- Causes of Down Syndrome
- Main features
- How the diagnosis is made
- Down Syndrome Treatment
- How to avoid
Down syndrome, or trisomy 21, is a genetic disease caused by a mutation in chromosome 21 that causes the carrier not to have a pair, but a trio of chromosomes, and therefore in total it does not have 46 chromosomes, but 47.
This change in chromosome 21 causes the child to be born with specific characteristics, such as lower implantation of the ears, eyes pulled up and a large tongue, for example. As Down syndrome is the result of a genetic mutation, it has no cure, and there is no specific treatment for it. However, some treatments such as Physiotherapy, psychomotor stimulation and Speech Therapy are important to stimulate and assist in the development of the child with trisomy 21.
Causes of Down Syndrome
Down syndrome occurs due to a genetic mutation that causes an extra copy of part of chromosome 21 to happen. This mutation is not hereditary, that is, it does not pass from father to son and its appearance may be associated with the age of parents, but mainly from the mother, with a greater risk in women who became pregnant over 35 years of age.
Main features
Some of the characteristics of Down syndrome patients include:
- Implantation of the ears lower than normal; Large and heavy tongue; Oblique eyes, pulled upwards; Motor development delay, Muscle weakness, Presence of only 1 line on the palm, Mild or moderate mental retardation; Short stature.
Children with Down syndrome do not always have all these characteristics, and there may also be excess weight and delayed language development. Get to know other characteristics of the person with Down Syndrome.
It can also happen that some children have only one of these characteristics, not considering in these cases, that they have the disease.
How the diagnosis is made
The diagnosis of this syndrome is usually made during pregnancy, through the performance of some tests such as ultrasound, nuchal translucency, cordocentesis and amniocentesis, for example.
After birth, the syndrome's diagnosis can be confirmed by performing a blood test, in which a test is done to identify the presence of the extra chromosome. Understand how the Down Syndrome diagnosis is made.
In addition to Down's syndrome, there is also Down's syndrome with mosaic, in which only a small percentage of the child's cells are affected, thus there is a mixture of normal cells and cells with the mutation in the child's body.
Down Syndrome Treatment
Physiotherapy, psychomotor stimulation and speech therapy are essential to facilitate the speech and feeding of Down Syndrome patients because they help to improve the child's development and quality of life.
Babies with this syndrome must be monitored from birth and throughout life, so that their health status can be regularly assessed, because there are usually heart diseases related to the syndrome. In addition, it is also important to ensure that the child has a good social integration and studies in special schools, although it is possible that they attend regular school.
People with Down syndrome have a higher risk of having other illnesses such as:
- Heart problems; Respiratory disorders; Sleep apnea; Thyroid disorders.
In addition, the child must have some kind of learning disability, but he is not always mentally retarded and can develop, being able to study and even work, having a life expectancy of over 40 years, but they are usually dependent on care and need be monitored by the cardiologist and endocrinologist throughout life.
How to avoid
Down syndrome is a genetic disease and therefore cannot be prevented, however, getting pregnant before the age of 35, can be one of the ways to decrease the risk of having a baby with this syndrome. Boys with Down syndrome are sterile and therefore cannot have children, but girls can become pregnant normally and have a high chance of having children with Down syndrome.
