations

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 Children s 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 Research, The 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.

Keywords: Alzheimer’s disease; Down syndrome; autism spectrum disorder; autoimmune disease; cognitive development; congenital heart disease; intellectual disability; leukemia; muscle hypotonia; obesity; obstructive sleep apnea; periodontitis.

Abstract

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