ArticleTranslational science of rare diseases2021
Opportunities, barriers, and recommendations in down syndrome research.
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Article in Translational science of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers, 4 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
63citing papers in PubMed, 4 pooled it
12.6field-weighted citation impact, top 1% of its field
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
63 citing papers in PubMed, 4 syntheses or guidelines pooled it, 97 citations in OpenAlex.
- AI-guided meta-analysis of non-invasive prenatal testing platforms for trisomy 21 screening: comparative evaluation of cffDNA and fetal cell-based approaches.BMC pregnancy and childbirth · 2026Pooled it
- Cognitive Predictors of Adaptive Behaviour in Children With Down Syndrome: A Systematic Review.Journal of applied research in intellectual disabilities : JARID · 2026Pooled it
- Sex differences in cardiovascular disease and dysregulation in Down syndrome.American journal of physiology. Heart and circulatory physiology · 2023Pooled it
- Association of Alzheimer Disease With Life Expectancy in People With Down Syndrome.JAMA network open · 2022Pooled it
- Clinical considerations for immune dysregulation and immunodeficiency in Down syndrome.Journal of human immunity · 2026Review
- Understanding Physical Activity Demands and Reported Perceptions of Fatigue in Children with Developmental Disabilities.Behavioral sciences (Basel, Switzerland) · 2026Article
- Total and live birth prevalence of singleton pregnancies with Down's syndrome in Scotland between 2000 and 2021: a population-based study.The Lancet regional health. Europe · 2026Article
- Caregiver Concerns for Children and Adolescents With Down Syndrome: A Cross-Sectional Study in Brazil.Child: care, health and development · 2026Article
- Selective chr21 homolog silencing reveals polymorphisms influence the epigenetic silencing and functional dosage of RWDD2B.American journal of human genetics · 2026Article
- Use of anti-amyloid-β monoclonal antibodies in persons with Down syndrome Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Review
- Chromosome engineering to correct a complex rearrangement on Chromosome 8 reveals the effects of 8p syndrome on gene expression and neural differentiation.Genome research · 2026Article
- Evaluating special education services for children with disabilities at Prince Sultan Military Medical City, Riyadh: A retrospective study (2022-2023).Journal of family medicine and primary care · 2026Article
- Challenges and solutions to participation in mental health clinical trials: Count Me In 2.0.BMJ mental health · 2026Article
- Cardiovascular complications in children with Down syndrome and sleep disordered breathing.Paediatric respiratory reviews · 2025Review
- Selective chr21 homolog silencing reveals polymorphisms influence the epigenetic silencing and functional dosage of RWDD2B.bioRxiv : the preprint server for biology · 2025Article
- Article
- A multicenter observational cohort study in survivors of Down Syndrome-associated acute leukemia (ALTE22C1): a report from the Children's Oncology Group.BMC cancer · 2025Observational
- Structural Dynamics and Network Pharmacology for the Discovery of Inhibitors Targeting DYRK1 A in Neurological Disorders.Molecular neurobiology · 2025Article
- Cognitive and Behavioural Associations of Visual and Hearing Impairments Across the Lifespan in People With Down Syndrome, a Scoping Review.Journal of intellectual disability research : JIDR · 2025Article
- Assessing the impact of AI tools on mobility and daily assistance for children with down syndrome in Saudi Arabia.Scientific reports · 2025Article
3 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
52 authors at 20 institutions in 5 countries.
James A HendrixLuMind IDSC Foundation, Burlington, MA, USA.
Angelika AmonDeceased. 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.
Leonard AbbedutoDepartment of Psychiatry and Behavioral Sciences, University of California, Davis, CA, USA; MIND Institute, University of California, Davis, CA, USA.
Stamatis AgiovlasitisDepartment of Kinesiology, Mississippi State University, Mississippi State, MS, USA.
Tarek AlsaiedHeart Institute Department of Pediatrics Cincinnati Children's Hospital Medical Center University of Cincinnati, Cincinnati, OH, USA.
Heather A AndersonThe Ohio State University College of Optometry, Columbus, OH, USA.
Lisa J BainIndependent Science Writer, Elverson, PA, USA.
Nicole BaumerDepartment 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.
Anita BhattacharyyaWaisman Center, University of Wisconsin-Madison, Madison, WI, USA.
Dusan BogunovicDepartment 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.
Kelly N BotteronDepartment of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA; Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, MO, USA.
George CaponeKennedy Krieger Institute, Baltimore, MD, USA.
Priya ChandanDepartment of Neurosurgery, Division of Physical Medicine and Rehabilitation, University of Louisville School of Medicine, Louisville, KY, USA.
Isabelle ChaseDepartment of Pediatric Dentistry, Boston Children's Hospital, Boston, MA, USA.
Brian ChicoineAdvocate Medical Group Adult Down Syndrome Center, Park Ridge, IL, USA.
Cécile Cieuta-WaltiDepartment of Pediatrics, University of Sherbrooke, Quebec, Canada.
Lara R DeRuisseauDepartment of Biological Sciences, Le Moyne College, Syracuse, NY, USA.
Sophie DurandInstitut Jérôme Lejeune, CRB BioJeL, Paris, France.
Anna EsbensenDepartment of Pediatrics, University of Cincinnati College of Medicine & Division of Developmental and Behavioral Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Juan ForteaBarcelona 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.
Sandra GiménezMultidisciplinary Sleep Unit, Respiratory Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Ann-Charlotte GranholmKnoebel Institute for Healthy Aging, University of Denver, Denver, CO, USA.
Laura J HahnDepartment of Speech and Hearing Science, University of Illinois Urbana Champaign, Champaign, IL, USA.
Elizabeth HeadDepartment of Pathology and Laboratory Medicine, UC Irvine School of Medicine, Orange, CA, USA.
Hampus HillerstromLuMind IDSC Foundation, Burlington, MA, USA.
Lisa M JacolaDepartment of Psychology, St Jude Children's Research Hospital, Memphis, TN, USA.
Matthew P JanickiUniversity of Illinois at Chicago, Chicago, IL, USA.
Joan M JasienDivision of Pediatric Neurology, Duke University Health System, Durham, NC, USA.
Angela R KamerDepartment of Periodontology and Implant Dentistry, New York University, College of Dentistry, New York, NY, USA.
Raymond D KentWaisman Center, University of Wisconsin-Madison, Madison, WI, USA.
Bernard KhorBenaroy Research Institute at Virginia Mason, Seattle, WA, USA.
Jeanne B LawrenceDepartment of Neurology, University of Massachusetts Medical School, Worcester, MA, USA; Department of Pediatrics, University of Massachusetts Medical School, Worcester, MA, USA.
Catherine LemonnierInstitut Jérôme Lejeune, CRB BioJeL, Paris, France.
Amy Feldman LewandaChildren s National Rare Disease Institute, Children's National Health System, Washington, DC., USA.
William MobleyDepartment of Neurosciences, University of California, San Diego, CA, USA.
Paul E MooreDivision of Allergy, Immunology, and Pulmonology, Vanderbilt University Medical Center, Nashville, TN, USA; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA.
Linda Pollak NelsonHarvard School of Dental Medicine, Boston, MA, USA.
Nicolas M OreskovicDepartment of Pediatrics, Massachusetts General Hospital, Boston, MA, USA; Department of Internal Medicine, Massachusetts General Hospital, Boston, Mass.
Ricardo S OsorioCenter for Brain Health, Department of Psychiatry, NYU Langone Medical Center, New York, NY, USA.
David PattersonKnoebel Institute for Healthy Aging, University of Denver, Denver, CO, USA.
Sonja A RasmussenDepartment 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.
Roger H ReevesDepartment 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.
Nancy RoizenDepartment of Pediatrics, UH/Rainbow Babies and Children's Hospital and Department of Pediatrics, Case Western Reserve University, Cleveland, OH, USA.
Stephanie SantoroDepartment of Pediatrics, Harvard Medical School, Boston, MA, USA.
Stephanie L ShermanDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Nasreen TalibDivision of General Pediatrics, Children's Mercy Kansas City, 2401 Gillham Road, Kansas City, MO, USA.
Ignacio E TapiaSleep Center, Division of Pulmonary Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Kyle M WalshDivision of Neuro-epidemiology, Department of Neurosurgery, Duke University, Durham, NC, USA.
Steven F WarrenInstitute for Life Span Studies, University of Kansas, Lawrence, KS, USA.
A Nicole WhiteResearch Foundation, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Guang William WongDepartment 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.
John S YiDivision of Surgical Sciences, Department of Surgery, Duke University Medical Center, Durham, NC, USA.
Cincinnati Children's Hospital Medical Center · USHarvard University · USBoston Children's Hospital · USFondation Jérôme-Lejeune · FRJohns Hopkins University · USUniversity of Denver · USUniversity of Wisconsin–Madison · USAdvocate Health Care · USChild Health and Development Institute · USChildren's Hospital of Philadelphia · USChildren's National · USDuke Medical Center · USDuke University · USDuke University Health System · USEmory University · USHospital de Sant Pau · ESHoward Hughes Medical Institute · USKennedy Krieger Institute · USLe Moyne College · USMallinckrodt (United States) · US
Funding
TAU, AB, SYNUCLEIN AND NITRATIVE/OXIDATIVE DAMAGE IN MCIP01AG014449 · NIA · UNIVERSITY OF PITTSBURGH · PI IKONOMOVIC, MILOS D · 1997 to 2024
$39.7MResearch Education ComponentP30AG066512 · NIA · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI Mary Sherman Mittelman · 2020 to 2026
$28.4MRNA and Genomic Junk in Fundamental Chromosome Architecture and RegulationR35GM122597 · NIGMS · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI JEANNE Bentley LAWRENCE · 2017 to 2026
$5.3MMouse Neurodevelopmental Behavior CoreU54HD090255 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI SAHIN, MUSTAFA · 2016 to 2020
$5.2MA Novel Approach to Molecular Cell Pathologies of Human Down Syndrome and DS-ADR01HD091357 · NICHD · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI JEANNE Bentley LAWRENCE · 2017 to 2026
$4.5MTranslational Epigenetics with XIST: Silencing Trisomy in Human Organoid and Mouse Models of Down SyndromeR01HD094788 · NICHD · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI LAWRENCE, JEANNE BENTLEY · 2018 to 2022
$2.8MIntroducing Cellular Aging in Human iPS Cells to Investigate Alzheimer PathogenesisRF1AG056302 · NIA · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI LAWRENCE, JEANNE BENTLEY, ZHANG, HONG · 2017 to 2019
$2.2MHeart and vascular responses across the lifespan in Ts65Dn mice, a model of Down syndromeR21HD099573 · NICHD · SYRACUSE UNIVERSITY · PI DERUISSEAU, LARA ROBERTS · 2020 to 2021
$777kInvestigation into neural and muscular components of breathing in Down SyndromeR15HD076379 · NICHD · LE MOYNE COLLEGE · PI DERUISSEAU, LARA ROBERTS · 2016 to 2018
$591kNIA NIH HHS P01 AG014449NIA NIH HHS P30 AG066512NICHD NIH HHS R01 HD091357NICHD NIH HHS R01 HD094788NICHD NIH HHS R15 HD076379NICHD NIH HHS R21 HD099573NICHD NIH HHS U54 HD090255
Abstract
backgroundRecent 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.
objectiveThe 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.
methodsNDSS 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.
resultsThis 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.
conclusionsThis 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.
Indexed as
Alzheimer’s diseaseautism spectrum disorderautoimmune diseasecognitive developmentcongenital heart diseaseDown syndromeintellectual disabilityleukemiamuscle hypotoniaobesityobstructive sleep apneaperiodontitis
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.