Trisomy 21 and the coronavirus disease 2019 (COVID-19)

Cammarata‐Scalisi, Francisco; Tadich, Antonio Cárdenas; Medina, Marco T.; Callea, Michele

doi:10.5546/aap.2020.eng.230

Cited by 7 publications

(3 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…As an example, there is the statement "31 March, Paris-EURORDIS-Rare Diseases Europe is alarmed by reports from member organizations and individuals that people living with a rare disease are being discriminated against in critical care guidelines" (EURORDIS, 2020a). Some papers highlighted health-care concerns for individuals with rare or uncommon genetic diseases such as deaf children (Pattisapu et al, 2020); care of patients with Duchenne, Becker, and other muscular dystrophies (Veerapandiyan et al, 2020); Down Syndrome (Cammarata-Scalisi, Tadich, Medina, & Callea, 2020);…”

Section: Introductionmentioning

confidence: 99%

SARS‐CoV‐2 pandemic in the Brazilian community of rare diseases: A patient reported survey

Schwartz

Randon

Sá

et al. 2021

American J of Med Genetics Pt C

View full text Add to dashboard Cite

The COVID‐19 pandemic has led to a reorganization of health systems to prioritize the fight against the virus. The adoption of social distancing interfered with the flow of existing policies, and may thus negatively affect the most vulnerable groups, such as the rare disease community. Aimming at characterizing the perception of the impact of COVID‐19 on the health care of the Brazilian rare disease community, an online questionnaire addressed to patients with rare diseases and their caregivers was disseminated in the Brazilian territory between June 1st to July 5th, 2020. The questions dealt with the sanitary measures adopted; access to medical services; and mental suffering during the pandemic. The survey was answered by 1,466 participants (<18 yo = 53.3%) representing 192 rare diseases. Regarding physical distancing, 1,372 (93.6%) participants did not leave their residence, or did so only when essential; 1,321 (90.1%) always wore masks when leaving home. 1,042 (71.1%) and 995 (67.9%) participants, respectively, referred medical genetics appointments and rehabilitation therapies were postponed/canceled. Telemedicine was experienced by 1,026 (70%), and 68.3% agreed this is a good strategy for health care. Patients with Inborn Errors of Metabolism (IEM, n = 624, 42.5%) appear to have more access to information and ability to overcome difficulties, and feel less threatened, lonely and depressed than the non‐IEM group ( p < .05). There was an increment of the rare disease patients' vulnerability in the pandemic scenario. The cooperation of patients/caregivers along with adaptation of the health system is crucial and may be so even post‐pandemic.

show abstract

Section: Introductionmentioning

confidence: 99%

SARS‐CoV‐2 pandemic in the Brazilian community of rare diseases: A patient reported survey

Schwartz

Randon

Sá

et al. 2021

American J of Med Genetics Pt C

View full text Add to dashboard Cite

show abstract

“…In Brazil, to the best of our knowledge, three institutions (Down Syndrome Foundation, Pontifical Catholic University of Campinas, and Brazilian Cardiology Society) developed support materials to instruct patients with DS and their families in primary health care prevention, which was quite helpful (Russo et al 2020 ). Families of patients with DS and individuals in contact with them must follow prevention measures (Cammarata-Scalisi et al 2020 ). Also, we noticed that age was a risk factor for death only in the bivariate model.…”

Section: Discussionmentioning

confidence: 99%

Clinical characteristics and comorbidities of COVID-19 in unvaccinated patients with Down syndrome: first year report in Brazil

et al. 2022

View full text Add to dashboard Cite

Patients with Down syndrome (DS) are more affected by the Coronavirus Disease (COVID)-19 pandemic when compared with other populations. Therefore, the primary aim of our study was to report the death (case fatality rate) from SARS-CoV-2 infection in Brazilian hospitalized patients with DS from 03 January 2020 to 04 April 2021. The secondary objectives were (i) to compare the features of patients with DS and positive for COVID-19 (G1) to those with DS and with a severe acute respiratory infection (SARI) from other etiological factors (G2) to tease apart the unique influence of COVID-19, and (ii) to compare the features of patients with DS and positive for COVID-19 to those without DS, but positive for COVID-19 (G3) to tease apart the unique influence of DS. We obtained the markers for demographic profile, clinical symptoms, comorbidities, and the clinical features for SARI evolution during hospitalization in the first year of the COVID-19 pandemic in Brazil from a Brazilian open-access database. The data were compared between (i) G1 [1619 (0.4%) patients] and G2 [1431 (0.4%) patients]; and between (ii) G1 and G3 [222,181 (64.8%) patients]. The case fatality rate was higher in patients with DS and COVID-19 (G1: 39.2%), followed by individuals from G2 (18.1%) and G3 (14.0%). Patients from G1, when compared to G2, were older (≥ 25 years of age), presented more clinical symptoms related to severe illness and comorbidities, needed intensive care unit (ICU) treatment and non-invasive mechanical ventilation (MV) more frequently, and presented a nearly two fold-increased chance of death (OR = 2.92 [95% CI 2.44–3.50]). Patients from G1, when compared to G3, were younger (< 24 years of age), more prone to nosocomial infection, presented an increased chance for clinical symptoms related to a more severe illness; frequently needed ICU treatment, and invasive and non-invasive MV, and raised almost a three fold-increased chance of death (OR = 3.96 [95% CI 3.60–4.41]). The high case fatality rate in G1 was associated with older age (≥ 25 years of age), presence of clinical symptoms, and comorbidities, such as obesity, related to a more severe clinical condition. Unvaccinated patients with DS affected by COVID-19 had a high case fatality rate, and these patients had a different profile for comorbidities, clinical symptoms, and treatment (such as the need for ICU and MV) when compared with other study populations. Supplementary Information The online version contains supplementary material available at 10.1007/s00439-022-02468-3.

show abstract

“…Children appeared to be comparatively spared at the start of the COVID-19 pandemic, but later studies from multiple sites revealed a likely COVID-19-related severe multisystem inflammatory syndrome in children (MISC) and young adults [ 43 , 44 ]. The literature on COVID-19 in DS patients is still sparse, however, DS should be considered as a risk factor [ 45 ]. Children with DS have a distinct cardiovascular disease profile.…”

Section: Most Frequently (>10 Pubmed Hits) Associated Congenital and ...mentioning

confidence: 99%

Associations and Disease–Disease Interactions of COVID-19 with Congenital and Genetic Disorders: A Comprehensive Review

Hromić‐Jahjefendić

Barh

Pinto

et al. 2022

Viruses

View full text Add to dashboard Cite

Since December 2019, the COVID-19 pandemic, which originated in Wuhan, China, has resulted in over six million deaths worldwide. Millions of people who survived this SARS-CoV-2 infection show a number of post-COVID complications. Although, the comorbid conditions and post-COVID complexities are to some extent well reviewed and known, the impact of COVID-19 on pre-existing congenital anomalies and genetic diseases are only documented in isolated case reports and case series, so far. In the present review, we analyzed the PubMed indexed literature published between December 2019 and January 2022 to understand this relationship from various points of view, such as susceptibility, severity and heritability. Based on our knowledge, this is the first comprehensive review on COVID-19 and its associations with various congenital anomalies and genetic diseases. According to reported studies, some congenital disorders present high-risk for developing severe COVID-19 since these disorders already include some comorbidities related to the structure and function of the respiratory and cardiovascular systems, leading to severe pneumonia. Other congenital disorders rather cause psychological burdens to patients and are not considered high-risk for the development of severe COVID-19 infection.

show abstract

Trisomy 21 and the coronavirus disease 2019 (COVID-19)

Cited by 7 publications

References 7 publications

SARS‐CoV‐2 pandemic in the Brazilian community of rare diseases: A patient reported survey

SARS‐CoV‐2 pandemic in the Brazilian community of rare diseases: A patient reported survey

Clinical characteristics and comorbidities of COVID-19 in unvaccinated patients with Down syndrome: first year report in Brazil

Associations and Disease–Disease Interactions of COVID-19 with Congenital and Genetic Disorders: A Comprehensive Review

Contact Info

Product

Resources

About