Many people take for granted their health, looks, and basic everyday activity. They never take a second and realize how lucky they are. Some individuals don’t get to choose the way they look or control the way they act. Down syndrome is a disorder that affects chromosome 21. The individual either has a full or partial extra copy of chromosome 21. The effects the individual has because of the extra material is, slowed development, many health problems, and behavioral issues. Down syndrome ultimately affects the individual both mentally and physically.
Down syndrome has many different causes, the most common cause is having three copies of chromosome 21 in each body cell instead of only two. The least common cause is when part of chromosome 21 attaches to another chromosome during the development of reproductive cells. The actual cause for the extra chromosome material is unknown (Down Syndrome-Genetics Home Reference).
Down syndrome has three different types, Trisomy 21, Mosaicism, and Translocation. Trisomy 21 Down syndrome is when an embryo has three copies of chromosome 21 instead of two. Usually before or at conception, a pair of chromosome 21 fails to separate in either the sperm or egg. The extra chromosome replicates in every body cell as the embryo grows. Trisomy 21 makes up 95% of Down syndrome individuals. Mosaicism Down syndrome otherwise known as Mosaic Down syndrome happens when there is a mixture of two types of cells. Some contain forty-six chromosomes and others contain forty-seven chromosomes. Mosaic Down syndrome is the least common Down syndrome making up only 1% of Down syndrome individuals.
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With research it has been determined that an individual with Mosaic Down syndrome shows less characteristics than someone with a different type. Although, there’s no way to 100% guarantee this due to how many different defects Down syndrome carries. Lastly there’s Translocation and it’s a bit different from the other types. The total number of chromosomes is forty-six like normal, but extra material: whether it is full or partial, attaches to a different chromosome. It generally attaches to chromosome 14. The characteristics of Down syndrome are actually caused by the full or partial extra material of chromosome 21 (“What Is Down Syndrome”).
Usually individuals with Down syndrome have a greater risk of developing multiple medical conditions including gastroesophageal reflux and celiac disease. Gastroesophageal reflux is when your stomach contents have a backup into your esophagus. Celiac disease is when you are either sensitive or allergic to gluten. About 15% of individuals with Down syndrome have a condition called hypothyroidism. Hypothyroidism is when your thyroid gland does not function as it should. Individuals affected by Down syndrome also have a higher chance of hearing and vision issues. Adding to the list small children can also develop leukemia. Down syndrome children also often have behavioral problems and delayed development. Usually they develop speech and language skills slower than most children and they may be harder to understand. It also takes them much longer to sit, crawl and walk (Down Syndrome-Genetics Home Reference).
When it comes to behavioral issues, individuals with down syndrome usually have attention problems, stubbornness or tantrums, and obsessive/compulsive behaviors. A small percentage of Down syndrome individuals can also be affected by a developmental condition called autism spectrum disorder which affects their communication and social skills. Around the age of fifty individuals with Down syndrome often experience a decrease in their thinking ability. Alzheimer’s disease is a brain disorder that individuals with Down syndrome have an increased risk for. Unfortunately Alzheimer’s disease affects approximately half of Down syndrome adults by the time they are 50 or 60 years old (Down Syndrome-Genetics Home Reference).
There are a couple risk factors that parents could have that would mean they would have a child with Down Syndrome. One of them is the age a woman conceives, older women have a higher risk of having a child with Down syndrome. This is because older eggs have a higher chance of cell division complications. The age when women start having a higher risk is 35 and higher. Oddly enough most Down syndrome babies are born to women under 35 because younger women have a higher birth rate. The second is the risk of having another baby with Down syndrome if you already have a child with the condition. Having one child with Down syndrome does not 100% guarantee you to have a second with Down syndrome.
However, if one of the parents carries a gene for the syndrome you will have an increased risk. Parents can find out if they are at risk of having more children with Down syndrome by going to a genetic counselor (Down Syndrome-Mayo Clinic). Most Down syndrome individuals did not inherit their condition. The chromosomal defect occurs as a random event during the development of reproductive cells. Usually the defect occurs in egg cells, very seldom does it occur in sperm cells (Down Syndrome-Genetics Home Reference).
About 1in 800 newborns are born with Down syndrome. In the U.S each year about 5,300 babies are born with Down syndrome and roughly 200,000 people in the country have it (Down Syndrome-Genetics Home Reference). It is surprising how drastically the lifespan of Down syndrome individuals have increased over the years. Today an individual with Down syndrome can live past sixty depending on the extent of their health problems (Down Syndrome-Mayo Clinic).
Down Syndrome individuals can have many complications, a few of them are heart defects, gastrointestinal defects, sleep apnea, and spinal problems. Most children with Down syndrome are born with some extent of heart defect. Depending on how severe the problem the child could need life saving surgery. Gastrointestinal defects (GI) sometimes occur in children with Down syndrome and usually the defects are to the anus, esophagus, intestines, and the trachea. They may have an increased risk of GI blockage which is a digestive problem.
Sleep apnea does not affect all Down syndrome individuals. When an individual with Down syndrome is affected by it, they develop a blockage in their airway because of their soft tissue and skeletal defects. With spinal problems if individuals with Down syndrome have it, it affects the top two vertebrates in their neck. Usually they are misaligned and this causes them to have a higher risk of over extending their neck. If they overextend their neck it can cause a serious injury to the spinal cord (Down Syndrome-Mayo Clinic). Respiratory illnesses such as Pneumonia and Influenza are the second most common cause of death for children between the ages of 0-19.
Symptoms, diagnosis, and treatment are all very important when talking about Down syndrome. Usually children with Down syndrome are diagnosed at or even before birth, some signs of Down syndrome at birth include quieter than most babies, less responsive, and weak muscles. There are also physical/characteristic symptoms which include small head, upward slanted eyes, a smaller than normal nose, and a small mouth making their tongue look huge (Down Syndrome- Encyclopedia of Children’s Health). Down syndrome is usually suspected right at birth when they show some of the symptoms. If they suspect the child has Down syndrome they will do further testing. Most often to test for Down syndrome they will do it with a blood sample.
Chemical stain is added to make the characteristics of the cells and the chromosomes stand out. Chemicals are added to prompt the cells to go through normal development, up to the point, where the chemicals are most visible, prior to cell division (Down Syndrome-Encyclopedia of Children’s Health). The cells will then be looked at under a microscope and pictured. The picture will be used to see the different shapes and sizes of the chromosomes and pair them. Most of the time, now would be the time doctors would see the extra chromosome 21 (Down Syndrome-Encyclopedia of Children’s Health). For treatment, there is no known cure. Usually doctors will assess the extent of the individuals effects by Down syndrome and get them the treatment they need. A large amount of Down syndrome individuals also usually need glasses and hearing aids due to hearing problems and vision deficiencies (Down Syndrome-Encyclopedia of Children’s Health).
Down syndrome is a disorder that affects the individual mentally and physically. They have many health problems and development issues. They may not get to choose the way they look or act but they add a sense of difference into society.
