Down Syndrome

Causes and symptoms of down syndrome

Down's syndrome – a disease?

Down syndrome is a genetic anomaly, congenital chromosomal disease that occurs due to the increased number of chromosomes.

This violation occurs quite often in 1 child out of 650 newborns. These deviations in some medical sources call "down's syndrome", but scientists think differently and the term syndrome implies a certain set of features and characteristics that were described by the English doctor John Down in 1866.

The causes of down syndrome

Via ' 93 in 1959 by the French scientist gérard Lejeune identified the true cause of the syndrome is the appearance of an extra chromosome. Human body cells contain 46 chromosomes, which contain signs, inherited the embryo from the parents. Chromosome set is the same number of paired chromosomes, male and female. Children born with down syndrome, the 21st pair has an extra chromosome, resulting in the presence of 47 chromosomes. So this is the main cause of down syndrome.

Many studies have confirmed the dependence of the frequency of down's syndrome from maternal age, the average age of women who gave birth to sick children, is 33 years of age and above. But there are cases when the 19-year-old young mothers give birth to children with this pathology.

The symptoms of down syndrome

The symptoms of down syndrome can be seen with the appearance on light newborn baby. Pronounced and clearly visible in the appearance of the characteristic physical differences: flat face, oblique eyes, a crease on the upper eyelid, irregular shape of skull, flat occiput, small ears, short upper and lower limbs, short fingers, curved little finger, there is a transverse fold of the palm.

Unusual, as they are called "Sunny kids" often have heart defects, they are characterized by stagnation and distortion of bone growth, mental retardation, decreased muscle tone, impaired coordination of movements. These guys later begin to walk, talk, but many of them have a musical ear, they are very cheerful, affectionate and helpful.

Forms of down syndrome

1. Trisomy means three chromosomes instead of two. Analysis of the research confirmed that extra chromosome group of autosomes leads to abnormal development of the embryo. The occurrence of down's syndrome is associated with "wear and tear" of the female body and diseases of the genital organs, with episodes in the life of woman when occurred the birth of dead children or the dead in earlyage.

2. Translocation down syndrome – a gene transfer or chromosome fragment to another position in the same or another chromosome. Involved in translocation of 13-15 and 21-22 I-I of autosomes, but the number of chromosomes in a set is equal to 46. The probability of having an affected child in this case depends on the father a carrier of the mutation, and not from maternal age.

Kids with translocation syndrome account for 5% of the total number of children with down syndrome.

3. Down syndrome with mosaicism

Mosaicism – a third type of chromosomal abnormalities is expressed by the presence in some cells of the normal number of 46 chromosomes and others have 47 chromosomes, i.e., trisomy of the 21st pair of chromosomes. The frequency of this phenomenon is 1% of the total number of children with down syndrome. Some children have pronounced the typical features of pathology or mild. They are stronger intellectually than children with translocation down syndrome. The occurrence of abnormal set of chromosomes associated with the violation of some of the phases of meiosis. In 35 years in a woman's body there is a change in hormonal balance and changes in ovulation.

Treatment of down syndrome

First of all, attention should be paid to the testing of parents before the birth of the child. Consultations of doctors-geneticists will determine the risk of having a sick child. One of the most common genetic disorders – down syndrome is considered incurable.

Most of the children suffering from this disease, changing parameters of blood and urine, increased activity of enzymes in blood serum, the increased content of amino acids in urine and blood. There are conduction disorders and serious disorders of heart rhythm.

Good results with down syndrome gives long-term treatment with the drug "thyroidin". A favorable effect can be obtained when using the drug "prevision". The application of the "niamid"and its counterpart"nuredal"(in the absence of the liver) has a positive effect on improving the development of the child with this diagnosis. These drugs have protivoleprosnami action.

Excellent performance on the use of"nerobil", "Dianabol" drugs regulating metabolism. Great support provides restorative therapy with preparations containing calcium, iron, juice aloe.

Science stepped far forward, and today the introduction of stem cells allows a positive influence on all systems of the bodyof the child and strengthening the immunity, heal damaged cell tissue and restore a normal diet bodies. This treatment significantly normalizes the growth of the bones, restores the function and development of the brain. Treatment should be timely, it must start immediately after birth.

Besides all this favorably affects the development of children with down syndrome teaching self-help skills, sessions with a speech therapist, dealing with children.

Note: any of these medications may be taken only after consulting a doctor!