Down syndrome symptoms

November 12, 2012

Down syndrome symptoms

Children who are born with Down syndrome will have this condition all their life and can lead happy and healthy productive lives if given support and care.

Down syndrome symptoms present as the child having particular mental and physical characteristics such as a shorter neck and a flat face.

The cause of Down syndrome is the result of a faulty gene. The problem happens long before a baby is born and is due to the number of chromosomes the baby has. A baby is normally born with 46 chromosomes but children with Down syndrome have 47. Down syndrome symptoms affect the development of the body and the brain when there are abnormal or extra chromosomes. There have been cases where other chromosomes were related to a child being born with this syndrome but this is extremely rare.

Experts in this field still do not know what causes this genetic problem. There are certain risk factors which may increase the possibility of giving birth to a baby who has Down syndrome. These are:

  • Having a sibling with Down syndrome

  • Many medical professionals are of the opinion that women who are older have an increased risk of giving birth to a baby with genetic problems. The say the risk is higher in women over aged 35. Women who are in their 20s and into their early 30s can have children who have Down syndrome. This is because as a group women of this age tend to have more children than women who are older.

  • Women who have had a pregnancy before and signs of Down syndrome were present in the fetus.

Children being born with the condition can present the following Down syndrome symptoms:

  • Short arms, legs and neck

  • Below average intelligence

  • Loose joints and weak muscles. The muscle tone normally improves later in their childhood

  • Facial features are distinct, e.g. small ears and mouth, slanting eyes and a flat face

The child may be born with particular health conditions such as problems with the heart, ears, intestine, and may also experience breathing problems. These conditions which can lead to other health related problems such as hearing loss or infections of the respiratory system are common Down syndrome symptoms.

To make a diagnosis of the presence of Down syndrome the doctor can carry out tests during pregnancy. These include a screening test which can help in finding out if the baby is at risk. These tests are not completely reliable. They sometimes produce false-negative or false-positive results.

A blood test and an ultrasound are carried out late on in the first trimester. The ultrasound can check the nuchal fold (thickness of the neck) on the baby which can be an indication of Down syndrome.

A blood test known as a quadruple screen or maternal serum triple screen can be carried out at the second trimester and the substances in the blood are measured. By doing this test they may be able to predict the chances of the baby having health problems or Down syndrome.

Should an abnormal result appear after a screen test the doctor may suggest another test known as karyotype (chromosome). More risks are associated with this

but it does offer a more accurate result.

It may be that the diagnosis of Down syndrome is made after the birth. Many doctors will be able to tell if a baby has Down syndrome symptoms based on a physical examination or the appearance of the baby. But for a full and accurate diagnosis the baby’s blood is tested and this can take approximately 3 weeks for the results to be known.

Treatment and testing for health problem for a baby with Down syndrome will begin very soon after the birth. Many babies experience other Down syndrome symptoms such as thyroid, ear or eye health related problems. The doctor will prepare a plan of treatment for the child as they grow and this should include physical and speech therapy. Occupational therapy will become involved as the child approaches adulthood and begins to learn skills for working.

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