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.

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.

Patient involvement in rare diseases research: a scoping review of the literature and mixed method evaluation of Norwegian researchers' experiences and perceptions.

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.

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.

Multidisciplinary aortopathy clinics: A systematic scoping review of the literature and evaluation of patient experiences from a newly started clinic in Norway.

Background: International guidelines recommend hereditary thoracic aortic diseases (HTADs) to be managed in multidisciplinary aorta clinics.

Aim: To study HTAD patient's experiences with a aortopathy clinic in Norway and to review the literature on aortopathy clinics.

Methods: (a) A systematic scoping review of research on multidisciplinary clinics for HTADs.

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.

Fatigue and pain in children and adults with multiple osteochondromas in Norway, a cross-sectional study.

Background: Multiple Osteochondromas (MO) is a rare skeletal disorder frequently needing orthopaedic surgery. High prevalence of pain has been reported, however fatigue has not previously been investigated.

Purpose: Our aims were to investigate prevalence of fatigue and pain in Norwegian children and adults with MO.

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.

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.

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.

Satisfaction with life in adults with Marfan syndrome (MFS): associations with health-related consequences of MFS, pain, fatigue, and demographic factors.

Purpose: The objective with this study was to explore satisfaction with life (SWL) among adults with Marfan syndrome (MFS) compared to the general Norwegian population and other patient groups and further to examine the associations between SWL and demographic factors, contact with social and health services, MFS-related health problems, chronic pain, and fatigue.

Methods: This is a cross-sectional study with postal questionnaire, including the Satisfaction with Life Scale (SWLS), questions on demographic factors, health-related aspects of MFS, and validated instruments measuring chronic pain (Standardized Nordic Questionnaire) and fatigue (Fatigue Severity Scale). One hundred and seventeen adults with MFS were invited to participate, and 73 (62 %) participated.

Work participation in adults with Marfan syndrome: Demographic characteristics, MFS related health symptoms, chronic pain, and fatigue.

Marfan syndrome (MFS) is a severe autosomal dominant connective tissue disorder that might influence peoples work ability. This cross sectional study aims to investigate work participation in adults with verified MFS diagnosis and to explore how the health related consequences of MFS and other factors might influence work participation. The prevalence of health problems in young adults compared to older adults with MFS was examined in association to work participation.

Fatigue in adults with Marfan syndrome, occurrence and associations to pain and other factors.

This study aims to investigate how fatigue affects adults with verified Marfan syndrome (MFS) in their daily lives, by examining fatigue levels and prevalence of severe fatigue compared to the general Norwegian population and individuals with other comparable chronic conditions. We investigated associations between socio-demographic characteristics, Marfan-related health problems, pain and fatigue. A cross-sectional study was conducted, using a postal questionnaire including the Fatigue Severity Scale (FSS) and questions on socio-demographic characteristics, Marfan-related health problems and pain.

Multidisciplinary treatment of disability in ehlers-danlos syndrome hypermobility type/hypermobility syndrome: A pilot study using a combination of physical and cognitive-behavioral therapy on 12 women.

Ehlers-Danlos Syndrome hypermobility type (EDS-HT) and joint hypermobility syndrome (JHS) are two overlapping heritable connective tissue disorders. Patients with these conditions have many and various complaints; limitations in performing daily activities, reduced muscle strength and proprioception, kinesiophobia, and pain. There is a lack of evidence-based treatment approaches; a few studies have shown effect of physiotherapy.