WHAT IS IT? Down Syndrome is a genetic condition in which a person has 47 chromosomes instead of the usual 46. The extrachromosome is that of chromosome 21, where 3 occur instead of the normal two. This happening is most commonly referred to as Trisomy 21.
MOSAICISM AND TRANSLOCATION There are two other forms of down syndrome, outside of Trisomy 21, mosaicism and translocation. Trisomy 21 is 95% ofthe cases of down syndrom. Mosaicism is when nondisjunction of chromosome 21 takes place. However, it only takes place in some of the cells, not all, after fertilization. Mosaicism accounts for 1% of down syndrome patients. Translocation is when part of chromosome 21 breaks off and attaches to another chromosome. Most of the time, the attached chromosome is 14. Although there are only 46 chromosomes in this case, theextra 21 section causes the condition. Translocation is the cause of the other 4% of down syndrome cases.
THERE’S AN EXTRA CHROMOSOME. SO, WHAT? This extra chromosome can be very detrimental. The human body is “programmed” to be made out of 46 chromosomes.Each codes for something different and knows exactly where itbelongs. The extra 21 chromosome causes issues with brain and thus body development. This causes the affected person to work a little different than those whom have the normal 46.
SYMPTOMS As for many other conditions you can have a slight to severe case of down syndrome. There are many symptoms that cancome along with down syndrome; both physical and mental. As always, they differ from person to person. Not every person who has this extra chromosome shows all of the symptoms.
PHYSICAL In children, there is a unique look that often shows that they have down syndrome, this generally consists of smaller shaped heads with a possible ﬂat region in the back and also eyes thatare rounded at the inner edge rather than pointed. When born,many have less of a muscle tone and may also have excess skin at the nape of the neck. It is also common to have small ears, small mouths and a ﬂattened nose. Furthermore, growth isgenerally slowed throughout their lives and most do not reach full adult height.
MENTAL Generally, internal detriments consist of slowed social andmental development. These can range anywhere from impulsive behavior to slowed learning. Many also have a short attention span. Once aware of the fact that people with this condition have limitations, they can also show anger and frustration.
HOW DO YOU KNOW?Often times, a doctor can tell the parents if the child has the condition at birth, simply by the aforementioned physical appearance. However, there are tests that are also used to determine that the condition exists. Blood tests are what generally conﬁrm the extra chromosome. After birth, anechocardiogram is done to check for heart defects which are common in down syndrome babies.
AFTER BIRTHThroughout their life time, people with down syndrome have to have to have many tests done to make sure their body is functioning in a healthy manner. These tests consist of eye, hearing and dental exams, just like a person without thecondition. Also, they have to undergo xray and thyroid exams to make sure development (xray) and everything is working properly.
WHAT ELSE? Down syndrome can cause other health issues, as well. Cataracts are very common, most people having to wearglasses. Dementia can develop. Gastrointestinal issues may arise (consisting of vomiting). There is often joint dislocation issues. Sleep apnea and teeth occurring at later times are also two issues. All of these can cause problems with functions that people without the condition would consider normal.
TREATMENT There really is no speciﬁc “treatment” for this condition. Behavioral therapy may be required, especially for the possible anger issues. Also, surgery is necessary if there are heart orintestinal issues. If these are not taken care of with surgery, more serious and possibly deadly issues could arise. Obesity is common so daily or regular exercise is recommended, as is for any other person. Over all, the largest treatment may be special education where the child is taught in a slower and more appropriate pace.
FACTS -Most females with down syndrome are able to get pregnant but are at a higher risk for sexual abuse.-People with the condition can live just as long as those without as long as they are kept healthy. -People with down syndrome are more susceptible to certain forms of leukemia.-As women get older, they are at a higher risk of having children with down syndrome. -Amniocentisis is one way to test for down syndrome in an unborn baby.