Down Syndrome

By: Emma Friedewald

What is the name of the genetic disorder? What other names are there for this disorder?

The most common name for this disorder is down syndrome, but it is also called Trisomy 21.

What causes the disorder?

A third copy of chromosome 21 is present because of an abnormal cell division.

What gene or chromosome is affected by this disorder?

Chromosome 21

Are there prenatal tests for this disorder?

A diagnostic test can be performed before the baby is born to see if the baby has down syndrome or not.

What are the symptoms?

  • Delayed development
  • Learning disability
  • Speech delay in a child
  • Lazy eyes or spots
  • Difficulty thinking or understanding
  • Obesity
  • Sleep apnea

What population is affected?

6,000 babies in the U.S. are born with down syndrome every year.

Can anyone be a candidate for the disorder?

Since this is a birth disorder, anyone can be a candidate for it.

How is it inherited?

Down syndrome isn't necessarily inherited since it's a disorder within chromosomes.

What kind of medical assistance will the affected child need?

  • Physical exercise
  • Occupational therapy
  • Physical therapy
  • Support group

Will further assistance be needed, as the child grows older?

The same treatments will occur throughout the child's entire life.

What is the long-term outlook for the child?

Children with down syndrome live with struggles with speech, vision and hearing on a daily basis, which will continue throughout their entire life. Most live until they are 30-40 years old.

Are there any treatments or cures?

There is no cure for down syndrome, but there are treatments to help.

Could this disorder have been prevented?

There is no way to prevent down syndrome, it is simply a birth disorder that is uncontrollable.

Can this individual have children in the future?

An individual with down syndrome can have children, however the fertility rate is lower.

Will those children be affected?

There is a greater chance of the child being affected than not, but there is still a chance of the child not inheriting down syndrome from their parents. Most parents with down syndrome choose not to have children because of the responsibility and work it takes to raise a child along with the challenges they face on their own.

What is the current status of research on this disorder?

Although there is still no cure, researchers are finding new treatments and working on therapies for people with down syndrome.

Is there a cure/new treatment coming soon?

There are currently no cures coming soon, but there is always room for improvement with treatments.