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. Mattie; 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; G. William Wong; John S. Yi

doi:10.3233/TRD-200090

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 ForteaSandra Giménez, Ann Charlotte Granholm, Laura J. Mattie, 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, G. William Wong, John S. Yi

Periodontology and Implant Dentistry

Research output: Contribution to journal › Article › peer-review

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.

Original language	English (US)
Pages (from-to)	99-129
Number of pages	31
Journal	Translational Science of Rare Diseases
Volume	5
Issue number	3-4
DOIs	https://doi.org/10.3233/TRD-200090
State	Published - 2020

Keywords

Down syndrome
and Alzheimer's disease
autism spectrum disorder
autoimmune disease
cognitive development
congenital heart disease
intellectual disability
leukemia
muscle hypotonia
obesity
obstructive sleep apnea
periodontitis

ASJC Scopus subject areas

General Medicine

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10.3233/TRD-200090

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Hendrix, J. A., Amon, A., Abbeduto, L., Agiovlasitis, S., Alsaied, T., Anderson, H. A., Bain, L. J., Baumer, N., Bhattacharyya, A., Bogunovic, D., Botteron, K. N., Capone, G., Chandan, P., Chase, I., Chicoine, B., Cieuta-Walti, C., Deruisseau, L. R., Durand, S., Esbensen, A., ... Yi, J. S. (2020). Opportunities, barriers, and recommendations in down syndrome research. Translational Science of Rare Diseases, 5(3-4), 99-129. https://doi.org/10.3233/TRD-200090

Hendrix, JA, Amon, A, Abbeduto, L, Agiovlasitis, S, Alsaied, T, Anderson, HA, Bain, LJ, Baumer, N, Bhattacharyya, A, Bogunovic, D, Botteron, KN, Capone, G, Chandan, P, Chase, I, Chicoine, B, Cieuta-Walti, C, Deruisseau, LR, Durand, S, Esbensen, A, Fortea, J, Giménez, S, Granholm, AC, Mattie, LJ, Head, E, Hillerstrom, H, Jacola, LM, Janicki, MP, Jasien, JM, Kamer, AR, Kent, RD, Khor, B, Lawrence, JB, Lemonnier, C, Lewanda, AF, Mobley, W, Moore, PE, Nelson, LP, Oreskovic, NM, Osorio, RS, Patterson, D, Rasmussen, SA, Reeves, RH, Roizen, N, Santoro, S, Sherman, SL, Talib, N, Tapia, IE, Walsh, KM, Warren, SF, White, AN, Wong, GW & Yi, JS 2020, 'Opportunities, barriers, and recommendations in down syndrome research', Translational Science of Rare Diseases, vol. 5, no. 3-4, pp. 99-129. https://doi.org/10.3233/TRD-200090

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title = "Opportunities, barriers, and recommendations in down syndrome research",

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 = "Down syndrome, and Alzheimer's disease, autism spectrum disorder, autoimmune disease, cognitive development, congenital heart disease, intellectual disability, leukemia, muscle hypotonia, obesity, obstructive sleep apnea, periodontitis",

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

note = "Publisher Copyright: {\textcopyright} 2020-The authors. Published by IOS Press.",

year = "2020",

doi = "10.3233/TRD-200090",

language = "English (US)",

volume = "5",

pages = "99--129",

journal = "Translational Science of Rare Diseases",

issn = "2214-6490",

publisher = "IOS Press BV",

number = "3-4",

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TY - JOUR

T1 - Opportunities, barriers, and recommendations in down syndrome research

AU - Hendrix, James A.

AU - Amon, Angelika

AU - Abbeduto, Leonard

AU - Agiovlasitis, Stamatis

AU - Alsaied, Tarek

AU - Anderson, Heather A.

AU - Bain, Lisa J.

AU - Baumer, Nicole

AU - Bhattacharyya, Anita

AU - Bogunovic, Dusan

AU - Botteron, Kelly N.

AU - Capone, George

AU - Chandan, Priya

AU - Chase, Isabelle

AU - Chicoine, Brian

AU - Cieuta-Walti, Cécile

AU - Deruisseau, Lara R.

AU - Durand, Sophie

AU - Esbensen, Anna

AU - Fortea, Juan

AU - Giménez, Sandra

AU - Granholm, Ann Charlotte

AU - Mattie, Laura J.

AU - Head, Elizabeth

AU - Hillerstrom, Hampus

AU - Jacola, Lisa M.

AU - Janicki, Matthew P.

AU - Jasien, Joan M.

AU - Kamer, Angela R.

AU - Kent, Raymond D.

AU - Khor, Bernard

AU - Lawrence, Jeanne B.

AU - Lemonnier, Catherine

AU - Lewanda, Amy Feldman

AU - Mobley, William

AU - Moore, Paul E.

AU - Nelson, Linda Pollak

AU - Oreskovic, Nicolas M.

AU - Osorio, Ricardo S.

AU - Patterson, David

AU - Rasmussen, Sonja A.

AU - Reeves, Roger H.

AU - Roizen, Nancy

AU - Santoro, Stephanie

AU - Sherman, Stephanie L.

AU - Talib, Nasreen

AU - Tapia, Ignacio E.

AU - Walsh, Kyle M.

AU - Warren, Steven F.

AU - White, A. Nicole

AU - Wong, G. William

AU - Yi, John S.

PY - 2020

Y1 - 2020

N2 - 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.

AB - 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.

KW - Down syndrome

KW - and Alzheimer's disease

KW - autism spectrum disorder

KW - autoimmune disease

KW - cognitive development

KW - congenital heart disease

KW - intellectual disability

KW - leukemia

KW - muscle hypotonia

KW - obesity

KW - obstructive sleep apnea

KW - periodontitis

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U2 - 10.3233/TRD-200090

DO - 10.3233/TRD-200090

M3 - Article

AN - SCOPUS:85104417388

SN - 2214-6490

VL - 5

SP - 99

EP - 129

JO - Translational Science of Rare Diseases

JF - Translational Science of Rare Diseases

IS - 3-4

ER -

Opportunities, barriers, and recommendations in down syndrome research

Abstract

Keywords

ASJC Scopus subject areas

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