{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T20:55:42Z","timestamp":1781211342544,"version":"3.54.1"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,3,11]],"date-time":"2013-03-11T00:00:00Z","timestamp":1362960000000},"content-version":"vor","delay-in-days":10,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2013,3]]},"abstract":"<jats:title>Abstract<jats:bold>\u2003<\/jats:bold><\/jats:title><jats:p>Personalized <jats:styled-content style=\"fixed-case\">M<\/jats:styled-content>edicine represents a paradigm shift in the conceptual framework of research and clinical care. This shift argues that <jats:styled-content style=\"fixed-case\">D<\/jats:styled-content>own syndrome is a treatable condition, and therefore we must invest in research to improve outcomes. Individuals with <jats:styled-content style=\"fixed-case\">D<\/jats:styled-content>own syndrome have varying levels of increased risk for a number of co\u2010morbidities, including infantile spasms and early onset <jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>lzheimer's disease. We will review research in these associated conditions to show how investigators are attempting to identify biomarkers, including genomic, epigenomic, proteomic and metabolomic \u201csignatures\u201d that will predict who may be at risk to develop a specific co\u2010morbidity prior to onset and will provide novel targets for therapeutic development. This <jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>ersonalized <jats:styled-content style=\"fixed-case\">M<\/jats:styled-content>edicine approach will permit predictive and preventive approaches for individuals at increased risk for co\u2010morbidities. The support for clinical trials among individuals with <jats:styled-content style=\"fixed-case\">D<\/jats:styled-content>own syndrome is beginning to overcome the \u201cculture of intractability\u201d that has surrounded this disorder.<\/jats:p>","DOI":"10.1111\/cga.12000","type":"journal-article","created":{"date-parts":[[2012,10,10]],"date-time":"2012-10-10T15:55:46Z","timestamp":1349884546000},"page":"1-2","source":"Crossref","is-referenced-by-count":4,"title":["<scp>D<\/scp>own syndrome and personalized medicine: Changing paradigms from genotype to phenotype to treatment"],"prefix":"10.1111","volume":"53","author":[{"given":"Linda L.","family":"McCabe","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Section of Clinical Genetics and Metabolism University of Colorado School of Medicine, Children's Hospital Colorado  Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward R. B.","family":"McCabe","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Section of Clinical Genetics and Metabolism University of Colorado School of Medicine, Children's Hospital Colorado  Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,3,11]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1684\/epd.2011.0415","article-title":"Epilepsy in children with Down syndrome","volume":"13","author":"Ayra R","year":"2011","journal-title":"Epileptic Disord"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/tp.2012.66"},{"key":"e_1_2_5_4_1","doi-asserted-by":"crossref","first-page":"601","DOI":"10.3233\/JAD-2011-110860","article-title":"Variants in CYP17 and CYP19 cytochrome P450 genes are associated with onset of Alzheimer's disease in women with Down syndrome","volume":"28","author":"Chace C","year":"2012","journal-title":"J Alzheimers Dis"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0920-1211(03)00088-3"},{"key":"e_1_2_5_6_1","first-page":"315","article-title":"Infantile spasms in children with Down syndrome","volume":"23","author":"Escofet C","year":"1995","journal-title":"Rev Neurol"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(01)00239-X"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.3233\/JAD-2010-101335"},{"key":"e_1_2_5_9_1","unstructured":"Hoffmann\u2010La Roche.2012.A study of RG1662 in individuals with Down syndrome. ClinicalTrials.gov. Identifier NCT01436955 (Accessed July 26 2012:http:\/\/clinicaltrials.gov\/ct2\/show\/NCT01436955?term=down+syndrome+and+roche&rank=1)."},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1001212"},{"key":"e_1_2_5_11_1","volume-title":"The Structure of Scientific Revolutions","author":"Kuhn T","year":"1962"},{"key":"e_1_2_5_12_1","first-page":"361218","article-title":"Polymorphisms in HDS17B1: early onset and increased risk of Alzheimer's disease in women with Down syndrome","volume":"2012","author":"Lee JH","year":"2012","journal-title":"Cur Gerontol Geriat Res"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-54299-1.00006-6"},{"key":"e_1_2_5_14_1","first-page":"S213","article-title":"Infantile spasms in children with Down syndrome","volume":"35","author":"Lujic L","year":"2011","journal-title":"Coll Antropol"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.07.008"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2010.02695.x"},{"key":"e_1_2_5_17_1","unstructured":"PricewaterhouseCoopers.2009.The new science of personalized medicine: translating the promise into practice(Accessed July 25 2012:http:\/\/pwchealth.com\/cgi\u2010local\/hregister.cgi\/reg\/personalized\u2010medicine.pdf)."},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2012.07.011"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1994.tb11894.x"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1159\/000334522"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neulet.2007.02.023"}],"container-title":["Congenital Anomalies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcga.12000","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cga.12000","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,15]],"date-time":"2023-10-15T13:16:35Z","timestamp":1697375795000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cga.12000"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,3]]},"references-count":20,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,3]]}},"alternative-id":["10.1111\/cga.12000"],"URL":"https:\/\/doi.org\/10.1111\/cga.12000","archive":["Portico"],"relation":{},"ISSN":["0914-3505","1741-4520"],"issn-type":[{"value":"0914-3505","type":"print"},{"value":"1741-4520","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,3]]}}}