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... 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...
This cross‐sectional Physical Fitness Study compared cardiorespiratory fitness (VO2 peak), six‐minute walk test (6MWT), muscle strength (30sSTS), balance (BESS), and self‐reported physical activity level (IPAQ) in Norwegian adults with... more
This cross‐sectional Physical Fitness Study compared cardiorespiratory fitness (VO2 peak), six‐minute walk test (6MWT), muscle strength (30sSTS), balance (BESS), and self‐reported physical activity level (IPAQ) in Norwegian adults with achondroplasia (ACH) to reference values of average‐statured individuals. The feasibility of the physical fitness tests and IPAQ was explored. Forty‐three adults (22 women) participated. Mean age was 38 years (range 16–69 years). Mean differences (95% CI) for men and women with ACH compared to reference values were: VO2 peak. −7.0 m/min/kg (−13.6 to −0.5, p = .037), and − 7.9 ml/kg/min (−11.6 to −4.3, p < .001); 6MWT −270.8 m (−340.4 to −201.2, p < .001), and − 196.7 m (−244.3 to −149.0, p = .001); 30sSTS ‐4.6 repetitions (−7.8 to −1.5, p = .006), and − 1.1 repetitions (−3.4 to 1.1, p = .335). There were no differences within ACH participants, except for VO2 peak, where men performed better. Sufficient physical activity (> 600 metabolic equivalent of task weekly) was achieved by 79% of the participants. The feasibility of the 6MWT and 30sSTS was good. There was a strong correlation between the VO2 peak and 6MWT (men: r = 0.63, p = .007; women: r = 0.71, p < .001). The findings indicate that the 6MWT and 30sSTS test are useful in assessing functional exercise capacity and muscle strength in adults with ACH.
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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... 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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Abstract Purpose To improve the knowledge about physical exercise in patients with Hereditable Thoracic Aortic Disease, insight to the patient perspectives is necessary. The aim of this study was to explore aspects related to physical... more
Abstract Purpose To improve the knowledge about physical exercise in patients with Hereditable Thoracic Aortic Disease, insight to the patient perspectives is necessary. The aim of this study was to explore aspects related to physical exercise as highlighted by the patients themselves. Methods Focus group interviews with 36 people with Marfan syndrome, Loeys-Dietz syndrome and vascular Ehlers Danlos syndrome were conducted. Inductive systematic condensation analysis was performed. Results Four themes related to physical exercise were elucidated by the participants: (1) Being diagnosed. (2) Considerations of physical exercise. (3) Body image and function. (4) Future perspectives. The four themes are mutually interrelated in terms of barriers, facilitators and strategies for dealing with physical exercise. Our findings indicate that the participants experience exercise as a consistent dilemma between what is healthy and what is risky. Inconsistent professional advice, non-engaging activities, unpredictable health conditions and a fear of exercising were factors that may contribute to inactivity and a sedentary lifestyle. Conclusions The complexity and existential internal conflict related to physical exercise seemed to be a huge dilemma among persons with Hereditable Thoracic Aortic Disease. The balance between safe and healthy activities should be a research priority in these groups. Implications for rehabilitation Physical activity and exercise pose a difficult dilemma for patients with Hereditable Thoracic Aortic Disease, in terms of what is healthy and what is dangerous. People with Hereditable Thoracic Aortic Disease need help to minimize concern, stress and anxiety associated with exercise. Individualized adapted programs including physical, psychological and social rehabilitation goals are most likely to be successful in encouraging exercise in these patient groups.
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The aim is to study adults with vascular Ehlers–Danlos syndrome (vEDS) and Loeys–Dietz syndrome (LDS) with regard to sociodemographic characteristics, perceived vascular‐ and multi‐organ symptom burdens, and health services utilization.... more
The aim is to study adults with vascular Ehlers–Danlos syndrome (vEDS) and Loeys–Dietz syndrome (LDS) with regard to sociodemographic characteristics, perceived vascular‐ and multi‐organ symptom burdens, and health services utilization. This is a cross‐sectional study. In 2018, a postal questionnaire was sent to 71 individuals with genetically verified LDS types 1–4 or vEDS, age ≥ 18 years, recruited through a National Resource Centre for Rare Disorders in Norway. Eighteen patients with vEDS and 34 patients with LDS subtypes 1‐4 participated, the response rate was 74%. Median age was 43.5 (range 18‐68) years, and 58% were women. Median age at diagnosis was 34 years (range: 6–63). Severe vascular‐ and multi‐organ symptom burdens were found, and chronic pain was reported by 79%. Most respondents (87%) had cardiovascular surveillance visits, 58% yearly or more often, and still 29% had no antihypertensive medications. Three quarters communicated diagnosis‐related concerns with their general practitioner. A considerable group (31%) had left work before retirement age. Healthcare professionals should be aware of the spectrum of health burden in adults with vEDS and LDS. A verification of the diagnosis is crucial to counseling, including medical follow‐up, education, and work, and advices on precaution and life style decisions.
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The purpose of this study was to explore the literature on quality of life (QoL) in patients with hereditary thoracic aortic aneurysm and dissection (HTAAD); including Marfan syndrome (MFS), Loeys‐Dietz syndrome (LDS), vascular... more
The purpose of this study was to explore the literature on quality of life (QoL) in patients with hereditary thoracic aortic aneurysm and dissection (HTAAD); including Marfan syndrome (MFS), Loeys‐Dietz syndrome (LDS), vascular Ehlers‐Danlos syndrome (vEDS) and other HTAAD diagnoses, critically appraising and synthesizing the relevant literature. A systematic review was performed by searching the published literature using available medical, physical, psychological, social databases and other sources. Studies addressing QoL in persons with an HTAAD diagnosis, published in peer‐reviewed journals were assessed. Of 227 search results, 20 articles satisfied the eligibility criteria. No studies of QoL in LDS, vEDS, or other HTAAD were found, only on MFS. Most studies had been published in the last 3 years. All were cross‐sectional quantitative studies besides one pilot intervention study. Most studies were of small sample size, had low response rate or participants without verified diagnosis. Despite these limitations, most studies indicate that having an HTAAD diagnosis as MFS may negatively impact QoL, but few studies found any associations between the biomedical symptoms and decreased QoL. More research is needed on QoL in samples with verified HTAAD diagnosis to develop evidence‐based knowledge and appropriate guidelines for these diagnoses.
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Purpose To examine subjective health-related quality of life (HRQoL) in adults with congenital unilateral upper limb deficiency (UULD) in Norway and to explore the associations between demographic and clinical factors and HRQoL. Method... more
Purpose To examine subjective health-related quality of life (HRQoL) in adults with congenital unilateral upper limb deficiency (UULD) in Norway and to explore the associations between demographic and clinical factors and HRQoL. Method Cross-sectional study comparing HRQoL, measured by SF-36, among adults with UULD and an age- and gender-matched control group from the Norwegian general population (NGP). Results Seventy-seven respondents, median age 42 years (range: 20-82); 71% were women. Most had left-sided (61%), below elbow (53%), transverse (73%) deficiency. Compared to the NGP, the UULD group reported reduced HRQoL on all SF-36 subscales except for the role emotional (RE) scale (p=0.321), mental health (MH) (p=0.055) and mental component summary (MCS) (p=0.064). The greatest difference was on the bodily pain (BP) scale (point difference of 20.0). Multiple linear regression models showed significant association between several physical- and mental SF-36 subscales and occupational status, occurrence of comorbidity and chronic pain. Conclusions Persons with UULD reported reduced HRQoL on most SF-36 subscales, mostly in the physical health domain. Employment status, occurrence of comorbidity and chronic pain seem to have a negative impact on the HRQoL. Measures that can reduce pain and loss of function should be given particular attention in UULD rehabilitation. Implications for Rehabilitation Persons with congenital unilateral upper limb deficiency (UULD) who experience pain and discomfort should seek professional help for evaluating their everyday coping strategies. Professionals who meet persons with UULD should examine anomalies, comorbidity, pain and employment status before choosing advices and actions. Individually adapted grip-improving devices, environments, physical exercise and pain management programs should be implemented early to reduce pain, loss of function and decreased HRQoL. A multidisciplinary approach is often necessary when counseling persons with UULD.
Abstract Purpose: To describe an adult population with congenital limb deficiency (CLD) recruited through the National Resource Centre for Rare Disorders (TRS) in Norway: (1) demographic factors, (2) clinical features, (3) pain and (4)... more
Abstract Purpose: To describe an adult population with congenital limb deficiency (CLD) recruited through the National Resource Centre for Rare Disorders (TRS) in Norway: (1) demographic factors, (2) clinical features, (3) pain and (4) use of health care and welfare services. Methods: Cross-sectional study. In 2012, a postal questionnaire was sent to 186 eligible persons with CLD, age 20 years and older. Results: Ninety-seven respondents, median-age 39 years (range: 20-82); 71% were women. The population was divided into two subgroups: (1) unilateral upper-limb deficiency (UULD) n = 77, (2) multiple and/or lower-limb deficiency (MLD/LLD). About 40% worked full-time, 18% received disability pensions and 64% reported chronic pain, mostly bilateral pain. Grip-improving devices were used more often than prostheses; 23% were previous prosthesis users. Use of health care and welfare services are described. No significant differences were found between the subgroups regarding pain or employment status. Conclusions: Persons with CLD reported increased prevalence of chronic pain, mostly bilateral, and increased prevalence of early retirement. A greater focus on the benefits of the use of assistive devices, the consequences of overuse and vocational guidance may moderate pain and prevent early retirement. Further studies of more representative samples should be conducted to confirm our findings. Implications for Rehabilitation Most adults with congenital limb deficiency (CLD) live ordinary lives and experience normal life events. However, several report chronic pain and retire before normal retirement age. In spite of free and accessible prosthetic services, a large fraction chooses not to use prosthesis, more use grip-improving devices for specific activities. These preferences should be acknowledged by rehabilitation specialists. Focus on individually adapted environments, more information about the consequences of overuse, and vocational guidance may moderate pain and prevent early retirement.