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
|
MeSH Number(s) |
C10.597.606.643.220 C16.131.077.327 C16.131.260.260 C16.320.180.260
|
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
|
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 |
---|
1992 | 0 | 1 | 1 | 1995 | 0 | 1 | 1 | 1996 | 2 | 0 | 2 | 2000 | 1 | 0 | 1 | 2001 | 1 | 0 | 1 | 2002 | 3 | 0 | 3 | 2006 | 1 | 0 | 1 | 2007 | 1 | 1 | 2 | 2008 | 1 | 0 | 1 | 2009 | 1 | 0 | 1 | 2010 | 7 | 0 | 7 | 2011 | 3 | 1 | 4 | 2012 | 7 | 0 | 7 | 2013 | 6 | 2 | 8 | 2014 | 2 | 0 | 2 | 2015 | 3 | 3 | 6 | 2016 | 4 | 1 | 5 | 2017 | 11 | 0 | 11 | 2018 | 6 | 0 | 6 | 2019 | 7 | 1 | 8 | 2020 | 10 | 0 | 10 | 2021 | 10 | 1 | 11 | 2022 | 8 | 0 | 8 |
To return to the timeline, click here.
Below are the most recent publications written about "Down Syndrome" by people in Profiles.
-
Evans EJ, DeGregori J. Dissecting stepwise mutational impairment of megakaryopoiesis in a model of Down syndrome-associated leukemia. J Clin Invest. 2022 Jul 15; 132(14).
-
Santoro JD, Partridge R, Tanna R, Pagarkar D, Khoshnood M, Rehmani M, Kammeyer RM, Gombolay GY, Fisher K, Conravey A, El-Dahr J, Christy AL, Patel L, Manning MA, Van Mater H, Rafii MS, Quinn EA. Evidence of neuroinflammation and immunotherapy responsiveness in individuals with down syndrome regression disorder. J Neurodev Disord. 2022 06 03; 14(1):35.
-
Friedman NR, Green KK. Upper Airway Stimulation for Children With Down Syndrome and Obstructive Sleep Apnea-A New Frontier. JAMA Otolaryngol Head Neck Surg. 2022 06 01; 148(6):529-530.
-
Wong H, Buck JM, Borski C, Pafford JT, Keller BN, Milstead RA, Hanson JL, Stitzel JA, Hoeffer CA. RCAN1 knockout and overexpression recapitulate an ensemble of rest-activity and circadian disruptions characteristic of Down syndrome, Alzheimer's disease, and normative aging. J Neurodev Disord. 2022 05 24; 14(1):33.
-
Prutton KM, Marentette JO, Leifheit BA, Esquer H, LaBarbera DV, Anderson CC, Maclean KN, Roede JR. Oxidative stress as a candidate mechanism for accelerated neuroectodermal differentiation due to trisomy 21. Free Radic Biol Med. 2022 Jun; 186:32-42.
-
McCurdy BL, Jewett CE, Stemm-Wolf AJ, Duc HN, Joshi M, Espinosa JM, Prekeris R, Pearson CG. Trisomy 21 increases microtubules and disrupts centriolar satellite localization. Mol Biol Cell. 2022 Jul 01; 33(8):br11.
-
Laetsch TW, Maude SL, Balduzzi A, Rives S, Bittencourt H, Boyer MW, Buechner J, De Moerloose B, Qayed M, Phillips CL, Pulsipher MA, Hiramatsu H, Tiwari R, Grupp SA. Tisagenlecleucel in pediatric and young adult patients with Down syndrome-associated relapsed/refractory acute lymphoblastic leukemia. Leukemia. 2022 06; 36(6):1508-1515.
-
Dreher T, Wolter-Warmerdam K, Holland S, Katz T, Patel L. Toilet Training in Children and Adolescents with Down Syndrome. J Dev Behav Pediatr. 2022 Aug 01; 43(6):e381-e389.
-
Barreiro A, Wolter-Warmerdam K, Friedman S, Hickey F, Johnson S, Marmolejo J. Child feeding practices in children with Down syndrome in relationship to ethnicity and BMI. Appetite. 2022 03 01; 170:105888.
-
Daniels D, Wolter-Warmerdam K, Holland S, Hickey F. Reach Out and Read Implementation in a Pediatric Down Syndrome Clinic. J Pediatr Health Care. 2022 May-Jun; 36(3):231-239.
|
People  People who have written about this concept. _
Similar Concepts
People who have written about this concept.
_
Top Journals
Top journals in which articles about this concept have been published.
|