Epidemiology of Down syndrome

Wiley - Tập 13 Số 3 - Trang 221-227 - 2007
Stephanie L. Sherman1, Emily G. Allen1, Lora Bean1, Sallie B. Freeman1
1Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia

Tóm tắt

AbstractDown syndrome (DS) is the most commonly identified genetic form of mental retardation and the leading cause of specific birth defects and medical conditions. Traditional epidemiological studies to determine the prevalence, cause, and clinical significance of the syndrome have been conducted over the last 100 years. DS has been estimated to occur in ∼1 in 732 infants in the United States, although there is some evidence that variability in prevalence of estimates exist among racial/ethnic groups. Progress has been made in characterizing the specific types of chromosome errors that lead to DS and in identifying associated factors that increase the risk of chromosome 21 malsegregation, i.e., advanced maternal age and recombination. Studies to examine the variability of the presence of specific DS‐associated birth defects and medical conditions provide evidence for genetic and environmental modifiers. Here, we provide a brief survey of studies that address the current state of the field and suggest gaps in research that can soon be filled with new multidisciplinary approaches and technological advances. © 2007 Wiley‐Liss, Inc. MRDD Research Reviews 2007;13:221–227.

Từ khóa


Tài liệu tham khảo

10.1038/ng0293-146

Antonarakis SE, 1992, The meiotic stage of nondisjunction in trisomy 21: determination by using DNA polymorphisms, Am J Hum Genet, 50, 544

Ballesta F, 1999, Parental origin and meiotic stage of non‐disjunction in 139 cases of trisomy 21, Ann Genet, 42, 11

10.1111/j.1651-2227.1959.tb16409.x

10.1002/ajmg.a.20234

10.1016/S0140-6736(73)92261-7

10.1002/bdra.20294

10.1002/1096-8628(20011001)103:2<149::AID-AJMG1525>3.0.CO;2-G

Carothers AD, 1999, International variation in reported livebirth prevalence rates of Down syndrome, adjusted for maternal age, J Med Genet, 36, 386

10.1093/aje/kwg194

10.1093/oxfordjournals.aje.a009831

10.1097/01.GIM.0000144017.39690.4E

10.5694/j.1326-5377.2007.tb00878.x

10.1002/ajmg.a.31217

10.1002/pd.1970100903

10.1111/j.1469-8749.2005.tb01111.x

10.1016/S0398-7620(05)84771-6

Down JL, 1866, Observations of an ethnic classification of idiots, London Hospital, Clin Lect Rep, 3, 259

10.1002/(SICI)1098-2280(1996)28:3<211::AID-EM6>3.0.CO;2-G

Esquirol JED, 1838, Des Maladies mentales considerees sous les Rapports medical, hygienique et medico‐legal

Fabia J, 1970, Malformations and leukemia in children with Down's syndrome, Pediatrics, 45, 60, 10.1542/peds.45.1.60

10.1002/(SICI)1096-9926(199807)58:1<6::AID-TERA4>3.0.CO;2-0

10.1016/S0140-6736(59)91891-4

10.1002/(SICI)1097-0223(199902)19:2<136::AID-PD479>3.0.CO;2-Z

Freeman SB, 2007, The National Down Syndrome Project: design and implementation, Public Health Rep, 22, 62, 10.1177/003335490712200109

10.1002/(SICI)1096-8628(19981116)80:3<213::AID-AJMG6>3.0.CO;2-8

10.1086/302907

10.1016/0165-1110(92)90033-6

10.1016/S0003-3995(00)00017-4

10.1016/S0140-6736(79)91969-X

10.1002/(SICI)1096-8628(19960424)62:4<376::AID-AJMG10>3.0.CO;2-L

10.1086/303055

Hook EB, 1981, Rates of chromosome abnormalities at different maternal ages, Obstet Gynecol, 58, 282

Hook EB, 1983, Down syndrome rates and relaxed selection at older maternal ages, Am J Hum Genet, 35, 1307

10.1002/(SICI)1097-0223(199903)19:3<245::AID-PD523>3.0.CO;2-B

Hook EB, 1985, Cigarette smoking and Down syndrome, Am J Hum Genet, 37, 1216

Hook EB, 1988, Maternal cigarette smoking. Down syndrome in live births, and infant race, Am J Hum Genet, 42, 482

Hook EB, 1995, The natural history of Down syndrome conceptuses diagnosed prenatally that are not electively terminated, Am J Hum Genet, 57, 875

10.1016/S0140-6736(59)91892-6

10.1002/ajmg.a.20648

10.1002/ajmg.a.30365

10.1093/ajcn/70.4.495

10.1002/(SICI)1096-8628(19961016)65:2<160::AID-AJMG16>3.0.CO;2-O

10.1002/(SICI)1098-2272(1997)14:1<77::AID-GEPI6>3.0.CO;2-2

10.1038/302258a0

Khoshnood B, 2006, Advances in medical technology and creation of disparities: the case of Down syndrome, Am J Clin Nutr, 96, 2139

10.1111/j.1471-0528.2004.00117.x

10.1002/ajmg.1320430620

Kline J, 1983, Maternal smoking and trisomy among spontaneously aborted conceptions, Am J Hum Genet, 35, 421

10.1002/gepi.1370100105

10.1093/hmg/6.9.1391

10.1038/ng1296-400

10.1159/000086896

10.1086/427266

Lejeune J, 1959, Le Mongolism. Premier exemple d'aberration autosomique humaine, Ann Genet, 1, 41

10.1002/ajmg.a.31203

Mikkelsen M, 1995, Epidemiology study of Down's syndrome in Denmark, including family studies of chromosomes and DNA markers, Dev Brain Dysfunct, 8, 4

10.1007/s004390051047

10.1002/ajmg.10121

10.2190/3XYE-QJPU-01BF-8YKE

10.1007/BF02984413

10.1098/rspb.1934.0051

10.1111/j.1749-6632.1954.tb36424.x

PenroseLS.1964.Genetical aspects of mental deficiency. Proceedings of the International Copenhagen Congress on the Scientific Study of Mental Retardation. p165–172.

10.1093/hmg/2.10.1691

Rasmussen SA, 2006, Survival in infants with Down syndrome, Metropolitan Atlanta, 1979–1998, Disabil Rehabil, 148, 806

Rothman KJ, 1983, Spermicide use and Down's syndrome, Am J Clin Nutr, 72, 399

RyndersJE PueschelSM.1982.History of Down syndrome.3–10.

10.1002/ajmg.a.31693

10.1097/01.gim.0000228206.21793.82

Séguin E, 1846, Traitement moral, hygiéne et éducation des idiots et autres enfants arriérés ou retardés dans leurs mouvements, agités de mouvements volontaires

Séguin E, 1856, Origin of the treatment and training of idiots, Am J Educ, 2, 145

10.1093/humrep/del497

10.1159/000086900

10.1002/tera.1420340109

10.1002/bdra.20064

10.1002/ajmg.1320370715

10.1002/ajmg.1320370731

Strobino B, 1986, Vaginal spermicides and spontaneous abortion of known karyotype, Am J Epidemiol, 123, 431, 10.1093/oxfordjournals.aje.a114258

10.1037/11220-000

10.1002/(SICI)1096-8628(19980605)77:5<431::AID-AJMG15>3.0.CO;2-J

10.1097/00001648-199905000-00013

10.1093/aje/152.12.1185

10.1002/bdra.10071

10.2307/3429135

Van der Scheer WM, 1927, Beitrage zur Kenntnis der Mongoloiden Missbildung, Abhand a d Neur, Psychiat und Psychol

10.1016/S0140-6736(99)00936-8

Warburton D, 1989, The effect of maternal age on the frequency of trisomy: change in meiosis or in utero selection?, Prog Clin Biol Res, 311, 165

10.1159/000086899

10.1126/science.2955519

10.1016/S0140-6736(02)08092-3

10.1097/00125817-199903000-00004

Yoon PW, 1996, Advanced maternal age and the risk of Down syndrome characterized by the meiotic stage of chromosomal error: a population‐based study, Am J Hum Genet, 58, 628