Index
Down syndrome is the result of a genetic change that occurs in about 1 case in every 700 babies that are born. Studies are still unable to state the exact reason, but indicate that the vast majority of cases are related to the mother’s advanced age. Although science points out that this extra chromosome can come from both father and mother at conception.
What is Down Syndrome
Down syndrome consists of an error in the process of conception and the division and multiplication of embryo cells. Each human being has 46 chromosomes where the genes are found, and when this chromosomal alteration occurs, the individual will have 47 chromosomes, including the pair 21 or trisomy 21.
As well as the genetic variety in the population, there are types of down syndrome that are divided into three denominations, being:
Free trisomy – The most common type of down syndrome, free trisomy affects 92% of the cases of children with the disorder. In this type, the extra chromosome 21 is present in all cells and gives rise to an abnormal egg or sperm that does not allow junction during meiosis. Throughout the embryo’s development this additional chromosome will remain close to all cells.
Mosaicism – Already a rarer type of the syndrome, affects about 2 to 4% of children. In this case the cells are between 46 and 47 chromosomes, being varied. Studies indicate that the embryo may have been fertilized with the appropriate number of chromosomes, but during cell division some cells acquired the extra chromosome 21, and this individual may have milder symptoms than the conventional one.
Translocation – Also very rare, translocation occurs in an average of 3 to 4% of cases. In this case, all cells carrying 46 chromosomes, but part of it may detach or translocate to another chromosome, which may occur before conception or during. The individual is left with two normal 21 chromosomes and a third adhered to another chromosome, which will result in the symptoms and characteristics of the down syndrome.
Down Syndrome Characteristics
Children born with down syndrome have very specific characteristics , but they can be differentiated from one baby to another, and each case is different. Some may be born underweight and reach the appropriate weight as they grow.
Other cases are born with less toned muscles than the common, and will grow stronger as they grow. The skin has a greater flaccidity than usual for babies, especially in the neck and neck.
Development
The growth of a child with down should be accompanied by a pediatrician or specialist and compared to the growth and development table for children with down syndrome.
Another very common feature in children with down syndrome is the eyes , which have the shape pulled up and with an extra fold in the eyelid that does not alter your vision at all. The shape of your head is usually flatter and your ears tend to be lower than normal.
They have more difficulty in learning , with some cases being more pronounced than others, and it is not possible to know what the degree will be at birth.
The characteristics are presented throughout its development. Children with down crawl, walk, talk, play, read and write like any other child except that they can take longer than the conventional one, each one having their own time.
Health problems
Regarding health problems, children with Down syndrome usually have more respiratory infections than normal, they may, moreover, have a lot of difficulty in breastfeeding in the first days of life and have difficulty sucking and swallowing.
Another very common problem in these children is that of a heart problem, with 1 in 3 children with the syndrome. The heart problem can be a simple murmur, as in some more complex cases of even malformation that requires surgery for repair.
Characteristics such as short stature, obesity, diabetes and hypothyroidism are other conditions quite common in children with down. Currently, large institutions offer assistance with professionals better prepared to deal with these children, offering better care and monitoring for the physical, mental and motor development of each one of them.
Due to this great evolution, today with the support of the government, more and more adolescents and adults with down syndrome are integrated into the job market, giving each of them the chance to have a dignified, respectful life as every human being should have.
See also: My Childbirth Experience and Down Syndrome – Ana Cristina
My name is Dr. Alexis Hart I am 38 years old, I am the mother of 3 beautiful children! Different ages, different phases 16 years, 12 years and 7 years. In love with motherhood since always, I found it difficult to make my dreams come true, and also some more after I was already a mother.
Since I imagined myself as a mother, in my thoughts everything seemed to be much easier and simpler than it really was, I expected to get pregnant as soon as I wished, but it wasn’t that simple. The first pregnancy was smooth, but my daughter’s birth was very troubled. Joana was born in 2002 with a weight of 2930kg and 45cm, from a very peaceful cesarean delivery but she had already been born with congenital pneumonia due to a broken bag not treated with antibiotics even before delivery.
