Every living thing has genetic composition that must be complete in numbers and in structure for proper functioning and compatibility with life.
Humans may be born with genetic abnormalities, some which may not allow the child to continue living or cause serious defects immediately after birth or later in life.
Many of these genetic abnormalities are major reasons for spontaneous miscarriage in early pregnancy. An example of these genetic abnormalities include: Down syndrome.
What is down syndrome?
Every human being is born with 23 pairs of chromosomes (genetic materials) amounting to 46 in numbers. It becomes an abnormality if any of these chromosomes are either in excess or in shortage of numbers and structure.
The case of down syndrome is that of an abnormal number of chromosome number 21, hence it is also called Trisomy 21. This singular problem is the cause of their looks, behavior and characteristics.
Although people with down syndrome look alike globally, they are each different from one another with varying degrees of symptoms and characteristics depending on how serious the Trisomy is.
How common is this condition?
According to the Centre for Disease Control, Down syndrome continues to be the most common chromosomal disorder. Each year, about 6,000 babies are born with Down syndrome, which is about 1 in every 700 babies born.
Between 1979 and 2003, the number of babies born with Down syndrome increased by about 30%. Older mothers are more likely to have a baby affected by Down syndrome than younger mothers. In other words, the prevalence of Down syndrome increases as the mother’s age increases.
It is recognized as a major cause of mental handicap in school children. Down syndrome has actually increased in the world’s population in recent time due to increased life span and low death rate globally.
Causes Of down syndrome.
During the formation of sex cell that gives rise to down syndrome, cells division occurs and each chromosome (genetic materials) are supposed to divide and be totally separated with each side being a part of different sister cells.
Distortion in this cell division such that the chromosome that should separate failed to separate and then joined with another single chromosome from another cell during fertilization to make 3 chromosomes instead of 2; one from each parents, we now have 3; 2 from a parent (that refused to be separated) and 1 from the other parent.
There has been no particular cause of this condition but it has been attached to increase Maternal age. The risk increases more in women above the age of 35yrs. Down syndrome is purely a chromosomal abnormality.
There’s 1% risk of having another Down Syndrome child in a woman with previous history of down syndrome.
Signs and Symptoms of Down Syndrome.
- Intellectual disabilities
- Round moon face
- More spaces between 2 eyes.
- Single line on the palm
- Big tongue
- Smaller mouth and jaw
- Short stature
- Small neck
- Small ear
- Flat nose.
These depend on how severe the condition and they are different in each down syndrome child. They will be worse in children with complete lack of separation of chromosomes than those with partial separation.
Other signs and symptoms have to do with whether they have other conditions as having to do with their body organs. Children with down syndrome are likely to have other health conditions at birth. This will give rise to some of these symptoms.
- Drooling saliva at birth
- Vomiting at birth
- Low birth weight
- Heart abnormalities
- Hole in the heart
- No stool passage after 24hrs of birth
These are not exclusive to only down syndrome but they are the symptoms of the diseases common to down syndrome at birth.
Treatment of down syndrome.
There’s no particular treatment or medication for down syndrome as it is purely genetically. It can however be managed and the children can be able to develop their talents through various physical and mental support.
Taking the child to special school where he or she will be given deserving attention is another means.
The fact that down syndrome usually comes with other diseases means the treatment will also cover these diseases to ensure that they will not incapacitate the life of the patient.
Vocational and craft training will be very useful so a Down syndrome patient can have a source of livelihood.
Joining a support group for down syndrome will be very helpful to parents and the patient.
Prevention of Down Syndrome.
It can be prevented by
- Prenatal diagnosis. Down Syndrome can be detected in pregnancy before birth and the obstetrician will guide further.
- Avoidance of advanced Maternal age. Risk is lesser in women giving birth at less than 35yrs. Instead of the normal 1 in 800 live births, it is 1 in 270 live births in women of 35yrs and above.
- Genetic counselling before marriage and raising a family
In conclusion, Down Syndrome is the commonest autosomal abnormality and can be prevented and managed.