The Facts On Down Syndrome

John Langdon Down was a British doctor who was the first to fully describe a syndrome that would eventually bear his name. This was back in 1866 but even before that scientists and doctors had described some aspects of Down Syndrome as early as 1838. This affliction is not new, it has been around since time began and today it is the most common of the genetic abnormalities.

Down Syndrome is also called Trisomy 21 because it is a mutation on the 21st set of human chromosomes, usually an added portion on one strand or a whole strand unto itself. This is thought to happen when the 21st chromosome fails to separate from either the egg or the sperm cell so that cell now carries an extra copy on to the next phase of development. It is estimated that eighty eight percent of cases are caused by the egg failing to separate properly, while only eight percent happen on the sperm side of the equation. The other three percent happens sometime after the egg and sperm have merged.

Since chromosomes come in pairs, an added one anywhere is going to be detrimental in some way to the affected person. Down Syndrome happens in one out of every one thousand births and it is totally by chance that it occurs; there is no cure but it can be detected both during pregnancy and after birth quite easily.

Babies born with this syndrome have characteristic facial features, physical growth delays and intellectual disabilities. They usually have a small chin, slanted eyes, a big tongue, extra space between the first and second toe, flexible ligaments, a short neck and a flat, wide face. Their growth in terms of height is slower than that of an unaffected baby, and they may stutter or have rapid or irregular speech patterns. There is also an increased risk of hearing and vision disorders and lower fertility rates, however the chance of getting a cancerous tumor is lower as there are more tumor suppressor genes when a person has three chromosome 21.

While many women opt to have a termination when they hear that their baby is afflicted, others have their children who then grow up to be loving members of society. Some can hold down jobs and they are able to do most things that able bodied people can do. This syndrome does have its effects, but also shows us that differences should be embraced.

The Facts on Cerebral Palsy

Cerebral Palsy is defined as a group of permanent disorders of development, movement and posture. What this means is that an affected person may have difficulty with these things, although the degree may vary from individual to individual. For example, some people with Cerebral Palsy don’t have a lot of brain damage while others do. Some can’t sit or stand alone while others can, albeit with difficulty and some can get around with a cane or walker while others have to use a wheelchair.

This condition can occur either through abnormal development during a pregnancy where the parts of the brain that are responsible for movement and balance just don’t develop properly, or it can occur during childbirth for a variety of reasons, for example the baby’s oxygen could be compromised as he or she is being born. It can also occur shortly after birth for a variety of reasons. In three quarters of cases, however, the condition happens sometime during a pregnancy, leaving only a quarter of cases to happen during birth or shortly after.

People with Cerebral Palsy may have a smaller head than average, a smaller jawbone than others and also may have a spinal curvature that makes it difficult to stand and walk. Some may drool and speech and language problems are also common, possibly thanks to the smaller jawbone and/or cognitive problems associated with the condition. Intellectual disabilities are also common, as are deafness and blindness, depending on the severity of the case.

Other symptoms of the disorder are poor coordination, stiff and/or weak muscles and tremors. Some patients may also have swallowing problems and some babies with the disorder may not be able to suck properly which leads to a lot of trouble when it comes to feeding.

There are different surgeries that someone with Cerebral Palsy may go through in order to make their lives better, but there is no cure. The surgeries would be used to help the affected muscles work better and to cut nerves to the affected areas in order for them to be better used by the individual.

Physical therapy, speech therapy, occupational therapy and massage therapy are all things that are used to try to manipulate the muscles and limbs to function at a better rate than those without therapy. Keeping the muscles and joints moving will lower the rate of muscle atrophy and help keep the patient more comfortable.