Many people have already heard of Down syndrome but not everyone knows what it truly entails. Similar to several diseases that affect the brain, the condition can lead to a lot of disabilities that might hinder the ability of the person to work or perform different tasks. The onset will also differ among individuals. Some might experience minor symptoms while others have to deal with the effects of the disease in more severe forms. It’s important to consider all the possible options for treatment as well as help the person cope properly 01 .
About Down Syndrome
Down syndrome is also referred to by physicians as Trisomy 21 which is a genetic problem that happens in about 0.5% to 1% of the population. It ranks number one when it comes to brain diseases that lead to cognitive disabilities. People diagnosed with the condition will find it difficult to learn a variety of tasks and skills. The individual will also experience delays when it comes to reaching developmental milestones 02 , 03 .
As early as in a person’s infant stage, the condition can already be detected. Other conditions might also arise or the disease might be concurrent with other underlying problems like Alzheimer’s disease that occurs earlier in life, leukemia and heart problems. Affected individuals will also present other health problems so treatment will be more complicated.
History of Down Syndrome
Down syndrome was first discovered by Dr. Langdown Down in 1866. The condition was also named after the physician who described many of the characteristics. Some things were still left undiscovered such as the main causes and risks of the condition. In 1959, more experts studied the disorder then found out that genetics had a major role to play in the development of the condition just like other brain diseases. People diagnosed with Down syndrome used to have a shorter lifespan but new techniques and interventions have helped patients cope better through the years. Many patients today live beyond the age of 60 years old. Many factors will help the patient cope well such as his family and a healthy regimen 04, 05
Down Syndrome: About Chromosomes
Genetics have a lot to do with the way Down syndrome progresses among individuals. It was named Trisomy 21 because it affects chromosome 21 in particular. Genes among individuals affected by the condition are responsible for the different manifestations because extra copies of chromosome 21 are created. The normal human cell has 23 pairs of chromosomes. Every chromosome contains genes that are required for human beings to properly develop especially during conception 06, 07 . These chromosomes are acquired from both parents of the fetus. When an extra chromosome is acquired, chromosome 21 will come in three. Many people with the condition will have a full extra chromosome 21.
Some Down syndrome patients, however, do not get a full extra chromosome 21 although they still have extra genes of the chromosome 21. As a result, a wide array of symptoms will be presented by the patient ranging from mild to severe. Patients with Down syndrome may have a flattened face or nose, a small mouth, a protruding tongue, upward slanting eyes, small ears, tiny skin folds near the eyes and a short neck. Patients will usually have some resemblance to one another. The patient will also present poor muscle tone, short hands with short fingers, white spots on the iris, lack of height and difficulty in learning.
Diagnosing Down Syndrome
Some brain diseases can be detected early, even if the human being is still a fetus. Pregnant women should go for their regular checkup to ensure that their baby is free of Down syndrome. There are some indicators that the growing fetus might be affected by the condition such as irregularities in the physical structure and appearance. Some of the areas to check include the size of the renal pelvis, the length of the femur and humerus, the gap between the big and second to, presence of bright spots in the heart, the pelvic bone angle, bowel brightness and the little finger. Abnormalities in these structures will usually tell doctors whether or not the fetus is at risk for Down syndrome 08 .
Treating Down Syndrome
Like some brain diseases, Down syndrome has no known cure. The best way to treat or manage the condition would be to provide symptomatic or supportive treatment. As soon as the problem is diagnosed, parents should start planning with the doctor on the best approaches that will help their child cope with the learning disabilities. There are special schools and programs that will aid children so that they can still reach developmental milestones even if it takes longer. Children with Down syndrome are usually at risk for acquiring different health problems. The goal of parents is to make sure that their child will stay safe even with the presence of hearing or visual problems 09.
Family support and socialization efforts will also benefit the Down syndrome patient. The person should feel secure and confident about himself even if he understands the possible effects of the condition. Many individuals are actually able to live well and avoid several potential diseases by eating healthy and taking a number of supplements and medications that can boost the immune system.
Education for Down Syndrome Patients
Patient education is one of the best ways to help individuals cope with the negative effects of Down syndrome. If the person is aware of the risks and other potential effects, then he can also stay safe from the onset of other illnesses. Patients with the condition should take the preventive measures to avoid severe symptoms from developing. There are also therapies and programs that will aid patients in the proper management of the disorder. The family should offer help and support for these kinds of brain diseases 09 , 10 .
Have the Down syndrome patient go on regular checkups and indicate all the concerns and untoward effects and possible medication side effects to the doctor. Necessary adjustments can be made accordingly. Always encourage the patient and give him emotional support as well to continue on the daily tasks and regimen. Some patients are capable of performing tasks and working regular jobs.