Unfortunately, prevailing negative attitudes, low expectations, discrimination and exclusion ensure that people with Down syndrome are left behind. However, the theme emphasises that people with Down syndrome must have opportunities to live fulfilling lives, included on a full and equal basis with others, in all aspects of society. Here are some key facts about Down Syndrome.
What is Down Syndrome?
Down Syndrome is a genetic condition in which a person is born with an extra full or partial copy of chromosome 21. This additional genetic material changes how the child’s body and brain develop, causing the characteristics associated with Down Syndrome.
Types of Down Syndrome
There are three types of Down Syndrome, namely:
Trisomy 2: This is by far the most common type, accounting for about 95% of all Down Syndrome cases, trisomy occurs when a developing baby has 3 separate copies of chromosome 21 in every cell instead of the usual 2 copies.
Translocation Down syndrome: This rare type accounts for only 3-4% of all cases. As per the CDC, translocation Down syndrome occurs because an extra part or a whole extra chromosome 21 is present, but it is attached or ‘trans-located’ to a different chromosome rather than being a separate chromosome 21.
Mosaic Down syndrome: This is the rarest type, affecting about 2% of all cases. Mosaic Down syndrome occurs where only some cells have an extra chromosome 21.
It is difficult to identify each type without looking at the chromosomes mainly due to the fact that the effects of all three types are very similar.
What are the signs and symptoms of Down Syndrome?
While not all people with Down Syndrome have the same features, they have some common characteristic signs and may include:
Small head and ears
Flattened face
Protruding tongue
Short neck
Short height
Eyes that slant upward
Small hands and feet
Relatively short fingers and small hands and feet
Poor muscle tone
Babies with Down Syndrome can be born an average size, but they usually grow more slowly than a child without the condition. Generally, children with Down syndrome have mild to moderate cognitive impairment, their language is delayed, and both short and long-term memory is affected, as per Mayo Clinic.
“It is important to understand that individuals born with this disorder may have limited intellectual abilities. With increasing awareness, we are now seeing that individuals with it are being integrated into the society and community. While these children may take longer to acquire skills such as walking and talking, but with stimulation, they can acquire key life skills and attend school and, in some cases, college,” said Dr Shreyasi Sharma, Fetal Medicine Expert at the CK Birla Hospital for Women.
What causes Down Syndrome?
Down syndrome is caused by an extra chromosome, however, researchers don’t know for sure why the condition occurs or how many different factors play a role. In most cases, this condition is inherited.
Risk factors for Down syndrome include:
Advancing maternal age - a woman’s risk of having a baby with Down syndrome increases if she is 35 years or older.
People with a family history of Down syndrome.
People who carry the genetic translocation for Down syndrome.
How is Down syndrome diagnosed or treated? Can it be prevented?
There are many screening and diagnostic tests which can help in the diagnosis even before birth. As Down syndrome is a lifelong condition, getting routine medical care and treating issues when needed can help people with the condition maintain a healthy lifestyle. In fact, the life expectancy for people with Down syndrome has dramatically increased, with an average lifespan of 60 years, depending on the individual’s general health.
There’s no proven way to prevent this condition, however, parents can take steps that may reduce the risk. If you’re slightly older or at risk of having a child with Down syndrome, you should consult a gynaecologist before becoming pregnant.
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