Down's Syndrome

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Overview

Down’s syndrome (DS) is a congenital condition caused by an extra copy or piece of chromosome 21 in all or most of the affected person’s cells. A group of signs, symptoms, birth defects, and complications arise from an error in cell division that occurs before, or shortly after conception. This error has a widespread effect on the physical and mental development of the affected person.

Chromosomes hold the body’s genetic blueprint. Most cells in the body contain 22 pairs of chromosomes and a 23rd set of either XX (in females) or XY (in males) for a total of 46 chromosomes. Reproductive cells (eggs and sperm) contain a single set of 23 chromosomes that combine when an egg is fertilized to form a new set of 46 in the fetus (half from each parent). In most cases of Down’s syndrome, an extra copy of chromosome 21 is present in either the egg or sperm. This is caused by a defect in the production of an egg or sperm cell which, although occurring infrequently, happens more often as a person gets older. The extra copy of chromosome 21 becomes part of the fertilized egg and is replicated in all of the embryo’s cells. This form of Down’s syndrome is called trisomy 21, and it accounts for about 95% of DS cases.

The error may also occur after conception, in the developing embryo. As the fetus grows, some cells may have 47 chromosomes, while others have 46. This form of Down’s syndrome is called mosaic trisomy 21.

In another rare form of Down’s syndrome called translocation trisomy 21, a piece of chromosome 21 attaches to another chromosome before or at conception. Even though the fetus has 46 chromosomes, it still has an extra portion of chromosome 21 in its cells. All individuals with additional chromosome 21 genetic material, regardless of the cause, will develop some of the features of Down’s syndrome.

Before the advent of screening, about 1 in 800 babies in the United Kingdom were born with Down’s syndrome. The chance of having an affected baby increases significantly as a woman ages. It increases from less than 1 in 1,000 in women under 30 to 1 in 400 by age 35 and to 1 in 12 by the time a woman is 49 years old. However, since more younger women become pregnant, the majority of those with Down’s syndrome, about 75%, will be born to women under 35. There are many characteristic signs and symptoms associated with Down’s syndrome. Not every child will have every one and the degree to which they are affected may vary greatly. Signs and symptoms include:

  • A small head with small, low-set ears
  • Slanting eyes, a broad flat face, and a short nose
  • A small mouth and protruding tongue
  • Short, small but broad hands and feet and a single crease across the palm
  • Short fingers and an abnormal bone in the 5th (little) finger
  • Poor muscle tone (hypotonia)
  • Hyperflexible joints
  • Atlantoaxial instability (a malformation of the top of the spine)
  • Mild to moderate mental retardation
  • Complications of Down’s syndrome vary greatly. Some may be present at birth, some may arise during childhood, others during adulthood, and others may never be experienced. Doctors and family members must be aware of these potential complications as patients may or may not be able to clearly communicate their symptoms and/or may express them in unexpected ways. Complications can include:

  • Coeliac disease
  • Dental disease
  • Developmental delays
  • Diabetes
  • Food sensitivities and constipation
  • Gastrointestinal abnormalities and obstructions (5 to 10%)
  • Hearing loss (75%)
  • Heart defects and disease (close to 50%)
  • Increased incidence of respiratory and ear infections, colds, bronchitis, tonsillitis, and pneumonia
  • Increased risk of acute leukaemia
  • Premature aging, loss of cognitive abilities, and Alzheimer’s type symptoms in patients under 40 years of age
  • Seizure disorders
  • Sleep apnoea (50 to 75%)
  • Spinal cord compression
  • Thyroid disease (about 15%)
  • Visual problems, including cataracts (about 60%)
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