Down Syndrome

by: Shellie Kearney

What other names are there for this disorder?

The condition commonly known as Down Syndrome is also known as Trisomy 21.

What causes the disorder?

Down Syndrome is caused by autosomal nondisjunction.

What gene or chromosome is affected by this disorder?

The 21st chromosome is affected by this disorder. In this condition, there is an extra copy of chromosome 21.

Are there prenatal tests for this disorder?

Yes, one type of test that can be used us a screening test. During a screening test a blood sample is taken from the mother, which is then tested for amounts of certain chemicals such as MS-AFP, Triple Screen, and Quad-screen. After the blood work is done, an ultrasound will be taken and the doctors will look for fluid behind the baby's neck, as too much fluid can indicate a genetic disorder.

If the screening test comes back positive, a diagnostic test is performed. Some diagnostics tests include Amniocentesis, CVS, and PUBS. In some of these tests fluid from the sac surrounding the child is tested, placenta material is examined, and blood from the umbilical cord is examined. After both the screening and the diagnostic tests are complete, the doctors will know if the child has Down Syndrome.

What are the symptoms?

Physical symptoms:
  • flattened face
  • almond shaped eyes that slant upward
  • small ears
  • short neck
  • shorter height

People with Down Syndrome are more at risk for:

  • hearing loss
  • obstructive sleep apnea, where breathing stops during sleep
  • ear infections
  • eye diseases
  • heart defects at birth
  • Alzheimer disease

What population is affected?

1 in 691 live births every year is a birth to a child with Down Syndrome.

Can anyone be a candidate for the disorder?

Yes, anyone can be a candidate for this disorder because it is not inherited, it is caused by an error. This means that no one in your family has to have Down Syndrome for you to have it. On the other hand, some people carry the genetic translocation for Down Syndrome, making their children more susceptible to having Down Syndrome. Also, older mothers have a higher chance of having a child with Down Syndrome.

What kind of medical assistance will the affected child need?

Children with Down Syndrome will most likely need speech, occupational, and physical therapy's early in life. They also need extra help and attention in school. When people with Down Syndrome grow up, many can live a normal and healthy life. Many adults with Down Syndrome can live on their own, although they need to stay connected with family and doctors.

Are there any treatments or cures?

There are no specific cures for Down Syndrome, but there are many things that can be done to reduce the harmful impacts of the condition. Some of these things include speech, physical, occupational, and emotional and behavioral therapy. Also, some people with Down Syndrome take medicines such as amino acid supplements that help with their brain activity. This disorder cannot be prevented.

Can this individual have children in the future?

Only about 15-30% of women with Down Syndrome are able to have children, and if they do have children, their kids have a 50% chance of having the disorder. There have been no records of a male with Down Syndrome reproducing.

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