Munson Health
 
Down Syndrome

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by Wood D

(DS; Trisomy 21)

 

Symptoms

Infants born with Down syndrome may have some or all of the following physical features:
  • Flat facial features, a somewhat depressed nasal bridge and a small nose
  • Upward slanted eyes, small skin folds on the inner corner of the eyes
  • Short neck with loose skin
  • Misshaped and/or low set ears
  • White spots on the colored part of the eye
  • Single skin crease in the palm of the hand
  • Excess flexibility in joints
  • Sight and hearing problems
  • Large and protruding tongue
  • Excessive space between the large and second toe
The degree of medical problems and intellectual disability is different for each person. Talents, abilities, and pace of development will be different, too. People with Down syndrome may be born with or develop:
  • Vision problems
  • Hearing loss
  • Heart defects
  • Acute leukemia
  • Frequent ear infections
  • Instability of the back bones at the top of the neck, can result in compression injury of the spinal cord
  • Gastrointestinal obstruction
  • Hirschsprung disease, celiac disease
  • Sleep problems such as blocked airways during sleep, daytime sleepiness, sleep anxiety, and sleep walking
  • Increased incidence of dementia in older adults
  • Urinary system defects
  • High blood pressure in the lungs
  • Seizures
  • An under-active thyroid
  • Slow growth
  • Late to sit, walk, and toilet train
  • Speech problems
  • Obesity
  • Emotional problems
Most of these health problems are treatable. The majority of people born with Down syndrome have a life expectancy of about 55 years.
 

Diagnosis

Doctors can usually identify a child born with Down syndrome at birth. When Down syndrome is suspected, a blood test will be done to confirm it.
Down syndrome may also be diagnosed before birth. There are screening tests and diagnostic tests to help identify chormosome abnormalities before birth.

Diagnostic Tests

Diagnostic tests will tell if the fetus actually has Down syndrome. These tests include:
  • Chorionic villus sampling (CVS)—Usually done between 10 and 12 weeks
  • Amniocentesis —Usually done between 12 and 20 weeks of gestation
  • Percutaneous umbilical blood sampling (PUBS)—Usually done after 20 weeks
These tests are about 98%-99% accurate. Each test requires that a small piece of tissue be removed from the placenta or umbilical cord. This creates a small risk of miscarriage with these tests.
Amniocentesis
Fetus Chromosomes
Copyright © Nucleus Medical Media, Inc.
 

RESOURCES

National Down Syndrome Congress
http://www.ndsccenter.org

National Down Syndrome Society
http://www.ndss.org

 

CANADIAN RESOURCES

Canadian Down Syndrome Society
http://www.cdss.ca

Health Canada
http://www.hc-sc.gc.ca

 

References


Behrman RE, Kliegman R, Jenson HB. Nelson Textbook of Pediatrics . 18th ed. Philadelphia, PA: Saunders; 2007.


Benn P, et al. Prenatal detection of Down syndrome using massively parallel sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, 24 October 2011. Prenat Diagn . 2012;32:1-2.


Committee opinion No. 545: noninvasive prenatal testing for fetal aneuploidy. Obstet Gynecol . 2012;120(6):1532-4.


Down syndrome. EBSCO DynaMed website. Available at: https://dynamed.ebscohost.com/about/about-us . Updated November 2, 2012. Accessed May 21, 2013.


Down syndrome. National Down Syndrome Society website. Available at: http://www.ndss.org/Down-Syndrome . Accessed May 21, 2013.


Down Syndrome. National Institute of Child Health and Human Development website. Available at: http://www.nichd.nih.gov/health/topics/down/Pages/default.aspx . Updated April 3, 2013. Accessed May 21, 2013.


Ferri F, ed. Ferri’s Clinical Advisor 2010 . Philadelphia, PA: Mosby Elsevier; 2009.


Malone FD, Canick JA, Ball RH, et al. First- and second-trimester evaluation of risk (FASTER) research consortium. First-trimester or second-trimester screening, or both, for Down's syndrome. N Engl J Med . 2005;353:2001-2011.


3/12/2010 DynaMed's Systematic Literature Surveillance https://dynamed.ebscohost.com/about/about-us : Carter M, McCaughey E, Annaz D, Hill CM. Sleep problems in a Down syndrome population. Arch Dis Child. 2009;94(4):308-310.

 

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