Down Syndrome

TRISOMY 21 IN DOWN SYNDROME

Down syndrome (DS) is a condition in which extra genetic material causes delays in the way a child develops, and often leads to mental retardation. It affects 1 in every 800 babies born. The symptoms of Down syndrome can vary widely from child to child. While some kids with DS need a lot of medical attention, others lead very healthy and independent lives. Though Down syndrome can't be prevented, it can be detected before a child is born. The health problems that can go along with DS can be treated, and there are many resources within communities to help kids and their families who are living with the condition

Normally, at the time of conception a baby inherits genetic information from its parents in the form of 46 chromosomes, 23 from the mother and 23 from the father. In most cases of Down syndrome, however, a child gets an extra chromosome - a total of 47 chromosomes instead of 46. It's this extra genetic material that causes the physical and cognitive delays associated with DS.

Although no one knows for sure why DS occurs and there is not any way till now to prevent the chromosomal error that causes it, scientists do know that women age 35 and older have a significantly higher risk of having a child with the condition. At age 30, for example, a woman has less than a 1 in 800 chance of conceiving a child with DS. Those odds increase to 1 in 400 by age 35. By 42, it jumps to about 1 in 60.

It is estimated that India has about 12, 50,000 persons affected by this problem.

What is the cause of Down syndrome?

Although many theories have been developed, it is not known what actually causes Down syndrome. Some professionals believe that hormonal abnormalities, X-rays, viral infections, immunologic problems, or genetic predisposition may be the cause of the improper cell division resulting in Down syndrome.

It is confirmed that the risk of having a child with Down syndrome increases with advancing age of the mother; i.e., the older the mother, the greater the possibility that she may have a child with Down syndrome. . Some investigations also indicate that older fathers may also be at an increased risk of having a child with Down syndrome.

It is well known that the extra chromosome in trisomy 21 could either originate in the mother or the father. Most often, however, the extra chromosome is coming from the mother.

Symptoms of Down Syndrome.

  • An upward slant to the eyes
  • small ears
  • a single crease across the center of the palms
  • enlarged tongue
  • low muscle tone and loose joints-"floppy."
  • delay in Developmental milestones
  • delays in speech and self-care skills like feeding, dressing, and toilet teaching.
  • Most children have mild to moderate mental retardation

Medical problems associated with Down Syndrome.

  • Forty to 45 percent of children with Down syndrome have congenital heart disease
  • Prone to get Pulmonary Hypertension
  • Sixty to 80 percent of children with Down syndrome have hearing deficits
  • Vision- 3 percent of infants with Down syndrome have cataracts. Other eye problems such as
  • cross-eye (strabismus), near-sightedness, far-sightedness amblyopia (lazy eye), and other eye conditions are frequently observed in children with Down syndrome.
  • 15 and 20 per cent of children with Down syndrome have hypothyroidism intestinal abnormalities, seizure disorders, respiratory problems, obesity, an increased susceptibility to infection, and a higher risk of childhood leukemia. Fortunately, many of these conditions are treatable.
  • Skeletal problems have also been noted at a higher frequency in children with Down syndrome, including kneecap subluxation (incomplete or partial dislocation), hip dislocation, and atlantoaxial instability. The latter condition occurs when the first two neck bones are not well aligned because of the presence of loose ligaments.

Treatment

There is no cure for Down syndrome, nor can it be prevented. Scientists do not know why problems involving chromosome 21 occur. Nothing either parent did, or did not do, caused Down syndrome

Experts recommend enrolling kids with Down syndrome in early intervention services as soon as possible after such a child is born. Physical, occupational, and speech therapists and early-childhood educators can work with the child to develop motor skills and language, and show how to encourage these skills at home.

At present over 24 (November 2016) pure Down syndrome children are undergoing habilitations in the main centre as well as at CDEIRC