Down syndrome causes and symptoms
Down syndrome - a disease?
Down syndrome is a genetic abnormality, a congenital chromosomal disease that occurs due to an increase in the number of chromosomes.
This disorder occurs quite often - in 1 child out of 650 newborns. These deviations in some medical sources are called "Down's disease", but scientists think differently and by the term Down syndrome mean a certain set of features and symptoms that were described by the English doctor John Down back in 1866.
Down syndrome causes
93 years later, in 1959, the French scientist Gerard Lejeune identified the true cause of the syndrome - the appearance of an extra chromosome. The cells of the human body contain 46 chromosomes, which contain traits that are inherited by the fetus from the parents. A chromosome set is the same number of paired chromosomes, male and female. In children born with Down syndrome, the 21st pair has an extra chromosome, resulting in the presence of 47 chromosomes. This is the main reason for the development of Down syndrome.
Numerous studies confirm the dependence of the frequency of Down syndrome on the age of the mother; the average age of women who gave birth to sick children is 33 years and above. But there are cases when 19 year old young mothers have children with this pathology.
Down syndrome symptoms
The symptoms of Down syndrome can be seen already at the birth of a newborn baby. The characteristic physical differences are pronounced and clearly visible in appearance: a flat face, an oblique section of the eyes, a fold in the upper eyelid, an irregular shape of the skull, a flat nape, small auricles, short lower and upper limbs, short fingers, a curved little finger, there is a transverse fold on palms.
Unusual, as they are called "sunny children" often have heart defects, they are characterized by inhibition and distortion of bone growth, mental retardation, decreased muscle tone, impaired coordination of movements. Such guys later begin to walk, talk, but many of them have an ear for music, they are very cheerful, affectionate and helpful.
Down syndrome forms
1. Trisomy means having three chromosomes instead of two. Analyzes of studies have confirmed that an extra chromosome of a group of autosomes leads to an abnormal development of the embryo. The occurrence of Down's disease is associated with the "wear and tear" of the female body and diseases of the genital organs, with episodes in a woman's life when there was a birth of dead children or those who died at an early age.
2. Translocation Down syndrome - transfer of a gene or a fragment of a chromosome to a different position in the same or a different chromosome. The 13-15th and 21-22nd autosomes are involved in the translocation, but the number of chromosomes in the set remains equal to 46. The probability of having a sick child in this case depends on the father - the carrier of the mutation, and not on the mother's age.
Babies with translocation syndrome make up 5% of the total number of children with Down's disease.
3. Down syndrome with mosaicism
Mosaicism - the third type of chromosomal anomalies is expressed by the presence in some cells of the normal number of chromosomes 46, and in others - 47 chromosomes, that is, trisomy on 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 typical pathological features or are mild. They are intellectually stronger than children with translocation Down syndrome. The occurrence of an abnormal set of chromosomes is associated with a violation of some phases of meiosis. At the age of 35, a woman's body changes hormonal balance and changes in the formation of eggs.
Down syndrome treatment
First of all, attention should be paid to examining the parents before the birth of the child. Consultations with geneticists will determine the risk of having a sick child. One of the most common genetic disorders, Down syndrome is considered incurable.
In most children suffering from this pathology, the blood and urine parameters change, the activity of enzymes in the blood serum increases, and the content of amino acids in the urine and blood increases. Conduction disturbances and serious cardiac arrhythmias are observed.
Long-term treatment with thyroidin gives good results in Down's syndrome. A beneficial effect can be obtained when using the drug "prefizon". The use of "niamide" and its analogue "nuredal" (in the absence of liver dysfunctions) has a positive effect on improving the development of a child with such a diagnosis. These medications have antidepressant effects.
Excellent performance from the use of "Nerobil", "Dianabol" - drugs regulating metabolism. General strengthening therapy with preparations containing calcium, iron, aloe juice provides great support.
Science has made great strides forward and today the introduction of stem cells can positively influence all systems of the child's body and strengthen the immune system, heal damaged tissue cells and restore normal organ nutrition. This treatment significantly normalizes bone growth, restores brain function and development. Treatment must be timely and must be started immediately after the baby is born.
In addition to all this, it has a beneficial effect on the development of children with Down syndrome, instilling self-care skills, classes with a speech therapist, and communication with children.
Note: any of the listed medicines can be taken only after consulting a doctor!
Article author: Mochalov Pavel Alexandrovich | d. m. n. therapist
Education: Moscow Medical Institute. IM Sechenov, specialty - "General Medicine" in 1991, in 1993 "Occupational Diseases", in 1996 "Therapy".
