For over a century Down Syndrome was a condition misunderstood and hidden by society. Kids born with the disability were hidden and sent to asylums to spend the rest of their life concealed away from the world. Parent’s embarrassment caused by this condition forced them to abandon their own children and pretend they did not exist. Even medical scholars of the time referred to individuals with Down Syndrome as Mongolic’s, retarded, stupid and a number of insulting descriptive adjectives that make them seem like a mistake in society (B. Reyna-Matiut, 2018). Down Syndrome individuals were classified as a type of race, sharing similar physical characteristics of those descending from Mongolia, hence the term Mongolic.
It is important to mention the syndrome is named after Langdon Down a scientist from the United Kingdom, who first identified the syndrome as an ethnic classification Mongolian Idiocy. This classification included as Mongolian anyone who had Down Syndrome. He published his paper in 1862 and 1887; however, many of the descriptions and words used to identify the subject under his documents have been dropped by consent as he referred to the individuals as idiots or imbeciles.
It was not until 1959 that Jerme Lejeune a French pediatrician and geneticist professor identified Down syndrome as a chromosomal condition. Lejeune observed 47 chromosomes in the cells of individuals with Down syndrome instead of the normal 46 chromosomes. Lejeune’s discovery brought light to the study and understanding of Down Syndrome and today people living with the condition are able to live a normal fulfilling life as an essential and integrated part of society.
The World Health Organization describes down syndrome as a type of mental retardation caused by extra genetic material in chromosome 21. It also explains that if during the formation of gametes, genetic material fails to separate and it results in a full or partial extra copy of chromosome 21, the extra chromosome is called trisomy 21. This process is called Nondisjuntion (B. Reyna-Matiut, 2018). There are three types of down syndrome: trisomy 21, translocation, and mosaicism.
Trisomy 21 is the most common of all three types, the person has three copies of chromosome 21, instead of the normal two copies. This is caused by irregular cell division through the development of the sperm cell. Translocation is the least common, it occurs when a part of chromosome 21 becomes attached (translocated) onto another chromosome, before or at conception. They have the usual two copies of chromosome 21, but they also have extra genetic material from chromosome 21 attached to another chromosome. The rarest type of Down syndrome is mosaicism. A person with mosaicism has only some cells with an extra copy of chromosome 21. The abnormal cell division after fertilization is what causes the mosaic of normal and abnormal cells. (B. Reyna-Matiut, 2018)
The exact cause of Down syndrome has not been identified, but the mother’s age is a great indicator that the condition may present as it correlates the fact that the older the mother the greater the possibilities of having a child with Down Syndrome. However, recent studies have shown that in 5% of the cases the extra chromosome has been traced back to the father. Not enough information exist that could confirm whether or not socio-economical, environmental conditions nor the behavior of the parents at the time of conception could be a cause of Down Syndrome, which means that anyone regardless of their socio-economical condition could have a child with Down Syndrome.
The Centers of Disease Control and Prevention, reported that approximately one in every seven hundred babies in the United States is born with Down Syndrome affecting approximately two hundred and fifty thousand families in the United States alone, while the World Health Organization estimates one in one thousand, one hundred births are affected worldwide (B. Reyna-Matiut, 2018). It is estimated that the world population of individuals with Down Syndrome is about six million people.
Although detection of the condition is possible early during the pregnancy thanks to a non-invasive medical procedure called amniocentesis, more parents are choosing to continue the pregnancy and give an opportunity for life to the baby. Down syndrome babies are born the same size as healthy babies but they grow at a much slower pace and have very distinctive physical characteristics as well as intellectual deficiencies and higher risk for medical conditions.
According with the World Health Organization Down Syndrome also increases an individual’s medical conditions as follows: Increases the chances of Alzheimer’s disease, seizures, sleep apnea; forty to forty five percent have a congenital heart defect that causes problems because of their heart’s shapes or functioning; it increases the chances of childhood leukemia, thyroid disorder in adolescence and respiratory problems. Eighty percent of children with down syndrome have hearing problems due to fluid buildup. (B. Reyna-Matiut, 2018)
Down also limits the individual’s intellect slowing down their ability to think, be rationale, comprehend and be social; it also limits their physical development and ability to crawl, walk and talk. In adulthood they may also suffer from dementia. However, early treatment may help the individuals affected reach important milestones a lot sooner and have a full meaningful life. (B. Reyna-Matiut, 2018)
The National Down Syndrome Society indicates down syndrome is the most common chromosomal condition as well as the leading cause of intellectual and developmental delay in the U.S. and in the world. Understanding what causes Down Syndrome, who is affected by the condition, what are the medical, physical and intellectual limitations an individual with Down syndrome must endure during their lives, funding the necessary research to find a cure to prevent the extra chromosome to duplicate, and providing the necessary treatment for those living with the condition are just some of the goals of local and international Non-for-Profit organizations who look to find the answers to Down Syndrome.
Not all individuals with Down Syndrome suffer from the same levels of physical, metal or intellectual disability, and they are able to live meaningful lives if giving the opportunity. Each an everyone should be treated on an individual basis while providing them with the moral support they need to pursuit their dreams as anyone else.
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