Down Syndrome is a birth defect that is trigger by an abnormality in chromosomes. (the cellular structures that contain the genetic material of the body). People with Down Syndrome have three chromosomes 21 instead of a single pair. This imbalance in the functioning of the genome (all the hereditary information present in human cells) and the body causes permanent mental retardation and developmental delay.

Down’s Syndrome is also known as Trisomy 21. In particular, early intervention can make a big difference in the quality of life of children and adults with the disease. Further, in the vast majority of cases, this disease is not hereditary, means, it is not transmitted from parents to their children.

Since 2012, World Down Syndrome Day is officially recognized by the UN on March 21st. This date symbolizes the 3 chromosomes 21 at the beginning of the disease. As a result, the purpose of this Day is to raise awareness and inform the general public about Down Syndrome.

Causes and Risk Factors of Down Syndrome

The extra copy of chromosome 21 leads to the physical features and developmental challenges that can occur among people with trisomy 21. In fact, all cells in the body contain genes grouped with chromosomes. In each cell there are normally 46 chromosomes; 23 inherited from the mother and 23 from the father. Down syndrome occurs when all of a person’s cells have an extra copy of chromosome 21. However, researchers know that Down syndrome is caused by an extra chromosome, but they are not clear why Down syndrome occurs or what are the different factors play a role.

Mother’s age is one factor that increases the risk of having a baby with trisomy 21. Consequently, women who are 35 years or above are more likely to have a pregnancy affected by Down syndrome during pregnancy than women who become pregnant at a younger age.

Signs and Symptoms of Down Syndrome

From a very young age, a child with Down syndrome has the following characteristic physical features:

1. A flattened face.

2. A flat nasal bridge.

3. Short limbs and trunk.

4. Soft muscles and joints.

5. Slanting eyes (Almond-shaped).

6. A short neck, small head, and ears.

7. Mild to moderate mental retardation.

8. Epicanthus (skin folds above the upper eyelid).

9. A tongue that is abnormally advanced out of the mouth.

10. Slow growth and generally less height than children of the same age.

11. In babies, a delay in learning abilities such as turning around, sitting down and crawling due to low muscle tone.

Complications Associated with Down Syndrome

Children with trisomy 21 sometimes suffer from certain specific complications:

a. Heart defects: According to the Canadian Down Syndrome Society (SCSD), over 40% of children with the syndrome have congenital heart defects present at birth.

b. Gastrointestinal defects: An abnormalities of trachea, intestines, esophagus; digestives problems like intestinal obstruction (or blockage), GERD, Celiac disease, etc.

c. Immune disorders: Susceptibility to infections such as pneumonia, due to decreased immunity.

d. An increased risk of hypothyroidism (weak thyroid hormone), leukemia or convulsions.

e. Adults with Down syndrome are more prone to the early form of Alzheimer’s disease.

f. A language delay, sometimes aggravated by the loss of hearing.

g. An increased risk of sleep apnea.

h. Eye and eye disorders.

i. A tendency to obesity

j. In men with infertility.

Effects on the family: The arrival of a baby with Down syndrome in the family may require a period of adjustment. These children require special care and extra attention. Take the time to get to know your child and make a place for him in the family. Therefore, each child with this condition has its own personality and needs as much love and support as others.

Treatment and Prevention for Down Syndrome

Many adults with Down syndrome are employed and are semi-independent. These people are increasingly integrated into society and community groups. A better understanding of Down’s Syndrome and advances in the treatment of related medical conditions allow people to lead a fuller and more active life. Children who grow up at home and participate in all facets of life in society are better at exploiting their potential and succeed in leading more independent lives.

Early and adequate health care helps reduce the risks associated with Down Syndrome, such as heart problems or thyroid dysfunction. Thanks to therapeutic breakthroughs, most adults live to age 55, and some even longer.

However, screening for Down syndrome is possible during pregnancy; thus, parents can consider in advance the different options available to them. For some parents of affected children, being able to share their emotions reassures them, comforts them and provides them with valuable support.