Complications of Down's disease and its diagnosis

Written By The HealthMeth Team - Updated On Saturday, March 13, 2021 6:00 PM

Down's syndrome

Down syndrome is considered a genetic disease that is attributed to the presence of a disorder in cell division , which causes an increase in the copy of chromosome number 21, and this makes the total number of chromosomes in a person with this syndrome 47 chromosomes instead of 46, and the infection affects This condition applies to various aspects of a person's life, including physical features, mental abilities, and the patient's general health status. [1] [2]

Down syndrome complications

Having Down syndrome may lead to many complications, which appear more clearly as the person ages, and the following is a statement for each of them: [1] [3]

  • Congenital heart defects: The percentage of children with Down syndrome who are born with congenital heart defects is about 50%, and these defects may be life-threatening and in some cases it may be necessary to undergo surgery in the early stages of life, and the septal defect is considered It is also known as the most common perforation of the heart , and in this case a hole is observed in one of the walls separating the four heart chambers, and therefore when a child is diagnosed with Down syndrome, the necessary heart examinations are performed to determine the nature of the problems he suffers to take appropriate action as soon as possible.
  • Digestive problems: Many people with Down syndrome suffer from various digestive and intestinal problems of their variety and severity, and these problems include disturbances in the intestine, bronchi, esophagus, and anus, and thus the patient may suffer from constipation , diarrhea, indigestion, and intestinal blockage Minute, wheat allergy, anal atresia, reflux , and Hirschsprung's disease.
  • Hearing problems: People with Down syndrome suffer from hearing problems, whether permanent or temporary, and this is due to the accumulation of fluid in the middle ear, and as a result of these problems, the patient must see an otolaryngologist.
  • Vision problems: People with Down syndrome suffer from vision problems , which often require them to use eyeglasses, and there are many vision-related problems that afflict patients with Down syndrome, including the following:
    • Squint .
    • Myopia , where distant objects appear blurry and the patient cannot see them.
    • Farsightedness, as close objects appear blurry, so the patient cannot see them.
    • An eye infection, such as conjunctivitis, blepharitis, or iritis.
    • Glaucoma , as the pressure inside the eye increases in this case.
    • Keratoconus , in which case the corneal membrane is thin and swollen.
    • Nystagmus or forced pupillary tachycardia (Nystagmus), in which the movement of the eye is from one end to the other in a manner that is not isotropic.
    • Cataracts, in which case the lens of the eye that lies behind the pupil becomes clouded, which makes it lose its transparency and causes impairment of vision.
  • Thyroid problems: About one in 10 people with Down syndrome suffers from thyroid problems , and this affects the body's ability to use energy and metabolism as well, and people with Down syndrome often suffer from hypothyroidism , and a range of signs and symptoms appear. Which indicates the incidence of this condition, including weight gain, lack of energy, and slow reactions of the body and mind, as for the diagnosis, it is made after conducting blood tests and this condition can be controlled by taking the medicines prescribed by the doctor, according to his instructions.
  • Immune disorders: People with Down syndrome are prone to frequent disorders and infections due to an imbalance in their immune system, and this makes them vulnerable to other diseases, including cancers , and this condition can be controlled by giving the child routine childhood vaccinations, In addition to other vaccines that reduce the risk of infection, such as the annual influenza vaccine , and in cases of bacterial infection, it is required to take antibiotics to treat the condition.
  • Dementia: Patients with Down syndrome are more likely to develop dementia at an earlier age compared to other people. Signs and symptoms of this disease may begin when they reach the age of forty, and symptoms of dementia appear in the form of problems with understanding and memory, and confusion, and the risk of these patients developing Alzheimer's disease increases .
  • Sleep apnea: This is due to the occurrence of changes in the soft tissue structure of people with Down syndrome, which causes obstruction of the respiratory passages, and children and adults are considered the most vulnerable to this condition.
  • Other problems: such as obesity and leukemia.

Diagnosing Down Syndrome

Down syndrome is diagnosed in most cases during pregnancy by conducting certain tests. All pregnant women are subjected to the necessary tests to detect Down syndrome, regardless of the age of the mother. Blood tests and ultrasound can be relied upon during the first six months of pregnancy to detect Infection with this syndrome, and in the event that the screening tests show the possibility of developing Down syndrome, then the pregnant woman is subjected to a specific diagnostic test to confirm the infection, and among these diagnostic tests the following: [4]

  • Amniocentesis: where a sample of the amniotic fluid is examined by inserting a needle into the uterus under ultrasound guidance, and then an analysis of the fetus' chromosomes is performed.
  • Chorionic villus sampling. In this test, cells are taken from the placenta and analysis of fetal chromosomes is performed.


  1. ^ A b "Down SYNDROME" , , 8-3-2018, Retrieved 25-4-2018. Edited.
  2. "What Is Down Syndrome?" , , Retrieved 25-4-2018. Edited.
  3. "Down's syndrome" , , Retrieved 25-4-2018. Edited.
  4. Benjamin Wedro, MD, FACEP (22-8-2016), "Down Syndrome" , , Retrieved 25-4-2018. Edited.