Down Syndrome

By: Kylie Tucker

Down Syndrome

Down Syndrome is fairly common genetic disorder and has a few other names. Those names include:

  • 47, XX,+21

  • 47, XY,+21

  • Down's syndrome

  • Trisomy 21

  • Trisomy G

What Causes Down Syndrome?

Down Syndrome is caused by Nondisjunction. Nondisjunction is an error in meiosis when the chromosomes fail to separate correctly. The egg or sperm cell might inherit an extra copy of chromosome 21.

What gene is affected by Down Syndrome?

An egg or sperm cell will have an extra copy of Chromosome 21. Down Syndrome is called Trisomy 21 because there are three of Chromosome 21.
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Are there Prenatal Tests for Down Syndrome?

Yes, there are many ways you can find out the possibility of your baby having Down Syndrome before it is born. However, you will not be able to finalize whether your baby will have Down Syndrome or not. Prenatal screenings are what determine the possibility of your baby having Down Syndrome or not. Diagnostic Tests can predict almost 100% accuracy on whether or not your child will have Down Syndrome. The Prenatal Screenings involve a blood test and an ultra sound. Some Diagnostic Tests include Amniocentesis and Chorionic Villus Sampling.

Symptoms

Physical Symptoms:
  • Poor Muscle Tone (Take longer to learn to roll over, sit, stand, and walk)
  • Short Neck
  • Flattened Face and Nose
  • Small head, ears, and mouth
  • Eyes will slant upward
  • White spots on the colored part of the eye
  • Wide short hands and short fingers
  • Deep groove between the first and second toes
  • Slower development
  • Hearing Problems
  • Eyesight issues
  • Skeletal Problems
  • Heart Disease

Intellectual Symptoms:

  • Short attention span
  • Poor judgement
  • Impulsive behavior
  • Slow learner
  • Delayed speech and language
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What population is affected?

Down Syndrome is the most common genetic disorder in the United States. 1 in 800 infants are born with Down Syndrome. About 6,000 babies with Down Syndrome are born a year in the US. It is estimated that 85% of babies born with Down Syndrome will survive the first year and about 50% will live longer than 50 years. There are about 350,000 people living in the US with Down Syndrome.

Can anyone be a candidate for Down Syndrome?

Yes, anyone can have Down Syndrome because it is not an inherited genetic disorder.

How is Down Syndrome Inherited?

Most Cases of Down Syndrome are not inherited. Down syndrome is caused by an abnormality on Chromosome 21. Down Syndrome occurs as a random event during cell division.

What kind of Medical Assistance will the Child With Down Syndrome Need?

A child with Down Syndrome will need Health Care from many health professionals. These professionals may include: physicians, special educators, speech, occupational, and physical therapists, as well as social workers. Children with Down Syndrome are more at risk for other health problems than others who do not have Down Syndrome. Most children born with Down Syndrome will need immediate care right after birth.

As the Child Grows Older, Will They Need More Assistance?

Yes, a child with Down Syndrome is prone to a lot more diseases than those without Down Syndrome. Some of those diseases include: Heart defects, vision problems, hearing loss, infections, blood disorders, poor muscle tone, spinal issues, sleep disorders, epilepsy, dental problems, digestive issues, and mental and emotional problems.
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What is the Long Term Outlook for the Child?

A child born with Down Syndrome will live their life with many issues. These issues could either be major, minor or both. The child will most likely live their life going in and out of hospitals getting procedures done to try to make their daily life easier.

Treatments or Cures?

There is no real treatment or cure for Down Syndrome. Everyone who has Down Syndrome will have different treatments based on their physical and intellectual needs as well as their personal strengths and abilities. Some treatments the individuals might be involved with are speech therapy, along with emotional and behavioral therapy. These treatments do not cure the disease, but they do help make the lives of the individuals with Down Syndrome a little bit easier.

Could Down Syndrome have been Prevented?

Down Syndrome can not be prevented because it is not inherited, it is just an abnormality on Chromosome 21 caused when the cells divide.

Could the Individual With Down Syndrome have Children in the Future?

Individuals who have Down Syndrome rarely reproduce. Most Down Syndrome women are fertile; However, 15%-30% of women with Down Syndrome have a chance of having a child with Down Syndrome. Individuals with Down Syndrome also tend to have a shorter life span which also prevents a pregnancy from an individual with Down Syndrome of being a very easy process.

Will Those Children be Affected?

Yes, the children born from an individual with Down Syndrome have a 15%-30% chance of being diagnosed with Down Syndrome.

What is the Current Status of Research on Down Syndrome?

The researchers have not made any major advances but they have made some observations and have some ideas. They are testing small molecules and compounds that would reduce the APP Protein levels in mice that would lead to the improvement of the minds cognition and abilities.

Is There a Cure or New Treatment Coming Soon?

Doctors have not yet figured out a way to cure Down Syndrome. However, hopefully with the new technology these days, scientists and researchers are getting closer and closer everyday to find a cure for Down Syndrome.