About Down Syndrome

About the Down syndrome

Down syndrome is a genetic disease caused by an abnormal level of the 21st human chromosome. Genetic disease called Down syndrome was named after the British doctor John Langdon Down, who described the first time in 1866. Identifying the causes that produce a syndrome, but was only made in 1959 by Jérôme Lejeune.

How is Down syndrome detected

Down syndrome is identified by a combination of major and minor differences in body structure.
Often Down syndrome is associated with poor physical development and mental retardation, people with Down syndrome have features characteristic feature of the disease has been nimita and mongolism.
Tests performed by the expectant mothers in the time period of pregnancy may lead to detection of this disease chromosomal genetic origin since intrauterine period.

People affected by Down syndrome usually have physical and mental abilities lower, often because of retardation or severe physical environment. People who suffer from this disease have a slow mind in May and / or are a joint out of naivete. Only a small number suffer from a mental retardation very seriously. Incidence of occurrence of this genetic disease is 1 to 800-1.000 of births.

Children who suffer from Down syndrome are prone bolor heart, stomach diseases and diseases of the ears. And many other shortcomings. However, although this disease is not curable, quick medical intervention, and analyzes the required tests and medical treatment in cases where it is appropriate, disease, care and love of parents can significantly improve the lives of children suffering from this disease.

What is Down syndrome
Down syndrome is a congenital disease in which genetic material cause abnormal development of children and is the most frequent cause of mental retardation, with an incidence of 1 in 800 new-born. Affection Symptoms vary from one child to another. If some of them need special medical attention, others come to lead a life almost independent.
Although it can not be prevented, Down syndrome can be detected before birth of the child.
Parents whose children suffer from Down syndrome should diminish with infinite care and love efetele of genetic errors.

Down syndrome causes the appearance
Upon conception, the baby inherits genetic information from two parents in the form of 46 chromosomes, 23 from his mother and 23 from dad.
In case of occurrence Down syndrome, the child inherits an extra chromosome, that is has 47 chromosomes instead of 46.
Although this freak genetic causes are not known, as there was no way of providing an error chromosomal cause, researchers have found that the risk of occurrence of the syndrome increases with the aging of women.

Mongoloid features
Your doctor may diagnosis of Down syndrome only by a simple physical examination of new-born, which has certain characteristic features evident: round face, occiputul flatten, eyes oriented Mongoloid, a single ditch in the palms, small mouth, small ears, short neck, excess skin in neck area, hands and feet small, with short fingers. Also, muscle tone is low, and the joints are weak, the child having an issue particularly lax.
If the birth of a child increased the muscle tone, children with Down syndrome do not have it are soft, semanand with a doll in the Carpathians.
Although their status may improve in time, children with Down syndrome about more difficult, compared with the normal habits certain age, like the standing, walking on all fours or walking.
If children from birth to Down syndrome have a medium size, these children grow up with a slower rate in May and remain short.
Obesity may sometimes occur and can manifest itself frequently recurring infections or may develop autoimmune diseases, from diabetes to leukemia.
In small, low muscle tone may contribute to the emergence of problems and wasted food or digestive diseases.
In children who go up or the somewhat higher delay is observed in terms of speaking and physical activities such as eating, imbracatul or skills to go to the bathroom.

Down syndrome: prenatal screening in
Attention future mummy! Down syndrome may be during prenatal diagnosis relatively easy. The most effective method of detecting Down sindroului is biochemical test method, called triple test, that includes the quantification of three parameters.
There quadruple test, which includes inhibina with a higher sensitivity.
Currently, both tests are available in Romania, both in maternity clinics and in private, at a reasonable price.
Optimum age for pregnancy making a triple test is between 14 and 16 weeks. If after making this biochemical test is found an increased risk for Down syndrome, besides a detailed fetal ultrasound examination is recommended to perform amniocentezei and cariotipului fetal (fetus chromosome study using culture of fetal cells) and FISH test (study the fetal chromosomes fluorescence method).
These tests are designed to confirm the suspicion and diagnosis of Down syndrome.
Because prenatal diagnosis is possible, the decision regarding the evolution of a pregnancy affected with fat belongs entirely torque.

(healthbama.com)