Down’s Syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. This extra genetic material causes developmental changes and physical features. About 95 percent of the time, Down’s Syndrome is caused by trisomy 21 — the person has three copies of chromosome 21, instead of the usual two copies, in all cells. This is caused by abnormal cell division during the development of the sperm cell or the egg cell. Chromosomes are small “packages” of genes in the body. They determine how a baby’s body forms and functions as it grows during pregnancy and after birth. Typically, a baby is born with 46 chromosomes. This extra copy changes how the baby’s body and brain develop, which can cause both mental and physical challenges for the baby.
Even though people with Down’s Syndrome might act and look similar, each person has different abilities. They usually have an IQ (a measure of intelligence) in the mildly-to moderately low range and are slower to speak than other children.

Some common physical features of Down syndrome include:

• A flattened face, especially the bridge of the nose
• Almond-shaped eyes that slant up
• A short neck
• Small ears
• A tongue that tends to stick out of the mouth
• Tiny white spots on the iris (colored part) of the eye
• Small hands and feet
• A single line across the palm of the hand (palmar crease)
• Small pink fingers that sometimes curve toward the thumb
• Poor muscle tone or loose joints
• Shorter in height as children and adults

Down syndrome varies in severity among individuals, causing lifelong intellectual disability and developmental delays. It’s the most common genetic chromosomal disorder and cause of learning disabilities in children. It also commonly causes other medical abnormalities, including heart and gastrointestinal disorders.

Types Of Down’s Syndrome:

There are three types of Down’s Syndrome:

• trisomy 21 (nondisjunction)
• translocation
• and mosaicism

Treatment and Management:
Better understanding of Down’s Syndrome and early interventions can greatly increase the quality of life for children and adults with this disorder and help them live fulfilling lives. The management of patients with Down’s Syndrome is multidisciplinary.

Newborn with suspicion of Down’s Syndrome, should have a karyotyping done to confirm the diagnosis. The family needs to be referred to the clinical geneticist for the genetic testing and counselling of both the parents.

Parental education is one of the foremost aspects regarding the management of Down’s Syndrome, as parents need to be aware of the different possible conditions associated with it so that they can be diagnosed and treated appropriately. Treatment is basically symptomatic and complete recovery is not possible.

These patients should have their hearing and vision assessed and as they are more prone to have a cataract, therefore timely surgery is required. Thyroid function tests should be done on a yearly basis and if deranged should be managed accordingly.

A balanced diet, regular exercise, and physical therapy are needed for the optimum growth and weight gain, although feeding problems do improve after the cardiac surgery.

Cardiac referral should be sent for all the patients regardless of the clinical signs of congenital heart disease which if present should be corrected within the first 6 months of life to ensure optimum growth and development of the child.

Other specialties involved include a Developmental paediatrician, physical and occupational therapist, speech and language therapist, and audiologist.