World Down Syndrome Day

Date:

World Down Syndrome Day is marked every year on the 21st of March. This has been done since 2007. This year is no different, as this day will be commemorated under the theme “End the Stereotypes”. On this day usually people wear colourful socks, mismatched socks and even shoes.

The idea is to start a conversation, so when people ask you about your socks you can tell them, “I’m wearing them to raise awareness of Down syndrome”.

This week’s column will focus on the clinical aspects of this condition and explaining what it entails.

Down Syndrome is a genetic condition that is common. Individuals that have this condition are born with an extra chromosome. Usually individuals have 23 pairs of chromosomes making a total of 46, while those with Down Syndrome have 47, as they have an extra chromosome 21. 

Chromosomes are small packages of DNA that contain our genetic material. This condition can happen to anyone and can occur randomly. It has been shown though that mothers that are above the age of 35 years are more at risk of giving birth to babies with Down Syndrome.

The extra genetic material results in some developmental delays and physical changes that are typical of Down Syndrome. The severity of the condition also differs among individuals. Some of the common features of this condition include distinct facial features which include a small head, short neck, flat face, upward slanting eye lids, small ear and a protruding tongue.

This babies are usually small and can have poor muscle tone. They may have small, broad hands and feet. Their hands may have only 1 line across the palms.

In addition to the physical features there is delay in the development of language. They may also have their short term and long term memory affected. They may also have some behavioural problems which include stubbornness, tantrums, and difficulty paying attention.

As this babies grown into adulthood unfortunately the can develop some other complications related to the condition. Some of these complications include heart defects, with the most common being holes in between the heart chambers. They also have to spinal problems which can lead to malalignment of the spine, weight gain, sleeping problems, abnormalities of the stomach and intestines and they also have poor immune systems which predisposes them to recurrent infections and some blood cancers.  People with Down Syndrome are also at an increased risk of developing dementia.

There is no specific way of preventing Down Syndrome. Mothers who are at risk need to discuss with a genetic counsellor before planning on getting pregnant again. Those that are already pregnant can have a test in early pregnancy at around 10 to 14 weeks to determine if they are at risk of having a baby with this condition.

It is important that we have a better understanding of this condition and are able to pick it up as well as to be able to better manage the complications. Individuals with this conditions are able to live a fulfilling life way into adulthood and it’s up to us to be more acceptful and “end stereotypes”

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