When a baby is born with Down syndrome, it raises countless questions for parents and society as a whole. What causes the extra chromosome that leads to this genetic condition? Is there any way to prevent it? And perhaps most importantly, what can we do to support individuals with Down syndrome so they can live full and happy lives?
In this article, we'll dive into these questions and more. So buckle up, because we're about to unveil the mystery of how Down syndrome babies come into existence!
What is Down Syndrome?
Before we get too deep into the causes of Down syndrome, let's make sure we all know what it actually is (because let's face it – science words can be tough!).
Down syndrome is a genetic disorder that occurs when an individual has three copies of chromosome 21 instead of two. This additional genetic material leads to a range of physical and cognitive differences that are unique to each person with DS.
Some common characteristics include:
- Short stature
- Low muscle tone
- Difficulty learning
- Unique facial features such as almond-shaped eyes
Now that you have some background information on what exactly downsyndrome entails(there you go), let’s explore its origin.
How Does It Happen?
So here’s where things get scientific (and potentially confusing). As I mentioned earlier, Down syndrome occurs when an individual has three copies of chromosome 21 instead of two. But why does this happen in the first place?
There are three types of chromosomal abnormalities that can lead to someone having extra chromosomal material:
This accounts for over 95% cases(downs)of human creatures who’ve gone through folks’ wombs(The experts put chromosomes under scopes but nobody really knows what goes on in there.). In trisomy 21/aka nondisjunction(when chromosomes fail to separate), an extra copy of the 21st chromosome is present in every cell.
This case takes place during cleavage, when the fertilized egg divides and ends up with three copies (instead of two) as a result of bad division at early stages.
Translocation Down Syndrome
this particular case happens to roughly about 4% cases(floor spot). In translocation DS, genetic material from chromosome 21 attaches itself to another chromosome instead (usually 14/15/22), resulting again in among others -Yes, you guessed it-, trisomy(3+1=4 afterall!).
Accounting for the rarest form(most wouldn’t know they have it either), mosaic Down syndrome occurs only in about one percent(approximately)of all individuals.In other words(simple explanation coming through!), on’chromosome set’ may contain an extra copy o chromosome twenty-one.The remaining cells are normal,hence uneven distribution within their own body. A mosaic individual can express less symptoms than regular downies. Those are three direct causes So there you go,a mini-tutorial into genetics!(I doubt your biology teacher would beat that!)
Does Age Play a Role? Yes!
In short(answer has been given already!),yes,(not timekeeper kind of yes but yeah i guess ya’ll get what I am saying haha!). Advanced maternal age , thirty-five or older being considered so(Bye-bye time keeper😂). So here's some enlightenment;as females advance towards advanced maternal agehood ,the chance for genetic abnormalities such as Downs increases with multiplication(if twins were involved=>double trouble!!).
Why is this so?
The longer eggs remain inside ovaries,the more likely number separations errors during meiosis(proccess leading to sperm or egg formation) take place .
Thus ladies,don't hesitate,to pop 'em before modern nature decides
life's clock has struck the 35th blow;)!
Can Down Syndrome Be Prevented?
At this point of my life,I cannot say for sure (does it even exist?)Quite frankly, there’s no way to prevent trisomy 21 from occurring.That being said,toxins perhaps,especially exposure during pregnancy and environmental factors may potentiate the risk of these genetic aberrations.
However with currently available medical advancements,testings like antenatal screenings(amniocentesis,a minimally invasive procedure enabling doctors evaluate chromosome make-up prenatally), early diagnosis can help medics give insights into potential complications(some foetus might require surgeries immediately after birth or have breathing difficulties).Parents can get counselled on types of therapies provided by their local DS foundation.
This leads us to our next doubt;
What About Treatment?
As I mentioned earlier, individuals with Down syndrome have unique physical and cognitive differences. So oftentimes, they will benefit from a range of therapies such as speech therapy(may take rather longer than usual but,it's always best left to experts).Physical therapy(low muscle tone,Tirosomia traits manifest themselves through lack off muscle development as well),and occupational therapy(I personally think almost anyone would benefit post pandemic!!)
Individuals with down syndrome are more predisposed to some disease conditions(heart disorders,musculoskeletal system abnormalities etc.).Comprehensive health care must be given,but in terms of outright treatment cure(DS takedown 😂?), that isn't possible.(not at the moment!).The average lifespan however keeps increasing due constant efforts by researchers finding chinks necessary for correction(cheering ahead:)
Just so you're aware(nice customer service skills though!),there's an appellation dedicated self-advocates use when suggesting treatments - "nothing about us without us."It emphasizes folks living ,with downsyndrome need not only be heard,but also participated fully,in decision making.
I hope this article has helped to demystify Down syndrome a bit for you.A lot of us(not me or anyone living currently)are still eluded,finding it hard even properly referring to someone diagnosed with downsyndrome,let alone the genetics behind its origin.
It’s important that we all take steps towards greater understanding and acceptance of individuals with Down syndrome (as they are made in his image).
And who knows — maybe someday we’ll find ways to prevent Trisomy 21 altogether!
One Last Thing...
Before I let you go,I just wanted to say this:
If you're reading this as a parent or guardian of an individual with DS,opt for inclusivity,rather than exculsion(or seclusion).There may be some additional considerations your youngster will need from time and again(travelling or where medical attention is required),but overall,we’re more alike than different.