Hypermobility Spectrum Disorder Research Articles

An online pain management program for people with hypermobile Ehlers-Danlos Syndrome or hypermobility spectrum disorder: a three-staged development process.

Hypermobile Ehlers-Danlos Syndrome (hEDS) and hypermobility spectrum disorder (HSD) are painful, chronic and multi-systemic conditions. No online pain management programs for hEDS/HSD currently exist. We aimed to develop one by exploring what people with hEDS/HSD want in such programs. A Delphi was conducted via online surveys of stakeholders: participants with hEDS/HSD and healthcare professionals (HCP). In survey 1, participants were asked if a hEDS/HSD-specific online pain management program was important, listing up to 20 topics important to know about pain. In survey 2, participants rated the importance of those topics. Consensus was set as ≥75% rating of at least "important". Using topics that reached consensus, the online program was developed. Usability testing was performed using the Systems Usability Scale (SUS). 396 hEDS/HSD and 29 HCP completed survey 1; 151 hEDS/HSD and 12 HCP completed survey 2. 81% of hEDS/HSD and 69% of HCP rated a hEDS/HSD-specific program as at least "important". Thirty-five topics reached consensus to guide content for the HOPE program (Hypermobile Online Pain managemEnt). SUS score was 82.5, corresponding to "high acceptability". A hEDS/HSD-specific online pain management program is important to stakeholders. Utilising a Delphi approach to incorporate stakeholder input, an evidence-informed and user appropriate program was developed.

Hemodynamic Consequences of Pre-and Retroaortic Left Renal Vein Compression (“Nutcracker Syndrome”) Causing a Surprising Variety of Symptoms and Complaints, Especially in Patients Affected by Hypermobility Spectrum Disorders

Hemodynamic Consequences of Pre-and Retroaortic Left Renal Vein Compression (“Nutcracker Syndrome”) Causing a Surprising Variety of Symptoms and Complaints, Especially in Patients Affected by Hypermobility Spectrum Disorders

P105 Healthcare use by women with Joint hypermobility and Ehlers-Danlos syndromes in Northumberland

Abstract Background/Aims In 2017, the diagnosis of Joint Hypermobility Syndrome was withdrawn and combined with hypermobile form of Ehlers-Danlos syndrome (hEDS). International Consortium on Ehlers-Danlos syndromes proposed new clinical criteria for hEDS and it recommended the concept of Hypermobility Spectrum Disorders (HSDs) when these criteria are not met. None of these three diagnostic terms JHS, HSD and hEDS fully explain the complexity of this heterogenous condition as the criteria do not take into account many co-morbidities such as anxiety, autism, ADHD, bowel and bladder issues, pregnancy complications, dysautonomia, allergies, and more. Health services are organised on the assumption that it is a benign musculoskeletal condition. Health burden from both joint hypermobility and the associated co-morbidities is not known as these patients are usually discharged after episodic care by most services that work in silos. Hence we sought to measure the pattern and costs of secondary NHS healthcare use in this patient group. Methods Using primary care clinical systems from 30 of 36 GP surgeries in Northumberland (approximately 300,000 total population), we determined the number of people with SNOMED codes synonymous to hypermobility; ‘Benign joint hypermobility’ or ‘Hypermobility syndrome’ was the code recorded in 90% of patients, with less than 10% coded as EDS or subtypes. For the purpose of statistical analysis, we grouped all under the newer diagnostic terms hEDS/HSD. RAIDR, the UK’s leading health intelligence tool, was used to compare secondary healthcare activity and costs between patients with and without hEDS/HSD in Northumberland. Results Prevalence of hEDS/HSD in GP records was 4.4 per 1000. Women of childbearing age are affected more than men (Male : Female ratio 3:1). Hospital admissions to General Medicine, Obstetrics & Gynaecology, Surgery, and Orthopaedics were significantly higher in women with hEDS/HSD. Outpatient attendances to Rheumatology, Physiotherapy, Orthopaedics, and Obstetrics & Gynaecology were also higher in women. Male patients with hEDS/HSD where younger than female patients; they presented more often to mental health, physiotherapy and paediatric outpatients compared to those without hEDS/HSD. The cost of secondary care treatment per patient with hEDS/HSD during 2022 was £932.37 compared to £731.88 in those without. For 1,302 patients with diagnoses synonymous with hEDS/HSD, the total additional cost for A&E, Acute Inpatient and Outpatients in 2022 was £261,037. This excludes mental healthcare costs, although there were around twice the number of appointments. Conclusion We found a diagnosed prevalence of hEDS/HSD of one in 227 people in Northumberland. These patients have a significantly higher usage of secondary care, and thereby a higher average healthcare utilisation cost. The next steps would be expansion of this study, along with more in-depth analysis of reasons for secondary healthcare usage. This should inform commissioning of appropriate integrated health services for people with these complex conditions. Disclosure V. Saravanan: None. E. Reinhold: None. J. Demmler: None. I. Loughran: None. B. Frankel: None.

E031 Retinal vasculitis with Libman-Sacks endocarditis as presenting features of a systemic lupus erythematosus with antiphospholipid antibody syndrome patient

Abstract Background/Aims Ocular manifestations of systemic lupus erythematosus (SLE) are rarely reported at the time of disease onset. Retinal vasculitis is usually associated with the active generalised disease. We report a case of a 22-year-old lady who was diagnosed with SLE with antiphospholipid antibody syndrome (APS) as the initial presentation of retinal vasculitis and Libman-Sacs endocarditis. Methods A 22-year-old lady with a background history of benign hypermobility spectrum disorder, presented to the eye casualty with a 4-week history of right-sided visual disturbances and was diagnosed with retinal vasculitis associated with uveitis, central retinal vein occlusion with multiple emboli in the retinal artery of the right eye and a single embolus in the left eye. In terms of family history, both father and brother were diagnosed with spondyloarthropathy, and the maternal uncle had Sjogren’s syndrome. She was then referred to the medical team for proper evaluation. On query, she mentioned photosensitive rash on her face getting worse in sunlight, a history of Raynaud’s phenomenon, significant hair loss, and one miscarriage before the 10 weeks of gestation. On examination, mild alopecia and a faint butterfly rash on the face were noted. Cardiac auscultation revealed pansystolic murmur. The rest of the systemic examinations were unremarkable. Results The blood test showed thrombocytopenia (130 u/L), positive antinuclear antibody (1:80, speckled pattern) with anti-double stranded DNA (26 IU/L), low complement (C3-0.74, C4- 0.12), markedly raised anticardiolipin antibody IgG (2016 u/ml), anti beta 2 glycoprotein 1 IgG ( >6100 u/ml) including presence of lupus anticoagulant. Her urinary protein creatinine ratio was 66mg/mmol. 3 sets of blood cultures came back negative. Transthoracic echo showed vegetation on the posterior mitral valve leaflet (0.95x 1.2cm) with moderate mitral regurgitation while transesophageal echo additionally found the possibility of perforation at the junction of leaflets of the mitral valve which was later confirmed by cardiac magnetic resonance imaging (MRI). The head MRI scan did not show any central nervous system abnormality. She was initially treated with 500mg intravenous methylprednisolone for 3 days followed by 20mg oral prednisolone daily with gradual tapering. Hydroxychloroquine and mycophenolate mofetil were added. Her case was discussed in the cardiology multidisciplinary team meeting and an opinion from the cardiothoracic surgery was taken to consider valve replacement in the future. Due to aspirin allergy, only warfarin was considered for APS. She had 2 sessions of pan-retinal photocoagulation as well. In subsequent follow-up, it was noted significant improvements in terms of her symptoms. Conclusion Vaso-occlusive retinopathy is a rare, potentially vision-threatening initial manifestation of SLE, which can be an indicator of active disease. Early identification of patients is necessary for timely intervention and multidisciplinary team involvement is required for comprehensive treatment plans. Disclosure M. Islam: None. S. Quddus: None. M. Hughes: None. R. Kumar: None.

Joint Hypermobility Syndrome and Membrane Proteins: A Comprehensive Review.

Ehlers-Danlos syndromes (EDSs) constitute a heterogeneous group of connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Asymptomatic EDSs, joint hypermobility without associated syndromes, EDSs, and hypermobility spectrum disorders are the commonest phenotypes associated with joint hypermobility. Joint hypermobility syndrome (JHS) is a connective tissue disorder characterized by extreme flexibility of the joints, along with pain and other symptoms. JHS can be a sign of a more serious underlying genetic condition, such as EDS, which affects the cartilage, bone, fat, and blood. The exact cause of JHS could be related to genetic changes in the proteins that add flexibility and strength to the joints, ligaments, and tendons, such as collagen. Membrane proteins are a class of proteins embedded in the cell membrane and play a crucial role in cell signaling, transport, and adhesion. Dysregulated membrane proteins have been implicated in a variety of diseases, including cancer, cardiovascular disease, and neurological disorders; recent studies have suggested that membrane proteins may also play a role in the pathogenesis of JHS. This article presents an exploration of the causative factors contributing to musculoskeletal pain in individuals with hypermobility, based on research findings. It aims to provide an understanding of JHS and its association with membrane proteins, addressing the clinical manifestations, pathogenesis, diagnosis, and management of JHS.

Hyperhidrosis and Hypermobility Spectrum Disorders Among Adolescents

This cross-sectional study assesses the prevalence and risk of excessive sweating and joint hypermobility in Israeli adolescents aged 16 to 19 years.

Prevalence of MTHFR Polymorphisms in Patients With Hypermobile Ehlers-Danlos Syndrome and Hypermobile Spectrum Disorders in a US Hypermobility Clinic.

Hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) are characterized by joint hypermobility, joint subluxations and dislocations, hyperextensible skin, and chronic and progressive multiorgan comorbidities. Diagnosing hEDS and HSD is difficult because of variable phenotypes and unknown genetic etiology. In our clinic, we observed many patients with hEDS and HSD with a high serum level of unmetabolized folate, which suggests that hypermobility may be linked to methylenetetrahydrofolate reductase (MTHFR)-mediated folate metabolism. The present study aims to examine the prevalence of MTHFR polymorphisms, C677T and A1298C, among patients with hEDS and HSD. Clinical and demographic information of patients visiting our hypermobility clinic from January 2023 to July 2023 were retrospectively reviewed. Continuous variables were reported as mean ± SD and range, whereas categorical variables were reported as total count and percentage. Among 157 patients, 93% of patients were female patients, 52.2% were diagnosed with hEDS, and 47.8% were diagnosed with HSD. Interestingly, 85% of the patients had MTHFR C677T and/or A1298C polymorphisms in heterozygous or homozygous state. MTHFR 677CT/TT genotype was present in 52.9% of cases, and 49.7% of patients had 1298AC/CC genotype. In addition,14% of patients with hypermobility exhibited MTHFR 677TT genotype, 10.2% showed 1298CC genotype, and 17.2% displayed combined heterozygosity, collectively representing 41.4% hypermobile patients with two copies of MTHFR variant alleles. There is a high prevalence of MTHFR polymorphisms among patients with hypermobility, which supports the hypothesis that hypermobility may be dependent on folate status.

Cardiac defects of hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders: a retrospective cohort study.

Defective connective tissue structure may cause individuals with hypermobile Ehlers-Danlos syndrome (hEDS) or hypermobility spectrum disorders (HSD) to develop cardiac defects. We conducted a retrospective chart review of adult patients treated in the EDS Clinic from November 1, 2019, to June 20, 2022 to identify those with cardiac defects. Echocardiogram data were collected using a data collection service. All EDS Clinic patients were evaluated by a single physician and diagnosed according to the 2017 EDS diagnostic criteria. Patient demographic, family and cardiac history were extracted from self-reported responses from a REDCap clinical intake questionnaire. Patients with at least 1 available echocardiogram (ECHO) were selected for the study (n = 568). The prevalence of aortic root dilation in patients with hEDS was 2.7% and for HSD was 0.6%, with larger measurements for males than females and with age. Based on self-reported cardiac history that was verified from the medical record, patients with hEDS with bradycardia (p = 0.034) or brain aneurysm (p = 0.015) had a significantly larger average adult aortic root z-score. In contrast, patients with HSD that self-reported dysautonomia (p = 0.019) had a significantly larger average aortic root z-score. The prevalence of diagnosed mitral valve prolapse in patients with hEDS was 3.5% and HSD was 1.8%. Variants of uncertain significance were identified in 16 of 84 patients that received genetic testing based on family history. These data reveal a low prevalence of cardiac defects in a large cohort of well-characterized hEDS and HSD patients. Differences in cardiovascular issues were not observed between patients with hEDS vs. HSD; and our findings suggest that cardiac defects in patients with hEDS or HSD are similar to the general population.

Bone Density in Children with Hypermobility Spectrum Disorder Compared to Children with Benign Hypermobility

Background: Hypermobility spectrum disorder (HSD), likely a multifactorial condition characterized by musculoskeletal pain, joint instability, and reduced bone mineral density (BMD), is the focus of this study. Objectives: The aim of this study was to assess and compare bone density in children diagnosed with HSD and those with benign hypermobility. Methods: This case-control study involved 73 pediatric patients diagnosed with hypermobility spectrum disorder and benign hypermobility, who were referred to the Rheumatology clinic of Mofid Hospital in Tehran between February and November 2022. Bone mineral density was measured using Z-scores from L1-L4 and the whole body less head via dual-energy X-ray absorptiometry (DEXA). Results: Significant differences were observed in the frequency distribution of spine BMD Z-scores between the two groups (P = 0.002). There was no significant correlation between spine and whole body BMD Z-scores with age and gender (P > 0.05). A notable correlation was found between spine and whole body BMD Z-scores (P < 0.001 and r = 0.64). Among the HSD group, 18 patients (81.8%) had normal BMD, while 4 patients (18.2%) exhibited low bone density, with no cases of osteoporosis. In contrast, osteoporosis was observed in 7.3% of patients in the benign hypermobility group. Conclusions: Given the high prevalence of osteoporosis in patients with benign hypermobility, clinicians should be vigilant for tendencies toward osteopenia when treating such patients.

Generalized Joint Hypermobility: A Statistical Analysis Identifies Non-Axial Involvement in Most Cases.

Joint hypermobility (JH) represents the extreme of the normal range of motion or a condition for a group of genetically determined connective tissue disorders. Generalized joint hypermobility (GJH) is suspected when present in all four limbs and the axial skeleton, scored in prepubescent children and adolescents by a Beighton Score (BS) ≥ 6. Parameters are also used to identify GJH in hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSDs). The purpose of this study is to characterize children with JH based on the location of variables in the BS ≥ 6 and identify children with JH in the axial skeleton, upper limbs (ULs), and lower limbs (LLs) simultaneously. We analyzed 124 medical records of one- to nine-year-old children with JH by BS. The characterization of GJH by combinations of the axial skeleton, ULs, and LLs simultaneously totaled 25.7%. BS = 6 and BS = 8 consisted of variables located in ULs and LLs. BS = 7 included the axial skeleton, ULs, and LLs. BS ≥ 6 represents the majority of the sample and predominantly girls. BS ≥ 6 represents the majority of the sample and predominantly girls. Most characterized children with GJH present BS = 6 and BS = 8 with variables located only in ULs and LLs, a condition that does not imply the feature is generalized. In children, BS = 7 and BS = 9 characterize GJH by including the axial skeleton, ULs, and LLs. These results draw attention to the implications for defining the diagnosis of hEDS and HSDs.

Patient interest in the development of a center for Ehlers-Danlos syndrome/hypermobility spectrum disorder in the Chicagoland region

BackgroundThe Ehlers-Danlos Syndromes (EDS) are a group of connective tissue disorders that are hereditary in nature and characterized by joint hypermobility and tissue fragility. The complex nature of this unique patient population requires multidisciplinary care, but appropriate centers for such care do not exist in large portions of the country. Need for more integrated services has been identified in Chicagoland, or Chicago and its suburbs. In order to explore and begin to address barriers to seeking appropriate care facing EDS patients in this region, we developed an online survey which we circulated through EDS social media groups for Chicagoland patients.ResultsThree hundred and nine unique respondents participated. We found that there exists a strong medical need for and interest in the development of a center in the region, and participants reported that, if made available to them, they would make extensive and regular use of such a facility.ConclusionsWe conclude that the establishment of a collaborative medical center specializing in the diagnosis and treatment of EDS, Hypermobility Spectrum Disorder, and related disorders in the Chicagoland area would greatly benefit patients by providing comprehensive care, alleviate the burden on overworked healthcare providers, and contribute to the sustainability of medical facilities.

Integrative medicine for hypermobility spectrum disorders (HSD) and Ehlers-Danlos syndromes (EDS): a feasibility study

Purpose Hypermobility spectrum disorders (HSD) and Ehlers-Danlos syndromes (EDS) are multisystem conditions marked by dysfunctional connective tissue. This feasibility study evaluated a 9-week integrative medicine program in this population. Methods Using a single-arm study design, adults with HSD or EDS were given recommendations for an anti-inflammatory Mediterranean diet and self-management with additional behavioral and psychosocial support. Preliminary data on feasibility based on recruitment and retention, adherence to the diet, mobile app tracking, changes to perceived well-being via health outcomes, and satisfaction with care were obtained. Results Thirteen participants were enrolled within a 4-month timeframe. Eight participants completed the study. Three participants met dietary tracking requirement in at least 4 of 8 intervention weeks and met the macronutrient requirements in at least half of the weeks tracked. No decreases in VAS pain scores after 5 and 9 weeks were noted; however, 62.5% (n = 5) of participants had decreased pain at 9 weeks, compared to baseline. There were significant improvements (p<.05) in six of twelve measurements of satisfaction with care at the end of the intervention. Conclusion This study provides a foundation for future research on patient experience and introduces a novel treatment paradigm focused on nutrition and self-management. Trial Registration: National Institutes of Health clinicaltrials.gov; identifier: NCT04734041. Implications for rehabilitation Lifestyle and dietary interventions are relatively safe and well tolerated in the hypermobility spectrum disorder (HSD) and Ehlers-Danlos disorder (EDS) population. Participants in our 9-week integrative medicine program actively engaged in self-management of their condition and showed promising adherence to dietary and tracking requirements. Effective treatment of the intricacies and dynamics of these highly variable and clinically heterogeneous disorders may require a network of healthcare providers, integrative healthcare, as well as behavioral and psychosocial support. Dietary tracking through mobile apps might help promote self-efficacy and adherence to dietary changes. Symptom tracking might be an effective way for patients to track changes to their health and could provide valuable information for health professionals engaged in managing the disorders.

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

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. 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. 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. 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. This study suggests that patients with Ehlers-Danlos syndrome/hypermobility spectrum disorders may benefit from inclusion in an interdisciplinary pain rehabilitation programme.

Functional neurological signs in hypermobile Ehlers-Danlos syndrome and hypermobile spectrum disorders with suspected neuropathic pain.

The hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) are connective tissue disorders characterized by generalized joint hypermobility, associated with chronic pain and several symptoms, such as fatigue, dysautonomia, as well as psychiatric co-morbidities. Clinical observations of unusual manifestations during systematic sensory testing raised the question of a possible co-existence with a functional neurological disorder (FND). Hence, this study aimed to assess the presence of positive functional neurological signs (FNS) in a cohort of patients with hEDS/HSD. The clinical data of hEDS/HSD patients (N=24) were retrospectively analyzed and compared to a prospectively recruited age-/sex-matched healthy control group (N=22). Four motor- and three sensory-positive FNS were assessed. Twenty-two patients (92%) presented at least one motor or sensory FNS. Five patients (21%) presented only a single FNS, 14 presented between 2 and 4 FNS (58%), and 3 patients presented 5 or more FNS (12%). None of the healthy controls presented motor FNS, and only two presented a sensory FNS. The presence of FNS in hEDS/HSD deserves better clinical detection and formal diagnosis of FND to offer more adequate care in co-morbid situations. In fact, FND can severely interfere with rehabilitation efforts in hEDS/HSD, and FND-targeted physical therapy should perhaps be combined with EDS/HSD-specific approaches.

One-year effectiveness of high-load compared with low-load strengthening exercise on self-reported function in patients with hypermobile shoulders: a secondary analysis from a randomised controlled trial

ObjectivesTo investigate the long-term effectiveness of high-load versus low-load strengthening exercise on self-reported function in patients with hypermobility spectrum disorder (HSD) and shoulder symptoms.MethodsA secondary analysis of a superiority, parallel-group,...

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

BackgroundConditions 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.MethodsThe 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.DiscussionThis 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.

Safety and Effectiveness of Prucalopride in Children with Functional Constipation with and without Upper Symptoms.

Pediatric prucalopride studies for treatment of gastrointestinal (GI) disorders have reported mixed results. We aimed to assess the safety and effectiveness of prucalopride in functional constipation (FC) with and without upper GI symptoms. Retrospective data on patients with FC receiving combined prucalopride and conventional therapy was compared with those receiving conventional therapy alone within 12 months. Thirty patients on combined therapy and those on conventional therapy were each matched on the basis of age, gender, race, and presence of fecal soiling. Response (complete, partial, or no resolution) was compared. Similarly, response to concurrent functional upper GI symptoms (postprandial pain, bloating, weight loss, vomiting, early satiety, or nausea) and dysphagia, as well as adverse effects, were evaluated in the combined group. Mean age of 57 cases was 14.7 ± 4.9 years and 68% were female. Comorbidities included functional upper GI (UGI) symptoms (84%), dysphagia (12%), mood disorders (49%), and hypermobility spectrum disorder (37%). Unmatched cases reported 63% improvement to FC; response did not differ between the matched cohorts (70% versus 76.6%, p = 0.84). Cases showed a 56% improvement in functional UGI symptoms and 100% in dysphagia. Adverse effects were reported in 30%, abdominal cramps being most common. Four (7%) patients with a known mood disorder reported worsened mood, of which two endorsed suicidal ideation. Prucalopride efficaciously treated concurrent UGI symptoms and dysphagia in constipated pediatric patients and was overall well tolerated. Preexisting mood disorders seemed to worsen in a small subset of cases.

Automated, Vision-Based Goniometry and Range of Motion Calculation in Individuals With Suspected Ehlers-Danlos Syndromes/Generalized Hypermobility Spectrum Disorders: A Comparison of Pose-Estimation Libraries to Goniometric Measurements

Automated, Vision-Based Goniometry and Range of Motion Calculation in Individuals With Suspected Ehlers-Danlos Syndromes/Generalized Hypermobility Spectrum Disorders: A Comparison of Pose-Estimation Libraries to Goniometric Measurements

Evaluation and management of orthostatic headache in hypermobility disorders.

Headache is a frequent symptom among patients with hypermobility spectrum disorders. This mini review focuses specifically on a challenging aspect of headache evaluation in all patients, but especially those with hypermobility - the orthostatic headache. While the differential for an orthostatic headache is overall limited, patients with hypermobility disorders have risk factors for all of the most commonly encountered orthostatic headache disorders. The most common conditions to produce orthostatic headaches are discussed - spontaneous intracranial hypotension, cervicogenic headache, and postural orthostatic tachycardia syndrome. Less common etiologies of orthostatic headache pertinent to any patient are presented in table format.

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

AbstractHypermobility 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.