World Down Syndrome Day.
World Down Syndrome Day (WDSD) is on the 21st March. It is always this date, every year, the 21st March. I have heard people ask “why that date?” And this is why I am writing this blog. WDSD raises awareness of Down syndrome. If you don’t know why this date was chosen then you are in the right place.
What is Down syndrome?
Down Syndrome or trisomy 21 is a genetic disorder. In each cell in the human body we have our DNA. This DNA is organised into tangled strands called chromosomes. Humans have 46 chromosomes set in matched pairs of which we got one from our mum and one from our dad. In Down Dyndrome something goes amiss at the very early stage either at fertilisation of the egg or very soon after. This mishap results in the cells containing 3 copies of the the number 21 chromosome hence trisomy 21. This extra copy of the 21st chromosome causes these genes to be expressed three times instead of two like in the other chromosomes. This extra expression of genes gives the characteristics of Down syndrome.
Down Syndrome has some physical characteristics which is probably what you would spot first before you said hello to someone with Down Syndrome. They tend to have small facial features like small ears, eyes and noses, they might be a little shorter than average, they might also be wearing glasses or have a hearing aid. These however are tendencies and tendencies don’t mean every person has all of these. I know plenty of people with Down Syndrome who have great eye sight and hearing and are the same height as their family members. There are some other physical characteristics that are on the inside so you won’t see them when you meet someone. Some people are born with heart defects some are not, some have digestive problems some don’t and some have hypotonia.
Hypotonia is the medical term for low muscle tone. Low muscle tone makes doing physical things a bit more difficult. Everyday things that we do all require the use of our muscles. Walking, talking, even digesting our food. If you have low muscle tone then your body will be weaker and it will take longer for a baby to learn physical skills. This is why some babies and children with Down Syndrome take a bit longer to hit some milestones like crawling and walking. The other affects of low muscle tone is in the mouth. This can make it difficult to move food around the mouth, swallow and form the shapes needed for speech. Most people with Down Syndrome have full understanding of speech and language, many are bi or multi lingual but low muscle tone may mean that speech is difficult to master and many find some words difficult to pronounce and therefore choose the easier option of just using a few words.
Caleb learning to use his core muscles to lift his head during tummy time. this can be a difficult skill to learn if hypotonia is present. Photo courtesy of Ashlea Hugh
One other feature of Down Syndrome is learning difficulties. Now this does not mean people with Down syndrome are not intelligent it just means they find learning more difficult. Most people with Down Syndrome can read and write, do maths, go to mainstream schools, pass exams, get qualifications and jobs. Yes for some it might take a bit longer to get there and given the right opportunities many people with Down syndrome can live happy fulfilling independent lives.
So there you go. My aim here was to make you aware of Down Syndrome and I hope I have done that. And now you know why March the 21st is World Down Syndrome Day.
For more information or to find your local Down syndrome support group please visit The Down Syndrome Association website (UK)