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World Down’s Syndrome Day: What is the genetic condition?

There are 40,000 people in the UK with the condition

Olivia Petter
Friday 20 March 2020 09:15 GMT
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Down's syndrome: What is the genetic condition?

Down’s syndrome is a genetic condition caused by the presence of an extra chromosome in a baby’s cells.

The condition is typically diagnosed at birth and can go on to cause learning disabilities for the child, in addition to certain physical characteristics.

Down's syndrome affects roughly 40,000 people in the UK.

As people around the globe mark World Down Syndrome Day on 21 March, in a bid to raise awareness of the condition, here’s everything you need to know about Down’s Syndrome.

What is Down’s syndrome?

Down’s syndrome is a congenital disorder that affects roughly one in 1,000 babies born in the UK.

It often causes distinct physical characteristics that means it can be easily diagnosed soon after birth.

All pregnant women are offered screening tests for Down’s syndrome. The tests themselves won’t be able to tell for certain whether or not an unborn child has the condition, but they will be able to indicate the likelihood.

Those with Down’s syndrome will have a learning disability, but the severity of this varies between patients, as no two people with the condition experience it in the exact same way.

What are the common physical characteristics?

According to the NHS, physical characteristics that are common for those with Down’s syndrome include eyes that slant upwards, a flat back of the head, broad hands with short fingers, below-average weight and a small mouth “with a tongue that they may stick out”.

But people with Down’s syndrome don’t all look the same and, like non-sufferers, will also acquire some physical traits from their parents.

They may also experience hypotonia, which is the medical term for decreased muscle tone.

What are the common psychological characteristics?

While there are no common personality traits for those with Down’s syndrome, many will favour routine as a way of maintaining control over their lives, claims the Down’s Syndrome Association.

Similarly, people with Down’s syndrome may also use self-talk as a way of directing their behaviour, expressing their feelings and making sense of what is sometimes a very confusing world,” the charity’s website reads.

All children with Down’s syndrome will also experience some degree of learning disability and delays in their development. For example, children with the condition might take longer to learn how to walk, talk and stand than others. For these reasons, they may need extra support in school.

The NHS states that one in 10 children with Down’s syndrome will also have other behavioural conditions, such as autism spectrum disorder or attention deficit disorder.

What causes it?

Down’s syndrome is caused by the presence of an extra chromosome 21 (in addition to the 46 most people have) that can come from the mother or the father.

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It’s not yet known what causes this additional chromosome, but it can occur in babies of all races and social backgrounds.

How is it managed?

People with Down’s syndrome can go on to live healthy and fulfilling lives so long as they get the support they need as a child and into adulthood.

There is plenty of support for parents whose children have Down’s syndrome on the Down’s Syndrome Association website, with tips on how best to help your child with their learning and development.

These may include playing games to teach them new words, encouraging them to socialise with other children and encouraging them to be independent.

There’s also plenty of professional support available, such as speech and language therapy (this can help with any communication issues) and physiotherapy to help remedy muscle weakness.

While there are special schools designed for those with learning difficulties, lots of children with Down’s syndrome are educated in mainstream schools.

But it’s worth noting that the needs of a child with Down's syndrome will vary, and some parents may choose to talk to school staff about how best to accommodate these before enrolling them.

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