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Down Syndrome

THE BASICS

Down syndrome is the most common genetic disorder associated with intellectual and developmental disabilities. Chromosomes are one of the genetic building blocks for people, they are structures within cells that contain a person's genes. We have 23 pairs of chromosomes. Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21.

What is

Down Syndrome?

VIDEO/ILLUSTRATION

How do you explain Down syndrome to kids?

Characteristics

Diagnosis

  • Distinct facial appearance
  • A flattened face, especially the bridge of the nose.
  • Almond-shaped eyes that slant up.
  • A short neck.
  • Small ears.
  • A tongue that tends to stick out of the mouth.
  • Tiny white spots on the iris (colored part) of the eye.
  • Small hands and feet.
  • Intellectual disability
  • Developmental delays
  • Can be associated with thyroid or heart disease
  • Poor muscle tone or loose joints
  • Shorter in height as children and adults

How is Down Syndrome Diagnosed?

Screening Tests

  • ultrasound

Diagnostic Tests

  • Chorionic villus sampling (CVS)—examines material from the placenta
  • Amniocentesis—examines the amniotic fluid (the fluid from the sac surrounding the baby)
  • Percutaneous umbilical blood sampling (PUBS)—examines blood from the umbilical cord

Statistics

  • One in every 700 babies in the United States is born with Down syndrome, making Down syndrome the most common chromosomal condition.
  • About 6,000 babies with Down syndrome are born in the United States each year.
  • Down syndrome occurs in people of all races and economic levels
  • Older women have an increased chance of having a child with Down syndrome.

  • A 35 year old woman has about a one in 350 chance of conceiving a child with Down syndrome, and this chance increases gradually to 1 in 100 by age 40.
  • At age 45 the incidence becomes approximately 1 in 30.

Maternal Age Link

Early Intervention

  • A system of services designed to help infants and toddlers with disabilities (before their 3rd birthday) and their families. It’s mandated by federal law—the Individuals with Disabilities Education Act (IDEA), the nation’s special education law.

Special Education Laws

IDEA

The Individuals with Disabilities Education Act is a piece of American legislation that ensures students with a disability are provided with a Free Appropriate Public Education that is tailored to their individual needs.

National Down Syndrome Organizations

National Down Syndrome Organizations

Massachusetts Down Syndrome Congress

Massachusetts

In the News

News

References

References

  • Centers for Disease Control and Prevention. (2021, April 6). Facts about down syndrome. Centers for Disease Control and Prevention. Retrieved from https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html
  • Down syndrome. Center for Parent Information and Resources. (n.d.). Retrieved from https://www.parentcenterhub.org/downsyndrome/
  • Global Down Syndrome Foundation. (2018, July 23). National down syndrome organizations in the U.S. Global Down Syndrome Foundation. Retrieved from https://www.globaldownsyndrome.org/about-down-syndrome/resources/national-down-syndrome-organizations-2/
  • Oliver, D. (2022, February 25). 'changed my life for the better': What people with down syndrome (and their families) wish you knew. USA Today. Retrieved from https://www.usatoday.com/story/life/health-wellness/2022/02/25/down-syndrome-what-they-wish-you-knew/6907899001/
  • Run up for Down Syndrome. Down Syndrome Research Foundation - Together. Hand in Hand. (n.d.). Retrieved from https://www.dsrf.org/
  • Understanding a down syndrome diagnosis. Understanding a Down Syndrome Diagnosis. (n.d.). Retrieved from https://understandingdownsyndrome.org/
  • What is Down Syndrome?: National down syndrome society. NDSS. (2022, January 3). Retrieved from https://www.ndss.org/about-down-syndrome/down-syndrome/
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