Introduction
It’s a sad thing to see that in today’s world individuals especially children living with down syndrome are kept away from the public eye in isolation from exploring the possibilities in the world. Contrary to some preposterous African beliefs, down syndrome is not witchcraft nor punishment from God but simply a genetic disorder. Genetic disorders are inherited medical conditions caused by a DNA abnormality. DNA is the genetic material in the cell’s nucleus responsible for all the characteristic features of our body.
History of Down Syndrome
In 1866, John Langdon Down an English physician at the London Hospital was the first to describe the external appearance of the genetic condition that was later to bear his name. Though in time past, individuals who had down syndrome were abandoned and ostracized from society because the cause of the disorder was not understood. Today’s advancements in knowledge and technology have turned things around. The discovery of karyotyping techniques in the mid-twentieth century, (the 1950s) which could be used to help identify the shape and number of chromosomes, led to the understanding that trisomy 21 was the cause of Down’s syndrome.
Cause of Down Syndrome
Trisomy is a medical term for having an extra copy of a chromosome. In the general human population, unaffected individuals are found with 23 pairs of DNA materials called chromosomes. Each pair is inherited equally from both parents. Therefore it is expected that an individual has a pair (two varieties) of a particular chromosome usually labeled 1 to 22. The 23rd pair being either XX or XY sex chromosomes. Down syndrome is referred to as Trisomy 21 because the affected individual now has 3 copies of chromosome 21 instead of 2 due to a rather complicated error during cell division( a cellular process of reproduction and growth).
Characteristic features
According to the United States CDC, Many people with Down syndrome present with a common facial characteristic feature and no other major birth defects. However, some people with Down syndrome might have one or more major birth defects or other medical problems. Some of the more common health problems among children with Down syndrome are listed below:
Short stature- Hearing loss
- Small ears
- Ear infections
- Eye diseases
- Heart defect present at birth
- Obstructive sleep apnea, which is a condition where the person’s breathing temporarily stops while asleep
- Short neck and overall height
- Small hands and feet
- Tongue that sticks out
- Weak muscle tone and joints
Short statureHealth care providers routinely monitor children with Down syndrome for these conditions.
Diagnosis
Available today are diverse techniques employed to screen and diagnose down syndrome even before the arrival of neonates. They include blood tests, ultrasound scan, Chorionic villus sampling (CVS), Amniocentesis, and Percutaneous umbilical blood sampling (PUBS)
Treatment/support
Down syndrome has no known cure. Early support services including speech, occupational, and physical therapy, will often help babies and children with Down syndrome to improve their physical and intellectual abilities. Children with Down syndrome may also need extra help or attention in school.
Conclusion
A person born with down syndrome has different talents and the ability to thrive. It’s high time we started seeing every soul as precious and special, able to contribute to society in a supportive environment through services focused on helping children with Down syndrome develop to their full potential.
Now that you know better, act better, encourage others to do better. Together let break the cycle of stigmatization against persons affected by down syndrome and their families too.
