Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21
It is a painful thing for a child’s right to life to be decided ever before his arrival on earth.
This, of course, is the plight of children with Down syndrome ailment.
Available statistics show that the estimated incidence of Down syndrome is between 1 in 1,000 to 1 in 1,100 live births worldwide. The origin of Down syndrome can be traced to John Langdon Down, an English physician that first described the external appearance of the genetic condition, which he classified in 1862. It was later to bear his name, “Down”.
He also referred to it as Mongolism and the people with the disease are known as Mongoloids.
In Nigeria's case, it has been discovered that the disease is prevalent because of the increasing maternal age at which more women in Nigeria now conceive. This follows the increasing strong desire to complete formal education before conception and the rising incidence of infertility. But this claim has been faulted, as it has recently been observed that 80% of children with Down syndrome are born to mothers under the age of 35.
Scientifically, Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21, referred to as Trisomy 21, which remains the most common form of Down syndrome. Therefore, individuals with this type of Down syndrome have 47 chromosomes instead of the usual 46. This is caused by an error in cell division called non-disjunction, which leaves a sperm or egg cell with an extra copy of chromosome 21 before or at conception.
Trisomy 21 accounts for 95% of Down syndrome cases, with 88% originating from non-disjunction of the mother’s egg cell. This additional genetic material alters the course of development and causes the characteristics associated with the disorder.
Usually, it is always difficult to differentiate people with Down syndrome if a large number of them converge in the same venue due to the physical characteristics they share.
The remaining 5% of Down syndrome cases are due to conditions called mosaicism and translocation. Mosaic Down syndrome results when some cells in the body are normal while others have Trisomy 21. Robertsonian translocation occurs when part of chromosome 21 breaks off during cell division and attaches to another chromosome (usually chromosome 14). The presence of this extra part of chromosome 21 causes some Down syndrome characteristics.
Although a person with a translocation may appear physically normal, he or she has a greater risk of producing a child with an extra 21st chromosome. Down syndrome is not linked to race, nationality, religion and social or economic status.
In addition to other traits unique to individuals with this disorder, a few of the common traits are low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the centre of the palm. In essence, it causes delays in physical and intellectual development.
It is important to note that people with Down syndrome may possess these characteristics to different degrees according to the form as mentioned earlier.
In order to ascertain the possibility of giving birth to babies with Down syndrome, during the pre-natal period, two types of procedures are available to pregnant women: screening tests and diagnostic tests. The screening tests estimate the risk of the baby having Down syndrome while the Diagnostic tests tell whether or not the baby actually has Down syndrome.
The most commonly used screening test is “The Triple Screen”, a combination of three tests that measure quantities of various substances in the blood. These tests are carried out between 15 and 20 weeks of gestation. In conjunction with other screenings, sonogram, a form of ultrasound is performed to show some physical traits that are helpful in calculating the risk of Down syndrome.
However, it is usually identified at birth or shortly thereafter by conducting a Karyotype test, a chromosome study which provides a visual display of the chromosomes grouped by their size, number and shape is used to determine if a child has the disorder or otherwise. This is carried out through the examination of blood or tissue cells of the baby.
The aforementioned Physical characteristics commonly seen in babies with this disorder are also used in the diagnosis after the birth of the baby.
Aside from both children and adults with Down syndrome experiencing developmental delays and mild to moderate impairments, many children with Down syndrome have health complications beyond the usual childhood illnesses. Approximately 40% of the children have congenital heart defects; therefore, it is very important that an echocardiogram be performed on all newborns with Down syndrome in order to identify any serious cardiac problems that might be present.
While some of the heart conditions require surgery, others only require careful monitoring. Children with Down syndrome have a higher incidence of infection, respiratory, vision and hearing problems as well as thyroid and other medical conditions.
Caring for people with Down syndrome can be frustrating and fraught with challenges as most of them permanently depend on others to lead their lives. And it is not uncommon for people in their immediate environment to exhibit negative attitudes in form of discrimination and exclusion towards them.
Consequently, children and adults with Down syndrome cannot integrate successfully with their peers. But it should be noted that they also have many talents and gifts and should be given the opportunity and encouragement to develop them.
Therefore, in order to tap into the full potential inherent in victims of Down syndrome, early intervention services should be provided shortly after birth. These services should include physical, speech and developmental therapies.
While most children attend their neighborhood schools, some in regular classes and others in special education classes, some children with the disease have more significant needs and require a more specialized programme.
Some high school graduates with Down syndrome participate in post-secondary education and many adults with Down syndrome are capable of working in the community, but some require a more structured environment.
To overcome the health challenges being faced by these special people, appropriate medical care should be provided for them to lead healthy lives. If given adequate care, the average life expectancy of individuals with Down syndrome is 55 years, with many living into their sixties and seventies.
Government, individuals and non-governmental organizations should rally support for parents and people with this disorder in order to properly integrate them into their respective communities and for them to enjoy full and equal rights, both as children and adults.