Down syndrome – Symptoms and causes

Down syndrome is a genetic condition caused when a child is born with an extra or partial copy of their 21st chromosome. It is also called trisomy 21. This causes delays and disabilities in the physical and mental development of the body.

Down syndrome initially occurs with mild, moderate or severe symptoms and it varies based on the genetic conditions of an individual. The affected people have distinct facial features. 

Types of Down syndrome

The three are the primary genetic variations that cause Down syndrome in a person:

1. Trisomy 21:  90% of the time, Down syndrome is caused due to Trisomy 21. This is caused due to three copies of chromosome 21 instead of the original two copies.
2. Mosaic Down syndrome: Mosaic syndrome is quite similar to the case of Trisomy 21. This is a form of Down syndrome where a person has only a few cells with an additional copy of chromosome 21.
3. Translocation Down syndrome:  Translocation Down syndrome occurs when one chromosome combines with an additional chromosome. 

Most common symptoms of Down syndrome

The symptoms vary from person to person. Typically, people diagnosed with Down syndrome may face difficulty in reasoning, thinking and understanding. It may require a long unspecified time to learn to talk, walk and adapt to social conditions. 

Here are the common symptoms of Down syndrome:

• Flattened face
• Small head
• Short neck
• Protruding tongue
• Upward slanting eyelids (palpebral fissures)
• Unusually shaped or small ears
• Poor muscle tone
• Excessive flexibility
• Short height

Risk factors of Down syndrome

The most common risk factors of Down syndrome include:

Pregnancy delay

Women’s chances of getting pregnant after 35 years increase the threat of getting affected by Down syndrome. The primary reason is the weakness of eggs above the age of 35. But, in most cases, women who give birth at an early age are likely to get affected with Down syndrome because of their extra egg production.

Genetic translocation for Down syndrome:

Parents have the chance of transmitting Down syndrome to their newborn babies. They can pass the genetic translocation for Down syndrome on to their children.

Having had one child with Down syndrome:

Parents having a child affected with Down syndrome by birth have an increased chance of having another child in the future with Down syndrome. Therefore, before desiring to have a baby, consult a genetic counsellor who can help you more with Down syndrome-related problems in the future.

Complications involved in Down syndrome

Down syndrome has a bunch of complications; some of them are recognised once they get older. These complications include:

• Obesity
• Immune disorders
• Spinal problems
• Dementia
• Heart defects
• Sleeping disorders
• Leukemia
• Ear problems
• Seizures

How to prevent Down syndrome?

Down syndrome cannot be prevented, especially in the early stages of birth. Parents with a child diagnosed with Down syndrome or parents affected by the genetic transmutation of Down syndrome should consult an expert doctor in genetics and get guidance.

When to see your doctor?

Children with Down syndrome are diagnosed before or after the first three months of birth. However, if you have any questions regarding your pregnancy or your child’s growth and development, talk to your doctor, and he will guide you accordingly.

There are 23 chromosome pairs present in the human body. Down syndrome primarily occurs due to abnormal cell division. These abnormalities result in extra partial chromosome 21. 

Treatment for Down syndrome

Early treatment of Children with Down syndrome reduces the chances of Down syndrome complications. The conditions of Down syndrome are unique in each case. Therefore, the treatment for Down syndrome should be initiated much before to avoid unnecessary problems in the future.

However, there are no special treatments for Down syndrome. Therapies like mental and physical therapies are involved in treating Down syndrome.

Below are the few activities and therapies that are involved in the treatment of Down syndrome.

• Physical therapy, occupational therapy and speech therapy
• Specialized education services
• Social activities development
• Teaching self-care skills

It would be helpful if you keep in touch with your doctor to clarify your Down syndrome.

Conclusion

Many characteristics and diseases in individuals with Down syndrome are treatable with therapy and treatments. They benefit from medical treatment, support and education throughout their lives. People with Down syndrome, like everyone else, go to school, work, have significant relationships and may live a healthy and active life.