May
21
23:01
Genetic diseases

Down Syndrome

Down Syndrome

At all times, children were born with Down syndrome, but the syndrome was first described by English physician John Down in 1886.And already the mystery of this syndrome - an extra forty-seventh chromosome opened in 1959, French geneticist Jerome Lejeune.The extra chromosome is the result of violations of the maturation of germ cells.This pathology is not uncommon. On average one case per 700 newborns, but thanks to the prenatal diagnosis of birth of children with Down's syndrome has decreased to one case per 1100 children

Causes

The reasons are not fully established, but doctors brought groups of women are at risk:
- Late pregnancy (maternal age on a direct effect on the birth of a child with Down syndrome, as 80% of children with this syndrome are born to women 35 - years of age)
- Multiple births
- Available in old people with Down syndrome
- Random eventsduring the formation of gametes and pregnancy

Diagnostics

Medicine to diagnose the presence of Down syndrome

in early pregnancy.Diagnosis involves performing tests (amniocentesis, chorionic villus sampling, cordocentesis), which will help identify whether the future is subject to the fetus this syndrome.For this study the cells under a microscope and counted pregnancy set of chromosomes.The essence lies in the study of chorionic cells - a future placenta or the epithelial cells of the fetus floating in amniotic fluid.If the fetus would be forty-seven chromosomes, and three of them 21st, then the unborn child is Down syndrome.
Amniocentesis and chorionic villus sampling surveys are considered risky.In the womb of a woman administered medical instruments, which can damage the wall of the uterus, the fetus, cause miscarriage

Symptoms

They are so unique that confused with any other genetic disease is impossible.Children with Down syndrome are not like their parents, but they are similar to each other.Most symptoms are noticeable at birth and growing up with them appear more clearly.
- One of the symptoms - is delayed mental and physical development (people with Down syndrome are at the level of the seven-year child)
- Violation of bone growth (low growth of people), hypotonia, shortening of all fingers
- Characterized by a slanting eyes, protrudingLanguage, flat face and neck
- Meets heart disease
- Changes dermatoglifiki ("monkey" or chetyrёhpaltsevaya crease on the palm)
- small head, short neck and deformed ears
- Failure to reproductive function

Treatment

is known genetic diseases can not be treated, but to treat comorbidities possible, because a child with Down syndrome are born with a whole bunch of defects.After the birth of the child carried out a medical examination to confirm the diagnosis and determine the associated problems.Pediatrician tactfully on the second day due to report suspected diagnosis of both parents.During this period, new parents in particular need of psychological support and assistance.And only two - three weeks, becoming known analysis of the test to detect karyotype - a baby's chromosomes.If the diagnosis is confirmed, since the first days of helps the child to adapt to a new life, and doctors will monitor the child's development and the emergence of diseases characteristic of this syndrome.It should adhere to the recommendations of the doctor and undergo tests offered.Upon detection of congenital performed surgery

Prospects

development of a child with Down's syndrome depends on innate factors and on how to deal with the child.Children with this pathology trainees, but they require a great deal of attention and patience in the learning process.
In children with this pathology is very weakened immunity.They are susceptible to various infections, pneumonia, often suffer from cardiac disease, Alzheimer .Life expectancy with Down syndrome has increased to fifty years or more.Many people marry.Men in most cases fruitless, but women can have children.

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