Down syndrome is the most common genetic disorder. Individuals with this syndrome experience various complications. They may undergo different physical and mental challenges compared to those without Down syndrome. With advancements in the medical field, individuals can have longer and healthier lives.
What is Down syndrome? What are the symptoms of Down syndrome and why does it occur? What are the types of Down syndrome and how is it treated? Let’s explore the answers to these questions together.
What is Down Syndrome?
Down syndrome is a genetic disorder inherited through genes. Individuals without Down syndrome have a total of 46 chromosomes. However, individuals with Down syndrome have 47 chromosomes. The extra chromosome is called Trisomy 21. This disorder is the most common chromosomal condition. The most common problems experienced by children with Down syndrome are learning difficulties and intellectual disabilities.
Down syndrome presents different symptoms from person to person. The severity of this disorder also varies in each individual. While it may be challenging for some individuals, others can adapt to life more easily. Generally, they may lag behind intellectually compared to the rest of society. Individuals may have lower levels of physical and mental development compared to their peers. They may also experience some problems in their digestive systems and internal organs.
Here, there are also some responsibilities for families. Barents should be knowledgeable about Down syndrome, its genetics, and development. They should support the development of individuals with Down syndrome by not depriving them of education.
Down Syndrome Symptoms
Individuals with Down syndrome have many common and different characteristics. This disorder, which varies from person to person, can be graded as mild-moderate-severe.
Common Physical Symptoms
- Slanted eye structure
- Short neck structure
- Flat facial structure
- Small hand and foot structure
- Weak muscle and joint structure
- Flat nose structure
- Simian creases in their hands
- Short stature throughout life
Common Mental and Behavioural Symptoms
- Unsustainable attention skills
- Learning difficulties
- Impulsive behaviour
- Difficulty in judgment
- Difficulty in speech skills
- Sleep problems
- Late acquisition of toilet training
- Late crawling and walking
- Stubborn and angry temperament
In addition to these symptoms, they are also observed to have difficulty in social skills.
Causes of Down Syndrome
Although the exact cause of Down syndrome is not yet determined, many factors trigger it.
Maternal Age
It is one of the most common problems. The likelihood of having a baby with Down syndrome increases if the mother is 35 years old or older, and the risk increases with age. They are twice as likely to have a baby with Down syndrome compared to a young mother. However, this does not mean that it will not be seen in young mothers. According to research, while the likelihood of a 35-year-old mother having a baby with Down syndrome is 1 in 350, it is 1 in 100 for a mother over 40.
Genetic
If someone in the child’s family has Down syndrome, the likelihood of having it increases.
These are common known causes. However, the mechanism of formation of Down syndrome has not been completely resolved.
Types of Down Syndrome
There are three types of Down syndrome: trisomy 21, translocation, and mosaic. This difference can be understood after genetic examination.
- Trisomy 21
It is the most common type in individuals with Down syndrome. There are 3 copies of the 21st chromosome in every cell of their bodies. - Translocation Down Syndrome
It is one of the rarer types. In this type, the extra 21st chromosome attaches to another chromosome, and that chromosome is not freely available. - Mosaic Down Syndrome
It is the least common type. As understood from its name, mosaic means mixture. While some cells in their bodies have 2 copies of the 21st chromosome, some have an extra 21st chromosome. They have common features with individuals of other types but show their symptoms more mildly.
Like all children, children with Down syndrome also have their own unique developments, abilities, personalities, thoughts, and social lives. They will have behaviours and habits they will acquire throughout their lives.
How is Down Syndrome Diagnosed?
Many individuals with Down syndrome receive this diagnosis during pregnancy. Screening and diagnostic tests are applied to the mother. In the screening test, the probability of the baby having a low or high degree of Down syndrome is examined. The thickness of the baby’s neck is also examined by ultrasound. However, the results are not definitive. There is also a possibility of giving wrong results.
One of the most commonly performed tests is dual tests. It is performed in the first three months of pregnancy. Blood is taken from the mother and her hormones are examined. The thickness of the baby’s neck is also examined. If the mother has these tests between the 16th and 18th weeks of pregnancy, she gets more accurate results. After the triple test, the quadruple test is performed. This test is performed in the 4th month. In addition, Inhibin A level is examined.
On the other hand, diagnostic tests are good at finding the probability of Down syndrome but are risky tests for the health of both the mother and the baby. It increases the likelihood of the mother having a miscarriage. They can be applied if confirmed by other tests.
How is Down Syndrome Treated?
There is currently no treatment that completely prevents Down syndrome. However, with many supports, both the individual and the family’s life can be made easier.
There are special education programs that start to be applied to babies at the age of two months. The baby can improve many of its skills to a better level. In later years, by continuing with special education, they can sustain their social, physical, and mental skills. Expectant mothers can also consult with an obstetrician and gynaecologist and undergo some tests if they are planning pregnancy after around the age of 35.
Having an individual with Down syndrome in the family brings many responsibilities. Individuals go through some emotional and physical problems. They need you to hold their hands throughout their lives. With your support, they can have a more functional life. Motor skills and some different abilities can develop. Sometimes there may be moments when they are stubborn or exhibit angry behaviour. You should try to remain patient and understanding as much as possible. During this process, you may feel psychologically affected as well as physically tired.
Just as you do not withhold support from the individual, you should not refrain from seeking support when you need it yourself as a Barent.
