Down’s Syndrome

What is Down’s Syndrome?

Down’s Syndrome is a genetic disorder that happens when there is an abnormal cell division resulting in an extra partial or full copy of chromosome. Hence, it is also known by another name ‘Trisomy 21’. This extra chromosome causes certain mental and physical developmental disabilities and delays. With the recent medical advancements, it is now possible for people living with Down Syndrome to lead a healthy and fulfilling life.

What causes Down’s Syndrome?

Till date, there are no known environmental or developmental factors that are considered to be the main causes of Down’s syndrome. A human body cell contains 23 chromosomal pairs with one coming from mother and one from father in each pair. Down’s syndrome occurs, when there is abnormal cell division causing triple copy of chromosome 21. There are three genetic variations that can cause this condition in children:

• Trisomy 21: In 95% of the cases, a child develops three instead of two copies of chromosome 21 in all cells. This happens when there is a problem in the development process of sperm or egg cell.
• Mosaic Down Syndrome: This is a rare form of Down’s syndrome that causes only some cells to develop an extra copy of chromosome 21. This causes a mosaic of normal and abnormal cells and is mainly caused due to abnormal cell division after the fertilization.
• Translocation Down Syndrome: Down Syndrome can also take place when a chromosome 21 portion gets attached onto another chromosome before or during conception. This causes the children to develop additional genetic material attached to another chromosome in addition to regular two copies of chromosome 21.

What are the risk factors of Down’s Syndrome?

Some people are at a greater risk of conceiving a baby with Down’s Syndrome than the others. This happens due to the following risk factors:

• Advanced maternal age: As the age of the mother increases, her chances of giving birth to a kid with Down’s Syndrome increases. This is because older eggs are at a greater risk of improper chromosomal division.
• Genetic Translocation Down’s Syndrome Carriers: Many a times the translocation Down Syndrome gets passed down to the kids either through mother or father.
• Previous child with Down’s Syndrome: Parents who already have one child with Down’s Syndrome are at a greater risk of having another child with the same condition. In order to assess the risk of having second child, it is best for these parents to consult a genetic counselor first.

What are the common complications of Down’s Syndrome?

Some of the common complications that people with Down’s Syndrome may suffer from are as follows:

• delayed developmental milestones
• delayed cognitive development
• Heart defects
• Gastrointestinal defects
• Immunity disorders
• Sleep apnea
• Obesity
• Spinal issues
• Leukemia
• Dementia
• Other developmental health problems

In order to maintain a healthy lifestyle, getting routine medical care is important. If you are under the high-risk category for this condition, it is best to consult a doctor prior to conception/delivery.