Down Syndrome

By: Jordan Handlin

What is Down Syndrome?

Down syndrome is a fairly common disorder which also has other names such as: Trisomy 21, Trisomy G, “47, XX, +21,” “47, XY, +21,” and the most common one, Down Syndrome.

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What Causes Down Syndrome?

Down Syndrome is caused by Nondisjunction. Nondisjunction is the miscalculation in meiosis when the chromosomes fail to separate accurately. In this case, the sperm or egg usually inherits an extra copy of Chromosome 21.

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Are there Prenatal Tests for Down Syndrome?

Yes, there are a lot of ways you can find out if your baby will have Down Syndrome before the baby is born. Prenatal screenings is what determines if your baby will have Down Syndrome. Many Diagnostic Tests can be recorded and finalized and can predict 100% accuracy on whether or not your child will have Down Syndrome or not. Diagnostic Tests include Amniocentesis and Chorionic Villus Sampling. The prenatal screenings most likely involve an ultrasound and blood tests.

Symptoms of Down Syndrome?

Intellectual Symptoms: Slow learner, delayed speech and language, impulsive behavior, poor judgement, short attention span, difficulty thinking and understanding. Physical Symptoms: Flattened face or nose, heart disease, short neck, small head, short height, tiny white spots on the iris of the eye called Brushfield spots, excessive flexibility, small hands and feet, poor muscle tone, and unusually shaped or small ears.

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What Genes or Chromosomes are Affected by Down Syndrome?

A gene or chromosome that is effected is an egg or a sperm cell that will have an extra copy of Chromosome 21. The reason Down Syndrome is also called Trisomy 21 because there are three of Chromosome 21.

What Population is Affected?

Down Syndrome is the most common genetic disorders in the United States of America. 1 in 800 children will be born with Down Syndrome. About 6,000 infants are born with this genetic disorder in the United States. It is estimated that 85% of children born with Down Syndrome will only survive the first year. While 50% of children born with Down Syndrome will live longer than 50 years. There is about 400,000 people around the US that has Down Syndrome.

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Can Anyone be a Candidate for Down Syndrome?

Yes anyone can have a chance to have Down Syndrome because it is not a inherited genetic disorder.

How is Down Syndrome Inherited?

Most of the cases of Down Syndrome are not inherited. Down Syndrome is caused by an abnormality on Chromosome 21. Down Syndrome occurs at any point in time of the event in which during cell division.

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

A child with Down Syndrome will need health care from many different health professionals. Some of these professionals may include: Physicians, Speech, Occupational, and Physical Therapists. Children and adults with Down Syndrome are very likely to be at risk with health problems than other normal children and adults that do not have Down Syndrome. Many children are born with Down Syndrome at birth and many will need care and assistance right away after birth.

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

Yes, a child with Down Syndrome has many difficult health problems and as they grow older they continue to grow and get worse. Children and adults with Down Syndrome are prone to a lot more diseases than other children and adults that do not have Down Syndrome. Some of these diseases may include: Heart defects, vision problems, hearing loss, blood disorders, spinal issues, infections, epilepsy, sleeping disorders, dental issues, and mental and emotional problems and behaviors.

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What is the Long Term Outlook for the Child with Down Syndrome?

Unfortunately, the child with Down Syndrome will live their life with many health and other issues. These issues can be both major and minor. The child will live their life getting medical treatment and visiting many hospitals many times in order to get tests done to make their daily life easier for them to live.

Are there Treatments or Cures?

There is no treatments or cures for Down Syndrome. The people that do have Down Syndrome will have different treatments based on their physical and intellectual needs as well as their strengths and abilities. There are treatments such as, physical therapy, speech therapy, these treatments do not cure the disease but will help them throughout their lifespan.

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Could Down Syndrome Have Been Prevented?

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

Can an Individual with Down Syndrome Have Children In the Future?

Individuals with Down Syndrome hardly reproduce (have children). 15%-30% of women with Down Syndrome have a chance of having an infant.

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Will Those Children be Affected?

Yes, the individual born from the mother with Down Syndrome will have a 15%-30% chance of having Down Syndrome.

What is the Current Status of Research on Down Syndrome?

There hadn’t been any major discoveries upon this disease but they have found some observations and ideas. They are beginning to test small molecules that would reproduce the APP protein levels in mice that would begin to lead to the improvement of minds cognition and abilities.

Is there a Cure or New Treatment Coming Soon?

Currently, doctors have not found a cure for Down Syndrome. Hopefully with newer technology in the future that we are beginning to create that scientists and researchers will begin to get closer and closer to find a cure for Down Syndrome.

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