It is not uncommon to find someone who has Down's Syndrome. There is no cure to this syndrome, so people need to know more about the nature, risks and symptoms, in order to be prepared for the birth and the development of the child through its formative years. Learning about the attributes of Down's Syndrome can assist in staying ahead and preventing complications.
What Defines Down's Syndrome?
Down's Syndrome, or Down Syndrome, once known as 'Mongolism' because of the individual's facial appearance, similar to that of the Mongolian peoples, is also known as Trisomy 21. Down's Syndrome is caused by a chromosomal disorder, set off by the existence of part of, or the entire extra 21st chromosome. John Langdon Down, a British doctor, described the syndrome in 1866. The syndrome was consequently named after him. The first mention of chromosome 21 Trisomy was in 1959 by Jerome Lejeune. The condition is characterised by a mixture of major and minor structural differences within the chromosome. Down's Syndrome causes problems with physical growth, facial appearance, psychological features and learning ability.
A person with Down's Syndrome will often have a below average intellect, manifesting in mild to moderate developmental disabilities. Unfortunately there are some individuals who will suffer a severe to profound mental disability. Down's Syndrome occurs in 1 in every 800 to 1000 births. These figures are influenced by the mother's age; the older the mother, the more likely the occurrence of a Down's Syndrome baby. There are of course other factors that play a part.
What are the Features?
There are several physical features that are common in Down's Syndrome caused by the chromosomal defect. Some of these features may include a single transverse crease in the palm of the hand, an almond shape to the eyes due to the epicanthal double eyelid upslanting palpebral fissures, poor muscle tone and shorter limbs.
Also there can be a bigger than usual space between the second and big toes and a protruding tongue, a heightened risk for gastroesphageal reflux disease or GERD, (a condition where food and liquid contained in the stomach can leak back into the oesophagus, causing heartburn and other symptoms). Congenital heart defects, obstructive sleep apnoea, (one or more pauses in breathing or shallow breaths while asleep), thyroid dysfunction and repeated ear infections can also be included in the health risks of a person suffering from Down's Syndrome.
Early childhood intervention, vocational training, common problem screening, medical treatment and a conducive family environment can help with the physical and educational development of a Down's Syndrome child. It must be understood that not all the features of the condition can be controlled.
About the Chromosomes
Normally a baby will inherit genetic information from both parents during conception through 46 chromosomes. 23 chromosomes come from the mother's side, while 23 come from the father. In cases of Down's Syndrome, a baby can inherit an extra chromosome 21. This then makes the total chromosome count 47 instead of the usual 46. This extra biological substance leads to delayed development and causes the physical features linked with Down's Syndrome.
To date no discovery has been made as to the true reason for Down's Syndrome occurring and there are no known ways to stop the chromosomal error that leads to the condition. Women of 35 years and over are more likely to bear a child with Down's Syndrome with a 1 in 350 chance. Whilst women of 30 years old have an estimated 1 in 900 chance of having a Down's Syndrome baby, those women 40 years and over have a 1 in 110 chance.
What can Parents Do to Alleviate the Problem?
Unfortunately there will always be a risk that a parent will bear a child or children with Down's Syndrome. These days there are the facilities to have early screenings and tests and consequently diagnosis. This gives the parents the opportunity to be prepared to have a Down's Syndrome baby. By making the necessary preparations, the birth and development of the Down's Syndrome child should be much easier and a joy to watch.
Sources
- Down's Syndrome NHS Choices
- Down Syndrome PubMed Health
- Kidshealth Down Syndrome
- Down Syndrome Children and Down Syndrome Pictures
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