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Rev Med UAS 2022; 12 (Esp)
Principales características fenotípicas crónico degenerativas asociadas al síndrome de Down: Una revisión narrativa
Esparza-Ocampo K, Chaidez-Fernández Y, Magaña-Ordorica D, Angulo-Rojo C, Guadrón-Llanos A, Castro-Apodaca F, Magaña-Gómez J
Idioma: Español
Referencias bibliográficas: 61
Paginas: 3-22
Archivo PDF: 447.54 Kb.
RESUMEN
El síndrome de Down (SD) es la cromosomopatía más común, con una prevalencia de 3.7 y 2.9 por 10,000 nacimientos
en México y Sinaloa, respectivamente. Aunque la esperanza de vida ha ido en aumento en esta población, pasando de
8 años hace 5 décadas a 60 años en la actualidad, también conlleva la aparición de condiciones crónicas y degenerativas
propias del envejecimiento y aparentemente de mayor riesgo en esta población. Condiciones como discapacidad
intelectual, trastornos oftálmicos, malformaciones cardiacas congénitas, trastornos gastrointestinales, alteraciones metabólicas
como sobrepeso, obesidad y diabetes, alzheimer, leucemia, enfermedad tiroidea, isquémica y cerebrovascular
son causas frecuentes de morbilidad y mortalidad. Por ello, el conocimiento sobre los aspectos clínicos de estos pacientes
contribuirá a mejorar los programas de prevención e intervención, disminuir las complicaciones y mejorar la
atención y calidad de vida de esta pobación.
REFERENCIAS (EN ESTE ARTÍCULO)
King E, Remington M, Berger H. Familyperspectives on gaps in health care for peoplewith Down syndrome. Am J Med GenetA. 2022;188(4):1160-9.
de Graaf G, Buckley F, Skotko BG. Estimationof the number of people with Down syndromein the United States. Genet Med.2017;19(4):439-47.
de Graaf G, Vis JC, Haveman M, van HoveG, de Graaf EAB, Tijssen JGP, et al. Assessmentof prevalence of persons with Downsyndrome: A theory-based demographic model.J Appl Res Intellect Disabil.2011;24(3):247-62.
Sierra RM, Navarrete HE, Canun SS, ReyesPAE, Valdes HJ. [Prevalence of Down syndromeusing certificates of live births and fetaldeaths in Mexico 2008-2011]. Bol MedHosp Infant Mex. 2014;71(5):292-7.
Weijerman ME, van Furth AM, Vonk NoordegraafA, van Wouwe JP, Broers CJ, GemkeRJ. Prevalence, neonatal characteristics,and first-year mortality of Down syndrome: anational study. J Pediatr. 2008;152(1):15-9.
Calderón-Alvarado AB, del Sagrario Rojas-Villegas M, Dehesa-López E. Prevalencia demalformaciones congénitas detectadas alnacimiento en un hospital de segundo nivelen Sinaloa. Acta Pediatr Méx.2018;38(6):363-70.
Iulita MF, Garzón CD, Klitgaard CM, ValleTN, Plana-Ripoll O, Rasmussen SA, et al.Association of Alzheimer disease with lifeexpectancy in people with Down syndrome.JAMA Netw Open. 2022;5(5):e2212910.
Kennedy N, Kennedy J, Kerr M, Dredge S,Brophy S. Health checks for adults with intellectualdisability and association with survivalrates: a linked electronic records matchedcohort study in Wales, UK. BMJ Open.2022;12(4):e049441.
Muñoz-Ortiz J, Charry-Sánchez JD, Bechara-Arango I, Blanco-Becerra M, Talero-Gutiérrez C, Gomez-Suarez M, et al. Prevalenceof ophthalmological manifestations inpediatric and adolescent populations withDown syndrome: a systematic review of theliterature. Syst Rev. 2022;11(1):75.
Schworer EK, Ahmed A, Hogenkamp L,Moore S, Esbensen AJ. Associations amongco-occurring medical conditions and cognition,language, and behavior in Down syndrome.Res Dev Disabil. 2022;126:104236.
Antonarakis SE. Down syndrome and thecomplexity of genome dosage imbalance.Nat Rev Genet. 2017;18(3):147-63.
Antonarakis SE, Lyle R, Dermitzakis ET,Reymond A, Deutsch S. Chromosome 21and down syndrome: from genomics topathophysiology. Nat Rev Genet.2004;5(10):725-38.
Antonaros F, Zenatelli R, Guerri G, BertelliM, Locatelli C, Vione B, et al. The transcriptomeprofile of human trisomy 21 blood cells.Hum Genomics. 2021;15(1):25.
Montoya JC, Soto J, Satizábal JM, SánchezA, García F. Genomic study of the critical regionof chromosome 21 associated to Downsyndrome. Colomb Med. 2011;42(1):26-38.
Pelleri MC, Cicchini E, Petersen MB, TranebjaergL, Mattina T, Magini P, et al. Partialtrisomy 21 map: Ten cases further supportingthe highly restricted Down syndrome criticalregion (HR-DSCR) on human chromosome21. Mol Genet Genomic Med.2019;7(8):e797.
Korbel JO, Tirosh-Wagner T, Urban AE,Chen X-N, Kasowski M, Dai L, et al. The geneticarchitecture of Down syndrome phenotypesrevealed by high-resolution analysis ofhuman segmental trisomies. Proc Natl AcadSci U S A. 2009;106(29):12031-6.
Lana-Elola E, Watson-Scales SD, FisherEM, Tybulewicz VL. Down syndrome: searchingfor the genetic culprits. Dis ModelMech. 2011;4(5):586-95.
Patterson D. Molecular genetic analysis ofDown syndrome. Hum Genet.2009;126(1):195-214.
Jyothy A, Rao GN, Kumar KS, Rao VB, DeviBU, Reddy PP. Translocation Down syndrome.Indian J Med Sci. 2002;56(3):122-6.
Antonarakis SE, Skotko BG, Rafii MS,Strydom A, Pape SE, Bianchi DW, et al.Down syndrome. Nat Rev Dis Primers.2020;6(1):9-.
Biselli JM, Zampieri BL, Biselli-Chicote PM,de Souza JES, Bürger MC, da Silva WA, Jr.,et al. Differential microRNA expression profilein blood of children with Down syndromesuggests a role in immunological dysfunction.Hum Cell. 2022;35(2):639-48.
Amr NH. Thyroid disorders in subjects withDown syndrome: An update. Acta Biomed.2018;89(1):132-9.
Fernández-Alcaraz C, Carvajal F. Neuropsychologicalprofile of adults with Downsyndrome and moderate intellectual disability.Res Dev Disabil. 2020;107:103781.
Grieco J, Pulsifer M, Seligsohn K, Skotko B,Schwartz A. Down syndrome: Cognitive andbehavioral functioning across the lifespan.Am J Med Genet C Semin Med Genet.2015;169(2):135-49.
Asim A, Agarwal S. Congenital heart defectsamong Down's syndrome cases: an updatedreview from basic research to an emergingdiagnostics technology and genetic counselling.J Genet. 2021;100.
Taura MG, Alshahrani AM, Alqahtani DO.Prevalence of congenital heart diseaseamong patients with down syndrome inSouthwestern Saudi Arabia. Ann Afr Med.2021;20(4):265-9.
Bermudez B, de Oliveira CM, de Lima CatMN, Magdalena NIR, Celli A. Gastrointestinaldisorders in Down syndrome. Am J MedGenet A. 2019;179(8):1426-31.
Saberi RA, Gilna GP, Slavin BV, Huerta CT,Ramsey WA, O'Neil CF, Jr., et al. Hirschsprungdisease in Down syndrome: An opportunityfor improvement. J Pediatr Surg.2022;57(6):1040-4.
Kaczorowska N, Kaczorowski K, LaskowskaJ, Mikulewicz M. Down syndrome as a causeof abnormalities in the craniofacial region: Asystematic literature review. Adv Clin ExpMed. 2019;28(11):1587-92.
Mazurek D, Wyka J. Down syndrome-geneticand nutritional aspects of accompanyingdisorders. Rocz Panstw Zakl Hig.2015;66(3).
Gensous N, Bacalini MG, Franceschi C, GaragnaniP. Down syndrome, acceleratedaging and immunosenescence. Semin Immunopathol.2020;42(5):635-45.
Gensous N, Franceschi C, Salvioli S, GaragnaniP, Bacalini MG. Down syndrome,ageing and epigenetics. Subcell Biochem.2019;91:161-93.
Hill DL, Parks EP, Zemel BS, Shults J, StallingsVA, Stettler N. Resting energy expenditureand adiposity accretion among childrenwith Down syndrome: a 3-year prospectivestudy. Eur J Clin Nutr.2013;67(10):1087-91.
Saghazadeh A, Mahmoudi M, DehghaniAshkezari A, Oliaie Rezaie N, Rezaei N.Systematic review and meta-analysis showsa specific micronutrient profile in people withDown Syndrome: Lower blood calcium, seleniumand zinc, higher red blood cell copperand zinc, and higher salivary calcium and sodium.PLoS One. 2017;12(4):e0175437.
Startin CM, Ashton NJ, Hamburg S, HithersayR, Wiseman FK, Mok KY, et al. Plasmabiomarkers for amyloid, tau, and cytokines inDown syndrome and sporadic Alzheimer'sdisease. Alzheimers Res Ther.2019;11(1):26.
Guaraldi F, Rossetto Giaccherino R, LanfrancoF, Motta G, Gori D, Arvat E, et al. Endocrineautoimmunity in Down's syndrome.Front Horm Res. 2017;48:133-46.
Bertapelli F, Pitetti K, Agiovlasitis S, Guerra-Junior G. Overweight and obesity in childrenand adolescents with Down syndrome-prevalence,determinants, consequences, andinterventions: A literature review. Res DevDisabil. 2016;57:181-92.
Real de Asua D, Parra P, Costa R, MoldenhauerF, Suarez C. Evaluation of the impactof abdominal obesity on glucose and lipidmetabolism disorders in adults with Downsyndrome. Res Dev Disabil.2014;35(11):2942-9.
Roccatello G, Cocchi G, DimastromatteoRT, Cavallo A, Biserni GB, Selicati M, et al.Eating and lifestyle habits in youth withDown syndrome attending a care program:An exploratory lesson for future improvements.Front Nutr. 2021;8:641112.
Flores Arizmendi KA, García De La PuenteS, González Navarro M, Bonillo Suarez L,De León Becerra AG, Valderrama HernándezA, et al. Growth charts for Mexican childrenwith Down syndrome. Am J Med GenetA. 2022;188(4):1170-83.
Pessoa DMF, da Paz ON, de Santana DG,de Fátima TFV, de Noronha RM, Calliari LE.Characteristics of type 1 diabetes mellitus inchildren and adolescents with Down's syndromein an admixed population. Arch EndocrinolMetab. 2021;65(5):562-9.
Fortea J, Zaman SH, Hartley S, Rafii MS,Head E, Carmona-Iragui M. Alzheimer's diseaseassociated with Down syndrome: agenetic form of dementia. Lancet Neurol.2021;20(11):930-42.
Hartley D, Blumenthal T, Carrillo M, DiPaoloG, Esralew L, Gardiner K, et al. Down syndromeand Alzheimer's disease: Commonpathways, common goals. Alzheimers Dement.2015;11(6):700-9.
Kłosowska A, Ćwiklińska A, Kuchta A, BerlińskaA, Jankowski M, Wierzba J. Downsyndrome, increased risk of dementia and lipiddisturbances. Dev Period Med.2017;21(1):69-73.
Agiovlasitis S, McCubbin JA, Yun J, PavolMJ, Widrick JJ. Economy and preferredspeed of walking in adults with and withoutDown syndrome. Adapt Phys Activ Q.2009;26(2):118-30.
Pitetti K, Baynard T, Agiovlasitis S. Childrenand adolescents with Down syndrome, physicalfitness and physical activity. J SportHealth Sci. 2013;2(1):47-57.
Buitenkamp TD, Izraeli S, Zimmermann M,Forestier E, Heerema NA, van den Heuvel-Eibrink MM, et al. Acute lymphoblastic leukemiain children with Down syndrome: a retrospectiveanalysis from the Ponte di Legnostudy group. Blood. 2014;123(1):70-7.
Hertzberg L, Vendramini E, Ganmore I, CazzanigaG, Schmitz M, Chalker J, et al. Downsyndrome acute lymphoblastic leukemia, ahighly heterogeneous disease in which aberrantexpression of CRLF2 is associated withmutated JAK2: a report from the InternationalBFM Study Group. Blood.2010;115(5):1006-17.
Mateos MK, Barbaric D, Byatt S-A, Sutton R,Marshall GM. Down syndrome and leukemia:insights into leukemogenesis andtranslational targets. Transl Pediatr.2015;4(2):76.
Triarico S, Trombatore G, Capozza MA, RomanoA, Mastrangelo S, Attinà G, et al. Hematologicaldisorders in children with Downsyndrome. Expert Rev Hematol.2022;15(2):127-35.
Hawli Y, Nasrallah M, Fuleihan GE-H. Endocrineand musculoskeletal abnormalities inpatients with Down syndrome. Nat Rev Endocrinol.2009;5(6):327.
Johnson MB, De Franco E, Greeley SAW,Letourneau LR, Gillespie KM, Wakeling MN,et al. Trisomy 21 is a cause of permanentneonatal diabetes that is autoimmune butnot HLA associated. Diabetes.2019;68(7):1528-35.
Tenneti N, Dayal D, Sharda S, Panigrahi I,Didi M, Attri SV, et al. Concentrations of leptin,adiponectin and other metabolic parametersin non-obese children with Down syndrome.J Pediatr Endocrinol Metab.2017;30(8):831-7.
Corsi MM, Dogliotti G, Pedroni F, Galliera E,Malavazos AE, Villa R, et al. Adipocytokinesin Down's syndrome, an atheroma-free model:Role of adiponectin. Arch Gerontol Geriatr.2009;48(1):106-9.
Adelekan T, Magge S, Shults J, Stallings V,Stettler N. Lipid profiles of children withDown syndrome compared with their siblings.Pediatrics. 2012;129(6):e1382-7.
Buonuomo PS, Bartuli A, Mastrogiorgio G,Vittucci A, Di Camillo C, Bianchi S, et al. Lipidprofiles in a large cohort of Italian childrenwith Down syndrome. Eur J Med Genet.2016;59(8):392-5.
Garcia-de la Puente S, Flores-Arizmendi KA,Delgado-Montemayor MJ, Vargas-RobledoTT. Lipid profile of Mexican children withDown syndrome. BMC Pediatrics.2021;21(1):77.
Pueschel S, Craig W, Haddow J. Lipids andlipoproteins in persons with Down's syndrome.J Intellect Disabil Res.1992;36(4):365-9.
Zamorano A, Guzmán M, Aspillaga M, AvendañoA, Gatica M. Concentrations of serumlipids in children with Down's syndrome.Arch Biol Med Exp. 1991;24(1):49-55.
de la Piedra MJ, Alberti G, Cerda J, CárdenasA, Paul MA, Lizama M. Alta frecuenciade dislipidemias en niños y adolescentescon Síndrome de Down. Rev Chil Pediatr.2017;88:595-601.
Chaney RH. Neurogenic atherosclerosis inmentally retarded persons. J Intellect DisabilRes. 1987;31(3):235-40.