Down Syndrome

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)

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

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

• 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.

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

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.

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.

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.