Sayak Banerjee, Amity University Kolkata
Down syndrome (DS), also known as trisomy 21 is the most persistent aneuploidy characterized by a genetic disorder caused due to the triplication of the 21st human chromosome. This syndrome is particularly associated with the development of congenital heart disease, sleep apnoea, obesity, diabetes, premature ageing, and higher sensitivity to upper respiratory tract infections. Each of these is probable to make people with DS, more susceptible to severe SARS-CoV-2, which has left no country unaffected. Due to their dysregulation of the immune system, consequences like cytokine storm may arise which can lead to acute respiratory distress syndrome (ARDS) and cardiac anomalies.
To study the disease characteristics in these patients, the researchers enlisted hospitalized patients admitted at Mount Sinai and Columbia University health systems with a diagnosis of COVID-19 who already had a DS diagnosis in their medical record. They were compared to a control group consisting of five patients without DS, hospitalized with COVID-19. The control group had the usual conditions of hypertension, type 2 diabetes mellitus, and lung disease. On a contrary, the DS group predominated with the co-occurring conditions of not only hypothyroidism and diabetes, but also neurological disorders of dementia and epilepsy.
Hypothyroidism and dementia were notably higher in the DS rather than the control group, out of which an escalated COVID-19 mortality risk was seen in dementia. WBC count was lower in patients with DS than in controls accompanying an increased inflammation due to hypersecretion of cytokines. As a result, 10 out of 12 patients with DS had an increased prevalence of sepsis and mechanical ventilation, proving to be another marker of severe disease in DS. The researchers found that there are a drastic disease progression and higher threats of acute lung injury and ARDS in DS groups contrasted to controls, which could lead to high mortality rates among them.
They concluded that due to intellectual disability and immune impairments, patients with DS are more prone to severe COVID-19 and the healthcare systems should focus on their treatment and prevention with essential care.
Also read: The Critical role of UGP2 – Pancreatic Ductal Adenocarcinoma Treatment
Source: Malle, L., Gao, C., Hur, C. et al. Individuals with Down syndrome hospitalized with COVID-19 have more severe disease. Genet Med (2020). https://doi.org/10.1038/s41436-020-01004-w
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