BACKGROUND: Generalized joint hypermobility (GJH) can be the result of several hereditary connective tissue disorders, especially Ehlers-Danlos syndrome. Cerebrovascular manifestations are among the most common complications in this disorder, and understanding their extent can help better diagnosis and prevention of hazardous events. We investigated visual evoked potential (VEP) changes in patients with GJH and compared them with healthy individuals.
METHODS: Our case-control study included 90 patients who fulfilled the Beighton score (B score) for joint hypermobility and other 90 healthy participants. All of them went under VEP study, and the amplitude and latency of the evoked potential (P100) were compared to each other.
RESULTS: The Case group had significantly higher B score (7.18 ± 0.967 vs. 1.18 ± 0.712), P100 latency (110.23 ± 6.64 ms vs. 100.18 ± 4.273 ms), and amplitude (6.54 ± 1.26 mv vs. 6.50 ± 1.29 mv) compared with the Control group, but the difference was only significant regarding B score, and P100 latency (p-value <.0001). Moreover, both latency and amplitude of P100 had significantly positive correlations with the B score in the Case group (p-value <.0001), but such correlations were not found in the Control group (p-value = .059).
CONCLUSIONS: Our study could reveal VEP changes, especially significant P100 latency in GJH patients without previous neurologic or musculoskeletal disorders. Whether these changes are due to GJH itself or are predictive of inevitable neurologic disease or visual pathway involvement, particularly Multiple Sclerosis needs further investigation with longer follow-up periods.

UNASSIGNED: Patients with hypermobile Ehlers-Danlos Syndrome (hEDS) often make use of complementary and alternative medical (CAM) techniques to manage their chronic pain and other symptoms. Nevertheless, how they use CAM, which techniques they favor, and how CAM use affects their allopathic care remain unclear. The purpose of this qualitative study was to understand patients\' personal experiences with CAM and its role in their symptom management.
UNASSIGNED: Thirty individuals living with hEDS completed a brief online survey related to their CAM use. Thereafter, in-depth interviews were conducted with 24 of the survey respondents, qualitatively investigating their experiences with CAM. Data were analyzed using thematic analysis.
UNASSIGNED: Participants described massage therapy (N = 21), medical cannabis (N = 12), and mindfulness (N = 13) as some of the most useful CAM modalities for managing symptoms related to hEDS, but they expressed a general interest in pursuing any treatment that could potentially reduce their chronic pain. They suggested an overall trust in CAM modalities and practitioners and ascribed greater empathy to CAM practitioners than to conventional medical providers. However, they also described a critical skepticism of CAM (and conventional) therapies and recounted instances of injury from such treatments.
UNASSIGNED: Participants made extensive use of CAM therapies. They described both critical benefits as well as harms from the use of these non-conventional modalities. These results underscore the importance of clinicians maintaining communicative and compassionate relationships with their patients, and of an openness to the discussion and use of CAM treatments.

Hypermobility spectrum disorders (HSD) and Ehlers-Danlos syndromes (EDS) are frequently underdiagnosed, contributing to patient dissatisfaction in the healthcare system. This study evaluated the health service utilization, care, and subjective experiences of living with chronic illness among adults with HSD and EDS in the United States and Canada.
This was an anonymous, web-based, cross-sectional healthcare survey. The survey obtained basic demographic information, the Patient Assessment of Chronic Illness Care (PACIC+), as well as responses to questions on the use of healthcare and integrative medicine.
A total of 353 surveys were received. The most common complementary therapies used were physical therapy (82%), massage (68%), yoga (58%), chiropractic (48%), and meditation (43%). Mean (SD) summary PACIC and PACIC 5 As scores were 2.16 (0.77) and 2.25 (0.83), respectively. Across all PACIC domains, mean scores of individuals whose typical doctor visit was 30 min or at least an hour were significantly higher than those of individuals who indicated typical visits of 15 min (all p < 0.0001 by one-way ANOVA). There was widespread agreement on the importance of patient-provider relationship and trust, physicians\' understanding of the individual\'s complete medical history, and prioritization of physical and emotional safety (>95% agree or strongly agree to each).
Individuals with HSD or EDS report low satisfaction with chronic illness care and commonly seek out complementary and self-administered therapies, likely in an attempt to manage symptoms. Respondents reported a desire for greater time and attention from physicians. Results from this study could educate the healthcare community to improve support mechanisms for HSD and EDS populations.IMPLICATIONS FOR REHABILITATIONPatients with hypermobility spectrum disorders (HSD) or Ehlers-Danlos syndromes (EDS) express a desire for patient-centered care and peer support from other individuals with HSD or EDS.Individuals with HSD or EDS have typically seen multiple doctors for their condition and their satisfaction with chronic care, as measured by the Patient Assessment of Chronic Illness Care (PACIC+), is low.The use of various complementary and integrative health treatments, as well as specialized diets, is common in this population, and might be beneficial for symptom management.Healthcare delivery for HSD and EDS may require a multidisciplinary healthcare team, as complementary and self-care modalities are typically used in addition to physical therapy, pain medication, and other conventional care.

Heritable connective tissue disorders (HCTDs) consist of heterogeneous syndromes. The diagnosis of HCTDs is aided by genomic biotechnologies (e.g., next-generation sequencing panels) facilitating the discovery of novel variants causing disease.
Detailed clinical exam data and CLIA-approved genetic testing results from next generation sequencing of 74 genes known to play a role in HCTDs were manually reviewed and analyzed in one hundred consecutive, unrelated patients with phenotypic features indicative of a HCTD referred over a 3.5-year period (2016-2020) to a specialized academic genetics clinic. The prevalence of symptoms was evaluated in the context of genetic variants. We also determined if symptoms among different organ systems were related and performed latent class analysis to identify distinct groups of patients based on symptomatology.
In the cohort of 100 consecutive, unrelated individuals there were four pathogenic, six likely pathogenic and 35 classified potentially pathogenic variants of unknown clinical significance. Patients with potentially pathogenic variants exhibited similar symptom profiles when compared to patients with pathogenic/likely pathogenic variants in the same genes. Although results did not meet a multiple testing corrected threshold, patients with connective tissue symptoms had suggestive evidence of increased odds of having skin (odds ratio 2.18, 95% confidence interval 1.12 to 4.24) and eye symptoms (odds ratio 1.89, 95% confidence interval 0.98 to 3.66) requiring further studies. The best performing latent class analysis results were identified when dividing the dataset into three distinct groups based on age, gender and presence or absence of symptoms in the skeletal, connective tissue, nervous, gastrointestinal and cardiovascular systems. These distinct classes of patients included individuals with: (1) minimal skeletal symptoms, (2) more skeletal but fewer connective tissue, nervous or gastrointestinal symptoms and (3) more nervous system symptoms.
We used novel approaches to characterize phenotype-genotype relationships, including pinpointing potentially pathogenic variants, and detecting unique symptom profiles in patients with features of HCTDs. This study may guide future diagnosis and disease/organ system monitoring with continued improvement and surveillance by clinicians for patients and their families.

OBJECTIVE: Ehlers-Danlos Syndrome (EDS) is a group of inherited connective tissue disorders associated with abnormal collagen, and is more prevalent in women than in men. The aim of this cross-sectional study was to characterize pelvic floor symptoms in cisgender women with EDS and to describe their impact on quality of life.
METHODS: An online questionnaire on obstetric and gynecological experiences of cisgender women with EDS was disseminated through EDS patient societies and social media. This study was a sub-analysis of the broader questionnaire and focused on pelvic floor disorders, whereby self-reported symptoms and validated questionnaires were used to assess pelvic floor symptom severity (Pelvic Floor Distress Inventory, PFDI-20), impact on quality of life (Pelvic Floor Impact Questionnaire, PFIQ-7), and sexual function (Female Sexual Function Index, FSFI-6). Groups based on age and EDS type were compared using Kruskal-Wallis and Chi-squared tests.
RESULTS: A total of 1,303 participants were included in the analysis. Pelvic floor symptom prevalence included: stress urinary incontinence in 60%, urgency urinary incontinence in 54%, fecal incontinence in 24%, and pelvic organ prolapse in 21%. Bladder symptoms were reported to be the most bothersome. The impact of prolapse symptoms on quality of life was higher in women under age 40 than in older participants (p<0.001). Pelvic pain was reported in 71%. Pain ratings were highest for dysmenorrhea, muscle and joint pain, and backache (median 7 out of 10 for each). Almost half of participants screened positive for possible sexual dysfunction and 36% reported dyspareunia more than half the time.
CONCLUSIONS: This large, observational study demonstrated that cisgender women with EDS report a high prevalence of pelvic floor symptoms that appear to be more severe than in the general population.

UNASSIGNED: to assess the effect of wearing a compressive short-sleeve jacket on shoulder stability and rotator muscles in adult patients with a hypermobile subtype of Ehlers-Danlos syndrome.
UNASSIGNED: a quasi-experimental study with \"Pre/Post\" design (4 weeks with versus 4 weeks without), open, conducted on a national cohort. Shoulder rotators were assessed with an isokinetic device at 180°/s and 90°/s; frequency of shoulder stability defects, pain (Visual Analogical Scale), and satisfaction (Quebec User Evaluation of Satisfaction with Assistive Technology) were reported.
UNASSIGNED: 36 patients (35 women), mean age 37.9 years, wore jackets for a meanly 7.8 h/day. >70% were satisfied with the effect on arthralgia, instability, or function. QUEST results were high (m = 4.1, SD = 0.7). After jacket wear, the power of external rotators at 180°/s was significantly increased (+1.29 W, CI95%: 0.31; 2.28; p = 0.0318). At 90°/s, no significant difference was found, either on power or strength. The on-off effect highlights a significant difference in external and internal rotators power, whatever the speed. The occurrence of subluxation (p = 0.0140) and dislocations (p = 0.0163) decreased. Pain decreased from 3.5/10 to 2.5/10, without significance (p = 0.0964).
UNASSIGNED: compressive CICATREX SED® jackets are well supported by patients, impact the power of external rotators at high speed (180°/s), and improve joint stability.IMPLICATIONS FOR REHABILITATIONCompressive garments made to measure are beneficial to patients with hypermobile Ehlers-Danlos syndrome.Compressive CICATREX SED® jackets clearly improve shoulder stability and help to promote muscle power in shoulder external rotators during high-speed movements.One month of jacket wearing seems to bring no lasting effect on shoulder-rotator power, so the jacket needs to be kept on for the benefits to be maintained.

(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 conjunctive 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.

Although chronic pain is common in patients with Ehlers-Danlos syndrome (EDS) and hypermobility syndromes (HMS), little is known about the clinical characteristics of these groups. The main aim was to compare EDS/HMS with common local and generalized pain conditions with respect to Patient Reported Outcome Measures (PROMs). Data from the Swedish Quality Register for Chronic Pain (SQRP) from 2007 to 2016 (n = 40,518) were used, including patients with EDS/HMS (n = 795), fibromyalgia (n = 5791), spinal pain (n = 6693), and whiplash associated disorders (WAD) (n = 1229). No important differences in the PROMs were found between EDS and HMS. Women were represented in > 90% of EDS/HMS cases and fibromyalgia cases, and in about 64% of the other groups. The EDS/HMS group was significantly younger than the others but had a longer pain duration. The pain intensity in EDS/HMS was like those found in spinal pain and WAD; fibromyalgia had the highest pain intensity. Depressive and anxiety symptoms were very similar in the four groups. Vitality-a proxy for fatigue-was low both in EDS/HMS and fibromyalgia. The physical health was lower in EDS/HMS and fibromyalgia than in the two other groups. Patients with EDS/HMS were younger, more often female, and suffered from pain for the longest time compared with patients who had localized/regional pain conditions. Health-care clinicians must be aware of these issues related to EDS/HMS both when assessing the clinical presentations and planning treatment and rehabilitation interventions.

Little attention has been paid to psychosocial factors in Joint Hypermobility Syndrome and Ehlers-Danlos Syndrome (hypermobility type). This study sought to identify the psychosocial impact by examining participants\' lived experiences; and identify characteristics of effective coping.
Adults with Joint Hypermobility Syndrome and Ehlers-Danlos Syndrome (Hypermobility Type) were invited to discuss their own lived experiences and the impact of the condition. All met recognized criteria for clinically significant joint hypermobility, and had a self-confirmed diagnosis. The transcripts were coded and analyzed using inductive thematic analysis.
Seventeen participants (14 women, 3 men) purposively selected to broadly represent different genders, ages and ethnicities. Analysis identified five key themes: healthcare limitations, a lack of awareness of Joint Hypermobility, and Ehlers-Danlos Syndrome (Hypermobility Type) among healthcare professionals; a restricted life; social stigma; fear of the unknown; and ways of coping.
The results highlight the significant psychosocial impact on participants\' lives. Coping approaches identified included acceptance, building social networks, learning about joint hypermobility, and adapting activities. Physiotherapists supported regular exercise. Further research should consider potential interventions to improve information provision, address psychological support, and increase awareness of hypermobility among healthcare professionals.Implications for rehabilitationParticipants who had help from family members to complete activities described guilt and shame, highlighting the need for a greater rehabilitation focus on maintaining independence.Difficulties with sexual relationships due to prolapse or erectile dysfunction, and associated anxieties have indicated a need for greater awareness of these issues within primary care.The provision of reliable information and materials is vital, both for healthcare professionals and patients, to reduce misinformation and fear.Physiotherapists with knowledge of Joint Hypermobility Syndrome and Ehlers-Danlos Syndrome hypermobility type were cited as sources of support and hope, which helped people to cope with and manage their condition.

BACKGROUND: The goal of this study was to describe and analyze the ophthalmological manifestations found in 21 patients followed for Ehlers-Danlos Syndrome in our department.
METHODS: This retrospective study analyzed 21 consecutive patients (17 women and 4 men) with Ehlers-Danlos syndrome seen in the Necker hospital, Paris, between April 2016 and November 2017. The mean age was 25.95 years (12-47). A complete evaluation was performed searching for symptoms, orthoptic evaluation and complete ophthalmologic examination with slit lamp examination of the anterior segment, pachymetry and fundus examination with fundus photography and OCT.
RESULTS: Nineteen patients presented ophthalmological signs (90.5%). The most frequent ophthalmological signs were: ocular motility disorders in 15 patients (71.4%), with convergence insufficiency in 13 of them, blue sclera in 8 patients (38%) and dry eye syndrome in 7 patients (33%, with 2 patients with reduced Break-Up Time<10seconds and 5 with very reduced Break-Up Time<5seconds). Mean pachymetry was 539.25μm (365-612). One patient presented with bilateral keratoglobus (4.8%). High myopia was present in 2 patients (9.5%) and associated with retinal tears in one patient (4.8%). No patients presented with angioid streaks.
CONCLUSIONS: In this study, the main ophthalmological sign was convergence insufficiency present in more than 60% of the patients. This highlights the importance of an orthoptic examination in patients with Ehlers-Danlos syndrome. Dry eye syndrome with tear film instability was frequent, even though the patients were young. Blue sclera was seen in 38% of the patients. We reported two patients with high myopia and one patient with keratoglobus in our cohort. No patients presented with angioid streaks, and mean pachymetry was normal in our series.
CONCLUSIONS: An ophthalmological and orthoptic evaluation should be performed in all patients with Ehlers-Danlos syndrome to detect and treat ocular manifestations. If Ehlers-Danlos syndrome is suspected, ophthalmological examination can also provide support for the diagnosis.