What is Down's Syndrome?

March 20, 2017

 

This week is dedicated to raising awareness about Down's syndrome (DS), which is now affecting over 60,000 people in the UK. As with any condition, knowing some basic information about it is important, as it helps us understand how somebody with the condition might behave, but also what the society can do to help them integrate easily and assist in being socially active. 

 

This week we will look at different aspects of DS like employment, aging, what it is like to be a carer for somebody with DS, but firstly, we will explain some basic facts about DS. 

 

 

What is Down's Syndrome? 

 

DS is caused by the presence of an extra chromosome no. 21 in baby’s cells. In the majority of cases, DS is not an inherited condition and it usually occurs because of a chance happening at the time of conception. What causes the presence of an extra chromosome 21 is yet unknown.

It can come from either the mother or the father, but there is no way of predicting whether a person is more or less likely to make and egg or sperm with 24 chromosomes. There is a definite link with advanced maternal age for reasons yet unknown (most babies with DS are born to women under the age of 35).

What we do know is that no one is to blame. Nothing done before or during pregnancy can cause Down’s syndrome. It occurs in all races, social classes and in all countries throughout the world. It can happen to anyone.

 

 

Types of Down's Syndrome

 

There are three types of DS: 

 

Trisomy 21: this is the most common type of DS and it means there is an extra chromosome 21 in every cell. 

 

Mosaicism: there is an extra chromosome in some, but not in all of the cells. Fewer symptoms of DS are present. 

 

Translocation: there is only only an extra part of chromosome 21. There are 46 total chromosomes. However, one of them has an extra piece of chromosome 21 attached.

 

 

What are the symptoms of Down's syndrome? 

 

At birth, babies with DS usually have certain characteristic signs, including flat facial features, small head and ears, short neck, bulging tongue, eyes that slant upward, oddly shaped ears, poor muscle tone. An infant with Down syndrome can be born at normal size but will develop more slowly than a child without the condition.

 

People with Down syndrome usually have some degree of mental disability, but it’s often mild to moderate. Mental and social development delays may mean that the child could have impulsive behavior, poor judgment, short attention span and slow learning capabilities. 

 

There are certain medical complications that individuals affected by DS might be more prone to. These may include:

 

- congenital heart defects

- hearing loss

- poor vision

- cataracts (clouded eyes)

- hip problems, such as dislocations

- leukemia

- chronic constipation

- sleep apnea (interrupted breathing during sleep)

- dementia (thought and memory problems)

- hypothyroidism (low thyroid function)

- obesity

- late tooth growth, causing problems with chewing

- Alzheimer’s

- more prone to infection. 

 

 

Treating Down's Syndrome

 

There is no cure for DS, but there is also a wide variety of support and educational programs that can help both people with the condition and their families. 

 

Available programs start with interventions in infancy. School is an important part of the life of a child with DS, regardless of intellectual ability. Public and private schools support people with DS and their families with integrated classrooms and special education opportunities. Schooling allows valuable socialization and helps students with DS build important life skills.

 

 

Living With Down's Syndrome

 

Lifespan for people with DS has improved dramatically in recent decades. In 1960, a baby born with DS often didn’t see their 10th birthday. Today, life expectancy for people with DS has reached an average of 60.

 

If you are raising a child with DS, you will need a close relationship with medical professionals who understand the condition’s unique challenges. In addition to larger concerns, like heart defects and leukemia, people with DS may need to be guarded from common infections such as colds.


People with DS are living longer and richer lives than ever. Though they can often face a unique set of challenges, they can also overcome those obstacles in ways that inspire the rest of us. Building a strong support network of experienced professionals and understanding family and friends is crucial for the success of people with DS and their families. Their voice needs to be heard, which is why it is so important to listen and learn. Below, we have shared some inspirational stories. To watch more, click

here.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Sources: 

- Down's Syndrome Association, 20.3.2017 (https://www.downs-syndrome.org.uk/)

- NDSS, 20.3.17 (http://www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome/)

- Healthline, 20.3.2017 (http://www.healthline.com/health/down-syndrome#Treatment7)

- Downsyndrome Extra 21, 20.3.2017 (http://www.extra21.org.uk/facts-and-figures-faqs/)

 

 

 

 

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