Down Syndrome

What is Down syndrome?

Down syndrome is a genetic or chromosomal disorder and a lifelong condition that is caused due to an extra pair of chromosomes in the body. Normally, a baby is born with 46 chromosomes. The baby inherits one set of 23 chromosomes from their father and one set of 23 chromosomes from their mother. A child with Down syndrome has an extra 21st chromosome, increasing the total count to 47 chromosomes. This genetic variation causes delay in physical growth, brain development, and may cause mild to moderate intellectual disability.

Note:The medical term used to describe an extra copy of a chromosome is ‘trisomy.’ Hence, Down syndrome is also known as trisomy 21. 

What are the signs of Down syndrome?

The signs and severity of Down syndrome may vary from one child to another. Some children may be very healthy while others may have serious problems with physical or intellectual development.

Typically, children with Down syndrome reach their developmental milestones at a delayed pace compared to other children who have normal physiological development.

Some of the common features of Down syndrome include:

  • A flattened face, especially the bridge of the nose
  • Upward slanting eyes
  • Short neck and small ears
  • Tongue that tends to protrude out of the mouth
  • Poor muscle tone, loose joints and excessive flexibility
  • Broad, short hands with a single crease in the palm
  • Comparatively short fingers, small hands and feet
  • Shorter height
  • Brushfield spots in the eye (tiny white spots in the iris)

What causes Down syndrome?

Down syndrome is caused due the abnormal number of chromosomes in the body. Normally, a person has 46 chromosomes, but a child with Down syndrome has 47 chromosomes. This extra pair of chromosomes impact the physical development of the body and the brain.

Note: Down syndrome is not caused due to any environmental, ethnic, cultural, or intellectual factors.

Any one of these genetic variations can cause Down syndrome:

  • Trisomy 21 – A medical term used to define the extra copy of chromosome 21 in the body. It is observed that 95 percent of cases of Down syndrome are caused due to this extra copy of chromosome 21 in all cells.
  • Mosaic Down syndrome – This is a rare form of the condition where only a few cells have the extra copy of chromosome 21. Cell division after fertilization creates a few normal cells and abnormal cells.
  • Translocation Down syndrome – In this condition, a part of chromosome 21 breaks and attaches (translocates) to another chromosome. This is the only form of disorder that can be transmitted from parent to child. Here, the mother or father is a carrier of this genetic material but they are normal and healthy. They can pass this genetic material onto their children, which can cause Down syndrome.

The chances of passing this extra genetic material also depends on the parent who carries this rearranged chromosome 21:

- If the father is the carrier, the risk is around three percent

- If the mother is the carrier, the risk is between 10-15 percent

What are the complications of Down syndrome?

Some children with Down syndrome may have certain birth defect or medical problems. Doctors and experts monitor children for these issues and provide the required treatment and intervention.

Children with Down syndrome may have:

  • Hearing loss
  • Ear infection
  • Eye issues requiring glasses and eye diseases like cataract
  • Heart defect present at birth
  • Thyroid
  • Intestinal blockage that requires surgery
  • Anemia
  • Leukemia in infancy or early childhood
  • Obesity

How is Down syndrome diagnosed?

 Doctors can diagnose Down syndrome during pregnancy or after the birth of the baby. It will be helpful if the test is conducted during pregnancy so that parents can be prepared for their child's special needs.

  • Prenatal test: Screening and diagnostic tests are conducted during pregnancy. Screening test predict the chances of the fetus having Down syndrome while the diagnostic test provides an accurate diagnosis indicating that the baby will have Down syndrome.
  • Test at birth: After the birth of the child, doctors look for specific physical traits (features) that indicate Down syndrome. 

How can Down syndrome be managed?

Down syndrome is a lifelong condition. Early intervention, treatment or therapy can make a major difference in improving the quality of the child's life.

Treatment focuses on providing regular medical checkups, and using intervention programs to help the child's physical and intellectual development.

Note:Children with Down syndrome should get their vision and hearing checked and tested regularly because most children can be affected with hearing and vision problems at any time in their life.

Early intervention program: Includes a combination of programs to help stimulate and improve sensory, motor, and cognitive functions. A team of special educators, pediatricians, physiotherapists, occupational therapists, and speech therapists work together in conducting this intervention program. They also work on developing the child's language, social, and self-help skills.

Caring for a child with Down syndrome

Parents or guardians go through an enormous range of emotions and can be quite distraught when they know that their child is diagnosed with Down syndrome. It may take a while for them to accept the situation, but over a period of time, they get a sense of strength and purpose in taking care of their child and helping them live a fully functional and productive life. This wisdom and insight is beyond any common man's understanding. Their next action is to provide the best possible intervention and treatment for their loving child.

Note: The best antidote for fear is information and support. A better understanding of Down syndrome and early interventions can greatly increase the quality of your child's life.

You can consider some of these suggestions to take care of your child:

  • Intervention program:Find a team of trusted professionals, and decide on the type of treatment. Get involved in assisting the team so that you can continue this activity at home.
  • Seek support: Reach out to other families who are dealing with the same issue. Join a support group and connect with parents of children with Down syndrome. Family and friends can be a source of understanding and support.
  • Expect and prepare for a bright feature:Most children with Down syndrome learn to manage their day-to-day task quite independently, go to mainstream schools, read and write, have jobs, and lead a fulfilling life.
  • Maximize the child's strengths and potential: Normally, children with Down syndrome may have above-average intelligence and are blessed with certain skills and talents. For example, a child may be very good in swimming, dancing, cycling, etc. Parents can find ways to help the child use these skills, enjoy their activities of interest, and lead a healthy and happy life. 

What are the risks of being affected with Down syndrome?

Experts do not know how and why the chromosomes increase in number but they do speculate the risk factors that could increase the chances of a mother giving birth to a baby with Down syndrome.

Some of the risk factors include the following:

  • Doctors observe that the risk increases in late pregnancy ( 35 years or older), because older eggs have a greater risk of improper chromosome division.
  • If the first child has Down syndrome, the chances of the second child having Down syndrome is higher.
  • If either parent is a carrier of the extra genetic material, this will be passed on to the child, and the chances of the child being affected with Down syndrome is higher.

Can Down syndrome be prevented?

Down syndrome cannot be prevented but if you are at a high risk of having a child with Down syndrome or if you already have a child with Down syndrome, you may want to consult a genetic counselor before planning for your next child. A genetic counselor helps you understand your chances of having a child with Down syndrome, and how to deal with the situation. They also explain about the prenatal tests and their outcome.







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