Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases

Rovira-Remisa, M. Mar; Moreira, Mónica; Ventura, Paula Sol; González-Álvarez, Pablo; Mestres, Núria; Graterol-Torres, Freddzia; Joaquín, Clara; Seuma, Agustí Rodríguez-Palmero; Martínez-Colls, María del Mar; Roche, Ana; Ibáñez-Micó, Salvador; López‐Laso, Eduardo; Méndez-Hernández, M.; Murillo, Marta; Monlleó-Neila, Laura; Maqueda-Castellote, Elena; Riera, M. del Toro; Felipe‐Rucián, Ana; Giralt-López, Maria; Cortès‐Saladelafont, Elisenda

doi:10.1016/j.ymgmr.2023.100962

Cited by 5 publications

(3 citation statements)

References 43 publications

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“…In the QCP, respondents were also asked about the impact of the COVID-19 pandemic on their functioning. As revealed, in contrast to studies [28] conducted on a group of patients with rare diseases and metabolic disorders in Spain, the majority of patients in the examined group did not notice a significant difference in the functioning of educational or medical centers. This may be attributed to the fact that the study was conducted in 2021 when most centers had already returned to standard operations, maintaining minimal restrictions such as mask-wearing and hand sanitization.…”

Section: Discussioncontrasting

confidence: 83%

From Genotype to Phenotype of Polish Patients with Pitt–Hopkins Syndrome concerning the Quality of Life and Family Functioning

Telenga,

Rozensztrauch,

Giżewska-Kacprzak

et al. 2024

JCM

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Background: Pitt–Hopkins syndrome (PTHS) is a rare genetic disorder affecting psychomotor, social, and intellectual development, caused by a mutation in the TCF4 gene. The study aims to gather the phenotype and genotype data of PTHS patients from Poland and to assess the quality of life (QoL) and the impact of the disorders on the family. Methods: Eight families with PTHS participated in the study. To obtain data, the following standardized questionnaires were used: Questionnaire on Clinical Problems (QCP), the PedsQL™ Family Impact Module, and the QL-Disability Questionnaire. Additionally, a retrospective analysis of clinical examination, genetic consult, medical history, and genotype of each individual was performed. Results: All of the examined children exhibited a mutation in the TCF4 gene and typical features of PTHS. The most prevalent clinical symptoms in the study group included typical PTHS appearance, intellectual disability (n = 5; as the rest of the patients were too young to be assessed), abnormal speech development (n = 8), reduced pain response (n = 7), constipation (n = 7), drooling (n = 7), cold extremities (n = 7), and disturbances in sensory integration processes (n = 7). The QL-Disability Questionnaire revealed a total QoL score of 67.7/100 for children with PTHS, while the QoL for their families in the PedsQL Family Impact Module was 53.82/100. The highest-rated domain was cognitive functioning (Median (Me) = 67.50; Standard Deviation (SD) = 21.95), while the lowest was daily activities (Me = 25.00; SD = 29.86). Conclusions: The study allowed the collection of data on the phenotype and genotype of children with PTHS living in Poland. Overall, our study showed that the QoL of children with PTHS is impaired.

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Section: Discussioncontrasting

confidence: 83%

From Genotype to Phenotype of Polish Patients with Pitt–Hopkins Syndrome concerning the Quality of Life and Family Functioning

Telenga,

Rozensztrauch,

Giżewska-Kacprzak

et al. 2024

JCM

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“…A PubMed search (search terms “Rare disease” and “COVID-19,” run on July 6, 2023) identified 148 potential matches, but review of the abstracts indicated that most publications were case reports, discussion papers, or other reports that do not entail data collection from people living with RDs: only 25 articles reported results of cross-sectional surveys or longitudinal studies of patients with RD or their caregivers [ 28 - 52 ]. Large studies (≥50 participants) in Asia [ 29 , 37 , 40 ], Europe and the United Kingdom [ 30 , 33 , 36 , 41 , 49 , 51 ], the United States [ 45 , 52 ], and Brazil [ 43 ] reported variable impact of the pandemic, including increased risk of acquiring COVID-19 [ 33 , 37 , 39 ], increased COVID-19–related mortality [ 33 , 37 ], increased anxiety and depression and other psychological problems [ 29 , 30 , 36 , 41 , 51 , 52 ], low quality of life [ 41 , 51 ], difficulties with access to care [ 36 , 40 , 43 , 45 , 52 ], and difficulties complying with public health recommendations such as masking [ 49 ].…”

Section: Introductionmentioning

confidence: 99%

Impact of the COVID-19 Pandemic on People Living With Rare Diseases and Their Families: Results of a National Survey

Macaluso,

Rothenberg,

Ferkol

et al. 2024

JMIR Public Health Surveill

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Background With more than 103 million cases and 1.1 million deaths, the COVID-19 pandemic has had devastating consequences for the health system and the well-being of the entire US population. The Rare Diseases Clinical Research Network funded by the National Institutes of Health was strategically positioned to study the impact of the pandemic on the large, vulnerable population of people living with rare diseases (RDs). Objective This study was designed to describe the characteristics of COVID-19 in the RD population, determine whether patient subgroups experienced increased occurrence or severity of infection and whether the pandemic changed RD symptoms and treatment, and understand the broader impact on respondents and their families. Methods US residents who had an RD and were <90 years old completed a web-based survey investigating self-reported COVID-19 infection, pandemic-related changes in RD symptoms and medications, access to care, and psychological impact on self and family. We estimated the incidence of self-reported COVID-19 and compared it with that in the US population; evaluated the frequency of COVID-19 symptoms according to self-reported infection; assessed infection duration, complications and need for hospitalization; assessed the influence of the COVID-19 pandemic on RD symptoms and treatment, and whether the pandemic influenced access to care, special food and nutrition, or demand for professional psychological assistance. Results Between May 2, 2020, and December 15, 2020, in total, 3413 individuals completed the survey. Most were female (2212/3413, 64.81%), White (3038/3413, 89.01%), and aged ≥25 years (2646/3413, 77.53%). Overall, 80.6% (2751/3413) did not acquire COVID-19, 2.08% (71/3413) acquired it, and 16.58% (566/3413) did not know. Self-reported cases represented an annual incidence rate of 2.2% (95% CI 1.7%-2.8%). COVID-19 cases were more than twice the expected (71 vs 30.3; P<.001). COVID-19 was associated with specific symptoms (loss of taste: odds ratio [OR] 38.9, 95% CI 22.4-67.6, loss of smell: OR 30.6, 95% CI 17.7-53.1) and multiple symptoms (>9 symptoms vs none: OR 82.5, 95% CI 29-234 and 5-9: OR 44.8, 95% CI 18.7-107). Median symptom duration was 16 (IQR 9-30) days. Hospitalization (7/71, 10%) and ventilator support (4/71, 6%) were uncommon. Respondents who acquired COVID-19 reported increased occurrence and severity of RD symptoms and use or dosage of select medications; those who did not acquire COVID-19 reported decreased occurrence and severity of RD symptoms and use of medications; those who did not know had an intermediate pattern. The pandemic made it difficult to access care, receive treatment, get hospitalized, and caused mood changes for respondents and their families. Conclusions Self-reported COVID-19 was more frequent than expected and was associated with increased prevalence and severity of RD symptoms and greater use of medications. The pandemic negatively affected access to care and caused mood changes in the respondents and family members. Continued surveillance is necessary.

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“…A PubMed search (search terms "Rare disease" and "COVID-19," run on July 6, 2023) identified 148 potential matches, but review of the abstracts indicated that most publications were case reports, discussion papers, or other reports that do not entail data collection from people living with RDs: only 25 articles reported results of cross-sectional surveys or longitudinal studies of patients with RD or their caregivers . Large studies (≥50 participants) in Asia [29,37,40], Europe and the United Kingdom [30,33,36,41,49,51], the United States [45,52], and Brazil [43] reported variable impact of the pandemic, including increased risk of acquiring COVID-19 [33,37,39], increased COVID-19-related mortality [33,37], increased anxiety and depression and other psychological problems [29,30,36,41,51,52], low quality of life [41,51], difficulties with access to care [36,40,43,45,52], and difficulties complying with public health recommendations such as masking [49].…”

Section: Introductionmentioning

confidence: 99%

Impact of the COVID-19 Pandemic on People Living With Rare Diseases and Their Families: Results of a National Survey (Preprint)

Macaluso,

Rothenberg,

Ferkol

et al. 2023

Preprint

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BACKGROUND With more than 103 million cases and 1.1 million deaths, the COVID-19 pandemic has had devastating consequences for the health system and the well-being of the entire US population. The Rare Diseases Clinical Research Network funded by the National Institutes of Health was strategically positioned to study the impact of the pandemic on the large, vulnerable population of people living with rare diseases (RDs). OBJECTIVE This study was designed to describe the characteristics of COVID-19 in the RD population, determine whether patient subgroups experienced increased occurrence or severity of infection and whether the pandemic changed RD symptoms and treatment, and understand the broader impact on respondents and their families. METHODS US residents who had an RD and were <90 years old completed a web-based survey investigating self-reported COVID-19 infection, pandemic-related changes in RD symptoms and medications, access to care, and psychological impact on self and family. We estimated the incidence of self-reported COVID-19 and compared it with that in the US population; evaluated the frequency of COVID-19 symptoms according to self-reported infection; assessed infection duration, complications and need for hospitalization; assessed the influence of the COVID-19 pandemic on RD symptoms and treatment, and whether the pandemic influenced access to care, special food and nutrition, or demand for professional psychological assistance. RESULTS Between May 2, 2020, and December 15, 2020, in total, 3413 individuals completed the survey. Most were female (2212/3413, 64.81%), White (3038/3413, 89.01%), and aged ≥25 years (2646/3413, 77.53%). Overall, 80.6% (2751/3413) did not acquire COVID-19, 2.08% (71/3413) acquired it, and 16.58% (566/3413) did not know. Self-reported cases represented an annual incidence rate of 2.2% (95% CI 1.7%-2.8%). COVID-19 cases were more than twice the expected (71 vs 30.3; <i>P</i><.001). COVID-19 was associated with specific symptoms (loss of taste: odds ratio [OR] 38.9, 95% CI 22.4-67.6, loss of smell: OR 30.6, 95% CI 17.7-53.1) and multiple symptoms (>9 symptoms vs none: OR 82.5, 95% CI 29-234 and 5-9: OR 44.8, 95% CI 18.7-107). Median symptom duration was 16 (IQR 9-30) days. Hospitalization (7/71, 10%) and ventilator support (4/71, 6%) were uncommon. Respondents who acquired COVID-19 reported increased occurrence and severity of RD symptoms and use or dosage of select medications; those who did not acquire COVID-19 reported decreased occurrence and severity of RD symptoms and use of medications; those who did not know had an intermediate pattern. The pandemic made it difficult to access care, receive treatment, get hospitalized, and caused mood changes for respondents and their families. CONCLUSIONS Self-reported COVID-19 was more frequent than expected and was associated with increased prevalence and severity of RD symptoms and greater use of medications. The pandemic negatively affected access to care and caused mood changes in the respondents and family members. Continued surveillance is necessary.

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Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases

Cited by 5 publications

References 43 publications

From Genotype to Phenotype of Polish Patients with Pitt–Hopkins Syndrome concerning the Quality of Life and Family Functioning

From Genotype to Phenotype of Polish Patients with Pitt–Hopkins Syndrome concerning the Quality of Life and Family Functioning

Impact of the COVID-19 Pandemic on People Living With Rare Diseases and Their Families: Results of a National Survey

Impact of the COVID-19 Pandemic on People Living With Rare Diseases and Their Families: Results of a National Survey (Preprint)

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