Down’s syndrome – Trisomy of Chromosomes

Chromosomes are extremely crucial to the overall development of kids. A slightest change in the forms and patterns of chromosomes can affect the physical and mental development of every single child. One such chromosomal disorder is known as the Down’s syndrome also referred to as Trisomy 21. Down’s syndrome basically is a condition wherein the inheritance of an extra chromosome can alter the physical features and development and may need extra medical attention.

Causes of Down’s syndrome:

On a common note, during the conception phase, the genetic information is inherited by the baby from its parents. This information is in the form of chromosome. 23 chromosomes are inherited from the mother and 23 from the father bringing it to a total of 46 chromosomes. This is a regular case of conception. In the Down’s syndrome cases, sadly the child receives an extra chromosome popularly known as Chromosome 21 that changes the total count of chromosomes to 47 instead of 46. This extra chromosome can have a life – changing impact on the physical appearance of the child alongside a few developmental delays.

Image courtesy: www.rapi.nhs.uk
Image courtesy: www.rapi.nhs.uk
The reason for occurrence of this condition is not known to anyone. Several scientists through their research have opined that the greater risk of this condition can be attributed to ladies who have late pregnancies and are above 35 years of age. However, there is absolutely no solution to prevent the occurrence of this chromosomal error.

How kids are affected by Down’s syndrome?

There are several ways in which kids are affected by Down’s syndrome.      Some kids may have altered physical features like a protruded tongue and small ears. Others may have flat facial profile and slanted eyes in the upward direction.

Hypotonia or low muscle tone is another condition that makes the kids appear flaccid. This condition can improve in due course of time but the child is incapable of achieving developmental milestones. For instance: The child reaches the stage of crawling extremely late in comparison to the other kids. The growth rate is extremely slower in kids with Down’s syndrome with digestive problems and constipation issues. Speech delays are extremely common. Delay in self- care skills potty training, dressing and feeding can be extremely evident.

The presence of intellectual impairments in kids can affect their learning journey drastically.

Medical issues:

Most of the kids with Down’s syndrome may not show up severe medical issues while others may have grave medical issues. Some of such issues can be a defect of congenital*congenital*
➤ (s) present at birth but not necessarily hereditary; acquired during fetal development
…by BeeDictionary.com
heart, pulmonary*pulmonary*
➤ (a) relating to or affecting the lungs
…by BeeDictionary.com
hypertension that causes acute damages of the lungs, vision and hearing issues etc. One needs to consult pediatric cardiologist, audiologist, and otolaryngologist for all the above mentioned issues to treat these issues as they can impact the learning and the language skills of the child with Down’s syndrome.

Other problems the kids are prone to are thyroid issues, obesity, leukemia, seizures, asthma, insomnia, intestinal issues etc.

Diagnosis:

Down’s syndrome can be detected through Pre-natal screening and Down’s syndrome diagnostic tests. These tests are performed during the pregnancy period and have a 99% accuracy record. These tests are cost effective too.

Some of the screening tests are as follows:

  • Integrated screening
  • Cell free DNA
  • Nuchal Translucency tests
  • An ultrasound of the of the genetics
  • Multiple marker test

Diagnostic tests for the Down’s syndrome are as follows:

  • Cordocentesis
  • Chronic villus sampling
  • Amniocentesis

Children with Down’s syndrome can be enrolled with early intervention services to help the kids in combating their developmental issues. The decision of sending your child with Down’s syndrome lies with you. Some kids go to school on a normal basis while others prefer to stay at home. Kids with Down’s syndrome have procured jobs and are doing extremely well in their respective professional arenas.

Reference:

http://kidshealth.org/parent/medical/genetic/down_syndrome.html#