Down Syndrome - love not hate

Down syndrome is a genetic disorder that occurs on chromosome 21 at q22 file SLC5A3 gene, which can be known by looking at a fairly typical clinical manifestations. Disorder which affects physical growth and mental retardation was first recognized in 1866 by Dr.John Longdon Down. Because the features that seemed strange as the relatively short stature, smaller head, flat nose that resembles a Mongoloid people so often also known as mongolisme. In 1970 experts from America and Europe to revise the name of the abnormalities that occur in children with reference to the first inventor of this syndrome with the term Down syndrome and up to now the disease is known by the same term.

symptoms or signs
Symptoms that arise due to down syndrome can vary

from completely invisible, visible at least until the appearance of typical signs.
Patients with typical signs of a very easily recognizable by the physical appearance of a prominent form of a relatively small head shape from the normal (microchephaly) by the anteroposterior head horizontally. On the face usually appears between the flat nose, mouth, tapering and protruding tongue (macroglossia). Often, the eyes become slanted at an angle to form the central part folds (epicanthal Folds). Clinical signs in other body parts such as short-hand including fingers segment and the distance between the first and second fingers on both hands and feet wide.

Meanwhile, the outer layers are usually visible wrinkles (dermatoglyphics). These chromosomal abnormalities can also cause interference or even damage to other organs systems.
Abnormalities in newborns can be either congenital heart disease. This disorder is usually fatal because the baby can die quickly. Can be found on the digestive system disorders such as obstruction of the esophagus (esophageal atresia) or duodenum (duodenal atresia).
If the child is experiencing blockages in these organs will usually be followed by vomiting. Prevention can be done by screening the chromosome via amniocentesis for pregnant women especially in the early months of pregnancy. Moreover pregnant women who never have children with down syndrome or those who were pregnant at the age of 40 years should carefully monitor the development of her fetus because they are subject to risks of childbirth with down syndrome is higher.
In the brains of Down syndrome patients, found increasing ratio of APP (amyloid precursor protein) as in patients with Alzheimer's.

Prevention
Prevention can be done by screening the chromosome via amniocentesis for pregnant women especially in the early months of pregnancy. Moreover pregnant women who never have children with down syndrome or those who were pregnant at the age of 40 years should carefully monitor the development of her fetus because they are subject to risks of childbirth with down syndrome is higher. Down syndrome can not be prevented, because the DS is a disorder caused by abnormal chromosome number. Number of kromosm 21 that should have only two to three. The cause is still not known with certainty, that it can be concluded so far is the older the higher the maternal age risk for the occurrence of DS.Diagnosis in the womb can be done, a definite diagnosis by chromosome analysis in a way making CVS (taking a bit of a fetus in the placenta) in pregnancy 10 -12 weeks) or amniocentesis (amniotic fluid intake) at 14-16 weeks of pregnancy.

Diagnostic checks
To detect any abnormality on the chromosome, there are some checks that can help diagnose this, among others:
§ Physical examination patients
§ Examination of chromosomes
§ Ultrasonography (USG)
§ echocardiogram (ECG)
§ Examination of blood (umbilical Precutaneus Blood Sampling)

Treatment
Until recently found the most effective treatment methods to overcome this disorder. In its development stage Down syndrome patients may also experience deterioration of the system vision, hearing or physical ability to remember tone of weak muscles. Thus the patient should receive adequate support and information as well as ease of use of appropriate facilities or facilities associated with the decline of both physical and mental development. Surgery is usually performed on patients to correct the defects of the heart, given that most patients die more quickly due to abnormalities in the heart. With the existence of acute leukemia causing the patient more susceptible to infection, so that these patients require monitoring and provision of adequate infection prevention therapy.

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