Down’s syndrome is a congenital condition that causes an individual to have an extra chromosome 21. This condition is also called trisomy 21 where the person has 47 chromosomes instead of 46; so having three copies of chromosome 21 instead of two causes Down’s syndrome. Down’s syndrome affects 1 in 800 child births worldwide.
People with Down’s syndrome have characteristic facial features that can make them resemble each other while simultaneously resembling their own family members. They tend to have almond shaped eyes, a flatter nose, small ears and a somewhat protruding tongue. Overall children with Down’s syndrome have flatter facial features.
Besides the physical features, individuals with Down’s syndrome also are at higher risk for certain medical conditions such as poor muscle tone or hypotonia, vision problems, and heart defects ranging from mild to severe. Hearing loss is seen in half of all Indian children born with Down’s syndrome. These conditions can be accompanied with a variable degree of mental retardation.
Causes of Down’s syndrome
The trisomy of chromosome 21 that occurs in Down’s syndrome is rarely inherited. It is mostly caused by a misstep in cell division during the development of the egg, sperm or embryo. Importantly, there are no known environmental or behavioral factors that cause Down’s syndrome.
Screening for Down’s syndrome
It used to be that Down’s syndrome was diagnosed only after birth, but the last 20 years have seen tremendous strides in ultrasound technology and blood testing which can prompt the doctor to recommend diagnostic testing to confirm any findings. Ultrasound and maternal serum testing are considered screening tests versus diagnostic testing that is performed only if suspicions of Down’s syndrome arise. Diagnostic testing may also be performed if you have a family history of the condition or already have a child diagnosed with it. Some physicians require that their patients have extensive testing if they are over the age of 35, as older women are more likely to conceive children with Down’s syndrome.
Diagnosis cannot be made based on screening alone; for this reason diagnostic tests that involve invasive procedures such as chorionic villus sampling or amniocentesis are recommended depending on what stage the pregnancy is in.
Treatment for individuals with Down’s syndrome
While there are many treatments for Down’s syndrome, the condition cannot be cured per say. However, it is important to note that there are many therapies ranging from medical, physical and cognitive that can help an individual live a full and happy life with Down’s syndrome. The aim of a specialist treating an individual with Down’s syndrome is managing the medical conditions that come with it along with providing cognitive therapies that can help the individual function productively in the world around him.
Coping with the emotional and physical demands of providing care for a child with Down’s syndrome can be overwhelming at times. For this reason, it is important to set up a strong support system that can help the caregiver deal with the everyday challenges of what this condition may bring. Above all, it must begin with taking care of yourself as you cannot be of any help to anyone if you do not begin there.
You can find more information on Down’s Syndrome here (external site)