The right to be different: about 120 boys are born each year with Down syndrome in Argentina

Down syndrome is a genetic alteration, it is not a disease. To promote integration, specialists from the Argentine Society of Pediatrics (SAP) urged information with the aim of promoting inclusion and respecting differences and the right of people with this condition to be different, on the occasion of World Day of the syndrome of Down, which is commemorated every March 21.

“World Day is always a good opportunity to emphasize that early accompaniment and stimulation are determinants of a good evolution throughout life. They are boys and girls like any other, but they are not eternally children. They are babies, then children, adolescents, young people and then adults with Down syndrome and at all stages they deserve inclusion and equal treatment,” said Dr. Fernando Burgos, a pediatrician specializing in the treatment of children with Down syndrome and member of the Media Subcommittee and Communication from the Argentine Society of Pediatrics.

According to the National Registry of Congenital Anomalies (RENAC), approximately 120 children are born each year in Argentina with Down syndrome, which arises from a prevalence of 17.26 per 10,000 births, representing a population of approximately 5,000 individuals throughout the country.

The cells of the human body have 46 chromosomes distributed in 23 pairs. People with Down syndrome have three chromosomes in pair 21 instead of both, as usual, so it is also known as 'trisomy 21'. Chromosomes are the structures that contain DNA, which is the main constituent of the genetic material of living things or a part of it.

Although there is no single cause, risk factors that increase the likelihood of its development include the mother's advanced age, that parents carry the genetic translocation that triggers it and having previously had a child with Down syndrome.

“It is the most common genetic disorder in humans; it usually affects brain and body development and is the main cause of intellectual disability; it can also cause medical problems, such as digestive disorders or heart disease,” said Dr. Burgos.

People with Down syndrome are more at risk of developing certain diseases and health problems than people without Down syndrome. Many of these associated diseases may require immediate care at birth, occasional treatment during childhood and adolescence, and long-term lifelong treatment. Therefore, it is important to maintain regular checks with the pediatrician, who will evaluate each situation and handle the different interconsultations that correspond, referring it, working as a team with the specialist that corresponds in each case, such as visual, developmental, nutritional checks, among others, such as to make a monitoring and improving the health and quality of life of the patient and his family.

Depending on each particular case, they participate in the medical care of a child with Down syndrome under the coordination of the attending pediatrician, a group of health professionals that includes the psychologist, neurologist, endocrinologist, cardiologist, kinesiologist, special educators, speech therapist, occupational therapist, physical therapist and social workers.

“The most important thing is the child's bond with the family, for which the figure of the psychologist stands out, who will have the task of collaborating to structure that good bond. Understanding by family not only its closest group, consisting of parents and siblings, but also its extended family, with grandparents, uncles and cousins. A good bond between the child and their environment promotes their maturative development, which is what will allow them to better interact and integrate with their environment,” said Dr. Manuel Maza, pediatrician and pediatric neurologist, member of the Disability Committee of the Argentine Society of Pediatrics.

At the time of adolescence, it is necessary to evaluate and accompany the child in the face of the changes typical of this stage of life, changes that have to do with hormones, attitudes and emotional development; at this stage, more than ever, the importance of schooling and socialization is emphasized.

“Children, adolescents and adults with Down syndrome also need the same routine medical care as everyone else, from vaccinations that all children receive to reproductive health counseling and adult cardiovascular care. Like everyone else, they will benefit from regular physical activity, healthy eating and having an active social life,” said Dr. Angela Nakab, a specialist in pediatrics and adolescents, also a member of the SAP Media and Communication Subcommittee.

In order to diagnose the presence or not of chromosomal alteration in the fetus during the prenatal period, there is a study called 'chorionic biopsy or amniocentesis', which consists of obtaining a sample of the placenta or amniotic fluid through a puncture on the mother's belly. It is the only way to reliably know whether or not the fetus is affected by a chromosomal disease. These tests are not risk-free, so they are only recommended in women with a greater than 1 out of 100 probability of having a child with this genetic abnormality.

“Knowing if your baby has a trisomy can be beneficial for both parents and the child, as it allows you to plan personalized and multidisciplinary care. In some cases, it makes it possible to decide the best place and time for birth. It also helps the family and doctors prepare for the arrival of that baby,” said Dr. Maza.

In order to know when these invasive biopsies should be considered, a test called combined screening is first offered, which includes a blood test between weeks 9 and 13 of pregnancy to determine the blood concentration of two hormones produced by the placenta ( PAPP-A and free beta-hCG), a specialized ultrasound scan between weeks 11 and 13 to analyze in detail the baby's early anatomy, which analyzes some characteristic markers, and - finally - a computerized analysis that tabulates all the data obtained and calculates the probability of the baby's risk of developing Down syndrome.

Generally, based on this' pre-diagnosis', which is reached through specially developed computerized software, 9 out of 10 patients will receive a risk assessment of less than 1 in a thousand cases, a group considered to be low-risk, which will allow avoiding additional genetic studies.

“For those confirmed cases, or after birth with a diagnosis of Down syndrome, we usually recommend couples to make contact with other parents who have experienced this experience, for which it is very positive that they give themselves the opportunity to visit the association of Down syndrome patients closest to their where they will answer their questions and learn more about those who live with this condition and how they relate to their relatives. It is very enriching to know other experiences and to see how the relationship between the child and the family flows, a situation that we see daily in our clinics. They are loving and absolutely noble children. According to the protagonists themselves, it is a love that is difficult to explain in words”, concluded Dr. Burgos.

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