The purpose was to study self‐reported chronic pain and fatigue symptoms among adults with molecu... more The purpose was to study self‐reported chronic pain and fatigue symptoms among adults with molecularly verified Loeys–Dietz and vascular Ehlers–Danlos syndrome using a cross‐sectional questionnaire design. Seventy adults were invited through a National Resource Centre for Rare Disorders. A study specific questionnaire including Brief Pain Inventory, Standardized Nordic Questionnaire, Fatigue Severity Scale, Hospital Anxiety & Depression Scale, questions on physical activity, and disease burden was used. Fifty‐two persons participated, n = 34 with Loeys–Dietz and n = 18 with vascular Ehlers–Danlos syndrome, aged 18–68 years, 58% women. Chronic pain (79%) and fatigue (58%) symptoms were common. Half developed pain during childhood/adolescence. Sleep problems and high multi‐organ burden were significantly associated with chronic pain (p = 0.004, p = 0.014) and high fatigue (p < 0.001, p < 0.001). Chronic pain was associated with higher scores of fatigue (p = 0.002). Higher scores of fatigue were associated with lower level of physical activity (p = 0.014), higher cardiovascular burden (p = 0.025), and higher symptoms of anxiety (p = 0.001). In this study, symptoms of chronic pain, fatigue, sleep problems, and disease burden seemed to mutually reinforce each other. Initiatives should consider interventions aimed at postponing the onset and reducing symptoms of pain, fatigue, and sleep problems and thus reduce the total disease burden at an early stage in patients with these complex conditions.
Background The purpose of this study was twofold: (i) To assess the parents’ experiences and perc... more Background The purpose of this study was twofold: (i) To assess the parents’ experiences and perception of participating in a “Parental Intervention Program for Preschool children with Rare Diseases” (PIPP-RDs). (ii) To evaluate which elements of the PIPP-RDs that the parents emphasized as important for improving their health literacy related to facilitating the transition of their children from kindergarten to school. Method A mixed methods evaluation study was conducted ten and eleven months post-intervention, integrating an online quantitative survey combined with individual semi-structured interviews. Twenty-two parents participated in individual interviews, of these 18 also responded to the online questionnaire survey. Results All parents that participated in this study reported that the information conveyed at the program was of great value and utility, 88% reported significantly alleviated stress associated to their child`s school-start, 84% indicated had improved the school-...
Background Work participation is a crucial aspect of health outcome and an important part of life... more Background Work participation is a crucial aspect of health outcome and an important part of life for most people with rare genetic diseases. Despite that work participation is a social determinant of health and seems necessary for understanding health behaviours and quality of life, it is an under-researched and under-recognized aspect in many rare diseases. The objectives of this study was to map and describe existing research on work participation, identify research gaps, and point to research agendas in a selection of rare genetic diseases. Methods A scoping review was performed by searching relevant literature in bibliographic databases and other sources. Studies addressing work participation in people with rare genetic diseases published in peer reviewed journals were assessed using EndNote and Rayyan. Data were mapped and extracted based on the research questions concerning the characteristics of the research. Results Of 19,867 search results, 571 articles were read in full t...
Introduction The purpose of this study was to explore the literature on fatigue in patients with ... more Introduction The purpose of this study was to explore the literature on fatigue in patients with syndromic heritable thoracic aortic disease (sHTAD), including Marfan syndrome (MFS), Loeys-Dietz syndrome (LDS), vascular Ehlers Danlos syndrome (vEDS) and other sHTADs, critically appraise and synthesize the relevant literature. We also aimed to investigate how adults with sHTAD experience and perceive fatigue, and to discuss clinical implications and direction for further research. Methods First, a systematic review was performed by searching the published literature in all relevant databases and other sources until 20th October 2022. Second, a qualitative focus group interview study was conducted of 36 adults with sHTADs (LDS n = 11, MFS n = 14, vEDS n = 11). Results In the systematic review, 33 articles satisfied the eligibility criteria (3 reviews and 30 primary studies). Of the primary studies: 25 dealt with adults (MFS n = 17, MFS/EDS n = 1, EDS n = 2, LDS/vEDS n = 3, different s...
Additional file 1. PRISMA-ScR Checklist.docx. Describes the steps in this article, according to t... more Additional file 1. PRISMA-ScR Checklist.docx. Describes the steps in this article, according to the PRISMA-ScR Checklist.
Additional file 5. Reference list excluded articles.pdf. List of excluded references with reason ... more Additional file 5. Reference list excluded articles.pdf. List of excluded references with reason for exclusion.
Additional file 3. Data extraction of included articles.pdf. Data is presented for each included ... more Additional file 3. Data extraction of included articles.pdf. Data is presented for each included reference. References are presented in alphanetical order in diagnsotic grups and diagnoses.
Background Patients’ involvement (PI) in research is recognized as a valuable strategy for increa... more Background Patients’ involvement (PI) in research is recognized as a valuable strategy for increasing the quality, developing more targeted research and to speed up more innovative research dissemination. Nevertheless, patient involvement in rare diseases research (PI-RDR) is scarce. The aims were: To study the Norwegian researchers` experiences and perceptions of PI-RDR and review the literature on PI-RDR. Methods 1. A systematic scoping review of the literature on PI-RDR. 2. A cross-sectional questionnaire study with close-ended and open-ended questions to investigate the researchers` experiences. Results In the scoping review 608 articles read in full-text and 13 articles (one review and twelve primary studies) were included. The heterogeneity of the design, methodology and results was large. Most studies described several benefits of PI, but few described methods for measuring impacts and effectiveness of PI-RDR. In the cross sectional part of this study, 145 of 251 employees wo...
Additional file 4. Reference list of included articles.pdf. First, a list of all included article... more Additional file 4. Reference list of included articles.pdf. First, a list of all included articles is given, then references from some specific themes (secondary research articles – reviews, articles on diagnostics – development/ validation of fatigue assessment tools, articles on treatment effects, articles on patient's views and experiences).
Background Experienced fatigue is an under-recognized and under-researched feature in persons wit... more Background Experienced fatigue is an under-recognized and under-researched feature in persons with many different rare diseases. A better overview of the characteristics of existing research on experienced fatigue in children and adults with rare diseases is needed. The purpose of this review was to map and describe characteristics of existing research on experienced fatigue in a selection of rare diseases in rare developmental defects or anomalies during embryogenesis and rare genetic diseases. Furthermore, to identify research gaps and point to research agendas. Methods We applied a scoping review methodology, and performed a systematic search in March 2020 in bibliographic databases. References were sorted and evaluated for inclusion using EndNote and Rayyan. Data were extracted on the main research questions concerning characteristics of research on experienced fatigue (definition and focus on fatigue, study populations, research questions investigated and methods used). Results...
A cross sectional study of challenges related to work, satisfaction with life, chronic pain and f... more A cross sectional study of challenges related to work, satisfaction with life, chronic pain and fatigue. Dissertation for the degree of philosophiae doctor (PhD)Department of Social Work, Child Welfare and Social Policy, Faculty of Social Sciences, Oslo and Akershus University College of Applied Sciences. Utgivelsesdata Tittel:Psychosocial aspects of adults with Marfan Syndrome. A cross sectional study of challenges related to work, satisfaction with life, chronic pain and fatigueForfatter(e):Gry VelvinSerie:HiOA avhandlingerIssn:1893-0476Nr:2016 nr 7Utgiver:HiOAAvdeling/fakultet:SAMSider:239Pris:325,– ISBN-print:978-82-8364-030-4
Objective: To explore life satisfaction among adults with Loeys-Dietz and those with vascular Ehl... more Objective: To explore life satisfaction among adults with Loeys-Dietz and those with vascular Ehlers-Danlos syndrome. Design: Postal survey in 2018. Participants and methods: Persons with molecularly verified Loeys-Dietz syndrome or vascular Ehlers-Danlos syndrome were recruited through the TRS [AQ2] National Resource Centre for Rare Disorders in Norway. The study used the Life Satisfaction Questionnaire 11, Hospital Anxiety and Depression Scale, Fatigue Severity Scale, and questions about physical activity and disease burden. Descriptive statistics were conducted with Bonferroni corrections. Results: The response rate was 74%, 52 participants, age range 18–68 years, and 58% were women. Only half of the participants were satisfied with their lives as a whole. Participants reported dissatisfaction with vocation, somatic health, and sexual life in particular. Participants with vascular Ehlers-Danlos syndrome (n = 18) were satisfied with more areas of life than those with Loeys-Dietz s...
The purpose was to study self‐reported chronic pain and fatigue symptoms among adults with molecu... more The purpose was to study self‐reported chronic pain and fatigue symptoms among adults with molecularly verified Loeys–Dietz and vascular Ehlers–Danlos syndrome using a cross‐sectional questionnaire design. Seventy adults were invited through a National Resource Centre for Rare Disorders. A study specific questionnaire including Brief Pain Inventory, Standardized Nordic Questionnaire, Fatigue Severity Scale, Hospital Anxiety & Depression Scale, questions on physical activity, and disease burden was used. Fifty‐two persons participated, n = 34 with Loeys–Dietz and n = 18 with vascular Ehlers–Danlos syndrome, aged 18–68 years, 58% women. Chronic pain (79%) and fatigue (58%) symptoms were common. Half developed pain during childhood/adolescence. Sleep problems and high multi‐organ burden were significantly associated with chronic pain (p = 0.004, p = 0.014) and high fatigue (p < 0.001, p < 0.001). Chronic pain was associated with higher scores of fatigue (p = 0.002). Higher scores of fatigue were associated with lower level of physical activity (p = 0.014), higher cardiovascular burden (p = 0.025), and higher symptoms of anxiety (p = 0.001). In this study, symptoms of chronic pain, fatigue, sleep problems, and disease burden seemed to mutually reinforce each other. Initiatives should consider interventions aimed at postponing the onset and reducing symptoms of pain, fatigue, and sleep problems and thus reduce the total disease burden at an early stage in patients with these complex conditions.
Background The purpose of this study was twofold: (i) To assess the parents’ experiences and perc... more Background The purpose of this study was twofold: (i) To assess the parents’ experiences and perception of participating in a “Parental Intervention Program for Preschool children with Rare Diseases” (PIPP-RDs). (ii) To evaluate which elements of the PIPP-RDs that the parents emphasized as important for improving their health literacy related to facilitating the transition of their children from kindergarten to school. Method A mixed methods evaluation study was conducted ten and eleven months post-intervention, integrating an online quantitative survey combined with individual semi-structured interviews. Twenty-two parents participated in individual interviews, of these 18 also responded to the online questionnaire survey. Results All parents that participated in this study reported that the information conveyed at the program was of great value and utility, 88% reported significantly alleviated stress associated to their child`s school-start, 84% indicated had improved the school-...
Background Work participation is a crucial aspect of health outcome and an important part of life... more Background Work participation is a crucial aspect of health outcome and an important part of life for most people with rare genetic diseases. Despite that work participation is a social determinant of health and seems necessary for understanding health behaviours and quality of life, it is an under-researched and under-recognized aspect in many rare diseases. The objectives of this study was to map and describe existing research on work participation, identify research gaps, and point to research agendas in a selection of rare genetic diseases. Methods A scoping review was performed by searching relevant literature in bibliographic databases and other sources. Studies addressing work participation in people with rare genetic diseases published in peer reviewed journals were assessed using EndNote and Rayyan. Data were mapped and extracted based on the research questions concerning the characteristics of the research. Results Of 19,867 search results, 571 articles were read in full t...
Introduction The purpose of this study was to explore the literature on fatigue in patients with ... more Introduction The purpose of this study was to explore the literature on fatigue in patients with syndromic heritable thoracic aortic disease (sHTAD), including Marfan syndrome (MFS), Loeys-Dietz syndrome (LDS), vascular Ehlers Danlos syndrome (vEDS) and other sHTADs, critically appraise and synthesize the relevant literature. We also aimed to investigate how adults with sHTAD experience and perceive fatigue, and to discuss clinical implications and direction for further research. Methods First, a systematic review was performed by searching the published literature in all relevant databases and other sources until 20th October 2022. Second, a qualitative focus group interview study was conducted of 36 adults with sHTADs (LDS n = 11, MFS n = 14, vEDS n = 11). Results In the systematic review, 33 articles satisfied the eligibility criteria (3 reviews and 30 primary studies). Of the primary studies: 25 dealt with adults (MFS n = 17, MFS/EDS n = 1, EDS n = 2, LDS/vEDS n = 3, different s...
Additional file 1. PRISMA-ScR Checklist.docx. Describes the steps in this article, according to t... more Additional file 1. PRISMA-ScR Checklist.docx. Describes the steps in this article, according to the PRISMA-ScR Checklist.
Additional file 5. Reference list excluded articles.pdf. List of excluded references with reason ... more Additional file 5. Reference list excluded articles.pdf. List of excluded references with reason for exclusion.
Additional file 3. Data extraction of included articles.pdf. Data is presented for each included ... more Additional file 3. Data extraction of included articles.pdf. Data is presented for each included reference. References are presented in alphanetical order in diagnsotic grups and diagnoses.
Background Patients’ involvement (PI) in research is recognized as a valuable strategy for increa... more Background Patients’ involvement (PI) in research is recognized as a valuable strategy for increasing the quality, developing more targeted research and to speed up more innovative research dissemination. Nevertheless, patient involvement in rare diseases research (PI-RDR) is scarce. The aims were: To study the Norwegian researchers` experiences and perceptions of PI-RDR and review the literature on PI-RDR. Methods 1. A systematic scoping review of the literature on PI-RDR. 2. A cross-sectional questionnaire study with close-ended and open-ended questions to investigate the researchers` experiences. Results In the scoping review 608 articles read in full-text and 13 articles (one review and twelve primary studies) were included. The heterogeneity of the design, methodology and results was large. Most studies described several benefits of PI, but few described methods for measuring impacts and effectiveness of PI-RDR. In the cross sectional part of this study, 145 of 251 employees wo...
Additional file 4. Reference list of included articles.pdf. First, a list of all included article... more Additional file 4. Reference list of included articles.pdf. First, a list of all included articles is given, then references from some specific themes (secondary research articles – reviews, articles on diagnostics – development/ validation of fatigue assessment tools, articles on treatment effects, articles on patient's views and experiences).
Background Experienced fatigue is an under-recognized and under-researched feature in persons wit... more Background Experienced fatigue is an under-recognized and under-researched feature in persons with many different rare diseases. A better overview of the characteristics of existing research on experienced fatigue in children and adults with rare diseases is needed. The purpose of this review was to map and describe characteristics of existing research on experienced fatigue in a selection of rare diseases in rare developmental defects or anomalies during embryogenesis and rare genetic diseases. Furthermore, to identify research gaps and point to research agendas. Methods We applied a scoping review methodology, and performed a systematic search in March 2020 in bibliographic databases. References were sorted and evaluated for inclusion using EndNote and Rayyan. Data were extracted on the main research questions concerning characteristics of research on experienced fatigue (definition and focus on fatigue, study populations, research questions investigated and methods used). Results...
A cross sectional study of challenges related to work, satisfaction with life, chronic pain and f... more A cross sectional study of challenges related to work, satisfaction with life, chronic pain and fatigue. Dissertation for the degree of philosophiae doctor (PhD)Department of Social Work, Child Welfare and Social Policy, Faculty of Social Sciences, Oslo and Akershus University College of Applied Sciences. Utgivelsesdata Tittel:Psychosocial aspects of adults with Marfan Syndrome. A cross sectional study of challenges related to work, satisfaction with life, chronic pain and fatigueForfatter(e):Gry VelvinSerie:HiOA avhandlingerIssn:1893-0476Nr:2016 nr 7Utgiver:HiOAAvdeling/fakultet:SAMSider:239Pris:325,– ISBN-print:978-82-8364-030-4
Objective: To explore life satisfaction among adults with Loeys-Dietz and those with vascular Ehl... more Objective: To explore life satisfaction among adults with Loeys-Dietz and those with vascular Ehlers-Danlos syndrome. Design: Postal survey in 2018. Participants and methods: Persons with molecularly verified Loeys-Dietz syndrome or vascular Ehlers-Danlos syndrome were recruited through the TRS [AQ2] National Resource Centre for Rare Disorders in Norway. The study used the Life Satisfaction Questionnaire 11, Hospital Anxiety and Depression Scale, Fatigue Severity Scale, and questions about physical activity and disease burden. Descriptive statistics were conducted with Bonferroni corrections. Results: The response rate was 74%, 52 participants, age range 18–68 years, and 58% were women. Only half of the participants were satisfied with their lives as a whole. Participants reported dissatisfaction with vocation, somatic health, and sexual life in particular. Participants with vascular Ehlers-Danlos syndrome (n = 18) were satisfied with more areas of life than those with Loeys-Dietz s...
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