Down syndrome

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Down syndrome, also called Trisomy 21, is set of mental and physical symptoms that result from having an extra copy of chromosome 21. Individuals with Down syndrome are characterized by a lower than average cognitive ability. Developmental disabilities of these individuals range from mild to moderate and a small number have severe to profound mental disability. The incidence of Down syndrome is estimated at 1 per 800 to 1,000 births.

Contents

Why should I be aware of this?

The chance of having a baby with Down syndrome increases as a woman gets older. The risk of conceiving a baby with Down syndrome increases with maternal age. Between the ages of 20 and 24 the risk is 1 in 1490 births. At age 40 the risk is 1 in 60 births, and at 49 the risk is 1 in 11 births. It is, however, seen that the majority of babies with Down syndrome are born to mothers under 35 years of age.

Down syndrome cannot be cured. However, many people with Down syndrome live productive lives well into adulthood.

How does this affect me?

There are other health problems associated with Down syndrome. Some may be born with heart disease. There are chances of dementia. Others may have hearing problems and problems with the intestines, eyes, thyroid and skeleton.

All about Down syndrome

Down syndrome is caused in children who inherit an extra copy of one of the body's chromosomes – bundles of genetic material which help control how people develop and live. Under normal conditions when the egg and sperm unite the 23 single chromosomes come together in pairs, forming 46 chromosomes in total. In some cases accidentally an extra 21st chromosome is formed in the embryo when a sperm or egg is forming. This causes Down syndrome to develop in the fetus. All the birth defects and characteristics common to Down syndrome result from having this second 21st chromosome, and this defect is repeated into all of the cells of the baby's body.

Symptoms

Most of those who have Down syndrome may have several of these characteristics:

  • A single crease across the palm of the hand, instead of the normal two
  • Almond shaped eyes because of a fold in the eyelid
  • Spots on the iris of the eyes
  • Ears folded over at the top
  • Protruding tongue
  • Short arms and legs
  • Poor muscle tone, almost floppy
  • Short neck
  • Congenital heart defects
  • Flat bridge of the nose

Health factors

Mild to moderate mental retardation is common to children with Down syndrome. They can also have serious problems with any of their bodily systems. Almost half of the Down syndrome children babies have heart defects. Some may require surgery, while others just need medication.

Children with Down syndrome are more susceptible to colds, ear infections, bronchitis, pneumonia and flu than normal children. They are also more at risk to have problems with thyroid function. These children should be regularly checked by a physician regularly for wellness check-ups and vaccinations.

What can I do?

  • Children with Down syndrome can crawl, walk, talk, play, given potty training just like any other child, but it may take them a little longer. Be patient and help them find their own ways.
  • It is good to get children into one of the pre-schools to help them develop their skills soon after birth.

90 degrees

Many children with Down syndrome complete their education and hold down jobs and become productive members of society. Some marry and lead normal lives, but except for rare occasions they cannot have children of their own.

Unlearn

In a new study based on an experiment on rodents, researchers at the National Institutes of Health in Maryland have discovered that a pregnant woman, who knows her unborn child has Down's syndrome, might one day be able to halt some symptoms in her womb. Researchers injected two key proteins (the nerve cells of which are starved by Down's syndrome, leading to problems with mental development) into pregnant mice with Down's pups and found the offspring to be free of these problems.

The researchers injected the proteins – NAP and SAL – into mice pregnant with trisomic pups in the middle of their pregnancy. [1]

References:

  • Down Syndrome
  • Understanding Down Syndrome

Source

  1. Down's syndrome 'may be treatable in the womb'