Down Syndrome (Trisomy 21) – Causes, Symptoms & Therapy

Down-Syndrom (Trisomie 21)

Down syndrome is a congenital, but non-inheritable chromosomal abnormality. The most common form is trisomy 21 , with an extra chromosome on the 21st chromosome pair. This anomaly leads to mental and motor impairments in humans.

What is Down Syndrome?

Down syndrome, also known as trisomy 21, is a genetic disease caused by an error in the meiotic division in the 21st chromosome. The affected person has an additional 21st chromosome in every body cell and, accordingly, additional genetic material.

This chromosomal abnormality, which varies in severity, can lead to lifelong intellectual disabilities, developmental disabilities, learning disabilities, and health problems. With one in 700 births, Down syndrome is the most common congenital chromosomal disorder. A distinction is made between free, translocation, mosaic and partial trisomy 21.

causes

The cause of Down syndrome is a gene mutation of the 21st chromosome, which is triggered by an error in cell division and is therefore not a hereditary disease. There are three genetic forms that cause Down syndrome. Trisomy 21 is one of them and occurs in 95 percent of cases.Normally, the human cell has 23 pairs of chromosomes, i.e. 46 chromosomes. One chromosome of the pair is inherited from the mother and one from the father. However, those affected by Down syndrome, in the form of trisomy 21, have an extra chromosome in the 21st chromosome, which is therefore present three times instead of two, as is usually the case. There are therefore 47 chromosomes in total.

This disorder develops when chromosome 21 is not separated during cell division, i.e. meiosis, in the egg or sperm cells and an extra chromosome 21 is now contained in this germ cell. In 90 percent of cases, this happens in the mother’s egg. Advanced maternal age favors the development of Down syndrome.

symptoms and course

The severity of symptoms in a person with Down Syndrome varies, so they can be mild, mild or severe. Some people with Down syndrome have no health problems, but others develop serious heart disease .

Despite this fact, they share some characteristics. Very characteristic is the flat face and nose, a small head and mouth, as well as small ears, a short neck, a skin fold at the inner corner of the eye and broad, but small hands with a continuous palmar crease and short fingers. Although Down syndrome babies are born of normal height, they grow more slowly, spend twice as much time crawling as other babies, and reach an adult height that is below average.

In addition, individuals with Down syndrome have muscle weakness and thyroid dysfunction , are more likely to contract an infectious disease , have reduced intellectual capacity, and suffer from visual impairment and leukemia more often than healthy individuals .

Diagnose

There are various examination options that can diagnose Down syndrome (trisomy 21) during or after pregnancy . Since embryos with a trisomy 21 have a thicker neck, i.e. an increased neck density, than healthy embryos, the density can be examined with the help of an ultrasound examination . This prenatal examination is called a nuchal fold measurement.

Another method during pregnancy is the triple test, in which the mother’s blood values ​​are focused and examined for possible indications of a trisomy. In addition, a sample of the amniotic fluid or fetal blood can be taken and its cells examined for a chromosomal change at the 21st position. After birth, a chromosome analysis of the child’s body cells provides an indication of the existence of a third 21st chromosome and thus of Down syndrome.

treatment and therapy

Early treatment of infants and children with Down’s syndrome can improve their ability to learn and their quality of life, but the disease cannot be defeated in any case. Special institutions offer support programs with motor, sensory and cognitive activities. In this way, the child can learn motor and language skills, social skills and a certain degree of independence.

These therapies are carried out by trained and motivated speech therapists, ergotherapists and physiotherapists. Other institutions help people with Down syndrome to integrate into a professional environment and thus to feel needed and accepted in society. The empathetic support, integration and acceptance of one’s own family is also an important factor in the positive development of a person with Down syndrome.The right and beneficial environment for those affected increases their motivation and ability to learn. Unlike these therapy options to enhance the child’s development, the extra chromosome cannot be treated and eliminated. Only the accompanying symptoms of Down syndrome can be treated, such as heart disease, visual disturbances, or the increased incidence of infectious diseases.

prevention

There are no measures to prevent Down syndrome. However, pregnancy after the age of 35 increases the probability that one in 350 children will be born with trisomy 21. At the age of 40 even one in 100 children. Despite this fact, most sufferers of Down syndrome are born to women under the age of 35. However, prenatal diagnostics can confirm a genetic defect and help decide on further measures.

Dorothy Farrar

Hello and welcome to my Health Guide & Encyclopedia! My name is Dorothy Farrar, and I'm the founder and main author of this platform.
My passion for health and wellness started at a young age when I became interested in the connection between the food we eat and the way we feel. This fascination led me to study nutrition and dietetics in college, where I learned about the importance of a balanced diet and the impact of various nutrients on the body.

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