Down syndrome has always been part of the human condition, exists in all regions of the world, and usually has variable effects on learning styles, physical characteristics, or health.
Adequate access to health care, early intervention programs and inclusive education, as well as adequate research, are vital for the growth and development of the person.
In December 2011, the General Assembly designated March 21 as World Down Syndrome Day. With this celebration, the UN wants to raise public awareness of the issue and recall the inherent dignity, worth and valuable contributions of people with intellectual disabilities as promoters of the well-being and diversity of their communities. It also wants to highlight the importance of their individual autonomy and independence, in particular the freedom to make their own decisions.
What is Down syndrome?
Down syndrome is a genetic anomaly that occurs as a result of a failure at the time of conception. The normal number of chromosomes in humans is 46, distributed in 23 pairs, the last being the X and Y sex chromosomes. These chromosomes constitute the genetic information of the human being. The fertilized egg receives one chromosome from the mother and one chromosome from the father to make up each of the 23 pairs of chromosomes, but sometimes an anomaly occurs that consists of the appearance of an extra chromosome in the 21st pair, which is known as trisomy of chromosome 21. Trisomy of chromosome 21 is the most common chromosomal abnormality: it affects 1 in 700 children born alive in all races, regardless of geographic environment or social class. Trisomy 21 causes Down syndrome or mongolism, described by Dr. John Langdon Down in 1866.
In 95% of patients with this syndrome there is a trisomy of chromosome 21 (which means that there are three chromosomes number 21, when normally there are only two), and the remaining 5% present a chromosomal translocation (a change of fragments of genes between different chromosomes).
This genetic alteration causes the affected baby to be born with a variable degree of mental disability, characteristic physical features and some associated pathologies
The most important signs and symptoms of Down syndrome are:
- Marked muscular hypotonia (lack of strength in the muscles).
- Mental retardation.
- Characteristic physiognomy with epicanthal folds and palpebral opening slanting up and out (skin fold at the inner corner of the eye) and depressed nasal root.
- Maxillary and palatal hypoplasia that determines the protrusion of the tongue (the maxillary bone of the face is poorly formed and the mouth is small, so that the tongue does not fit in it and sticks out).
- Internal anomalies, mainly of the heart and digestive system: ventricular septal defects, patent ductus arteriosus, duodenal atresia or stenosis (narrowing or lack of development of part of the intestine).
- Short fingers with hypoplasia of the middle phalanx of the fifth finger (lack of development of the middle phalanx of the little finger).
- Characteristic dermatoglyphics with the ape-like groove on the palm (altered fingerprint with a transverse crease on the palm of the hand, similar to that of the monkey).
- From the psychological point of view, patients with this syndrome are cheerful, obedient, can have a musical sense and do not tend to violence. The marked hypersexuality of the patients is characteristic.
- From a biochemical point of view, patients have a high level of purines in their blood.
- Fertility is totally different in the two sexes: men with Down syndrome are sterile, while women are fertile. If a patient with Down syndrome has children, the chances of transmitting the disorder to their offspring are 50%, that is, about 50% of their children will be normal, while the other 50% will have Down syndrome due to infection. transmission of an excess chromosome 21.
Background: Understanding Down Syndrome
The estimated incidence of Down syndrome worldwide is between 1 in 1,000 and 1 in 1,100 newborns.
People with Down syndrome tend to have more health problems in general. However, social and medical advances have managed to improve the quality of life of people with the syndrome.
In the early 20th century, those affected were expected to live less than 10 years. Now, about 80% of adults who suffer from it are over the age of 50. Medical and parental work at an early age favors the quality of life and health of those who suffer from this genetic disorder by meeting their health needs, which include regular check-ups to monitor their physical and mental development, as well as timely intervention, since be it physical therapy, inclusive special education or other community-based support systems.
Interview with actor Pablo Pineda, the first student with Down syndrome to obtain a university degree in Europe.
World Down Syndrome Day 2022, whose theme refers to the meaning of the word inclusion, is a unique opportunity for the global Down syndrome community to:
Share ideas, experiences and knowledge.
Be strong in advocating and claiming equal rights for people with Down syndrome.