5 Facts About Down Syndrome That You Should Know

A child born with Down Syndrome might act or look like other children, but they usually have a mildly lower IQ (a measure of intelligence) and are slower to speak.

Down Syndrome, also called Trisomy 21 is defined as a condition in which a person is born with an extra chromosome. Chromosomes are small ‘packages’ of genes, which play an integral role in the form and function of a baby during pregnancy & after birth. In a normal situation, a baby is born with 46 chromosomes. However, a baby with Down Syndrome will have an extra set of chromosomes which can cause physical and mental challenges in the infant. The syndrome is named after British doctor John Langdon Down, who fully described the syndrome in 1866 & helped to differentiate the condition from a mental disability.

A child born with Down Syndrome might act or look like other children, but they usually have a mildly lower IQ (a measure of intelligence) and are slower to speak. Some standard physical features of children with Down Syndrome include a flattened face, especially the bridge of the nose, almond-shaped eyes that slant up, a short neck, small ears, hands & feet, tiny white spots on the iris (coloured part) of the eye and poor muscle tone or loose joints. In India, Down Syndrome affects approximately 23,000-29,000 children every year. Though the numbers are alarming, there is very little awareness about this condition. Below are five facts about Down Syndrome that you should know.

1. According to the World Health Organization, Down Syndrome is estimated at 1 in 1,1000 live births worldwide.
2. Eighty per cent of children either have Down Syndrome or Trisomy 21. Infants with Down Syndrome are normally born to mothers younger than 35yrs old. According to the National Down Syndrome Society, a 35-year-old woman has approximately a 1 in 350 chance of conceiving a child with Down Syndrome. In contrast, this chance increases gradually to 1 in 100 by age 40 and about 1 in 30 by age 45.
3. Trisomy 21 and Mosaicism are forms of Down Syndrome and are not inherited from a parent. These cases of Down Syndrome happen because random cell division occurs during the baby’s development. Further, there are two types of basic types of tests available to detect Down Syndrome during pregnancy: screening tests and diagnostic tests. Neither screening nor diagnostic tests can predict the full impact of Down Syndrome on a baby, and it is not possible to know this until the infant is born and diagnosed by specialists.
4. Infants with Down Syndrome who have Congenital Heart Defects have a higher risk of dying in the first year of their birth, than infants who have no heart issues. They are also at a higher risk of Sleep Apnea, hearing disorders and ear infections.
5. Early intervention is critical for cases of Down Syndrome. Although it cannot be cured, it is possible to improve the quality of life through treatment programs that include physical, speech, and occupational therapies, life skills classes, and educational opportunities.

In conclusion, infants born with Down Syndrome today have a higher chance of living a quality life as treatments and therapies are getting better every day. Additionally, an increased understanding of the preventive measures and complications associated with this condition enables caregivers, educators, and doctors to anticipate and plan for a longer future. If you think your new-born child is showing signs of Down Syndrome, we recommend you reach out to a specialist as a timely diagnosis is extremely important to avoid any future complications.

(With inputs by Dr Subash Rao, Consultant-Paediatrics, Hiranandani Hospital, Vashi-A Fortis Network Hospital)