Work participation in adults with rare genetic diseases - a scoping review.

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 text, and 141 satisfied the eligibility criteria covering 33 different rare genetic diseases; 7 were reviews and 134 primary research articles. In 21% of the articles the primary aim was to investigate work participation. The extent of studies varied between the different diseases. Two diseases had more than 20 articles, but most had only one or two articles. Cross-sectional quantitative studies were predominant, with few utilizing prospective or qualitative design. Nearly all articles (96%) reported information about work participation rate, and 45% also included information about factors associated with work participation and work disability. Due to differences in methodologies, cultures and respondents, comparison between and within diseases are difficult. Nevertheless, studies indicated that many people with different rare genetic diseases experience challenges related to work, closely associated to the symptoms of the disease. CONCLUSION: While studies indicate high prevalence of work disability in many patients with rare diseases, the research is scarce and fragmented. More research is warranted. Information about the unique challenges of living with different rare diseases is crucial for health and welfare systems to better facilitate work participation. In addition, the changing nature of work in the digital age, may also open up new possibilities for people with rare genetic diseases and should be explored.

Fatigue in patients with syndromic heritable thoracic aortic disease: a systematic review of the literature and a qualitative study of patients' experiences and perceptions.

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 sHTADs n = 2), 5 with children (MFS n = 4, different sHTADs n = 1). Twenty-two were cross-sectional quantitative studies, 4 prospective and 4 qualitative studies. The quality of the included studies was mostly good, but many had small sample sizes, low response rates and/or participants without verified diagnosis. Despite these limitations, studies indicated high prevalence of fatigue (ranging from 37 to 89%), and fatigue was associated with both health and psychosocial aspects. Few studies found that fatigue was associated with disease-related symptoms. In the qualitative focus groups most of the participants reported that they had experienced fatigue which influenced several aspects of life. Four themes related to fatigue were elucidated: (1) different diagnoses-different fatigue?, (2) the nature of fatigue, (3) searches for causes of fatigue, (4) dealing with fatigue in daily life. The four themes seemed mutually interrelated in terms of barriers, strategies and facilitators for dealing with fatigue. The participants experienced fatigue as a consistent dilemma between self-assertion and inadequacy. Fatigue seems to influence several aspects of daily life and may be one of the most debilitating symptoms of having a sHTAD. CONCLUSION: Fatigue seems to negatively impact the lives of people with sHTADs and should be recognized as an important aspect in the lifelong follow-up of these patients. The life-threatening complications of sHTADs may result in emotional stress, including fatigue and the risk of developing a sedentary lifestyle. Research and clinical initiatives should consider rehabilitation interventions aiming at postponing the onset or reducing symptoms of fatigue.

Education and employment status among adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome in Norway, a questionnaire based study.

OBJECTIVES: To describe education level and employment status among adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome, and explore factors related to work participation. MATERIALS AND METHODS: Cross-sectional postal survey in 2018. Individuals with molecularly verified diagnosis were recruited through a National Resource Centre for Rare Disorders. A study specific questionnaire included topics on disease burden and validated instruments regarding education level, employment, pain, fatigue, psychological distress, and satisfaction with life. RESULTS: Fifty persons (56% women) aged 18-67 years, participated. Almost 60% reported education level ≤13 years. Two thirds (66%) received disability benefits, 21 (42%) had full-time disability pension. The median age at ending work was 41 years. Full-time employed and students were younger (p = 0.014), less fatigued (p = 0.035), had less sleep problems (p = 0.028) and higher satisfaction with life (p<0.001) than those who received disability pension. A third (32%) were currently or used to be in sedentary work, and 68% currently had or used to be in practical work requiring much standing and walking (23%), much walking and lifting (34%) or heavy manual work (11%). CONCLUSIONS: There is a potential that more adults with these diagnoses can sustain employment for more years. Health and social service follow-up routines and future studies should include details on employment perspectives to reveal those at risk of poor employment and to identify modifiable factors for work participation.

The seventh survey of the Tromsø Study (Tromsø7) 2015-2016: study design, data collection, attendance, and prevalence of risk factors and disease in a multipurpose population-based health survey.

AIMS: The Tromsø Study is an ongoing population-based health study in Tromsø, Norway, initiated in 1974. The purpose of the seventh survey (Tromsø7) 2015-2016 was to advance the population risk factor surveillance and to collect new types of data. We present the study design, data collection, attendance, and prevalence of risk factors and disease. METHODS: All inhabitants in Tromsø municipality, Norway, aged 40 years and older (N=32,591) were invited to a health screening including extensive questionnaires, face-to-face interviews, biological sampling (blood, urine, saliva, nasal/throat swabs, faeces), measurements (anthropometry, blood pressure, pulse, pulse oximetry) and clinical examinations (pain sensitivity, echocardiography, cognitive, physical, and lung function, accelerometer measurements, eye examinations, carotid ultrasound, electrocardiography, dual-energy X-ray absorptiometry, and heart, lung and carotid auscultation). New research areas in this round were dental and oral health examinations, collection of faecal samples for studies of normal bacterial flora and antibiotic resistance, and 24-hour urine samples for examination of sodium and iodine intakes. RESULTS: Attendance was 65% (N=21,083), and was higher in women, age group 50-79 years, previous attenders, and Norwegian-born individuals. Cardiovascular risk factor levels and prevalence of chronic obstructive lung disease decreased since the last survey, while the prevalence of obesity and diabetes increased. CONCLUSIONS: Attendance was stable from the sixth survey. Interaction with participants might be key to maintain participation. Favourable trends in risk factors continue, except for a continued increase in obesity. Both new data collection technology and traditional physical examinations will be crucial for the impact of future population studies.

Experienced fatigue in people with rare disorders: a scoping review on characteristics of existing research.

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 review included 215 articles on ten different rare developmental defects/anomalies during embryogenesis and 35 rare genetic diseases. Of the 215 articles, 82 had investigation of experienced fatigue as primary aim or outcome. Included were 9 secondary research articles (reviews) and 206 primary research articles. A minority of articles included children. There were large differences in the number of studies in different diseases. Only 29 of 215 articles gave a description of how they defined the concept of experienced fatigue. The most common research-question reported on was prevalence and/ -or associations to fatigue. The least common was diagnostics (development or validation of fatigue assessment methods for a specific patient group). A large variety of methods were used to investigate experienced fatigue, impeding comparisons both within and across diagnoses. CONCLUSION: This scoping review on the characteristics of fatigue research in rare diseases found a large variety of research on experienced fatigue. However, the minority of studies had investigation of experienced fatigue as a primary aim. There was large variation in how experienced fatigue was defined and also in how it was measured, both within and across diagnoses. More research on experienced fatigue is needed, both in children and adults with rare diseases. This review offers a basis for further research.

Adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome: a cross-sectional study of patient experiences with physical activity.

PURPOSE: To study patient experiences with physical activity among persons with Loeys-Dietz- or vascular Ehlers-Danlos syndrome. MATERIALS AND METHODS: A postal questionnaire survey in 2018. Seventy adults with molecularly verified Loeys-Dietz syndrome types 1-4, or vascular Ehlers-Danlos syndrome recruited through a National Resource Centre for Rare Disorders in Norway. RESULTS: The response rate was 74%, (Loeys-Dietz n = 34, vascular Ehlers-Danlos n = 18), aged 18 to 68 years, 58% women. In total, 88.5% reported they had received advice regarding physical activity and most (77%) had modified their habits. Fifty percent had an appropriate- and 40% a low mean physical activity sum score. Another 10% had too high physical activity levels due to high intensity scores. Lower scores with the Fatigue Severity Scale (p = 0.033) and the anxiety subscale of the Hospital Anxiety and Depression Scale (p = 0.021), were associated with high physical activity levels. About a third reported unmet rehabilitation needs. CONCLUSION: Many adults with Loeys-Dietz- or vascular Ehlers-Danlos syndrome may have a potential to reach more favorable physical activity levels by increasing the frequency and duration of activities. Future directions should include evaluation of effects of professional-led practical and safe physical activity sessions as well as customized multidisciplinary rehabilitation programs for these patient groups.

Adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome: A cross-sectional study of life satisfaction.

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 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 syndrome (n = 34). Low overall satisfaction was significantly associated with severe fatigue (p = 0.002) and symptoms of anxiety (p = 0.001). CONCLUSION: This study provides important information about living with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome. Future studies should identify factors that reduce/increase life satisfaction. Professionals in welfare systems need more information about the unique challenges of living with these diagnoses. Guidelines for research and clinical measurements of life satisfaction should be updated.

Physical exercise for people with hereditable thoracic aortic disease. A study of patient perspectives.

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 rehabilitationPhysical 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.

Physical fitness and activity level in Norwegian adults with achondroplasia.

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.

A scoping review presenting a wide variety of research on paediatric and adolescent patients with Marfan syndrome.

AIM: The present study aimed to map and summarise the research on children, aged 0-18 years, with Marfan syndrome, identify research gaps and point to research agendas. METHODS: A scoping review was systematically performed by searching multiple databases from January 1996 to April 2019. Primary studies presenting results on at least six individuals aged 0-18 years with Marfan syndrome, diagnosed according to the Ghent nosology, were selected. RESULTS: From 2341 de-duplicated records, 92 papers were included, mapped and described. Their topics were diagnostics (12%), cardiovascular matters (50%), skeletal matters (22%), ocular matters (9%), other medical aspects (5%) and psychosocial perspectives (2%). Most studies were from Europe and North America and published between 1999 and 2019 in subject-specific or paediatric journals, while a few were published in genetics journals. All studies had quantitative designs, and very few were multicentre studies. Each study had six to 608 subjects for a total of approximately 5809. CONCLUSION: A wide range of research topics on adolescent and paediatric Marfan syndrome was found, but qualitative studies and a focus on psychosocial matters were lacking. Future investigations addressing noncardiovascular consequences and patient experiences are needed, as well as studies reaffirming or replicating existing intervention study results.

Current knowledge of medical complications in adults with achondroplasia: A scoping review.

This article provides an overview of the current knowledge on medical complications, health characteristics, and psychosocial issues in adults with achondroplasia. We have used a scoping review methodology particularly recommended for mapping and summarizing existing research evidence, and to identify knowledge gaps. The review process was conducted in accordance with the PRISMA-ScR guidelines (Preferred Reporting Items for Systematic reviews and Meta-Analyses Extension for Scoping Reviews). The selection of studies was based on criteria predefined in a review protocol. Twenty-nine publications were included; 2 reviews, and 27 primary studies. Key information such as reference details, study characteristics, topics of interest, main findings and the study author's conclusion are presented in text and tables. Over the past decades, there has only been a slight increase in publications on adults with achondroplasia. The reported morbidity rates and prevalence of medical complications are often based on a few studies where the methodology and representativeness can be questioned. Studies on sleep-related disorders and pregnancy-related complications were lacking. Multicenter natural history studies have recently been initiated. Future studies should report in accordance to methodological reference standards, to strengthen the reliability and generalizability of the findings, and to increase the relevance for implementing in clinical practice.

Adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome: A cross-sectional study of health burden perspectives.

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.

Sodium and Potassium Intake Assessed by Spot and 24-h Urine in the Population-Based Tromsø Study 2015-2016.

Reduction of salt intake is a public health priority and necessitates the surveillance of salt intake in the population. The validity of salt intake assessed by dietary surveys is generally low. We, therefore, aimed to estimate salt intake by 24-h urine collection and to assess the usefulness of spot urine collection for surveillance purposes. In the population-based Tromsø Study 2015-2016, 493 men and women aged 40-69 years collected 24-h urine, of whom 475 also collected spot urine. Sodium and potassium excretions were calculated by multiplying respective urinary concentrations by the total volume of urine. Based on the sodium concentration in spot urine, we also estimated 24-h sodium excretion by three different equations. Mean sodium excretion was 4.09 ± 1.60 and 2.98 ± 1.09 g/24-h in men and women, respectively, corresponding to a calculated salt intake of 10.4 and 7.6 g. The sodium to potassium molar (Na/K) ratio was approximately 1.8 in both genders. Of the three equation utilizing spot urine, estimated mean 24-h sodium excretion was closest for the INTERSALT formulae (4.29 and 2.96 g/24-h in men and women, respectively). In this population-based study, the estimated salt intake was higher than the recommended intake. However, urine potassium excretion was rather high resulting in a favorable Na/K ratio. Mean sodium excretion calculated from spot urine by the INTERSALT equation predicted the mean sodium excretion in 24-h urine reasonably well.

Systematic review of quality of life in persons with hereditary thoracic aortic aneurysm and dissection diagnoses.

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.

Know Your Heart: Rationale, design and conduct of a cross-sectional study of cardiovascular structure, function and risk factors in 4500 men and women aged 35-69 years from two Russian cities, 2015-18.

Russia has one of the highest rates of cardiovascular disease in the world. The International Project on Cardiovascular Disease in Russia (IPCDR) was set up to understand the reasons for this. A substantial component of this study was the Know Your Heart Study devoted to characterising the nature and causes of cardiovascular disease in Russia by conducting large cross-sectional surveys in two Russian cities Novosibirsk and Arkhangelsk. The study population was 4542 men and women aged 35-69 years recruited from the general population. Fieldwork took place between 2015-18. There were two study components: 1) a baseline interview to collect information on socio-demographic characteristics and cardiovascular risk factors, usually conducted at home, and 2) a comprehensive health check at a primary care clinic which included detailed examination of the cardiovascular system. In this paper we describe in detail the rationale for, design and conduct of these studies.

Education and work participation among adults with congenital unilateral upper limb deficiency in Norway: A cross-sectional study.

OBJECTIVES: To describe level of education and work participation among adults with congenital unilateral upper limb deficiency (CUULD) in Norway and to explore associations between work participation and demographic and clinical factors. METHODS: Cross-sectional study. In 2012, a postal questionnaire was sent to 186 persons with congenital limb deficiency (CLD), age ≥ 20 years, registered at the TRS National Resource Center for Rare Disorders. In the original CLD study, 77 persons with CUULD responded. In this paper 64 persons with CUULD of working age (20-67 years) are included. Data on demographic factors as education level and work participation, and clinical factors including limb deficiency characteristics, chronic pain (Standardized Nordic Questionnaire), fatigue (Fatigue Severity Scale), physical and mental health (SF-36) were analyzed through descriptive and comparable statistics and logistic regression analyses. RESULTS: Sixty-four persons participated, mean age 43.4 (SD 13.7; range 20-67 years), 45 were women. Education level >13 years was reported by 34. Forty- three of the 64 participants were employed, 21 were prematurely retired (disability benefits). 11 of the 43 employed, and 6 of the 21 prematurely retired had completed vocational education. Physically demanding occupations (work activities that required standing, walking and lifting) were reported by 25 of the 43 employed and 13 of the 21 prematurely retired. 17 of the 64 reported need for further adaptions in their workplaces. The strongest predictors of work participation were younger age (OR 0.86) and good physical health (OR 1.21). CONCLUSION: Two thirds of persons with CUULD were employed; while one third was prematurely retired and had left work earlier than expected. This suggests that persons with CUULD may experience challenges in work participation. Although levels of education were relatively high, several had chosen careers that required physical strain. Younger age and good physical health were the most important factors mediating work participation.

Chronic pain and fatigue in adults with congenital unilateral upper limb deficiency in Norway. A cross-sectional study.

PURPOSE: To describe Norwegian adults with congenital unilateral upper limb deficiency (CUULD) regarding self-reported chronic pain (intensity, locations, impact on daily life) and fatigue. Analyze associations between chronic pain and demographic/clinical factors and associations between fatigue and demographic/ clinical factors. MATERIALS AND METHODS: Cross-sectional study. In 2012, a postal questionnaire was sent to 186 persons with congenital limb deficiency, age ≥ 20 years. Seventy seven persons with CUULD responded and are included in this paper. The questionnaire included questions on demographic and clinical factors, chronic pain (Brief Pain Inventory, Standardized Nordic Questionnaire) and fatigue (Fatigue severity scale (FSS)). RESULTS: Mean age was 42.7 (SD 16.0), 71% were women. Sixty tree % reported chronic pain, many had bilateral pain, most common pain locations were neck (78%) and shoulder/upper arm (78%). However, reported mean pain intensity (3.3 (SD 2.8)) and mean number of pain locations (3.0 (SD 2.5)) were moderate to low. Thirty seven persons reported that pain started in adult age (≥ 19 years). One third reported severe fatigue (FSS ≥ 5). Persons reporting cold sensitivity and severe fatigue were most likely to have chronic pain. CONCLUSIONS: Congenital upper limb deficiency increases the risk of self-reported pain in neck, shoulder/upper arm, cold sensitivity and severe fatigue. Pain, fatigue and cold sensitivity may individually affect function, and may together reinforce functional problems. This should be to taken into account when rehabilitation programs are developed. Further studies of more representative samples should be conducted to confirm our findings.

Health-related quality of life in adults with congenital unilateral upper limb deficiency in Norway. A cross-sectional study.

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.

Children with congenital limb deficiency in Norway: issues related to school life and health-related quality of life. A cross-sectional study.

PURPOSE: To describe clinical features, issues related to school life and health-related quality of life (HRQOL) for children with congenital limb deficiency (CLD) and compare these children to Norwegian school children on HRQOL. METHOD: Cross-sectional study. In 2010, a postal questionnaire, designed for this study and the Paediatric Quality of Life Inventory (PedsQL), was sent to 154 eligible parents of children with CLD, aged 6-18 years and registered at TRS National Resource Centre for Rare Disorders in Norway. RESULTS: Response rate 44% (n = 67), median age 11 years, 42% were girls. Of the total group, 46 had unilateral upper limb deficiency (UULD) and 21 had multiple/lower limb deficiency (MLD/LLD). The most common UULD was below-elbow deficiency, of these, 65% used grip-improving devices, and 35% used prostheses. Children with UULD-reported PedsQL score similar to Norwegian schoolchildren (NSC). The MLD/LLD group was heterogeneous; most had below-elbow/knee deficiency. In this group, PedsQL scores were reduced for physical and social functioning compared with NSC. Compared with children with UULD, more children with MLD/LLD were restricted in participation because of pain and fewer participated in physical education with peers. CONCLUSIONS: Most children with CLD participated with their peers and managed well in everyday life. Children with MLD/LLD seemed to have more challenges than children with UULD. Approximately one-third of all the children had assistive devices and/or practical assistance in school. Implications for Rehabilitation Most children with upper-limb deficiency (UULD) in Norway manage well in everyday life and have HRQOL equal to other Norwegian children. Many choose grip-improving devices instead of prostheses. Their preferences should be respected and taken into account as the need for new assistive devices arise. For children with pronounced disabilities, access to, and use of, assistive devices, adaptions and practical assistance may be important for participation. Cooperation with the child and the parents is necessary to find useful measures. Physical education and practical subjects may provide special challenges, both for children and their teachers. Children themselves often find good solutions and the tasks should be planned ahead in cooperation with them.

Adults with congenital limb deficiency in Norway: demographic and clinical features, pain and the use of health care and welfare services. A cross-sectional study.

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.