What are the risks of getting COVID-19 in people with Down syndrome

In December 2011, the United Nations General Assembly appointed March 21 as the World Down Syndrome Day raise awareness in society. This is a genetic alteration caused by the existence of additional genetic material on chromosome 21.

In the world, one in 1,000 people has Down’s syndrome. It is a good opportunity to remember the dignity of people with this genetic disease which includes, among other characteristics, intellectual disability or a higher incidence of heart disease.

Regarding this date, the doctor Fernando Burgos placeholder image, Coordinator of the Down Syndrome Clinic at Austral University Hospital, explained that “At the moment, there is no statistical information or relevant evidence on how the coronavirus affects people with Down syndrome or their vulnerability and, therefore, it is not advisable to be alarmed. .. However, these children may be at risk of developing most severe course of COVID-19 disease in healthy subjects due to the underlying pathology of cardiovascular and respiratory malformations, obesity and often a deficient immune response ”.

The specialist detailed: “People with Down syndrome who have uninvolved heart disease, chronic lung disease, or other complications such as hypertension or diabetes are more vulnerable to this disease“, But assured that” the elderly or people with respiratory problems are too. And he stressed that, for the moment, people with Down’s syndrome under the age of 18 are not included in the vaccination plans against the coronavirus.

The risk of developing severe forms of COVID-19 is higher in people over 60 and / or certain chronic diseases. “However,” said Dr. Burgos, “because people with Down syndrome age early, probably we should consider them at risk at a little earlier age“.

The dementia of Alzheimer’s disease is a common disease in older people with Down syndrome. Therefore, the specialist explained that be aware of behaviors related to dementia or old age. “People with Down syndrome and dementia may have difficulty understanding and learning hygiene and social distancing measures that prevent contagion, as well as communicating symptoms if they have any,” he said. -he explains.

And he stressed the importance that, in the case of children, “carry out the corresponding annual checks, continue with face-to-face or virtual integration therapies with the care and protocols that we know and that complement the vaccination schedule for immunopreventable diseases like all children ”.

According to the results of a study published by the journal Scientific reports, risk of death from COVID-19 is 10 times higher in people with Down syndrome.

This means that they are genetically susceptible to COVID-19, according to research by the Genome Regulation Center (CRG) from the government of Catalonia, Spain, which revealed the genetic factors that may expose or protect these people from infection with SARS-CoV-2, as well as their prognosis.

These findings reinforce the findings of previous independent studies that have shown a 10-fold risk of death from COVID-19 in people with Down syndrome. The study provides additional evidence to support existing demands for priority vaccination of this vulnerable group.

The research team analyzed all publicly available transcriptomic data on Down syndrome to uncover alterations that may be linked to SARS-CoV-2 infection and disease progression to COVID-19 .

TMPRSS2, a gene that encodes an enzyme essential to drive entry of SARS-CoV-2 into human cells, had 60% higher expression levels in people with Down syndrome. The gene is located on chromosome 21, of which people with Down syndrome have three copies.

The scientific team also discovered higher expression levels for CXCL10, a gene that triggers a series of events that lead to uncontrolled inflammation, which causes the immune system to attack its own lung cells.

This phenomenon, known as the cytokine storm, is one of the leading causes of hospitalization and death from COVID-19. The authors suggest that this may mean that people with Down syndrome are more likely to long-term complications, such as pulmonary fibrosis.

People with Down syndrome may also be bacterial infections after the illness has passed. The research team found that cells with Down’s syndrome express low levels of NLRP3, a gene fundamental for maintaining homeostasis against pathogenic infections.

However, the scientific team also found signs that people with Down syndrome have an extremely active response to interferon. This response is an innate first line defense that stops viral replication in cells.. Two of the genes linked to the interferon response, IFNAR1 and IFNAR2, are found on chromosome 21.

Another study recently published in the scientific journal Annals of Internal Medicine reported that people with Down syndrome affected by COVID-19 in the UK are five times more likely to be hospitalized and ten times more likely to die.

“This past research shows an association between Down syndrome and increased mortality from COVID-19. These studies have not shown a direct causal interpretation, but may inform policy and stimulate new research“Said the doctor Mara Dierssen, Head of the cell and systems neurobiology research group at the Center for Genomic Regulation (CRG) and author of the study.

“Together, we consider that people with Down’s syndrome over 40 or with significant comorbidities are very vulnerable from a medical point of view, both at the stage of infection and for the prognosis after having suffered cytokine storms”, he adds. Dierssen, former president of the Trisomy 21 Research Society. “It’s because of it people with Down syndrome urgently need to be included in priority vaccination groups against COVID-19 worldwide“.

According to Ilario de Toma, postdoctoral researcher at CRG and co-author of the study, “we need more research to study the transcriptomic alterations in lung tissue during different stages of infection, possibly stratified by age.”

The team will validate their results in future research, launching new studies using mouse models with Down’s syndrome to study the targets identified in this study. This can provide valuable information for boosting the immune response in people with Down syndrome and increasing the future effectiveness of any vaccination plan.

In this context, Dr. Valeria El Haj, OSPEDYC National Medical Director of Social Work, noted that “it is important to specify that Down syndrome is not a disease, but it is a genetic disease that can be associated with different pathologies – Cardiac, visual, auditory, muscular, among others. However, social and medical progress has made it possible to considerably improve the quality of life of those who are screened for it ”.

On the other hand, although it cannot be avoided, the fundamental work as health workers is early detection and counseling so that the family can access the necessary medical services in order to optimize the person’s quality of life.

“The family is the first and most important link for every human being, which is why Support and advice for them is essential so that they can relate properly, be able to put the person first then to the Syndrome, this is what will promote the development of their potential both in learning and in socialization. “Assured Dr. El Haj.

In order to deconstruct prejudices against people with Down’s syndrome and raise awareness World Down Syndrome Day promotes campaign to use different colored socks. The choice is because the stockings are chromosome shaped and different in color, hinting that we are different, but the same.

“The objective of this global campaign is to build together as a society a real, humanistic and inclusive vision of Down’s syndrome.El Haj added.

The early detection and professional support of families and individuals, as well as their integration into school and professional environments, make it possible to lead a full and harmonious life.

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