Down Syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. (Clinic, 2018) The extra genetic material causes the developmental changes and physical features of Down syndrome. It varies in severity among individuals, causing lifelong intellectual disability and developmental delays. (Clinic, 2018)
Its history goes back to 1866, a man by the name of John Langdon Down, an English physician, published an accurate description of a person with Down Syndrome. This earned him the recognition as the “father” of the syndrome. (Society, 2018) The actual term Down Syndrome didn’t become the accepted term until the early 1970s. Because people were unfamiliar and most likely uncomfortable with this diagnosis. Many people with Down Syndrome were institutionalized and hidden away from the rest of society. Unfortunately, if families decided to take home their children with Down Syndrome they had no help with providing extra help and services. There was no support for families at all that had children with special needs.
Down Syndrome is the most common genetic chromosomal disorder and cause of learning disabilities in children. (Clinic, 2018) There are three different types of this genetic disorder. Trisomy 21 is the most common, affecting 95% of the individuals born with Down Syndrome. A person affected by Trisomy 21 has three copies of the chromosome 21, instead of the usual two copies in a cell. The abnormal cell division happens during the development of the sperm cell or egg cell. Mosaic Down Syndrome is the rarest form of the genetic disorder. An individual with this form only has some cells with an extra copy of chromosome 21. It is caused by abnormal cell division after fertilization of the egg. Translocation Down Syndrome occurs when a portion of chromosome 21 becomes attached to another chromosome, before or at conception. (Clinic, 2018) These children will have the usual two copies of chromosome 21, but they also have additional genetic material from chromosome 21 attached to another chromosome. The answer to the question, of whether Down Syndrome is inherited or genetically passed, to this day there are no links. Down Syndrome happens by mistake during cell division during the early development of a fetus. So, it is no ones’ fault or something a person did wrong at all. It is very random.
Signs and Symptoms
Every person with Down Syndrome is unique and so is their situation. The effects of Down Syndrome can range from mild to severe. There may be some that have major health problems and others that have severe health problems. Although, there are some very distinct characteristics that hold true for most people affected by Down Syndrome. These include: flattened face, small head, short neck, protruding tongue, upward slanting eyelids, unusually shaped or small ears, poor muscle tone, broad, short hands with a single crease in the palm, relatively short fingers and small hands and feet, excessive flexibility, tiny white spots on the iris of the eye and short stature. (Clinic, 2018) Children will usually have cognitive impairment and their language is delayed due to their enlarged tongue.
Down Syndrome is not an inherited disability some parents tend to be at higher risk of having a child born with Down Syndrome. In a large number of cases, an older woman has her chances of giving birth to a child with Down Syndrome increase. Naturally, older eggs are at risk for more mistakes during chromosome division. But this is becoming a thing of the past, as well as, younger women are having more babies these days. Both men and women can pass the genetic translocation for Down Syndrome onto their children which puts them at a higher risk. Also, those individuals that have a child with Down Syndrome are at higher risk of having another child with Down Syndrome.
There are several ways that Down Syndrome can be diagnosed. While a mother is still carrying their child, her doctor may do a blood test that looks for abnormal levels of plasma protein. A doctor may ask to perform an amniocentesis if a mother is at higher risk of having a baby with Down Syndrome or if preliminary tests come back abnormal. A preimplantation genetic diagnosis is an option for couples undergoing in vitro fertilization who are at risk of passing along certain genetic conditions. (Clinic, 2018) A baby that is not pre-diagnosed with Down Syndrome before birth will be diagnosed primarily by its appearance. The child’s doctor will most likely perform a blood test on the child to check if there is an extra chromosome 21 in all or some of their cells.
A diagnosis of Down Syndrome has no cure and will be treated on a case by case basis. Early intervention is the best way to help the child reach their maximum potential. Depending on the child’s needs you may have a group of specialists that help them with those needs. This group may include a primary care pediatrician, pediatric cardiologist, pediatric gastroenterologist, pediatric endocrinologist, developmental pediatrician, pediatric neurologist, a pediatric ear, nose and throat specialist, audiologist, speech pathologist, pediatric eye doctor, physical therapist, and occupational therapist. The parent will need to make very important decisions on the treatment and education the child will receive. Ensuring that the child is getting the right care and a good group of doctors and specialists will help them achieve their full potential. It is also important to have some sort of support for your family within your community. Having a child with special needs is tough and speaking about it with others is a good way to cope and to find out if this is something other parents deal with as well.
In conclusion, Down Syndrome is a developmental disability that has a wide range of different cognitive and developmental delays. Every case is different, and every child is different. I am a mother of a child with Down Syndrome, so I know first hand how difficult it is to manage a schedule of doctors, specialists and educational meetings to ensure she has every opportunity to reach her maximum potential. Finding the right group of doctors and specialists to help is important as well. This is important for all children with special needs. I believe that early intervention is very important, not just for children with Down Syndrome, but for all kids with special needs or developmental delays. It is also a blessing to have a child with special needs, it has taught me many things and how to improve on others. My daughter impresses me every day by overcoming daily challenges and exceeding the expectations that I have for her.
Clinic, M. (2018, March 8). Down Syndrome. Retrieved from Mayo Clinic: https://www.mayoclinic.org/diseases-conditions/down-syndrome/symptoms-causes/syc-20355977
Society, N. D. (2018). Down Syndrome. Retrieved from National Down Syndrome Society : https://www.ndss.org/about-down-syndrome/down-syndrome-facts/
Syndrome, N. A. (2016). National Association for Down Syndrome. Retrieved from History of NADS: www.nads.org