Down Syndrome

The purpose of this article is to provide some helpful information regarding Down syndrome including a general overview of the disease, which includes down syndrome symptoms, causes and general outcomes for those individuals who have down syndrome.  As always, this article should only be considered as a potential first look at Down syndrome and as such should not be used in place of more comprehensive medical advice.  It is recommended that if you require information about Down syndrome that you not only consult this article, but as many other reliable health care information sources as possible.  Ultimately, the number one choice for health care information that should be consulted is a trained and licensed health care professional such as a family physician.

Down Syndrome Facts

Down syndrome is a disorder that is genetic in nature and results in what is known as mental retardation as well as a variety of other problems that vary based on the severity of the condition in the affected individual.  According to the Mayo Clinic, Down syndrome is the most common genetic cause of major disabilities in learning in children, affecting one in every seven hundred babies, as many as six thousand a year in the United States alone.  Named after John Langdon Down, who identified the disorder, it is an incurable but manageable disorder.

Down Syndrome Effects

Given that Down syndrome is characterised by developmental idiosyncrasies, it is not uncommon for Down syndrome children to have different features although there are some commonalities that are associated with this syndrome including a tendency for the tongue to protrude, a small head with flattened features, including upward slating eyes and ears that are of an unusual shape.  Other physical features that may be present in children who have Down syndrome include very flexible joints, but poor muscle tone, and unusual hands that may be broad with short fingers and a single crease in the palm of the hand.  As previously mentioned, the development nature of this disorder means that many of the physical affects mentioned will only make themselves present as the child grows.  In general children who have Down syndrome will grow slower and in general be shorter than their peers and over time exhibit some form of mental retardation.

Causes of down Syndrome

As already mentioned, Down syndrome is a genetic disease that involves some form of difficulty with the twenty-first of the twenty three chromosomes found in human cells.  There are three main types of problem that can occur with this twenty-first chromosome and these include: trisomy 21, mosaic Down syndrome and translocation Down syndrome.

In trisomy 21, far and away the most common cause is that there are three copies of the twenty-first chromosome, hence the name trisomy, tri- referring to three.  This genetic possibility is a result of an abnormal division of the cell in either the sperm or egg cell.  In mosaic Down syndrome, a more rare condition, there is not only an extra copy of the twenty-first chromosome, but also a number or ‘mosaic’ of abnormal cell divisions that occur at varying points after the egg has been fertilized.  In translocation Down syndrome some section of the twenty-first chromosome becomes translocated, that is attached, onto another chromosome and most often also have a second copy of the twenty-first chromosome.  It is thought that all the causes of Down syndrome are genetic and as such these genetic abnormalities complete the causes for this disorder.

Interestingly, although Down syndrome is a genetic disorder, it is not, in most cases an inherited disorder.  As previously mentioned, it is caused by abnormalities in cell division that result in problems with the twenty-first chromosome.  It should also be noted that in the rare translocation Down syndrome, that this is the only case where it is possible for Down syndrome to be passed along through generations – but it should be emphasized that this is a rather rare case.

The risks for contracting Down syndrome include pregnancy in older women, the presence of a child in the family who already has Down syndrome, or if parents, as previously mentioned, who may be carrying the genetic translocation form of Down syndrome.

Treatment for down Syndrome

Given that Down syndrome is a genetic disorder there is, as might be expected, very little that can be down to treat Down syndrome and as such there is no cure for this genetic disorder.  However, given that there are so many other potential complications due to Down syndrome it is vital that parents of a child or children who have Down syndrome remain in contact with physicians in order to appropriately manage the myriad possible developmental and social issues that will occur as a result of this genetic disorder.