Know more about Down Syndrome genetic disorder
According to the UN, Down Syndrome affects one in every 800 births worldwide, which would mean that about 880 babies were born with Down Syndrome in Ghana last year. This statistics is a clear indication that it is quite common considering the general prevalence of genetic conditions.
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March 21 was observed as World Down Syndrome Day, which is a day set aside by the United Nations to raise public awareness and understanding of this condition. The theme for this year is, “Health and Wellbeing - Access and Equality for All”.
Interacting with people, I have found that most people have come into contact with people living with this genetic disorder but remain ignorant of its cause. It was attributed to a myriad of causes ranging from things the mother did or did not do during the pregnancy such as eating certain foods and alcohol intake. It was also curiously but unsurprisingly thought to be caused by a curse in some instances.
Chromosomes
Normally, each cell in the human body contains 23 pairs of chromosomes, which contain the genetic material that determines all our inherited characteristics. We receive half of each chromosome pair from our mother and the other half from our father.
Down Syndrome is a genetic condition caused by the presence of a partial or complete copy of chromosome 21 in either the egg or sperm. Individuals with the most common form of Down Syndrome have an extra 21st chromosome. It has been found that this extra chromosome 21 is found 88 per cent of the time, in the egg compared with only eight per cent in the sperm in the instances where it occurred.
The reason for the development of this extra copy of chromosome 21 is unknown. It is, however, clear that the risk of having a child with Down Syndrome increases with age and is significantly increased in pregnancies in women 35 years and over. It must, however, be emphasised that having a child with Down Syndrome can occur at any age.
It is also important to state that nothing has been found to suggest that the condition is linked to anything the parents did or did not do before, during or after the pregnancy. In more advanced medical centres, It is possible these days to pick up the condition during pregnancy and offer the prospective parents the choice of either keeping or terminating the pregnancy.
Physical and intellectual disabilities
The effect of this extra pair of chromosome 21 is that the affected child is born with physical and intellectual disabilities. Some of these physical characteristics are easily identified even by the untrained eye and is generally the way a child is usually diagnosed in Ghana.
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They include a small chin, slanted eyes, poor muscle tone, a flat nasal bridge, a single crease of the palm, and a protruding tongue due to a small mouth and large tongue. They also typically have poor immune function and have an increased risk of a number of other health problems, including: congenital heart disease, leukemia, thyroid disorders, seizures, mental illness, among others.
Many developmental milestones in the child are delayed, with the ability to crawl typically occurring around the eighth month rather than the sixth month and the ability to walk independently typically occurring around the 21st month rather than the 12th month.
Individuals with Down Syndrome
Most individuals with Down Syndrome have mild (IQ: 50–70) or moderate (IQ: 35–50) intellectual disability with some cases having severe (IQ: 20–35) difficulties. As they age, people with Down Syndrome typically perform less well compared with their same age peers. This syndrome causes about a third of cases of intellectual disability.
It must, however, be noted that the severity of the disabilities varies from one individual to another. Therefore, many people born with Down Syndrome are capable of achieving a reasonable quality of life if given the proper care and support. In many ways, the extended family system practised in Ghana is important, as both the parents and the affected child need all the support they can get.
They require special learning environments that will cater for their special needs.
The writer is a medical officer at New Crystal Health Services