Balkan Journal of Medical Genetics

THE IMPACT OF THE COVID-19 PANDEMIC ON INDIVIDUALS WITH DOWN SYNDROME: A CROATIAN SURVEY
Barišić A, Ergović Ravančić M, Majstorović D, Vraneković J
*Corresponding Author: Assoc. Prof. Jadranka Vraneković, Faculty of Medicine, University of Rijeka, Department of Medical Biology and Genetics, B. Branchetta 20, 51000 Rijeka, Croatia; tel: +385 (0)51 651 131, fax: +385 (0)51 678 896. Email: jadranka.vranekovic@medri.uniri.hr
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INTRODUCTION

Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection has spread uncontrollably world- wide. Among the most vulnerable groups in society are populations with multiple comorbidities, including individu- als with Down syndrome (DS) [1]. Down syndrome, an expression of chromosome 21 trisomy (Chr21), is the most common genetic disorder known to date. It is observed in 1 in 400-1500 newborns worldwide [2]. Individuals with DS suffer varying degrees of cognitive disability, morphogenet- ic abnormalities, and a number of specific comorbidities. In addition, DS is often characterized by upper respiratory tract anatomical differences, immune dysfunction, and cardiovas- cular disease, which may promote coinfection and increase the risk for more severe clinical outcomes of COVID-19 [3,4]. In addition, Chr21 contains genes directly involved in the cell entry of SARS-CoV-2 (e.g. TMPRSS2, APP, SYNJ1, ITSN1) [5], and multiple genes involved in orchestrating im- mune response (e.g. four interferon receptors, which serve as receptor subunits for the interleukins [6]. To gain insight into the susceptibility, manifestation, and impact of COVID-19 and DS, the Trisomy 21 Re- search Society (T21RS) conducted the largest survey of individuals with DS who had COVID-19. The survey was designed to describe the epidemiologic and clinical charac- teristics of COVID-19 and Down syndrome, including risk factors for severe disease progression, compared to those in the general population. Preliminary results that are based on >1000 individuals with Down syndrome suggest a more severe manifestation of SARS-CoV-2 infection, with more severe medical complications and a higher mortality rate in individuals with DS compared with individuals without [7]. Since 2021 several studies have examined the impact of the COVID-19 pandemic on health in people with DS from diverse countries [8,9,10,11,12,13,14,15,16,17]. Considering this, we conducted an online survey be- tween March and October of 2022 to assess the impact of COVID-19 on DS individuals in Croatia. In addition, we explored the views of their parents and caregivers about the challenges they faced during COVID-19 and their experience with medical support.

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