Down Syndrome: Facts, Features, Causes, Treatment
What is Down Syndrome?
Down Syndrome is a collection of physical and mental abnormalities that occur as a result of a gene defect before the birth of a child. Children with Down Syndrome tend to have distinct facial features like a flat face and an abnormally short neck. Children with Down Syndrome also tend to have intellectual disability to a certain degree as well which may vary depending on the severity of the condition but usually it is mild.
Down Syndrome is a condition which does not have a permanent cure. Down syndrome children suffering with good support system and care may go on to live a healthy and almost a normal life. Older females who get pregnant are more likely to give birth to a child with Down Syndrome.
Individuals with Down Syndrome are at higher risk for developing conditions like Alzheimer disease later on in their lives. Under normal circumstances a child has two copies of every chromosome but sometimes due to a gene defect there are three copies of a chromosome which results in Down Syndrome.
Facts About Down Syndrome
Below mentioned are some facts about Down Syndrome. These facts are:
- Women above age 35 who get pregnant are more likely to deliver a child with Down Syndrome.
- Usually there are two copies of every chromosome in a child but in Down Syndrome there are three copies of a chromosome called chromosome 21 which may be a partial copy or a complete copy resulting in Down Syndrome.
- Some of the main characteristics of Down Syndrome are presence of decreased muscle tone, an abnormally short stature, flat nose, and a protruding tongue.
- Individuals with Down Syndrome are at a greater risk of developing medical conditions like Alzheimer Disease or epilepsy later on in their lives.
- There are screening tests available which can detect whether a fetus does have Down Syndrome or not before birth.
What Causes Down Syndrome?
As stated, Down Syndrome is caused by a gene defect in which there is an extra chromosome which may be a partial copy or a complete copy in chromosome 21 which results in Down Syndrome. Normally there are 46 chromosomes in each cell of which 23 are inherited from the father and 23 from the mother. When the cells due to gene defect have an extra copy of chromosome in the cells, this results in development of Down Syndrome.
The most common form of Down Syndrome is called as Trisomy 21 in which there are 47 chromosomes in the cells as opposed to 46 chromosomes which is the norm. This condition called Trisomy 21 is caused due to a defect in cell division in which there is an extra copy of chromosome 21 in the cells of the sperm or egg resulting in the fetus having an extra chromosome resulting in Down Syndrome.
What are the Characteristics and Features of Down Syndrome?
As stated above, individuals with Down Syndrome will have distinct facial features, abnormal health issues, and developmental and cognitive problems. Some of the physical characteristics or features of an individual with Down Syndrome are:
- Upward slanting eyes with white spots in the iris
- Decreased muscle tone
- Abnormally small stature
- Abnormally short neck
- Flat nasal bridge
- Protruding tongue
- Extended space between large and second toe
Apart from the distinct facial features that are associated with Down Syndrome, individuals with this condition also have cognitive defects amounting to mild mental retardation, although this defect may vary from person to person. There will also be speech delays requiring speech therapy to assist them to speak as normally as they can so that they can put their thoughts across despite their disability.
Individuals with Down Syndrome also have delayed gross motor skills and have delays in reaching their developmental milestones. Although there may be significant developmental delays and other cognitive disabilities in children with Down Syndrome but with appropriate support and care majority of them go on to lead a normal healthy lives despite suffering from Down Syndrome.
Additionally, children with Down Syndrome also may have several illnesses affecting the bodily functions but in retrospect children with this condition are at a lesser risk for developing thickening of the arteries or various forms of cancers.
How is Down Syndrome Treated?
As stated above, Down Syndrome is a condition which cannot be cured, although screenings are available which can testify whether the fetus has this condition. Once it is known that a child has Down Syndrome then early treatment can go a long way to help children with Down Syndrome lead as normal a life as possible. For this, speech therapy is the first thing that is considered so that the child once is old enough to speak can be taught to put his or her thoughts across to others. Additionally, occupational therapy and exercises are also quite helpful in maintaining a good muscle tone and help improve the gross motor skills that the child will be lacking because of Down Syndrome.
Special education is also required for children suffering from Down Syndrome. Other medical illnesses that a child with Down Syndrome may suffer are cataracts, thyroid disorders or seizures can be treated with medications and other treatments. As of recent, a medication known as Piracetam is believed to enhance the ability of the brain to learn and understand better but the efficacy and safety of this medication has not been tested as of yet and hence has not been trialed in the United States for Down Syndrome.
Apart from this, parents with a child with Down Syndrome may take help of support groups for Down Syndrome which may help them to better cope with the situation and allow their child to grow up as normally as possible despite suffering from Down Syndrome. Another thing what a parent can do is to talk with other people who have children with Down Syndrome and speak to them as to how they are coping up and what resources they are using so that the child can become as normal as possible and lead a productive life despite suffering from Down Syndrome.