Down

Down's disease overview

What is down?

Down disease (Down syndrome) is the most common genetic chromosomal disorder, causing loss of learning ability in children. The name of the syndrome was named after John Langdon Down, a physician described this syndrome in 1866.

infant down disease

Currently, the percentage of infants with down worldwide is about 1: 700, about 8 million children born with this syndrome.

Is Down disease inherited?

Down syndrome is not a genetic disease but a genetic disorder occurred during the embryo fetal decrease to create an additional copy of the chromosome No. 21

There are only about 5% of cases of genetics.

What is the mutations of downstream?

Down disease is a syndrome due to a mutation of the number of chromosomes, which is specifically excess a chromosome 21.

The normal human body has 46 chromosomes divided into 23 pairs of which half inherited from the father and half received from the mother. In children with Down disease, this number of chromosomes is 47 due to excess of a chromosome 21, this difference breaks the normal structure and affects the physical and intellectual development of the child at birth. out.

Causes of Down's disease

There have been many studies to learn about the cause of Down disease but the results are still hypotheses, not yet proven.

Children with Down disease due to a mutant disorder in the number of chromosomes in the process of decreasing mitosis, gametes a surplus of a chromosome No. 21 combined with normal gametes to create a zygote. There are 3 chromosomes No. 21. However, because the number 21 chromosome is very small, so the imbalance of gene due to excess of this chromosome is less serious than other chromosomes, so the patient can still live. .

Symptoms of Down's disease

Children with Down disease will have typical physical signs that are easy to see:

  • Slanted eyes
  • Flat, stupid face
  • Small and flat nose
  • Abnormal ear shape
  • Short head, baby
  • Wide, flat nape
  • Short neck, round shoulders
  • mouth out, always, thick tongue out
  • Foot, short -arms, big and big
  • Non -developed genitals, infertility

    • muscle and weak ligaments

    Intellectual disabilities

    In addition, children with syndrome often have related health problems such as:

  • Cardiovascular disease: See in about 50% of children with Down disease
  • The intestinal problem
  • The problem of hearing and vision
  • Increased risk of leukemia and thyroid disease

    • Sensitivity to causes of infections such as colds, ear infections and bronchitis

    People at risk for Down's disease

    The factors that increase the risk of childbirth:

    1. Mother's age during pregnancy:

    The higher the mother's age, the greater the risk of giving birth to down.

  • Mothers 25 years old: The rate of fetal Down is quite low, only 1: 1200
  • Pregnant women over 35 years old: This ratio is 1: 350
  • Pregnant women 40 years old: The rate of fetal infection is 1: 100
  • 45 -year -old pregnant mother: high ratio 1:30
  • 49 -year -old pregnant mother: The rate of fetus with this syndrome is very high 1:10
    • 2. Each pregnancy or childbirth with Down syndrome: The risk of childbirth or pregnancy is sick in the following times is 1: 100. 3. History of disease

    parent with a history of abnormalities in chromosomes is at high risk of childbirth.

    Prevention of Down's disease

  • Encourage not to have children too late (Mother over 35 years old)
  • Screening for Down Disease for the fetus while pregnant from the 12th week to detect children with Down disease early

    • Diagnostic measures for Down's disease

    When pregnant is 11 - 14 weeks of age:
  • Blood test: double test
  • Nuchal translucency ultrasound: This method helps to detect the fetus with Down syndrome up to over 80%.
    • When pregnant is 15-22 weeks:
  • Blood test: Triple test, this test can detect disease with an accuracy of up to 80%. <
  • After reviewing the test results, if the fetus is at high risk of disease (the ratio is 1/250), the doctor will specify the technique of biopsy of each other and Amniocentesis, these tests give 99%accurate results. However, these intensive tests are often expensive, invasive body and can be harmful to the fetus.

    • Down's disease treatments

    Down disease has no treatment, children with disease must live with lifelong disease and must depend heavily on others. However, thanks to the remarkable progress of medicine, most of these issues have been solved today. Early and comprehensive care for people with Down, creating better conditions and living environment to help patients have a significant increase in life, some people with this disease have become normal or almost normal people, back to. become artists, painters, teachers, graduates, social activists.

    Principle of treatment:

  • Treatment of disease in many different organs at the same time
  • Support development, especially cognitive development, memory, learning ability

  • Let children attend specialized schools
  • Educate and teach children about language to be able to integrate into the community to help stimulate the development potential of children.
  • Building a network of families with children with down to support each other

    • Currently, the method of using stem cells to treat people with down is being studied, those who have been treated for improvement significantly in terms of mental, movement, language, ... However, the results of treatment still need to monitor for a long time before this method is widely applied.

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