Down syndrome or trisomy 21 is not a disease in the traditional sense. It is more likely to be considered a congenital chromosomal disorder or chromosomal abnormality. Unfortunately, Down syndrome cannot yet be prevented, nor can this “disease” be cured. Those affected and their relatives must learn to live with trisomy 21. Nevertheless, it is possible to help affected people to live their lives as naturally as possible.
What is Down syndrome (trisomy 21)?
Down syndrome or trisomy 21 is a defect in the genetic material that results in intellectual disability of varying degrees. Accordingly, intellectual abilities are limited, which is evident, for example, in the delay of language development and motor ability. Visually, people with Down syndrome are characterized by some features: They have a flat face, slanted eyes, small ears and broad hands with short fingers. This gave rise to the original name “mongoloid,” which is no longer used today. People with Down syndrome are shorter than average in height, with a tendency to be overweight after puberty. They are more susceptible to disease, especially affecting the airways and ears. Very many have a heart defect. Down syndrome thus presents a variety of problems.
Causes
The cause of Down syndrome is almost always the presence of chromosome 21 three times in the cells. People with Down syndrome usually have 47 chromosomes instead of 46. A distinction is made between Free Trisomy 21, which is the most common cause, Translocation Trisomy 21, and Mosaic Trisomy. Free trisomy 21 occurs when either the egg or the sperm has an extra chromosome number 21. Trisomy 21 occurs when the chromosome pair 21 is not separated when the egg or sperm cell is formed. There is no rule for this case, mostly chance is decisive. However, trisomy 21 becomes more likely as the mother’s age increases. In 40-year-old mothers, one child in 80 is affected. The younger the mother, the less likely Down syndrome becomes. The rare translocation trisomy is when only parts of chromosome 21 are triplicated. In this case, the additional chromosome part is attached to another chromosome. People who have such a chromosome material live without health restrictions. However, if they wish to have children, this shift of the genetic material can be transmitted and then leads to Down syndrome. The so-called mosaic trisomy leads to fewer restrictions for those affected. The reason is that these people have cells with normal chromosomal material as well as cells with 47 chromosomes.
Symptoms, complaints, and signs
Down syndrome is associated with a variety of physical and cognitive symptoms. In this case, the physical symptoms show up immediately after birth, but can also be detected as early as prenatal testing. Prenatally, features such as shortened femurs, a too-small head, heart defects, occasionally an intestinal obstruction, and the sandal furrow (distance between the big toe and the toe next to it) are already evident in a large number of affected individuals. The signs and symptoms of Down syndrome are numerous and varied. Typical features are usually small ears and a flat face, broad hands and short fingers, short stature and overweight with onset of puberty. In addition, many affected individuals suffer from muscle weakness, thyroid dysfunction, vision problems and hearing loss. Postnatally, a third fontanel is often observed. In addition, the eyes have a skin fold in the inner corners of the eyes and are slightly almond-shaped. Muscle tone in individuals with Down syndrome is usually lower, which can lead to a less mobile tongue, nasal breathing and sucking problems. The mental and motor development of affected individuals is impaired, although to varying degrees. Intellectually, the degree of disability ranges from severe to barely present, depending on the support and the individual case. While people with Down syndrome can usually understand well what is said, their own ability to articulate is often limited. The ability to react is usually reduced, which is already clearly evident in the first years of life. Emotions can be expressed, but the expression itself is less controlled.Life expectancy is slightly reduced due to the numerous possible secondary complications. Nevertheless, the symptoms of Down syndrome do not necessarily mean helplessness. Rather, many affected persons master an everyday life that gets by with little assistance.
Course
People with Down syndrome usually have a number of congenital malformations, such as heart defects. In earlier times, this led to about three-quarters of those affected dying before puberty; up to 90 percent before the age of 25. The prognosis has now improved considerably. With individual treatment of the malformations and targeted support, it is possible to live beyond the age of 50 with Down syndrome. Especially for patients with a mosaic trisomy with a high proportion of healthy cells, the medical development is favorable. However, only the concomitant symptoms of Down syndrome can be treated.
When should you see a doctor?
Children with Down syndrome always need medical care and monitoring. Parents of children with trisomy 21 are best to seek remedial measures and psychological support early on. A visit to the doctor is also recommended for any uncertainties or questions about the disability. For this purpose, either the responsible physician or the emergency number of the nearest outpatient clinic can be contacted. The DS InfoCenter provides affected parents with further options for medical and psychological counseling. If unusual symptoms or complaints occur in connection with Down syndrome, a doctor should be consulted in any case. Parents who notice hearing problems or frequent gastrointestinal infections in their child, for example, should definitely have this clarified. If signs of hypothyroidism or a congenital heart defect are noticed, it is best to talk directly to the doctor in charge. In the event of joint complications such as knee or hip pain, sprains or fractures, the emergency medical service must be contacted. In later life Mitunter symptoms of Alzheimer’s dementia show up – then also talk to a doctor.
Treatment and therapy
Down syndrome itself is not curable or treatable, and more or less severe mental retardation cannot be reversed. However, it is possible to support affected individuals individually and give them the opportunity to develop personally. This happens, for example, in sheltered workshops, where skills are developed and existing talents are supported. Those affected learn a lot about “normal” life, for example, through manual activities and emotional attention, can develop motor and mental skills and practice social skills. A good family environment is also favorable for this. Medically, it is necessary to treat existing malformations (heart, digestion, etc.). Under favorable conditions, it is possible for people with Down syndrome to live almost independently.
Prospect and prognosis
As a congenital genetic disorder, Down syndrome cannot improve or be cured on its own. The mental development of the affected person will progress, but a person with Down syndrome will never be able to reach the level intellectually of a peer without trisomy 21 or develop equal abilities. The physical abnormalities associated with Down syndrome will also accompany the affected person throughout his or her life. This does not mean that people with Down syndrome cannot develop intellectually at all. With targeted mental and physical support adapted to them, they can also develop according to their abilities and possibilities, learn skills, gain experience and learn to express emotions and integrate into a disability-friendly everyday life. Many people with Down syndrome take jobs in adulthood that are within their capabilities, some form partnerships, and many make valuable friendships. Of course, the prospects for the development of a person with Down syndrome depend greatly on the support that the environment can provide. Parents who learn how to interact with a child with Down syndrome early on can have a massively beneficial effect on their child’s development. Even in later adulthood, people with trisomy 21 need regular expert support for their abilities and must practice and train them regularly just like a healthy person.
You can do it yourself
In addition to therapy methods that curb the negative effects of trisomy 21 on the body of those affected, there is a wide range of options for those affected to improve their daily lives. This includes, in particular, their social environment. For example, in early developmental years, it is important to provide children with Down syndrome with adequate access to all the opportunities that their peers have. Some tasks may need to be accomplished with assistance. Regular practice of language games and lip exercises (blowing soap bubbles, etc.) provides a small advantage in later language development. Fine motor handicraft tasks with both hands promote a sense of causal relationships and practice motor skills. Movement games to promote gross motor skills should be done with affected individuals. In later years, tasks become more relevant. People with trisomy 21 also want to contribute to society. They also grow up and develop interests and can learn things. Taking them seriously here and accompanying them helps them to stand in life with a good feeling. People with Down syndrome are mostly aware of their limitations. Communicating one’s own possibilities and the things the affected person would like to tackle should definitely be done with the environment. In this way, ways can often be created that lead to success. Otherwise, it is also necessary for the well-being of affected persons that they are treated like all other people outside of nursing and care measures.
