In later life, it becomes evident that the intelligence quotient (IQ) is often below that of the average child, and also the incidence of dementia is more common.
The life expectancy in this group of people is also significantly reduced.
"Whatever initial signs of Down's Syndrome that one should look out for. One of my close relatives has this condition and I just want to be sure my soon to be born child isn't a carrier"
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You have asked a question that could lead us in a direction we do not follow often in this column. The science behind Down Syndrome (DS) is rather complex and we stand the danger of losing some of the readers if we are not careful in the way we seek to give you a satisfactory answer. Sadly, this is the fate of teachers over all generations.
Let us start off by saying that DS is a condition that affects children and adults and is diagnosable at birth. In some specialist centres, the diagnosis can also be made before birth.
DS is due to the abnormality of one of the building blocks of cells called a chromosome. There are 46 such chromosomes in most people but in DS, an extra one is to be found leading to 47 chromosomes in the person with DS. Let me explain.
Soon after the sperm and egg meet in the womb, the two cells go into a time of cell division and it is during this early stage of rapid division that things tend to go wrong. In the case of Down’s Syndrome, chromosome number 23 is the culprit. Nobody knows why the division goes wrong in the way described above.
As we all know, the older the mother to be is, the more likely that an error will take place during this time of rapid change. For example, the rates of this condition in mothers under the age of 30 are low, while that of mothers after the age of 45 is much higher.
The child born with this condition is easy to tell right from birth. The typical physical features include the differently shaped ears and mouth. The hands have a characteristic crease, while the eyes have a typical slant.
There are other differences that include a wide space between the big and second toe as well as very flexible joints. There are other common differences in the heart and intestines that sometime call for surgical intervention.
Children with the condition are also more likely than others to develop various types of infections like pneumonia, as well as kidney and thyroid disease. There is often a delay in the development of the child with respect to the usual milestones of crawling and walking.
Speech development is also often delayed. In later life, it becomes evident that the intelligence quotient (IQ) is often below that of the average child, and also the incidence of dementia is more common. The life expectancy in this group of people is also significantly reduced.
Modern treatment methods including antibiotics have significantly improved the longevity of persons with this DS. Men with DS are generally infertile while, most women can have children, half of who will not have DS.
The medical interventions that are put in place will depend on the nature and severity of the condition.
For example, even if present at birth, some of the heart problems are mild and do not require any intervention as they heal by themselves. If severe, the deformity in the intestines can be so severe as to require emergency surgery in the newborn.
In other instances, the person may have seizures and require appropriate medicine for that, while those with a poorly functioning thyroid gland will require thyroid hormone replacement.
Other symptoms that require and also respond to timely intervention include the care for the rather weak muscles that sometimes interfere with walking. Difficulties with speech occasioned by the small mouth and large tongue can be effectively treated with speech therapy.
The place of expert intervention in the care of this group of people cannot be overstated and the earlier expert support is obtained, the better the outcome.
Coming back to your question, DS occurs in approximately one in 800 births, and is distributed across all regions and races of the world without choosing the rich from the poor, though it increases with the age of motherhood which varies somewhat from region to region.
Depending on the severity and the level of care given, people with the condition can go on to get a level of independence and even paid employment with some graduating from high school.
It must also be said that every human life matters and although it is now possible to diagnose the condition in pregnancy, there is no reason to terminate the life of a child so diagnosed. This is an important condition that is not often discussed and hence the low level of public information on the topic.
Dr Frank Njenga is a psychiatrist and mental health consultant. [email protected]