Social media use by patients with hypermobile Ehlers-Danlos syndrome.

BACKGROUND: Patients with uncommon genetic conditions often face limited in-person resources for social and informational support. Hypermobile Ehlers-Danlos syndrome (hEDS) is a rare or underdiagnosed hereditary disorder of the connective tissue, and like those with similar diseases, patients with hEDS have begun to turn to social media in search of care and community. The aims of our study were to understand the usage habits and perceptions of utility of social media use for patients with hEDS in order to formulate suggestions for how clinicians may best engage these and similar patient populations about this topic. METHODS: We conducted both a quantitative survey and qualitative interviews with patients who had received a robust clinical diagnosis of hEDS. RESULTS: Twenty-four individuals completed the initial survey, and a subset of 21 of those participants completed an interview. Through thematic analysis, we identified four primary themes related to their experience with social media: (1) befriending others with their disease, (2) seeking and vetting information, (3) the risks and downsides of social media use, and (4) the desire for clinicians to discuss this topic with them. CONCLUSION: We conclude by proposing five suggestions that emerge empirically from our data. These proposals will help clinicians engage their patients regarding social media use in order to promote its potential benefits and circumvent its potential harms as they pursue support for their hereditary condition.

Patient experiences of receiving a diagnosis of hypermobile Ehlers-Danlos syndrome.

Hypermobile Ehlers-Danlos syndrome (hEDS) presents with a wide range of clinical symptoms and comorbidities that impact quality of life. The diagnosis is challenging and often delayed due to the heterogeneity of the disease and lack of diagnostic biomarkers, which adds to the disease burden by affecting patients' psychosocial adaptation and overall well-being. Previous studies have revealed that healthcare professionals and the public have a limited understanding and familiarity with the condition, which leads to disapproval and skepticism that greatly impact patients' social spheres and welfare. While physical manifestations have been widely discussed, the psychosocial impact and the importance of receiving a diagnosis have not been fully studied in the current literature. This survey study investigated the impact of diagnosis in hEDS patients, selected from the University of Miami's hEDS registry. Survey questions were formulated based on clinical expertise and literature review. Descriptive statistics, Mann-Whitney test, and Spearman's correlation were used for data analysis. The median age at symptom presentation was 10 years, with a median gap of 4 years before the initial medical evaluation. On average, it took 10 years to receive a diagnosis of hEDS. Nearly all participants (95.2%) expressed receiving a diagnosis as "important" or "highly important," with 81.9% agreeing that it helped them cope with their condition better, 76.8% could better manage their symptoms, and felt more in control of their long-term care. Participants mostly had a positive emotional reaction and experienced an improvement in the support they were receiving from their caregivers and healthcare providers after receiving a diagnosis of hEDS. This study demonstrates that receiving a diagnosis could positively impact the patient's support, quality of care, and overall well-being.

Interdisciplinary pain rehabilitation for patients with Ehlers-Danlos syndrome and hypermobility spectrum disorders.

OBJECTIVE: Chronic pain is a common manifestation of Ehlers-Danlos syndrome and hypermobility spectrum disorders; thus it is often suggested that patients undergo generic interdisciplinary pain rehabilitation, despite there being little evidence to support this decision. The aim of this study is to examine the effectiveness of standard rehabilitation programmes for chronic pain on patients with Ehlers-Danlos syndrome and hypermobility spectrum disorders, compared with patients with other chronic pain disorders. SUBJECTS: Data, collected between 2008 and 2016, were extracted from a Swedish national registry. The patient data comprised of 406 cases with Ehlers-Danlos syndrome or hypermobility spectrum disorders, 784 cases with a whiplash-related diagnosis, 3713 cases with diagnoses relating to spinal pain, and 2880 cases of fibromyalgia. METHODS: The differences between groups on key outcome measures from pre- to 1-year follow-up after interdisciplinary pain rehabilitation were analysed using linear mixed effects models. Sensitivity analysis in the form of pattern-mixture modelling was conducted to discern the impact of missing data. RESULTS: No significant differences were found in improvements from pre- to 1-year follow-up for patients with Ehlers-Danlos syndrome or hypermobility spectrum disorder compared with other diagnostic groups regarding measures of health-related quality of life, mental health, or fatigue. At follow-up, differences in pain interference (d = -0.34 (95% confidence interval [95% CI] -0.5 to -0.18)), average pain (d = 0.22 (95% CI 0.11-0.62)) and physical functioning (d = 2.19 (95% CI 1.61-2.77)) were detected for the group with spinal-related diagnoses in relation to those with EDS/HSD, largely due to pre-treatment group differences. Sensitivity analysis found little evidence for missing data influencing the results. CONCLUSION: This study suggests that patients with Ehlers-Danlos syndrome/hypermobility spectrum disorders may benefit from inclusion in an interdisciplinary pain rehabilitation programme.

Exploring the biopsychosocial impact of hypermobility spectrum disorders and Ehlers-Danlos syndrome in an adult population: a protocol for a scoping review.

BACKGROUND: Conditions such as hypermobility spectrum disorders (HSD) and Ehlers-Danlos syndrome (EDS) are most often diagnosed when an individual has joint flexibility beyond the normal physiological limits. Additional characteristics and symptoms include pain and fatigue with individuals also being more likely to report feelings of anxiety and depression. Due to the varied presentation of these conditions, there is a lack of understanding amongst the various healthcare professionals (HCPs) individuals present to, leading to delayed diagnoses and negative experiences for the individuals themselves. This scoping review therefore aims to map the known biopsychosocial impact of adults with HSD and EDS. METHODS: The scoping review will follow the six-step framework as outlined by Arskey and O'Malley and the Preferred Reporting Items for Systematic Reviews and Meta-Analyses for Scoping Reviews (PRISMA-ScR) checklist. The search will be conducted using the following databases: AMED, CINAHL, Cochrane Library, Embase, MEDLINE, PsycINFO, PubMed PEDro. Full-text published articles in the English language (excluding literature and systematic reviews) with adult samples (over the age of 18 years) and a diagnosis of a HSD or EDS, published between 2012 and 2022, will be included in the review. DISCUSSION: This review will aim to explore the existing literature for the reported biopsychosocial impact of adults with a HSD or EDS. It will also aim to further acknowledge the gaps in understanding of the condition, how the condition and the impact of the condition is being measured and what HCPs are involved in supporting such individuals. These gaps will be used to inform a future systematic review. It is the overall goal to increase the knowledge of HCPs and the quality of life of adults living with a joint hypermobility condition.

Psychological interventions to improve pain, fatigue, anxiety, depression, and quality of life in children and adults with hypermobility spectrum disorders and Ehlers-Danlos syndrome: a systematic review.

Hypermobility spectrum disorders (HSD) affect individuals across physical, psychological and social domains, making assessment and management difficult. Management for this condition primarily focuses on addressing the musculoskeletal complaints using physiotherapy rather than the additional manifestations such as fatigue, anxiety and depression. This systematic review aims to identify psychological interventions and assess whether they improve the lived experiences of individuals with HSD. It also aims to assess which psychological interventions were most effective, which symptoms were most effectively managed by a psychological intervention, and whether there were differences between children and adults. Studies were included if they were a randomised controlled trial or pre/post-test design, a sample of any age and clinical diagnosis of HSD (including Ehlers-Danlos syndrome), used a psychological intervention and assessed the effect of the intervention on lived experiences using appropriate outcome measures. Risk of bias was assessed using the Mixed Methods Appraisal Tool. The results were narratively synthesised. Six studies were included in the review, one isolated psychological intervention and five incorporated a psychological intervention within a multidisciplinary programme. The interventions predominantly aimed to reduce pain including intensity, interference, pain-related fear and catastrophising, with anxiety and depression, affect, daily living, fatigue also being evaluated. The most beneficial psychological interventions were those delivered alongside physiotherapy in an outpatient or community setting, improving both the physical and psychological aspects of pain, subsequently improving quality of life. However, there lacks randomised controlled trials with larger samples to definitively confirm the significant findings discussed in this review.

Clinical characteristics of patients with hypermobile type Ehlers-Danlos syndrome (hEDS) and generalized hypermobility spectrum disorders (G-HSD): an online survey.

To examine the perspective of individuals with Hypermobile Ehlers-Danlos Syndrome (hEDS) and Generalized Hypermobility Spectrum Disorder (G-HSD), needed to help identify priorities and improve the lives of people living with these conditions. We conducted an online survey between November 2021 and January 2023. Participants were recruited through the Ehlers-Danlos Society's Research Surveys website. We obtained 483 responses and 396 were analyzed. 80% of the survey's respondents were individuals with hEDS, 90% were females, 30% were between 21 and 30, and 76% lived in North America, with 85% of the participants living in North America indicated being White or European American. Participants reported exercising from none to less than three times per week, with no physical therapy treatment. Ninety-eight percent of participants reported pain mainly at the neck (76%), lower (76%) and upper back (66%), knees (64%), shoulders (60%), and hips (60%). Approximately 80% of participants reported fatigue, joint hypermobility, joint instability, interference with daily activities, gastrointestinal problems, orthostatic hypotension, muscle weakness, and emotional distress. About 60% of respondents indicated walking issues, balance issues, and reduced joint proprioception. Nearly 40% of participants reported pelvic floor dysfunction and cardiovascular problems. Participants with hEDS and G-HSD reported pain on an average (SD) of 6.4 (± 1.3) and 5.9 (± 1.5) days in a typical week, respectively. People with hEDS and G-HSD desperately need more effective treatment options, a better diagnostic process, and education among health care providers.

The psychological burden associated with Ehlers-Danlos syndromes: a systematic review.

CONTEXT: Ehlers-Danlos syndromes (EDS) are disorders of connective tissue that lead to a wide range of clinical presentations. While we are beginning to understand the association between EDS and psychological manifestations, it is critical that we further elucidate the relationship between the two. Understanding the correlation between EDS and mental health will better ensure swift diagnosis and effective treatment for patients. OBJECTIVES: This study aims to systematically examine and report the prevalence of psychiatric disorders in the EDS population. METHODS: The PubMed database was searched on June 14, 2021 for articles published from January 2011 to June 2021. We included original, evidence-based, peer-reviewed journal articles in English that reported information on psychiatric disorders among EDS patients. Psychiatric disorders and psychological conditions were limited to those included in the "psychology" and "mental disorders" Medical Subject Headings (MeSH) search terms defined by the National Library of Medicine. Publications identified utilizing this search strategy by M.K. were imported into the Covidence system, where they first underwent a title and abstract screening process by three independent reviewers (M.K., K.L., H.G.). During the full-text review, two independent reviewers read the full text of the questionable articles to assess their eligibility for inclusion. Studies were excluded if they did not meet our target objective or if they were not in English or if they were opinion pieces, conference abstracts, or review articles. Data were extracted from the shortlisted studies by reviewers. During the data extraction phase, the quality and risk of publication bias were assessed by two independent reviewers utilizing the National Institutes of Health (NIH) Study Quality Assessment Tools. Any disagreements in study selection, data extraction, or quality assessment were adjudicated via discussion between the two reviewers, utilizing a third reviewer as a decider if necessary. RESULTS: Out of 73 articles identified, there were no duplicates. A total of 73 records were screened, but only 40 articles were assessed in full text for eligibility. A total of 23 articles were ultimately included, which collectively discussed 12,298 participants. Ten (43.5%) of the included studies were cross-sectional in design, three (13.0%) were case reports, and three (13.0%) were retrospective chart reviews. The remaining seven (30.4%) articles were either case-control, cohort, qualitative, controlled observational, or validation studies. Twelve (52.2%) of the studies reported data on depression disorders, six of which reported prevalence data. Nine (39.1%) of the studies reported data on anxiety disorders, five of which reported prevalence data. Studies that reported nonprevalence data presented odds-ratio, mean scores on psychiatric evaluations, and other correlation statistics. Psychiatric disorders that were most reported in these articles were mood disorders (n=11), anxiety disorders (n=9), and neurodevelopmental disorders (n=7). Although the reports varied, the highest psychiatric prevalence reports in EDS patients involved language disorders (63.2%), attention-deficit/hyperactivity disorder (ADHD) (52.4%), anxiety (51.2%), learning disabilities (42.4%), and depression (30.2%). CONCLUSIONS: Although mood disorders were cited in more articles, the highest reported prevalence was for language disorders and ADHD. This discrepancy highlights the importance of performing more research to better understand the relationship between EDS and psychiatric disorders.

Interoceptive attention regulation in Ehlers-Danlos syndromes: associations between pain and psychiatric symptom severity.

High rates of comorbid chronic pain, anxiety, and mood disorders among individuals with the Ehlers-Danlos syndromes (EDS+) are becoming increasingly recognized, though this complex symptomology remains poorly understood and undertreated. The current project examined whether interoceptive attention regulation is protective against depressive and anxiety symptoms in individuals with suspected EDS+. Data were collected from individuals participating in a transdisciplinary diagnostic visit within an EDS+ specialty consultation clinic. Participants were included in the current analyses (n = 49) if they had complete data on the following measures: the PHQ-8, the GAD-7, the Pain Severity subscale from the West Haven-Yale Multidimensional Pain Inventory, and the Attention Regulation subscale from the Multidimensional Assessment of Interoceptive Awareness. Consistent with expectations, the sample showed high levels of clinically significant anxiety and depressive symptoms. Pain severity ratings were significantly correlated with depressive but not anxiety severity. Moreover, higher levels of perceived interoceptive attention regulation abilities were significantly associated with less severe anxiety and depressive symptoms; however, attention regulation did not moderate the associations of pain with anxiety and depressive symptom severity. CONCLUSIONS: The current project replicated recent findings that pain, anxiety, and depression are common in individuals with EDS+. The ability to focus and control somatic attention appears to be protective and a potential target for interventions in EDS+.

Psychosocial Influence of Ehlers-Danlos Syndrome in Daily Life of Patients: A Qualitative Study.

(1) Background: Ehlers-Danlos syndrome is a heterogeneous group of connective tissue disorders causing pain, fatigue, and disabilities; it has several implications for patients who suffer from this disease. The major clinical manifestations of EDS include joint hypermobility, skin hyperextensibility, and generalized connective tissue fragility. This research aims to explore their perceptions and experiences about the phycological and social spheres. (2) Methods: Semistructured interviews were carried out. Participants were encouraged to talk about issues related to their disease by asking open-ended questions in one to one interview. The interview guide included questions to identify the syndrome's influence on the social and psychological life of patients All interviews were audio recorded, fully transcribed, and analyzed using the phenomenological theoretical framework. The method of analysis was the thematic interpreting of perspectives and approaches. (3) Results: 31 individuals were proposed to participate in this study. Five patients refused to participate, so a total of 26 interviews were performed. Six themes ((1) Pain and its consequences on a daily basis; (2) The need to name the problem: the diagnosis; (3) Restructuring leisure and social relationships; (4) Limitations due to economic conditions; (5) Psychological impact of the disease situation; (6) Professional limitations) and four subthemes ((1) The value of partner support; (2) The weather influence on social plans; (3) Physical exercise and illness; (4) Support groups) emerged from the data. (4) Conclusions: This study revealed the impact of the syndrome on the social and daily life of patients, and not only in a physical level, but also in a psychological and social approach. These findings allow healthcare providers to know more about this disease in order to support and give advice to patients about the changes they will have to make.

Assessment of the Information Sources and Interest in Research Collaboration Among Individuals with Vascular Ehlers-Danlos Syndrome.

BACKGROUND: Patient-centered research requires active engagement of patients. The vascular Ehlers-Danlos Syndrome (vEDS) research collaborative was established to ascertain patient-centered vEDS research priorities and to engage affected individuals as research partners. Evaluation of access to information and interest in research among individuals with vEDS was the first step undertaken as part of this work. METHODS: A 28-question survey was created to evaluate 4 domains of interest: diagnostic and clinical care history, vEDS experience, information resources, and willingness to collaborate with researchers. The survey was created in REDCap™ and disseminated between January and April 2018 via the vEDS social media pages, blogs, and advocacy Web sites. Results were collated and described. A single open-ended question yielded additional narrative data, which were analyzed qualitatively. RESULTS: Of the 300 responses, 228 (76%) were completed on behalf of oneself. The vEDS diagnosis was confirmed by genetic testing for 85% of respondents. When asked "Did a physician explain vEDS to you and how to manage it?" 25% answered no. Most had a primary care provider (65%), cardiologist (56%), and vascular surgeon (52%). Only 32% had a local vascular surgeon. The most commonly reported frustration was no cure/treatment available and the emergency rooms do not know what VEDS is (64.5% and 61.8%, respectively). The Internet was the most useful information source (62.3%) followed by a geneticist (18.4%). Most (87.7%) are willing to share their medical records for research studies (87.7%) and wished to be contacted about future studies (83.8%); however, only 65.4% would be willing to upload medical records via a secure confidential Web application. The most common reason for interest in research partnership was to advance research for a treatment/cure (83.8%) and helping others learn from their experiences (82.9%). The qualitative analysis provided additional insights into the patient experience living with vEDS. CONCLUSIONS: Among individuals with vEDS, there is substantial frustration with the lack of treatment, lack of knowledge among health care providers, and a high degree of interest in research involvement. The survey highlights an opportunity to discuss the optimal modality for research participation and methodologies for building trust in the research teams. The methodology lessons learned can also be applied to other rare vascular diseases.

Hypomorphic zebrafish models mimic the musculoskeletal phenotype of ß4GalT7-deficient Ehlers-Danlos syndrome.

ß4GalT7 is a transmembrane Golgi enzyme, encoded by B4GALT7, that plays a pivotal role in the proteoglycan linker region formation during proteoglycan biosynthesis. Defects in this enzyme give rise to a rare autosomal recessive form of Ehlers-Danlos syndrome (EDS), currently known as 'spondylodysplastic EDS (spEDS-B4GALT7)'. This EDS subtype is mainly characterized by short stature, hypotonia and skeletal abnormalities, thereby illustrating its pleiotropic importance during human development. Insights into the pathogenic mechanisms underlying this disabling disease are very limited, in part due to the lack of a relevant in vivo model. As the majority of mutations identified in patients with spEDS-B4GALT7 are hypomorphic, we generated zebrafish models with partial loss of B4galt7 function, including different knockdown (morphant) and mosaic knockout (crispant) b4galt7 zebrafish models and studied the morphologic, functional and molecular aspects in embryonic and larval stages. Morphant and crispant zebrafish show highly similar morphological abnormalities in early development including a small, round head, bowed pectoral fins, short body-axis and mild developmental delay. Several craniofacial cartilage and bone structures are absent or strongly misshapen. In addition, the total amount of sulfated glycosaminoglycans is significantly diminished and particularly heparan and chondroitin sulfate proteoglycan levels are greatly reduced. We also show impaired cartilage patterning and loss of chondrocyte organization in a cartilage-specific Tg(Col2a1aBAC:mcherry) zebrafish reporter line. The occurrence of the same abnormalities in the different models confirms these are specifically caused by B4galt7 deficiency. A disturbed actin pattern, along with a lack of muscle tone, was only noted in morphants in which translation of b4galt7 was blocked. In conclusion, we generated the first viable animal models for spEDS-B4GALT7, and show that in early development the human spEDS-B4GALT7 phenotype is faithfully mimicked in these zebrafish models. Our findings underscore a key role for ß4GalT7 in early development of cartilage, bone and muscle. These models will lead to a better understanding of spEDS-B4GALT7 and can be used in future efforts focusing on therapeutic applications.

Flexible bodies-Restricted lives: A qualitative exploratory study of embodiment in living with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

PURPOSE: The aim of this study was to explore embodiment as a meaning-making experience in the daily life of Norwegian adults living with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type (JHS/EDS-HT). The work of Drew Leder and his distinction between bodily dis- and dys-appearance contributes to the description and analysis of individuals' bodily experiences of living with this chronic illness. METHODS: An explorative and qualitative design was applied to in-depth interviews with seven participants. The theoretical framework was phenomenological, and the method of analysis was thematic, involving descriptive and interpretative approaches. RESULTS: Participants' bodily experiences were closely connected to a timeline viewing their illness in the past, the present and from future perspectives. The following central themes emerged from the data: (a) visible to invisible signs of a former body; (b) standing up and falling down of a present body; and (b) future thoughts of an inner and outer body. CONCLUSIONS: The study found that living with JHS/EDS-HT revealed complex experiences of having flexible bodies and restricted lives. Our findings also showed a meaning-making process of embodied experiences that evolved over time, as well as a sliding transition from social to personal dys-appearance. In the course of time, a bodily disruptions in social interactions comes to the fore, with invisible symptoms such as pain and fatigue. Individual bodily suffering determines the existence of hope or hopelessness regarding recovery from this condition.

Pain in hypermobile Ehlers-Danlos syndrome: New insights using new criteria.

Features of the pain in hypermobile Ehlers-Danlos syndrome (hEDS) are complex and insufficiently known by clinicians. We enrolled 37 hEDS patients. Disease status was ascertained using revised 2017 International Classification criteria, in the EDS French National Reference Center. Patients were evaluated with a clinical examination, quantitative sensory testing, and validated questionnaires. Thirty-seven patients were evaluated. Pain had appeared at 10 ± 5 years old and became chronic at 20 ± 9 years old. hEDS was diagnosed at only 24 ± 10 years old. Ninety-seven percent of them had severe chronic pain, which gradually increased over time in 75% of them. The main location of pain was in joints and predominated in lower limbs. Patients with a generalized presentation of pain had older chronic pain and a higher impact on the affective component. Neuropathic pain was frequent in the most painful joint and associated with heat hypoesthesia. An asymmetric proprioception was found in one third of the patients. A very high rate of attempted suicide was observed. To conclude, pain in hEDS is severe, chronic, and disabling. Sensorial and proprioceptive sensibilities are also affected. Peripheral neuropathic pain is frequent and central sensitization appears to be a key step in the evolution of disease.

Pain and gastrointestinal dysfunction are significant associations with psychiatric disorders in patients with Ehlers-Danlos syndrome and hypermobility spectrum disorders: a retrospective study.

In this retrospective study, we investigate the frequency and types of psychiatric disorders and their relationship to systemic manifestations in a cohort of 391 Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorder (HSD) patients based on the current 2017 International Classification of EDS diagnostic criteria. A detailed, systematic retrospective chart review was undertaken for patients assessed for HSD or EDS at two Canadian health centres. Patients were diagnosed according to the Villefranche criteria and reclassified for this study according to the 2017 International Classification of EDS. Data validation and statistical analyses were conducted. Psychiatric disorders were very common, with 49.4% of the total cohort affected; 28.9% reported multiple psychiatric diagnoses. Mood (34.5%) and somatoform (28.6%) disorders were most common. Interestingly, attention-deficit/hyperactivity disorder (ADHD) was significantly enriched in the HSD, but not EDS cohort (p = 0.0002, 95% CI 3.48-9.00) compared to the general population. There were no differences in the systemic associations with having psychiatric manifestations in the HSD compared to the EDS subsets. Muscle/body pain (OR 1.99) and gastrointestinal dysfunction (OR 2.07) were significantly associated with having mood disorders, and gastrointestinal dysfunction (OR 2.61) and nerve-related pain (OR 3.27) were associated with having somatoform disorders across the cohort. The common systemic associations with the presence of psychiatric manifestations in both HSD and EDS reaffirm that the conditions should be treated as a spectrum rather than as wholly separate entities, particularly with respect to psychiatric management. EDS and HSD patients share common psychiatric presentations, though ADHD is more common with HSD.

Subjective health complaints and illness perception amongst adults with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-HypermobilityType - a cross-sectional study.

OBJECTIVE: To investigate the prevalence and severity of subjective health complaints and describe illness perception in a population of Joint Hypermobility Syndrome or Ehlers-Danlos Syndrome-Hypermobile Type. METHOD: This study was a postal survey with a questionnaire battery on demographic data, subjective health complaints inventory, and illness perception. A total of 110 individuals diagnosed with Joint Hypermobility Syndrome or Ehlers-Danlos Syndrome-Hypermobile Type from two specialized hospitals in Norway were offered participation. Further, 140 gender- and age-matched healthy controls from statistics Norway representing the general population were sent the questionnaire for reference. RESULTS: Overall response rate was 30.4% (n = 76), with 44.5% (n = 49) in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobile Type and 19.3% (n = 27) in controls. Subjective health complaints were significantly higher in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobile Type - than in the controls (32.06 vs. 11.08; p < 0.001). Further the brief illness perception questionnaire indicated that the adults with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobile Type had low understanding of their illness and symptoms (understanding, mean: 3.93, SD 2.88), and reported to have moderate personal and treatment control over their illness. CONCLUSION: Adults with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobile Type reported higher frequency and severity of subjective health complaints than the matched controls from the general adult population in Norway. Furthermore, Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobile Type reported low understanding of their illness and associated symptoms, and moderate belief that their illness can be kept under control through self-management or treatment. This may indicate one of the reasons why prognosis for these patients is poor. Implications for rehabilitation Awareness of the complexity of the subjective health complaints and inquiry into illness perception could contribute with valuable information about these patients' perceptions of their condition. Such information could in its turn be of value for clinicians as they work towards facilitating a more holistic treatment approach, for example patient education and cognitive behavioural therapy.

Cognitive, emotional, and behavioral considerations for chronic pain management in the Ehlers-Danlos syndrome hypermobility-type: a narrative review.

BACKGROUND: Ehlers-Danlos syndrome (EDS) hypermobility-type is the most common hereditary disorder of the connective tissue. The tissue fragility characteristic of this condition leads to multi-systemic symptoms in which pain, often severe, chronic, and disabling, is the most experienced. Clinical observations suggest that the complex patient with EDS hypermobility-type is refractory toward several biomedical and physical approaches. In this context and in accordance with the contemporary conceptualization of pain (biopsychosocial perspective), the identification of psychological aspects involved in the pain experience can be useful to improve interventions for this under-recognized pathology. PURPOSE: Review of the literature on joint hypermobility and EDS hypermobility-type concerning psychological factors linked to pain chronicity and disability. METHODS: A comprehensive search was performed using scientific online databases and references lists, encompassing publications reporting quantitative and qualitative research as well as unpublished literature. RESULTS: Despite scarce research, psychological factors associated with EDS hypermobility-type that potentially affect pain chronicity and disability were identified. These are cognitive problems and attention to body sensations, negative emotions, and unhealthy patterns of activity (hypo/hyperactivity). CONCLUSIONS: As in other chronic pain conditions, these aspects should be more explored in EDS hypermobility-type, and integrated into chronic pain prevention and management programs. Implications for Rehabilitation Clinicians should be aware that joint hypermobility may be associated with other health problems, and in its presence suspect a heritable disorder of connective tissue such as the Ehlers-Danlos syndrome (EDS) hypermobility-type, in which chronic pain is one of the most frequent and invalidating symptoms. It is necessary to explore the psychosocial functioning of patients as part of the overall chronic pain management in the EDS hypermobility-type, especially when they do not respond to biomedical approaches as psychological factors may be operating against rehabilitation. Further research on the psychological factors linked to pain chronicity and disability in the EDS hypermobility-type is needed.

Exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type.

PURPOSE: To explore exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type and to explore patient experiences of physiotherapy. METHODS: A cross sectional questionnaire survey design was used to collect quantitative and qualitative data from adult members of the Hypermobility Syndromes Association and Ehlers-Danlos Syndrome Support UK. Descriptive and inferential statistics were used to analyse the data. Qualitative data was analysed thematically. RESULTS: 946 questionnaires were returned and analysed. Participants who received exercise advice from a physiotherapist were 1.75 more likely to report high volumes of weekly exercise (odds ratio [OR] = 1.75, 95% confidence interval [CI] = 1.30-2.36, p < 0.001) than those with no advice. Participants who believed that exercise is important for long-term management were 2.76 times more likely to report a high volume of weekly exercise compared to the participants who did not hold this belief (OR = 2.76, 95% CI = 1.38-5.50, p = 0.004). Three themes emerged regarding experience of physiotherapy; physiotherapist as a partner, communication - knowledge, experience and safety. CONCLUSION: Pain, fatigue and fear are common barriers to exercise. Advice from a physiotherapist and beliefs about the benefits of exercise influenced the reported exercise behaviours of individuals with Ehlers-Danlos syndrome - hypermobility type in this survey. Implications for rehabilitation Exercise is a cornerstone of treatment for Ehlers-Danlos syndrome/Ehlers-Danlos syndrome - hypermobility type. Pain, fatigue and fear of injury are frequently reported barriers to exercise. Advice from physiotherapists may significantly influence exercise behaviour. Physiotherapists with condition specific knowledge and good verbal and non-verbal communication facilitate a positive therapeutic experience.

Italian validation of the functional difficulties questionnaire (FDQ-9) and its correlation with major determinants of quality of life in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder.

The 2017 nosology defines the new criteria for hypermobile Ehlers-Danlos syndrome (hEDS), which is now considered one end of a continuous spectrum encompassing isolated, nonsyndromic joint hypermobility (JH) and hypermobility spectrum disorders (HSDs). Preliminary data indicate a link between JH and neurodevelopmental disorders and, in particular, developmental coordination disorder (DCD) in children. Assessing DCD in adults is difficult and the recently described functional difficulties questionnaire 9 (FDQ-9) is one of the few available tools. The aims of this study are to (a) validate FDQ-9 written in Italian and present normal values in 230 Italian controls; (b) explore the relationship of FDQ-9 with the brief pain inventory, composite autonomic symptom score 31, multidimensional fatigue inventory, attention deficit/hyperactivity disorder self-report version 1.1, and the SF-36 for quality of life in 105 Italian adults with hEDS/HSD. Validation of the FDQ-9 in Italian was carried out by translation, cross-cultural adaptation and test/retest reliability analysis. A case-control study was performed comparing the FDQ-9 outcome between 105 patients and 105 sex- and age-matched controls. Fifty-nine percent of the patients resulted positive compared to the 3.8% of controls (p value < .00001). In patients, FDQ-9 positive result associated with positive attention deficit/hyperactivity disorder self-report version 1.1 (OR = 4.04). Multivariate regression analysis comparing FDQ-9 with the other questionnaires demonstrated a strong association between positive FDQ-9 and the number of painful joints. Our preliminary data open wider management and therapeutic perspectives for coordination difficulties in hypermobile individuals.

Quality improvement of clinic flow for complex genetic conditions: Using Ehlers-Danlos syndrome as a model.

BACKGROUND: Genetic providers face the challenge of having adequate time to conduct a comprehensive evaluation. Hypermobile Ehlers-Danlos (hEDS) syndrome has a complex array of symptoms. An initial visit can involve approximately 60-80 min and an additional 45 min for the check-in and checkout process. We propose a model to improve clinic flow and patient satisfaction by using: (a) pre-appointment questionnaire (b) disease information sheet outlining basic management and (c) itinerary detailing the visit. METHODS: New patients were given a questionnaire, an EDS information sheet, and a visit itinerary. In the end, a patient satisfaction survey was administered containing 18 questions pertaining to their satisfaction with the questionnaire, the information sheet, and their overall visit. Completed surveys were turned in to the front desk to maintain anonymity. RESULTS: Based on the survey results, patient satisfaction toward the implementation of a questionnaire was overwhelmingly positive. Survey responders found that the itinerary was added to their understanding of the appointment process and that the hEDS information sheets were helpful, understandable, and appropriate in length. Respondents said that they strongly agreed or agreed with the following statements: (a) I was satisfied with the visit; (b) I now have a better understanding of my condition; (c) This visit was successful in addressing my most pressing concerns; and (d) I would recommend this clinic to others. CONCLUSION: Designing a disease-centered model that implements patient-centered resources improves patient understanding and satisfaction for new hEDS patient visits. This model can be emulated in diagnosis and management of other complex genetic and nongenetic conditions.