Down Syndrome: Causes, Symptoms And Treatment

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Introduction

When Paula had her son, Keaton, they didn’t know that there was a little something special about him. When Keaton was born, he looked a bit different from the normal baby, but Paula’s family physician dismissed her family’s concerns and insisted that he was a healthy, normal child. When Keaton was seven months old, Paula decided to submit him to a blood test to curb her concerns. As it turns out, Paula’s suspicions were right- Keaton had Down Syndrome. Paula knew nothing about Down Syndrome, if her little boy was gonna be alright, or what she needed to do to raise him safely. When having a child with Down Syndrome, it’s important to know about the condition and the highs and lows that come with such a life changing (Centers, N.D.).

Causes

Down Syndrome is a chromosomal condition that mainly occurs during the growth and development of a fetus. It is caused by Trisomy 21. Trisomy 21 is when each cell in an individual’s body has a third copy of chromosome 21. When the body has an extra copy of a chromosome, and in this case- an extra copy of chromosome 21, it can alter and interrupt the process of normal growth and development in infants and children (Genetics, 2012).

Symptoms

Down Syndrome can affect the body in many different ways. Typically associated with Down Syndrome patients include birth defects and delayed development. Various heart problems and heart defects are also popular with Down Syndrome patients. A few other examples of symptoms include digestive problems, hearing problems, and behavioral problems such as attention problems, obsessive/compulsive disorder, and tantrums (Genetics, 2012).

Incidence

Down Syndrome is currently the most common chromosomal condition that is diagnosed in the United States in children, especially boys. About 1 in 800 newborns that are born have Down Syndrome, and there are about 5300 babies born each year that have Down Syndrome. Currently, in the United States, there are about 200,000 people with the condition (Genetics, 2012).

Inheritance

Currently, it has been established that Down Syndrome does not get inherited through genetics, meaning, that it does not run in families. The condition is the result of a chromosomal error since there is an extra chromosome. Down Syndrome usually occurs at random, and the chromosomal error mainly occurs in the eggs of women than in the sperm in men. When it does occur, an egg or sperm when multiplied may have an extra copy of the chromosome 21 and can give it to offspring when fertilized. The parents may have this error in one sex cell, but not have the disease (Gentics, 2012).

Diagnosis

When diagnosing Down Syndrome, healthcare providers have the options to do it in a number of different ways during pregnancy. Some tests they run can include a prenatal screening test, which can only show if there is an increased chance of Down Syndrome- but it cannot determine if it is present. If there is an increased chance, then a prenatal diagnostic test may be ordered, which is a test that can determine with certainty is Down Syndrome is present. It is a test in which a genetic sample is removed from the fetus. Although, unlike the screening test, the prenatal diagnostic test has a slightly greater risk to harm the baby. There are different types of diagnostic tests, such as an amniocentesis test, which is when amniotic fluid is removed and tested for an extra chromosome 21. This test cannot be performed until the 14-18th week of pregnancy. Another diagnostic test includes a percutaneous test, which is when a sample of fetal blood is taken out through the umbilical cord and tested for the extra chromosome. Unlike the amniocentesis test, it cannot be performed until the 18-22nd week of pregnancy. Other tests that can be performed include an ultrasound test, which is when the back of the fetus’s neck is checked for fluid- which is a great indicator of Down Syndrome (Eunice…How, N.D.).

Treatment

While there are a variety of ways to treat Down Syndrome, there is no cure (Medline, 2018). There are no single or standard treatments for the condition. Treatments are mostly long-term, with a few surgeries here and there for different problems. When a newborn with Down Syndrome is born, he/she may require immediate care or treatment right after their birth. Down Syndrome patients can receive care or help from different personnel such as physicians, special educators, speech therapists, occupational therapists, and physical therapists. Some examples of treatments include physical therapy, speech/language therapy, occupational therapy, and emotional or behavioral therapy. Physical therapy can help build motor skills, increase the child’s muscle strength, and improve their posture and balance. Speech/language therapy can help Down Syndrome children learn proper communication skills, and can help them use language effectively. Occupational therapy can help adjust everyday tasks to match the child’s needs and abilities, and can help the patient learn self-care skills. Emotional or behavioral therapy can help children deal with their emotions and help build their coping skills and mechanisms (Eunice…What, N.D.).

Discovery and Current Research

Down Syndrome was first discovered in 1866, by John Langdon Brown, who first successfully classified the symptoms and causes of the condition as Down Syndrome (Down, N.D.). Over the years, different clinical trials have been performed to help better the lives of people who live with Down Syndrome. Currently, the relationship between Down Syndrome and Alzheimer’s has been looked into. Scientists have been identifying signs in the blood that track Alzheimer’s in people with Down Syndrome (Down…Alzheimer’s, N.D.).

Support

There are many different support groups and resources that help people with Down Syndrome, but the most well-known and popular group is the National Down Syndrome Society. NDSS is a non-profit organization that helps people with Down Syndrome by providing them with information regarding their condition, treamments, and lifestyle (Genetics, 2012). In Wichita KS, the Down Syndrome Society of Wichita is a local support group for citizens with Down Syndrome. They help raise awareness for people with Down Syndrome and provide resources for people and families to reach out to when they may need help or have questions (Improving, N.D.).

Promotion

There are many public figures in the Hollywood movie industry that either have or raise awareness for Down Syndrome. Some of these people include fashion model Jamie Brewer and actress Lauren Potter. Jamie Brewer was the first woman with Down Syndrome to walk down the runway at New York fashion week. She has been working with the Texas lawmakers to try and ban the use of the word retarted. Lauren Potter is a well-known actress who uses her platform to speak out against bullying and prejudice against people with Down Syndrome (Bevan, 2016).

Conclusion

Overall, Down Syndrome can seem like a scary thing when it comes to having children. But with the right resources and education about the condition, children like Keaton can live long and happy lives with the people they love. It’s important to treat people with Down Syndrome like normal people, and to not shun them- but instead help them (Centers, N.D.).

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