Down Syndrome
"Down Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
Descriptor ID |
D004314
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MeSH Number(s) |
C10.597.606.643.220 C16.131.077.327 C16.131.260.260 C16.320.180.260
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Concept/Terms |
Down Syndrome- Down Syndrome
- Syndrome, Down
- Mongolism
- Trisomy 21
- 47,XX,+21
- 47,XY,+21
- Down's Syndrome
- Downs Syndrome
- Syndrome, Down's
- Trisomy G
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Below are MeSH descriptors whose meaning is more general than "Down Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Down Syndrome".
This graph shows the total number of publications written about "Down Syndrome" by people in this website by year, and whether "Down Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
Year | Major Topic | Minor Topic | Total |
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2004 | 2 | 0 | 2 | 2005 | 1 | 0 | 1 | 2006 | 1 | 0 | 1 | 2008 | 1 | 0 | 1 | 2011 | 1 | 0 | 1 | 2012 | 1 | 0 | 1 | 2016 | 0 | 1 | 1 | 2017 | 1 | 0 | 1 | 2019 | 1 | 0 | 1 | 2021 | 1 | 0 | 1 | 2022 | 2 | 0 | 2 |
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Below are the most recent publications written about "Down Syndrome" by people in Profiles.
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Shields RH, Kaat A, Sansone SM, Michalak C, Coleman J, Thompson T, McKenzie FJ, Dakopolos A, Riley K, Berry-Kravis E, Widaman KF, Gershon RC, Hessl D. Sensitivity of the NIH Toolbox to Detect Cognitive Change in Individuals With Intellectual and Developmental Disability. Neurology. 2023 02 21; 100(8):e778-e789.
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Del Hoyo Soriano L, Villarreal JC, Sterling A, Edgin J, Berry-Kravis E, Hamilton DR, Thurman AJ, Abbeduto L. The association between expressive language skills and adaptive behavior in individuals with Down syndrome. Sci Rep. 2022 11 21; 12(1):20014.
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Thurman AJ, Edgin JO, Sherman SL, Sterling A, McDuffie A, Berry-Kravis E, Hamilton D, Abbeduto L. Spoken language outcome measures for treatment studies in Down syndrome: feasibility, practice effects, test-retest reliability, and construct validity of variables generated from expressive language sampling. J Neurodev Disord. 2021 04 08; 13(1):13.
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Jagust W, Jack CR, Bennett DA, Blennow K, Haeberlein SB, Holtzman DM, Jessen F, Karlawish J, Liu E, Molinuevo JL, Montine T, Phelps C, Rankin KP, Rowe CC, Scheltens P, Siemers E, Sperling R. "Alzheimer's disease" is neither "Alzheimer's clinical syndrome" nor "dementia". Alzheimers Dement. 2019 01; 15(1):153-157.
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Hart SJ, Visootsak J, Tamburri P, Phuong P, Baumer N, Hernandez MC, Skotko BG, Ochoa-Lubinoff C, Liogier D'Ardhuy X, Kishnani PS, Spiridigliozzi GA. Pharmacological interventions to improve cognition and adaptive functioning in Down syndrome: Strides to date. Am J Med Genet A. 2017 Nov; 173(11):3029-3041.
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van Karnebeek CD, Bowden K, Berry-Kravis E. Treatment of Neurogenetic Developmental Conditions: From 2016 into the Future. Pediatr Neurol. 2016 12; 65:1-13.
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Jones KL, Pivnick EK, Hines-Dowell S, Weese-Mayer DE, Berry-Kravis EM, Santiago T, Nnorom C, Pourcyrous M. A triple threat: Down syndrome, congenital central hypoventilation syndrome, and Hirschsprung disease. Pediatrics. 2012 Nov; 130(5):e1382-4.
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Lamar M, Foy CML, Beacher F, Daly E, Poppe M, Archer N, Prasher V, Murphy KC, Morris RG, Simmons A, Lovestone S, Murphy DGM. Down syndrome with and without dementia: an in vivo proton Magnetic Resonance Spectroscopy study with implications for Alzheimer's disease. Neuroimage. 2011 Jul 01; 57(1):63-68.
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Kogan CS, Boutet I, Cornish K, Graham GE, Berry-Kravis E, Drouin A, Milgram NW. A comparative neuropsychological test battery differentiates cognitive signatures of Fragile X and Down syndrome. J Intellect Disabil Res. 2009 Feb; 53(2):125-42.
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Ailey SH, Miller AM, Heller T, Smith EV. Evaluating an Interpersonal Model of Depression among adults with Down syndrome. Res Theory Nurs Pract. 2006; 20(3):229-46.
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