Heidi Johansen

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 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.

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 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.

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.

To study patient experiences with physical activity among persons with Loeys-Dietz- or vascular Ehlers-Danlos syndrome. A postal questionnaire survey in 2018. Seventy adults with molecularly verifi...

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.

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. 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. 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). 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.

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. 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)). 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. 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.

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.

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.