Opportunities, barriers, and recommendations in down syndrome research.
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
Journal
Translational science of rare diseases
ISSN: 2214-6490
Titre abrégé: Transl Sci Rare Dis
Pays: Netherlands
ID NLM: 101695348
Informations de publication
Date de publication:
2021
2021
Historique:
entrez:
16
7
2021
pubmed:
17
7
2021
medline:
17
7
2021
Statut:
ppublish
Résumé
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.
Sections du résumé
BACKGROUND
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
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
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
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
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.
Identifiants
pubmed: 34268067
doi: 10.3233/trd-200090
pmc: PMC8279178
mid: NIHMS1693350
doi:
Types de publication
Journal Article
Langues
eng
Pagination
99-129Subventions
Organisme : NICHD NIH HHS
ID : R01 HD091357
Pays : United States
Organisme : NIA NIH HHS
ID : P30 AG066512
Pays : United States
Organisme : NICHD NIH HHS
ID : R01 HD094788
Pays : United States
Organisme : NICHD NIH HHS
ID : U54 HD090255
Pays : United States
Organisme : NICHD NIH HHS
ID : R21 HD099573
Pays : United States
Organisme : NIA NIH HHS
ID : RF1 AG061566
Pays : United States
Organisme : NICHD NIH HHS
ID : R15 HD076379
Pays : United States
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