By Bilkis Bakare
It is a painful thing for a child’s right to life to be decided ever before his arrival on earth. But this is the plight of children with Down syndrome.
Statistics show that the estimated incidence of Down syndrome is between one in 1,000 and one in 1,100 live births worldwide.
The origin of Down syndrome is traced to John Langdon Down, an English physician who 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.
Some posit that the disease is prevalent in Nigeria because of the increasing age at which more women conceive – because of their desire to complete formal education before conception and rising infertility.
But this claim has been faulted, as it has been observed that 80 per cent 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 per cent of Down syndrome cases, with 88 per cent 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 per cent 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, other 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.
People with Down syndrome may possess these characteristics to different degrees according to the form mentioned above.
During the pre-natal period, to ascertain the possibility of giving birth to babies with Down syndrome, two procedures are available to pregnant women: screening tests and diagnostic tests.
Screening tests estimate the risk of a baby having Down syndrome, diagnostic tests tell whether or not the baby actually has the disease.
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 help in calculating the risk of Down syndrome.
However, it is usually identified at birth or shortly after by conducting a Karyotype test, a chromosome study which provides a visual display of the chromosomes grouped by their size, number, and shape. It 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 birth.
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 per cent of such children have congenital heart defects; therefore, it is very important that an echocardiogram be performed on all newborns with Down syndrome 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 depend permanently on others to lead their lives.
And it is common 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 peers.
But they have talents and gifts and should be given the opportunity and encouragement to develop them.
To tap into the full potential in victims of Down syndrome, there should be early intervention shortly after birth. This should include physical, speech and developmental therapies.
Most children with the disease attend neighbourhood schools, some are in regular classes, and others in special education classes. But some have more significant needs and require a more specialised programme.
Some high school graduates with Down syndrome get post-secondary education and many such adults can work in the community, but some require a more structured environment.
To overcome the health challenges 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.
The government, individuals and non-governmental organisations should rally support for parents and people with this disorder in order to properly integrate them into their communities and for them to enjoy full and equal rights, both as children and adults.
• Bakare works in the features unit of the Lagos State Ministry of Information and Strategy, Alausa, Ikeja.