Down Syndrome Interactive Image - Sophia Shinka

Introduction to Down Syndrome

Genetic Information

Symptoms of Down Syndrome

Informative Video

Advancements/Treatments/Current News

Key Vocabulary

Sources Used

Summary of reasearch

DOWN SYNDROME

Down Syndrome is not usually a hereditary disorder. It is caused by a mutation in the cell division during the early development of the fetus. The most common form of Down Syndrome, Trisomy 21, is not hereditary, but the other forms such as translocation, and mosaicism could be hereditary. Down Syndrome is a chromosomal disorder, which means the person's chromosomes are a beneficial factor. The most common factor of Down Syndrome is the person has an extra copy of chromosome 21. The person could have it in all or some chromosome 21 cells. The best way to see this is through a karyotype, like the one pictured below.

A diagnosis of Down syndrome motivates a family to go the extra mile The people who are diagnosed with down syndrome do not have it easy when it comes to health. Their health is a big factor throughout life. There are some complications that can come as they grow older. Yet there are a lot of symptoms that they have to manage from birth. They have both internal and external symptoms.

• EXTERNAL

Small features (head, facial features, limbs, and height)

• INTERNAL

Mental delays (speech, learning, auditory) Problems with sleeping (bedwetting, going to sleep) Attention issues

• Complications

Heart defects Gastrointestinal defects Immune disorders Sleep apnea Obesity Spinal problems Leukemia Dementia

Down Syndrome is a genetic disorder where the recipient is born with an extra chromosome. The extra chromosome is grouped with chromosome 21. There are 3 different types of Down Syndrome. There is Trisomy 21 which is the most common and affects 95% of people who are diagnosed. Then there is Translocation which only affects 4% of people who are diagnosed. Then the final type is called Mosaicism which only affects 1% of those who are diagnosed. Down Syndrome is not uncommon. There are approximately 6,000 diagnoses every year, which is about a 1 in 700 chance of getting the genetic disorder. It is more common to have Down Syndrome if the mother is over the age of 35. Though it doesn't affect any particular race or culture.

There is more research, resources, and education available to help families manage and cope with Down Syndrome. Even though there is no cure for Down Syndrome, there are ways to help those with it. For people who have heart defects caused by Down Syndrome, treatment can include medicine or surgery. Surgery is used for the more extreme cases. Intestinal issues are another symptom that could be treated/reversed with surgery. For vision or hearing loss, the preferred treatment is routine tests, hearing aids, or glasses. Learning disabilities are something that people associate with Down Syndrome when they think of it. Because of this, there are many ways that this disability can be helped. There are different learning programs and different camps that specialize in people with Down Syndrome or learning disabilities. An article from NIH in 2018, explains some advancements they are using to find more information about Down Syndrome. Here is the segment from the article, "Using a mouse model for Down syndrome, NICHD researchers showed that by administering neuroprotective peptides (small protein subunits) to mice before birth, they perform better on memory and learning tasks as adults. The peptides, NAP and SAL, are subunits of two proteins that are important in brain development because they enhance the ability of brain cells to receive and transmit signals, and enable them to survive". Full article: Down Syndrome: Research Activities and Scientific Advances

Here is a list of some of the key vocabulary that was used throughout the research. All the definitions were found in the Merriam-Webster Dictionary.

• Down Syndrome - A congenital condition characterized especially by developmental delays, usually mild to moderate impairment in cognitive functioning, short stature, upward slanting eyes, a flattened nasal bridge, broad hands with short fingers, decreased muscle tone, and by trisomy of the human chromosome numbered 21

• Chromosome - Any of the rod-shaped or threadlike DNA-containing structures of cellular organisms that are located in the nucleus of eukaryotes, are usually ring-shaped in prokaryotes (such as bacteria), and contain all or most of the genes of the organism

• Genetic Disorder - A genetic disorder is a disease caused in whole or in part by a change in the DNA sequence away from the normal sequence

• Genetic Mutation - A permanent alteration in the nucleotide sequence of one or more genes or in the number or structure of one or more chromosomes

• Fetus - An unborn or unhatched vertebrate especially after attaining the basic structural plan of its kind

After taking a deeper and more scientific look into Down Syndrome; I learned many things. I learned what it is and how it is caused. I now know it is a genetic disorder that is caused by an extra chromosome. I learned that it cannot be cured but it can be prevented. It can be prevented by having a child earlier. I also learned that Down Syndrome isn't something to be afraid of. The people who have Down Syndrome are very brave and strong. I learned the terminology they prefer to use. For instance, people with Down Syndrome should always be referred to as people first. They aren't things, they are regular human beings who just have a chromosomal mutation disorder. They are also people who have a disorder or syndrome, not a disease. Down Syndrome is becoming more a more researched syndrome. Hospitals like Boston's Children's Hospital and Stanford Children's Hospital are learning more and more about the syndrome. They are caring for patients who have the mutation and they are giving them the best care. If you or a loved one has Down Syndrome or any genetic mutation disorder, take a look at their websites.

• Boston Children's Hospital
• Stanford Children's Health

Still, after reading and searching about the disorder, there are some questions that someone may have. I'm going to try and answer them. This is the question and answer portion: Q: Are there special programs for someone with Down Syndrome? A: Yes! There are many programs for people with Down Syndrome. The programs can help them with social skills, learning, and having a sense of community. Q: Do people of all ethnic groups and of all economic levels have Down syndrome? A: No. Down Syndrome is a genetic disorder. This means it can happen to anyone. It does not target a specific economic class or race. Q: I’ve heard that people with Down syndrome don’t live long — what is the life expectancy? A: The life expectancy of someone with Down Syndrome is somewhere in the 60s. They can live longer or shorter, but the average age is 60 years of age.