Trisomy 21 Help for children with Down syndrome

Children with Down syndrome can often live relatively independently

05/03/2015

Trisomy 21, also referred to as Down Syndrome, describes a genetic mutation that manifests itself in children among other things in a delayed development. However, with targeted exercises, the little ones can grow into relatively independent personalities. Experts and stakeholders report in conversation with the news agency „dpa“ from her experience with children with Down syndrome.

To diagnose Down's syndrome before birth only by risky invasive procedure
Diagnosing Down syndrome is usually a shock to parents. Frequently, those affected only learn about their child's genetic defect after birth. Because during pregnancy, the current investigation methods can only give hints to a possibly existing trisomy 21. Only by amniocentesis (amniocentesis), chorionic villus sampling or rare Cordozentese (umbilical cord puncture) can be made a confirmed diagnosis. However, these examinations involve an invasive procedure, which is associated with a different level of risk for intervention-related abortions, which is why many parents decide against it.

The parents of little Ariel learned only three days after his birth, that the child is affected by the Genommutation. At the routine checkups during pregnancy, the doctors had found nothing that indicated trisomy 21. Further investigations were therefore not made. „We did not expect it at all, "says the boy's father, Marco Baré, the news agency, but the diagnosis did not make the world collapse. „He demands a full. But he is no different than other children. Only delayed development. "

Down syndrome is caused by a genetic mutation
In children with Down syndrome, a genetic mutation is responsible for an irregular distribution of chromosomes during cell division. Normally, the human cells contain 23 double chromosomes, so that there are 46 chromosomes in total. In trisomy 21, chromosome 21 is present in each body cell three times instead of just twice, so children with Down's syndrome have a total of 47 chromosomes. It is not a disease or hereditary genetic defect, explains Gerhard Hammersen, responsible doctor of the Down syndrome clinic at the Cnopf Children's Hospital Nuremberg, told the news agency.

When Ariel was born, he had a typical Down syndrome heart defect, which led the doctors on the right track. When he was five months old, his heart was operated on. Congenital heart disease occurs in approximately 40 percent of babies with Down syndrome. The degree of severity varies greatly. Typically, the children have a complex heart malformation with a common hole between both atria and ventricles (atrio-ventricular septal defect). „As a result, the children are significantly impaired in their development and performance in the first few months of life, some of them only have the power to breathe and drink. "Mostly one could help the little patient with an operation very well," said Hammersen.

Down syndrome causes developmental delays of varying severity
The extent to which children with Down syndrome are affected by the genetic mutation in their development does not become apparent until the first few years of life. Tests before birth can not determine the severity, emphasizes Elzbieta Szczebak of the German Down Syndrome InfoCenter in conversation with the news agency. The visible features of Down's syndrome, such as the tilted eyes, the rather broad face, the short nose and the characteristic changes in the hands, do not give any indication of the severity of the impairment.

Since most children affected by Trisomy 21 have weak muscle tension, it is advisable to begin physiotherapy as soon as possible. Because many babies even find it difficult to drink because their facial muscles are too limp. Physiotherapy can help children's overall development. At the same time, the exercises prevent the typical abnormalities of trisomy 21. „Accelerating motor development - for example, learning how to sit, crawl, stand, and run - is not the goal, "explains Hammersen. „Rather, it is about the children learning it properly and well. "The parents are also required, because the physiotherapy exercises should also be carried out daily at home.

As Ariel's father reports, the boy can walk for two years and is just beginning to speak.
„You have to listen carefully.“ So Dad was only Pa and car only Au. Ariel uses gestures-supported communication (GuK), Baré continues. Important terms are displayed with gestures.

Approaches such as the administration of medicines, vitamins, trace elements or the targeted, personalized nutritional supplementation (TNI) to reduce the effects of the Down syndrome have not been successful, so Hammersen. „All these measures have proved to be ineffective and could not positively influence the development of children. Ultimately, they are not helpful and can not be recommended. "

Do not underestimate children with Down syndrome
Most children with Down syndrome have a very open, friendly personality. It is easy for them to approach other people. „Ariel has no problem distancing himself from his parents, "says Baré, saying he is open to strangers and makes no distinction who his counterpart is. „In a four-year-old, many find that cute. But at 12:13, people will not find it funny anymore, "the father worries, so he tries to teach his son to be both close and to keep his distance.

Szczebak stresses that it is important not to underestimate children with Down syndrome. „Trusting you more is not wrong. On the contrary, "she explains," They should also be well integrated into the family and have contact with their peers, which will be very beneficial for their development, as they sometimes need time because parents are often overwhelmed with the situation, "Szczebak continues. Those affected could turn to self-help groups and visit early childhood care centers with their children. „You just have to be a father or a mother and become an expert yourself.“ (Ag)