Sections

Medication

Medication Summary

Drug therapy is not currently a component of the standard of care for Down syndrome. Medications are indicated only for symptomatic treatment of pain. Obviously, prolonged use of analgesics without diagnostic evaluation and an understanding of the underlying cause should not be encouraged. No particular analgesic is superior.

Diuretics and digoxin should be used to manage congestive heart failure secondary to congenital heart defect.

Class Summary

Pain control is essential to quality patient care. It ensures patient comfort and promotes pulmonary toilet, and analgesics have sedating properties that are beneficial for patients who have sustained trauma or injuries.

Acetaminophen and codeine (Tylenol #3, Capital and Codeine)

View full drug information

Codeine is a centrally acting analgesic; acetaminophen is a peripherally acting analgesic. The combination is indicated for treatment of mild to moderately severe pain. Tablets contain acetaminophen 300 mg and codeine phosphate 30 mg; elixir contains acetaminophen 120 mg and codeine 12 mg per 5 mL.

Morphine sulfate (Duramorph, Astramorph, MS Contin, Oramorph SR)

View full drug information

Morphine is a narcotic drug that interferes with opioid receptors; it mainly acts on the central nervous system (CNS) and the gastrointestinal (GI) tract.

Ibuprofen (Motrin, Advil, Caldolor)

View full drug information

Ibuprofen is a member of the propionic acid group of nonsteroidal anti-inflammatory drugs (NSAIDs). It has anti-inflammatory, analgesic, and antipyretic activity. Its mode of action is not clear but might be related to prostaglandin synthetase inhibition.

Naproxen (Aleve, Anaprox, Naprosyn, Naprelan)

View full drug information

Naproxen is an NSAID of the arylacetic acid group. It inhibits prostaglandin synthesis.

Class Summary

Antidysrhythmics may improve morbidity in patients with congestive heart failure secondary to congenital heart defect.

Digoxin (Lanoxin)

View full drug information

Digoxin is a cardiac glycoside with direct inotropic effects in addition to indirect effects on the cardiovascular system. It acts directly on cardiac muscle, increasing myocardial systolic contractions. Indirect actions result in increased carotid sinus nerve activity and enhanced sympathetic withdrawal for any given increase in mean arterial pressure.

Class Summary

Diuretics should be used to manage congestive heart failure secondary to congenital heart defects.

Furosemide (Lasix)

View full drug information

Furosemide increases excretion of water by interfering with the chloride-binding cotransport system, which, in turn, inhibits sodium and chloride reabsorption in the ascending loop of Henle and distal renal tubule. The bioavailability of oral furosemide is 50%. If a switch is made from intravenous to oral administration, an equivalent oral dose should be used. Doses vary depending on the patient's clinical condition.

Hydrochlorothiazide (Microzide)

View full drug information

Hydrochlorothiazide inhibits reabsorption of sodium in distal tubules, causing increased excretion of sodium and water as well as potassium and hydrogen ions.

Metolazone (Zaroxolyn)

View full drug information

Metolazone is a quinazoline diuretic with properties similar to those of thiazide diuretics. It inhibits sodium resorption at the cortical diluting site and the proximal convoluted tubule.

Questions

Karmiloff-Smith A, Al-Janabi T, D'Souza H, et al. The importance of understanding individual differences in Down syndrome. F1000Res. 2016. 5:[QxMD MEDLINE Link]. [Full Text].
[Guideline] Bull MJ. Health supervision for children with Down syndrome. Pediatrics. 2011 Aug. 128(2):393-406. [QxMD MEDLINE Link]. [Full Text].
Lejeune J. Le mongolisme. Premier example d'aberration autosomique humaine. Ann Genet. 1959. 1:41-9.
Jacobs PA, Baikie AG, Court Brown WM, Strong JA. The somatic chromosomes in mongolism. Lancet. 1959 Apr 4. 1(7075):710. [QxMD MEDLINE Link].
Peterson MB, Mikkelsen M. Nondisjunction in trisomy 21: origin and mechanisms. Cytogenet Cell Genet. 2000. 91:199-203.
Down JL. Observations on an ethnic classification of idiots. 1866. Ment Retard. 1995 Feb. 33(1):54-6. [QxMD MEDLINE Link].
LEJEUNE J, GAUTIER M, TURPIN R. [Study of somatic chromosomes from 9 mongoloid children]. C R Hebd Seances Acad Sci. 1959 Mar 16. 248(11):1721-2. [QxMD MEDLINE Link].
Levenson D. Talking about Down syndrome. Am J Med Genet A. 2009 Feb 15. 149A(4):vii-viii. [QxMD MEDLINE Link].
[Guideline] Hartway S. A parent's guide to the genetics of Down syndrome. Adv Neonatal Care. 2009 Feb. 9(1):27-30. [QxMD MEDLINE Link].
Ranweiler R. Assessment and care of the newborn with Down syndrome. Adv Neonatal Care. 2009 Feb. 9(1):17-24; Quiz 25-6. [QxMD MEDLINE Link].
Reeves RH, Baxter LL, Richtsmeier JT. Too much of a good thing: mechanisms of gene action in Down syndrome. Trends Genet. 2001 Feb. 17(2):83-8. [QxMD MEDLINE Link].
Cheon MS, Shim KS, Kim SH, Hara A, Lubec G. Protein levels of genes encoded on chromosome 21 in fetal Down syndrome brain: Challenging the gene dosage effect hypothesis (Part IV). Amino Acids. 2003 Jul. 25(1):41-7. [QxMD MEDLINE Link].
Baksh RA, Strydom A, Pape SE, Chan LF, Gulliford MC. Susceptibility to COVID-19 Diagnosis in People with Down Syndrome Compared to the General Population: Matched-Cohort Study Using Primary Care Electronic Records in the UK. J Gen Intern Med. 2022 Apr 6. [QxMD MEDLINE Link]. [Full Text].
Tarani L, Carito V, Ferraguti G, et al. Neuroinflammatory Markers in the Serum of Prepubertal Children with Down Syndrome. J Immunol Res. 2020. 2020:6937154. [QxMD MEDLINE Link]. [Full Text].
Romano A, Cornia R, Moraschi M, et al. Age-Related Cortical Thickness Reduction in Non-Demented Down's Syndrome Subjects. J Neuroimaging. 2015 May 21. [QxMD MEDLINE Link].
[Guideline] Practice Bulletin No. 163: Screening for Fetal Aneuploidy. Obstet Gynecol. 2016 May. 127 (5):e123-37. [QxMD MEDLINE Link]. [Full Text].
Canfield MA, Honein MA, Yuskiv N, Xing J, Mai CT, Collins JS. National estimates and race/ethnic-specific variation of selected birth defects in the United States, 1999-2001. Birth Defects Res A Clin Mol Teratol. 2006 Nov. 76(11):747-56. [QxMD MEDLINE Link].
Coppus AM, Evenhuis HM, Verberne GJ, et al. Survival in elderly persons with Down syndrome. J Am Geriatr Soc. 2008 Dec. 56(12):2311-6. [QxMD MEDLINE Link].
Hartley D, Blumenthal T, Carrillo M, et al. Down syndrome and Alzheimer's disease: common pathways, common goals. Alzheimers Dement. 2015 Jun. 11 (6):700-9. [QxMD MEDLINE Link]. [Full Text].
Matthews TJ, Allain DC, Matthews AL, Mitchell A, Santoro SL, Cohen L. An assessment of health, social, communication, and daily living skills of adults with down syndrome. Am J Med Genet A. 2018 Apr 25. [QxMD MEDLINE Link].
[Guideline] Cohen WI, ed. Health care guidelines for individuals with Down syndrome (Down syndrome preventative medical check list). Down Syndrome Q. 1996. 1(2):1-10. [Full Text].
Nieuwenhuis-Mark RE. Diagnosing Alzheimer’s dementia in Down syndrome: Problems and possible solutions. Res Dev Disabil. 2009. 30(5):827-838.
Kusters MA, Verstegen RH, Gemen EF, de Vries E. Intrinsic defect of the immune system in children with Down syndrome: a review. Clin Exp Immunol. 2009 May. 156(2):189-93. [QxMD MEDLINE Link]. [Full Text].
Vis JC, Duffels MG, Winter MM, Weijerman ME, Cobben JM, Huisman SA. Down syndrome: a cardiovascular perspective. J Intellect Disabil Res. 2009 May. 53(5):419-25. [QxMD MEDLINE Link].
Lanfranchi S, Carretti B, Spanò G, Cornoldi C. A specific deficit in visuospatial simultaneous working memory in Down syndrome. J Intellect Disabil Res. 2009 May. 53(5):474-83. [QxMD MEDLINE Link].
Levorato MC, Roch M, Beltrame R. Text comprehension in Down syndrome: the role of lower and higher level abilities. Clin Linguist Phon. 2009 Apr. 23(4):285-300. [QxMD MEDLINE Link].
Salomon LJ, Bernard M, Amarsy R, Bernard JP, Ville Y. The impact of crown-rump length measurement error on combined Down syndrome screening: a simulation study. Ultrasound Obstet Gynecol. 2009 May. 33(5):506-11. [QxMD MEDLINE Link].
Zigman WB. Atypical aging in Down syndrome. Dev Disabil Res Rev. 2013. 18 (1):51-67. [QxMD MEDLINE Link].
Scherbenske JM, Benson PM, Rotchford JP, James WD. Cutaneous and ocular manifestations of Down syndrome. J Am Acad Dermatol. 1990 May. 22(5 Pt 2):933-8. [QxMD MEDLINE Link].
Wilms A, Dummer R. [Elastosis perforans serpiginosa in Down syndrome]. Hautarzt. 1997 Dec. 48(12):923-5. [QxMD MEDLINE Link].
Daneshpazhooh M, Nazemi TM, Bigdeloo L, Yoosefi M. Mucocutaneous findings in 100 children with Down syndrome. Pediatr Dermatol. 2007 May-Jun. 24(3):317-20. [QxMD MEDLINE Link].
Masjkey D, Bhattacharya S, Dhungel S, Jha CB, Shrestha S, Ghimire SR, et al. Utility of phenotypic dermal indices in the detection of Down syndrome patients. Nepal Med Coll J. 2007 Dec. 9(4):217-21. [QxMD MEDLINE Link].
Geggel RL, O'Brien JE, Feingold M. Development of valve dysfunction in adolescents and young adults with Down syndrome and no known congenital heart disease. J Pediatr. 1993 May. 122 (5 Pt 1):821-3. [QxMD MEDLINE Link].
Postolache L, Parsa A, Simoni P, et al. Widespread kidney anomalies in children with Down syndrome. Pediatr Nephrol. 2022 Feb 3. [QxMD MEDLINE Link].
Zemel BS, Pipan M, Stallings VA, et al. Growth Charts for Children With Down Syndrome in the United States. Pediatrics. 2015 Nov. 136 (5):e1204-11. [QxMD MEDLINE Link]. [Full Text].
Annerén G, Gustavson KH, Sara VR, Tuvemo T. Growth retardation in Down syndrome in relation to insulin-like growth factors and growth hormone. Am J Med Genet Suppl. 1990. 7:59-62. [QxMD MEDLINE Link].
Bertapelli F, Pitetti K, Agiovlasitis S, Guerra-Junior G. Overweight and obesity in children and adolescents with Down syndrome-prevalence, determinants, consequences, and interventions: a literature review. Res Dev Disabil. 2016 Oct. 57:181-92. [QxMD MEDLINE Link].
Popova G, Paterson WF, Brown A, Donaldson MD. Hashimoto's thyroiditis in Down's syndrome: clinical presentation and evolution. Horm Res. 2008. 70(5):278-84. [QxMD MEDLINE Link].
Shalitin S, Phillip M. Autoimmune thyroiditis in infants with Down’s syndrome. J Pediatr Endocrinol. 2002. 15:649-652.
Idris I, O’Malley BP. Thyrotoxicosis in Down’s and Turner’s syndromes: the likelihood of Hashimoto’s thyroiditis as the underlying aetiology. Int J Clin Pract. 2000. 54:272-273.
Rudberg C, Johansson H, Akerstrom G, Tuvema T, Karlsson FA. Graves’ disease in children and adolescents. Late results of surgical treatment. Eur J Endocrinol. 1996. 134:710-7.
Zwaan MC, Reinhardt D, Hitzler J, Vyas P. Acute leukemias in childrenwith Down syndrome. Pediatr Clin N Am. 2008. 55:53-70.
Lerner LH, Wiss K, Gellis S, Barnhill R. An unusual pustular eruption in an infant with Down syndrome and a congenital leukemoid reaction. J Am Acad Dermatol. 1996 Aug. 35(2 Pt 2):330-3. [QxMD MEDLINE Link].
Hitzler JK, Zipursky A. Origins of leukaemia in children with Down syndrome. Nat Rev Cancer. 2005 Jan. 5(1):11-20. [QxMD MEDLINE Link].
Li Z, Godinho FJ, Klusmann JH, Garriga-Canut M, Yu C, Orkin SH. Developmental stage-selective effect of somatically mutated leukemogenic transcription factor GATA1. Nat Genet. 2005 Jun. 37(6):613-9. [QxMD MEDLINE Link].
Magalhaes IQ, Splendore A, Emerenciano M, et al. Transient neonatal myeloproliferative disorder without Down syndrome and detection of GATA1 mutation. J Pediatr Hematol Oncol. 2005 Jan. 27(1):50-2. [QxMD MEDLINE Link].
Ahmed M, Sternberg A, Hall G, et al. Natural history of GATA-1 mutations in Down syndrome. Blood. 2004. 103:2480-2489.
Bhatt S, Schreck R, Graham JM, Korenberg JR, Hurvitz CG, Fischel-Ghodsian N. Transient leukemia with trisomy 21: description of a case and review of the literature. Am J Med Genet. 1995 Sep 25. 58(4):310-4. [QxMD MEDLINE Link].
Roderick JA, Bradshaw WT. Transient myeloproliferative disorder in a newborn with Down syndrome. Adv neonat Care. 2008. 8:208-218.
Gamis A, Hilden J. Transient myleoproliferative disorder with too few data and many unanswered questions: does it contain an important piece of the puzzle to understanding hemataopoiesis and acute myelogenous leukemia?. J Pediatr Hematol Oncol. 2002. 24:2-5.
Ma SK, Wan TS, Chan GC, Ha SY, Fung LF, Chan LC. Relationship between transient abnormal myelopoiesis and acute megakaryoblastic leukaemia in Down's syndrome. Br J Haematol. 2001 Mar. 112(3):824-5. [QxMD MEDLINE Link].
Taub J. Down syndrome and megakaryocytic leukemia/transient myeloproliferative disorder: when does it begin?. Blood. 2003. 101:4228-4300.
Al Kasim F, Doyle JJ, Massey GV, et al. Incidence and treatment of potentially lethal diseasesin transient leukemia of Down syndrome: Pediatric Oncology Group Study. J Pediatr Hematol Oncol. 2002. 24:9-13.
Massey GV, Zipursky A, Chang MN, Doyle JJ, Nasim S, Taub JW. A prospective study of the natural history of transient leukemia (TL) in neonates with Down syndrome (DS): Children's Oncology Group (COG) study POG-9481. Blood. 2006 Jun 15. 107(12):4606-13. [QxMD MEDLINE Link].
Krivit W, Good RA. The simultaneous occurrence of leukemia and mongolism; report offour cases. AMA J Dis Child. 1956. 91:218-222.
Hasle H, Clemmensen IH, Mikkelsen M. Risks of leukaemia and solid tumours in individuals with Down's syndrome. Lancet. 2000 Jan 15. 355(9199):165-9. [QxMD MEDLINE Link].
Jensen KM, Bulova PD. Managing the care of adults with Down's syndrome. BMJ. 2014 Sep 30. 349:g5596. [QxMD MEDLINE Link].
Ringman JM, Rao N, Lu PH, Cederbaum S. Mosaicism for trisomy 21 in a patient with young-onset dementia. A case report and brief literature review. Arch Neurol. 2008. 65:412-415.
Papavassiliou P, York TP, Gursoy N, Hill G, Nicely LV, Sundaram U. The phenotype of persons having mosaicism for trisomy 21/Down syndrome reflects the percentage of trisomic cells present in different tissues. Am J Med Genet A. 2009 Feb 15. 149A(4):573-83. [QxMD MEDLINE Link].
Baum RA, Nash PL, Foster JE, Spader M, Ratliff-Schaub K, Coury DL. Primary care of children and adolescents with down syndrome: an update. Curr Probl Pediatr Adolesc Health Care. 2008 Sep. 38(8):241-61. [QxMD MEDLINE Link].
Colvin KL, Yeager ME. What people with Down Syndrome can teach us about cardiopulmonary disease. Eur Respir Rev. 2017 Jan. 26 (143):[QxMD MEDLINE Link]. [Full Text].
McDowell KM, Craven DI. Pulmonary complications of Down syndrome during childhood. J Pediatr. 2011 Feb. 158 (2):319-25. [QxMD MEDLINE Link].
Alimi A, Taytard J, Abou Taam R, et al. Pulmonary hemosiderosis in children with Down syndrome: a national experience. Orphanet J Rare Dis. 2018 Apr 20. 13 (1):60. [QxMD MEDLINE Link]. [Full Text].
Liyanage S, Barnes J. The eye and Down's syndrome. Br J Hosp Med (Lond). 2008 Nov. 69(11):632-4. [QxMD MEDLINE Link].
Miyazaki EA. The orthoptics of Down syndrome. Am Orthopt J. 2014. 64:12-6. [QxMD MEDLINE Link].
Rabin KR, Whitlock JA. Malignancy in children with trisomy 21. Oncologist. 2009 Feb. 14(2):164-73. [QxMD MEDLINE Link]. [Full Text].
Bhatnagar N, Nizery L, Tunstall O, Vyas P, Roberts I. Transient Abnormal Myelopoiesis and AML in Down Syndrome: an Update. Curr Hematol Malig Rep. 2016 Oct. 11 (5):333-41. [QxMD MEDLINE Link]. [Full Text].
Martinez E, Castaneda D, Jaramillo S, et al. Altered immune parameters correlate with infection-related hospitalizations in children with Down syndrome. Hum Immunol. 2016 Jul. 77 (7):594-9. [QxMD MEDLINE Link].
Mik G, Gholve PA, Scher DM, Widmann RF, Green DW. Down syndrome: orthopedic issues. Curr Opin Pediatr. 2008 Feb. 20(1):30-6. [QxMD MEDLINE Link].
Rogers PT, Roizen NJ, Capone GT. Down syndrome. Capute AJ, Accardo PJ. Developmental disabilities in infancy and childhood. 2nd. 1996. 221-224.
Pueschel SM, Scola FH. Atlantoaxial instability in individuals with Down Syndrome: epidemiologic, radiographic, and clinical studies. Pediatrics. 1987. 80:555-560.
Juj H, Emery H. The arthropathy of Down syndrome: an underdiagnosed and under-recognized condition. J Pediatr. 2009 Feb. 154 (2):234-8. [QxMD MEDLINE Link].
Myers BA, Pueschel SM. Psychiatric disorders in persons with Down syndrome. J Nerv Ment Dis. 1991 Oct. 179(10):609-13. [QxMD MEDLINE Link].
Miles JH. Autism spectrum disorders--a genetics review. Genet Med. 2011 Apr. 13(4):278-94. [QxMD MEDLINE Link].
Kent L, Evans J, Paul M, Sharp M. Comorbidity of autistic spectrum disorders in children with Down syndrome. Dev Med Child Neurol. 1999 Mar. 41(3):153-8. [QxMD MEDLINE Link].
Rice C. Centers for Disease Control and Prevention. Prevalence of autism spectrum disorders—autism and developmental disabilities monitoring network, 14 sites, United States,2002. MMWR CDC Surveill Summ. 2007. 56:12-28.
Foley KR, Bourke J, Einfeld SL, Tonge BJ, Jacoby P, Leonard H. Patterns of depressive symptoms and social relating behaviors differ over time from other behavioral domains for young people with Down syndrome. Medicine (Baltimore). 2015 May. 94 (19):1-7. [QxMD MEDLINE Link].
Wisniewski KE, Wisniewski HM, Wen GY. Occurrence of neuropathological changes and dementia of Alzheimer's disease in Down's syndrome. Ann Neurol. 1985 Mar. 17 (3):278-82. [QxMD MEDLINE Link].
Fonseca LM, Yokomizo JE, Bottino CM, Fuentes D. Frontal Lobe Degeneration in Adults with Down Syndrome and Alzheimer's Disease: A Review. Dement Geriatr Cogn Disord. 2016. 41 (3-4):123-36. [QxMD MEDLINE Link]. [Full Text].
Esbensen AJ, Johnson EB, Amaral JL, Tan CM, Macks R. Differentiating Aging Among Adults With Down Syndrome and Comorbid Dementia or Psychopathology. Am J Intellect Dev Disabil. 2016 Jan. 121 (1):13-24. [QxMD MEDLINE Link]. [Full Text].
Driscoll DA, Morgan MA, Schulkin J. Screening for Down syndrome: changing practice of obstetricians. Am J Obstet Gynecol. 2009 Apr. 200(4):459.e1-9. [QxMD MEDLINE Link].
Summerfield P. Prenatal screening for Down's syndrome: balanced debate needed. Lancet. 2009 Feb 28. 373(9665):722. [QxMD MEDLINE Link].
Fransen MP, Hajo Wildschut, Vogel I, Mackenbach J, Steegers E, Essink-Bot ML. Information about prenatal screening for Down syndrome: ethnic differences in knowledge. Patient Educ Couns. 2009 Nov. 77(2):279-88. [QxMD MEDLINE Link].
Cuckle H. Biochemical screening for Down syndrome. Eur J Obstet Gynecol Reprod Biol. 2000 Sep. 92(1):97-101. [QxMD MEDLINE Link].
Nicolaides KH, Spencer K, Avgidou K, Faiola S, Falcon O. Multicenter study of first-trimester screening for trisomy 21 in 75 821 pregnancies: results and estimation of the potential impact of individual risk-orientated two-stage first-trimester screening. Ultrasound Obstet Gynecol. 2005 Mar. 25(3):221-6. [QxMD MEDLINE Link].
Kagan KO, Wright D, Baker A, Sahota D, Nicolaides KH. Screening for trisomy 21 by maternal age, fetal nuchal translucency thickness, free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol. 2008 Jun. 31(6):618-24. [QxMD MEDLINE Link].
Nicolaides KH. Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities. Am J Obstet Gynecol. 2004 Jul. 191(1):45-67. [QxMD MEDLINE Link].
Spencer K, Souter V, Tul N, Snijders R, Nicolaides KH. A screening program for trisomy 21 at 10-14 weeks using fetal nuchal translucency, maternal serum free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol. 1999 Apr. 13(4):231-7. [QxMD MEDLINE Link].
Dreux S, Olivier C, Dupont JM, Leporrier N, Oury JF. Maternal serum screening in cases of mosaic and translocation Down syndrome. Prenat Diagn. 2008 Aug. 28(8):699-703. [QxMD MEDLINE Link].
Natoli JL, Ackerman DL, McDermott S, Edwards JG. Prenatal diagnosis of Down syndrome: a systematic review of termination rates (1995-2011). Prenat Diagn. 2012 Feb. 32 (2):142-53. [QxMD MEDLINE Link].
Snijders RJ, Noble P, Sebire N, Souka A, Nicolaides KH. UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10-14 weeks of gestation. Fetal Medicine Foundation First Trimester Screening Group. Lancet. 1998 Aug 1. 352(9125):343-6. [QxMD MEDLINE Link].
Norton ME, Brar H, Weiss J, Karimi A, Laurent LC, Caughey AB, et al. Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol. 2012 Jun 1. [QxMD MEDLINE Link].
Barclay L. Maternal blood test may detect trisomy in first trimester‏. Medscape Medical News. June 7, 2013. Available at http://www.medscape.com/viewarticle/805519. Accessed: July 8, 2013.
Gil MM, Quezada MS, Bregant B, Ferraro M, Nicolaides KH. Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies. Ultrasound Obstet Gynecol. 2013 Jul. 42(1):34-40. [QxMD MEDLINE Link].
Nicolaides KH, Wright D, Poon LC, Syngelaki A, Gil MM. First-trimester contingent screening for trisomy 21 by biomarkers and maternal blood cell-free DNA testing. Ultrasound Obstet Gynecol. 2013 Jul. 42(1):41-50. [QxMD MEDLINE Link].
Palomaki GE, Kloza EM, Lambert-Messerlian GM, et al. DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study. Genet Med. 2011 Nov. 13(11):913-920. [QxMD MEDLINE Link].
Barclay L. Maternal blood test may detect trisomy in first trimester‏. Medscape Medical News, June 7, 2013. Available at http://www.medscape.com/viewarticle/805519. Accessed: July 8, 2013.
Gil MM, Quezada MS, Bregant B, Ferraro M, Nicolaides KH. Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies. Ultrasound Obstet Gynecol. 2013 Jul. 42(1):34-40. [QxMD MEDLINE Link].
Rupela V, Velleman SL, Andrianopoulos MV. Motor speech skills in children with Down syndrome: A descriptive study. Int J Speech Lang Pathol. 2016 Jan 11. 1-10. [QxMD MEDLINE Link].
Bunt CW, Bunt SK. Role of the family physician in the care of children with Down syndrome. Am Fam Physician. 2014 Dec 15. 90 (12):851-8. [QxMD MEDLINE Link]. [Full Text].
Tassone JC, Duey-Holtz A. Spine concerns in the Special Olympian with Down syndrome. Sports Med Arthrosc. 2008 Mar. 16 (1):55-60. [QxMD MEDLINE Link].
Diaz KM. Physical Activity and Sedentary Behavior Among U.S. Children With and Without Down Syndrome: The National Survey of Children's Health. Am J Intellect Dev Disabil. 2020 May. 125 (3):230-42. [QxMD MEDLINE Link].
Warburton D, Dallaire L, Thangavelu M, Ross L, Levin B, Kline J. Trisomy recurrence: a reconsideration based on North American data. Am J Hum Genet. 2004 Sep. 75(3):376-85. [QxMD MEDLINE Link].
Nussbaum RL, McInnes RR, Willard HF. Thompson and Thompson genetics in medicine. 6th Revised Reprint Edition. Philadelphia: W.B. Saunders; 2004.
Tolmie J. Down syndrome and other autosomal trisomies. Rimoin DL, Connor JM, Pyeritz RE, Korf BR. Emery and Rimoin’s Principles and Practice of Medical Genetics. 4th edition. 2002. 1129-1183.
Galleguillos C, Galleguillos B, Larios G, Menchaca G, Bont L, Castro-Rodriguez JA. Down's syndrome is a risk factor for severe lower respiratory tract infection due to respiratory syncytial virus. Acta Paediatr. 2016 Nov. 105 (11):e531-5. [QxMD MEDLINE Link].
Sugimoto D, Bowen SL, Meehan WP 3rd, Stracciolini A. Effects of Neuromuscular Training on Children and Young Adults with Down Syndrome: Systematic Review and Meta-Analysis. Res Dev Disabil. 2016 Apr 25. 55:197-206. [QxMD MEDLINE Link].

Media Gallery

Infant with Down syndrome. Note up-slanting palpebral fissures, bilateral epicanthal folds, flat nasal bridge, open mouth with tendency for tongue protrusion, and small ear with overfolded helix.
Child with Down syndrome. Note up-slanting palpebral fissures, bilateral epicanthal folds, small nose with flat nasal bridge, open mouth with tendency for tongue protrusion, and small ears with overfolded helix.
G-banded karyotype showing trisomy 21 (47,XY,+21).
G-banded karyotype showing trisomy 21 of isochromosome arm 21q type [46,XY,i(21)(q10)].
Hand of infant with Down syndrome. Note transverse palmar crease and clinodactyly of fifth finger.
Ear of infant with Down syndrome. Note characteristic small ear with overfolded helix.
Characteristic flat facies with hypertelorism, depressed nasal bridge, and protrusion of tongue, as well as single palmar simian crease in 2-year-old girl with Down syndrome. Image courtesy of L. Dourmishev, MD, PhD, DSc.
Small auricle and anomalies of folds in patient with Down syndrome. Image courtesy of L. Dourmishev, MD, PhD, DSc.
Palmar simian crease in patient with Down syndrome. Image courtesy of L. Dourmishev, MD, PhD, DSc.
Patient with Down syndrome with protuberant abdomen and umbilical hernia. Image courtesy of L. Dourmishev, MD, PhD, DSc.
Wide gap between first and second toes and onychomycosis in patient with Down syndrome. Image courtesy of L. Dourmishev, MD, PhD, DSc.
Hypodontia in patient with Down syndrome. Image courtesy of L. Dourmishev, MD, PhD, DSc.

of 12

Author

Gratias Tom Mundakel, MBBS, DCH Attending Neonatologist, Kings County Hospital; Clinical Assistant Professor, Department of Pediatrics, State University of New York Downstate Medical Center

Gratias Tom Mundakel, MBBS, DCH is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Nothing to disclose.

Coauthor(s)

Purushottam Lal, MD Resident Physician, Department of Pediatrics, Children's Hospital at SUNY Downstate

Purushottam Lal, MD is a member of the following medical societies: Delhi Medical Council, Indian Academy of Pediatrics

Disclosure: Nothing to disclose.

Specialty Editor Board

Lois J Starr, MD, FAAP Assistant Professor of Pediatrics, Clinical Geneticist, Munroe Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center

Lois J Starr, MD, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics

Disclosure: Nothing to disclose.

Chief Editor

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Additional Contributors

Harold Chen, MD, MS, FAAP, FACMG Professor, Department of Pediatrics, Louisiana State University Medical Center

Harold Chen, MD, MS, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics

Disclosure: Nothing to disclose.

Michael M Henry, MD Fellow in Neonatal/Perinatal Medicine, Children’s Hospital at SUNY Downstate Medical Center

Michael M Henry, MD is a member of the following medical societies: Brooklyn Pediatric Society

Disclosure: Nothing to disclose.

Acknowledgements

James Bowman, MD Senior Scholar of Maclean Center for Clinical Medical Ethics, Professor Emeritus, Department of Pathology, University of Chicago

James Bowman, MD is a member of the following medical societies: Alpha Omega Alpha, American Society for Clinical Pathology, American Society of Human Genetics, Central Society for Clinical Research, and College of American Pathologists

Disclosure: Nothing to disclose.

David Flannery, MD, FAAP, FACMG Vice Chair of Education, Chief, Section of Medical Genetics, Professor, Department of Pediatrics, Medical College of Georgia

David Flannery, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics and American College of Medical Genetics

Disclosure: Nothing to disclose.

Mary L Windle, PharmD, Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Down Syndrome Medication

Medication Summary

Analgesics, Other

Class Summary

Acetaminophen and codeine (Tylenol #3, Capital and Codeine)

Acetaminophen and codeine (Tylenol #3, Capital and Codeine)

Morphine sulfate (Duramorph, Astramorph, MS Contin, Oramorph SR)

Morphine sulfate (Duramorph, Astramorph, MS Contin, Oramorph SR)

Ibuprofen (Motrin, Advil, Caldolor)

Ibuprofen (Motrin, Advil, Caldolor)

Naproxen (Aleve, Anaprox, Naprosyn, Naprelan)

Naproxen (Aleve, Anaprox, Naprosyn, Naprelan)

Antidysrhythmics, Ia

Class Summary

Digoxin (Lanoxin)

Digoxin (Lanoxin)

Diuretics, Other

Class Summary

Furosemide (Lasix)

Furosemide (Lasix)

Hydrochlorothiazide (Microzide)

Hydrochlorothiazide (Microzide)

Metolazone (Zaroxolyn)

Metolazone (Zaroxolyn)

Down Syndrome Medication

Medication Summary

Analgesics, Other

Class Summary

Acetaminophen and codeine (Tylenol #3, Capital and Codeine)

Morphine sulfate (Duramorph, Astramorph, MS Contin, Oramorph SR)

Ibuprofen (Motrin, Advil, Caldolor)

Naproxen (Aleve, Anaprox, Naprosyn, Naprelan)

Antidysrhythmics, Ia

Class Summary

Digoxin (Lanoxin)

Diuretics, Other

Class Summary

Furosemide (Lasix)

Hydrochlorothiazide (Microzide)

Metolazone (Zaroxolyn)

References

Tables

Contributor Information and Disclosures

What would you like to print?