What is Down Syndrome? Symptoms, Causes and Treatment


Down Syndrome is a medical condition in which a person is born with an extra chromosome. This extra chromosome can result in intellectual disabilities in some people and physical health issues such as heart disease, gastrointestinal diseases, eye diseases, thyroid disorders, and skeletal disorders.What is down syndrome?

The symptoms of Down Syndrome are not uniform but, they range between mild to severe. In most cases, Down Syndrome affects brain development. Physical development can also be a lot slower in Down Syndrome.

Physical Characteristics

There are certain physical characteristics attached to Down Syndrome, which more or less can help in identifying a person with Down Syndrome. These include

  • A flat face with eyes slanting upwards.
  • Neck is shorter, ears are small with a large tongue.
  • Little white spots in the iris.
  • Hands and feet are small.
  • No distinguishable lines on the palm, except for a small crease.
  • Fingers are very small, almost resembling pinkies often curved towards the thumb.
  • Ligaments are loose with muscles lacking strength.

Though physical appearances can give away whether or not a child has Down syndrome, ultimately, a diagnostic test namely Karyotype is required to be done. Early detection of Down syndrome can increase the chances of treating it more effectively. With improvements in sonography, Down syndrome can be detected during the early stages of pregnancy. As the foetus is still developing, there are chances of false positive. So, further diagnosis in the later stages of pregnancy is required to be fully assured.

Number of cases of Down Syndrome

The Centre of Disease Control and Prevention or CDC has number of Down Syndrome standing at 1 in 695 in the United States. In other words, more than 400,000 people are suffering from Down Syndrome and 6000 people are born with this defect every year.

Physical issues that people with Down Syndrome might face

Unlike the physical characteristics which might give a clue about whether or not a person is suffering from Down Syndrome, the physical issues or problems can differ from person to person. They can include

  • Heart disease by birth
  • Gastrointestinal issues such as blocked intestines,
  • Celiac disease, a digestive disorder where damaged intestines do not absorb the nutrients from the food.
  • Memory problems, lack of concentration, judgemental problems, often together called as dementia.
  • Issues with hearing.
  • Eye sight problems, such as far-sightedness (hyperopia), short-sightedness (myopia), cataracts,
  • Issues with thyroid gland and
  • Skeletal problems
  • Alzheimer’s disease
  • Leukemia
  • Apart from these physical conditions, Down syndrome person can have intellectual disabilities that include lower to moderate level IQ, delayed language development and trouble with mental physical coordination.

What causes Down Syndrome?

Science now has answers about how Down Syndrome is caused. This cause starts during the first stages of foetus formation. During this stage, the egg from the mother and the sperm from the father give 23 chromosomes each, which add together to form the 46 chromosomes that humans are made up of. In Down Syndrome, the foetus gains an extra chromosome either from the mother or the father. Now the foetus has 47 chromosomes in each and every cell in the body. This extra chromosome in the cell is responsible for the physical characteristics, risk of physical problems and slow mental development.

A risk factor that has been identified with Down Syndrome is the age of the parents. As the age of the parents increases, the risk of developing Down Syndrome is higher in their offspring. The risk has been particularly true with mothers over the age of 35 years. This is due to the fact that as parents age, the risk of developing mutations in the genes and passing them to offspring is higher. Other factors such as ethnicity have also been identified partially. According to research, the risk of Down Syndrome is high in African-American community more than that of Caucasian community.

Apart from this, there are few other causes have been cited for Down syndrome. These include low folate consumption during early stages of pregnancy and smoking have been linked to Down syndrome, according to scientific literature.

Treatments available for Down Syndrome

Complete treatment for Down Syndrome is not possible at this point of time. Only partial treatments with regard to reducing the symptoms or connected diseases can be done but not complete cure.

Complete cure requires full knowledge of genes and genetic engineering which can not only cure Down Syndrome but also prevent it by introducing a repair mechanism in people that reduces genetic mutations completely.

But nevertheless, there are ways which can be employed for making a person with the condition lead a happy and independent life.

  • Good parenting can be considered as one of the basic criteria.
  • Education and support from organizations is the next best thing.
  • Support from family, siblings and friends is also very important.
  • Early intervention can also be very helpful.
  • Support from health care institutions with a supply of range of specialists might also be needed at times.

As there is no cure for Down Syndrome, the main focus is on controlling the symptoms such as heart diseases, gastrointestinal problems, memory problems, motor development, ear problems, thyroid problems, eye sight problems, etc that usually arise in Down syndrome.

  • Regular health checkups and screening are compulsory
  • Required medications
  • Surgical operations, if necessary
  • Apart from these, counselling and support are also necessary

As a child with Down syndrome exhibits mental retardation to a certain extent, it is mostly mild to moderate, ie., basic skills can be taught to them, but their learning would slow compared to others. Little patience from parents can be beneficial as many people with Down syndrome lead productive lives in the future. Early intervention can improve motor skills. Children with Down syndrome are very much prone to eye sight, hearing, gastrointestinal, thyroid, immune related and heart related problems. So, regular full body checkups are must.

Kids with Down syndrome have an equal right to join in regular schools and colleges. Many of them have completed formal educations and hold jobs. They are able to lead lives, as perfect as we do.

Today, science is progressing very quickly and hopefully, genetic research being conducted now and in the future, will be able to give solution to Down syndrome. Scientists hope to cure Down syndrome and possibly prevent it from attacking another child.