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Background: A high prevalence of disorders of gut‐brain interaction (DGBI) exist in patients with hypermobile Ehlers‐Danlos Syndrome (hEDS) and hypermobility spectrum disorders (HSD). However, it is unknown if clusters of hEDS/HSD patients exist which overlap with different DGBIs and whether this overlap influences presence of comorbidities and quality of life. We aimed to study these knowledge gaps. Methods: A prospectively collected hEDS/HSD cohort of 1044 individuals were studied. We undertook Uniform Manifold Approximation and Projection‐enabled (UMAP) dimension reduction to create a representation of nonlinear interactions between hEDS/HSD and DGBIs, from which individuals were stratified into clusters. Somatization, Postural Tachycardia Syndrome (PoTS), autonomic symptoms, psychological factors and quality of life were statistically compared between clusters. Key Results: The mean age of patients was 40 ± 13.2 years; 87.8% were female. Patients segregated into three clusters: Cluster 0 (n = 466): hEDS/HSD+ functional foregut disorders (FFD) + irritable bowel syndrome (IBS); Cluster 1 (n = 180): hEDS/HSD+ IBS and Cluster 2 (n = 337): hEDS/HSD alone. In cluster 0, we demonstrated increased somatization (p <0.0001), anxiety (p <0.0001), depression (p <0.0001), PoTS prevalence (p = 0.003), autonomic symptoms (p <0.0001) and reduced quality of life (p <0.0001) compared to cluster 2. Cluster 0 had greater comorbidity burden than cluster 1. Conclusions: Within hEDS/HSD, subgroups exist with a high prevalence of FFD and IBS. These subgroups have a higher prevalence of psychological disorders, dysautonomia and poorer quality of life compared with hEDS/HSD alone. Further research should focus on healthcare utilization, management and prognosis in hEDS/HSD and DGBI overlap. [ABSTRACT FROM AUTHOR]

The temporary cessation of air travel imposed by the COVID-19 pandemic provided business travelers with an opportunity to mentally "zoom out" and reflect on their suspended hypermobile lifestyle. The present study used these circumstances to reexamine three key issues in the literature pre-pandemic: (a) the costs and benefits of a hypermobile lifestyle; (b) the justification of business trips given the option of online meetings; and (c) the role of tourism in shaping the business trip experience. An interpretive analysis of in-depth interviews with grounded business travelers conducted at the height of the pandemic revealed that the lack of frequent travel improved work-life balance but evoked a longing for tourism-related experiences, such as change, novelty, and pleasure. Grounded business travelers also proclaimed that the lack of physical proximity to colleagues caused by the suspension of travel was followed by difficulties in generating new business relationships and nurturing creativity at work. The study presented the costs and benefits of immobility as a reverse image of hypermobility, reinforcing the notion of hypermobility as a stressful but exciting lifestyle. It showed that physical proximity with colleagues cannot be fully replaced by online meetings, supporting the opinion that stresses the need for business trips. By suggesting that tourism-related experiences serve as anchor points for the reconstruction of memories and longing in the minds of grounded business travelers, the study confirmed that tourism-related experiences are important components of business trips. [ABSTRACT FROM AUTHOR]

Neurology and connective tissue are intimately interdependent systems and are critical in regulating many of the body's systems. Unlocking their multifaceted relationship can transform clinical understanding of the mechanisms involved in multisystemic regulation and dysregulation. The fascial system is highly innervated and rich with blood vessels, lymphatics, and hormonal and neurotransmitter receptors. Given its ubiquity, fascia may serve as a "watchman," receiving and processing information on whole body health. This paper reviews what constitutes fascia, why it is clinically important, and its contiguous and interdependent relationship with the nervous system. Unquestionably, fascial integrity is paramount to human locomotion, interaction with our environment, bodily sense, and general physical and emotional wellbeing, so an understanding of the fascial dysregulation that defines a range of pathological states, including hypermobility syndromes, autonomic dysregulation, mast cell activation, and acquired connective tissue disorders is critical in ensuring recognition, research, and appropriate management of these conditions, to the satisfaction of the patient as well as the treating practitioner. [ABSTRACT FROM AUTHOR]

Individuals with joint hypermobility and the Ehlers-Danlos Syndromes (EDS) are disproportionately affected by neuraxial dysfunction and Central Nervous System (CNS) disorders: such as Spontaneous Intracranial Hypotension (SIH) due to spinal cerebrospinal fluid (CSF) leaks, Upper Cervical Instability (UCI; including craniocervical or atlantoaxial instability (CCI/AAI)), Occult Tethered Cord Syndrome (TCS), Chiari Malformation (CM) and Idiopathic Intracranial Hypertension (IIH). The neuraxis comprises the parts of the nervous system (brain, nerves, spinal cord) along the craniospinal axis of the body. Neuraxial tissue includes all tissue structures that comprise, support, sheath, and connect along the neuraxis and peripheral nerves. Altered mechanical loading or vascular supply of neural structures can adversely impact neural health and conductivity, with local and remote effects on inflammation, venous congestion, and muscle control. With EDS characterized by altered structure of the connective tissues found throughout the body including the neural system, altered mechanical properties of the central nervous system (CNS) and its surrounding tissue structures are important considerations in the development and diagnostics of these CNS disorders, as well as response to therapeutic interventions. Experts have identified a need for neuraxial curriculum in medical education and hypermobility-adapted treatment approaches in pain management, neurosurgery, anesthesiology, hematology, gastrointestinal surgery, dermatology, cardiology, dentistry, gastroenterology, allergy/immunology, physical therapy, primary care, radiology and emergency medicine. This paper reviews the interactions between neuraxial biomechanics and pathology related to CNS disorders seen commonly with EDS. First, we provide a concise synthesis of the literature on neuraxial kinematics and fluid dynamics. We then discuss the interplay of these biomechanics and their involvement in clinically-relevant diagnoses and overlapping symptom presentations, modeling physiological reasoning to highlight knowledge gaps, support clinical decision-making, improve multidisciplinary management of hypermobility-associated complexity, and add weight to the call for medical education reform. [ABSTRACT FROM AUTHOR]

The Ehlers-Danlos syndromes (EDS) represent a group of genetically diverse disorders characterized by the variable combination of joint hypermobility, hyperextensibility of the skin, and connective tissue fragility affecting the skin and other organs. Based on clinical features, 13 different types of EDS have been delineated, 12 of which represent monogenic conditions caused by pathogenic variants in 21 confirmed genes. Pathogenesis is related to disturbances of collagen formation and/or stability. No monogenic cause has been identified for hypermobile EDS (hEDS), a more common EDS type, which is unlikely to represent a single gene disorder in the majority of affected individuals and at present cannot be diagnosed by genetic investigations. Here we summarize the clinical features and the molecular bases of the monogenic EDS types, highlight diagnostic challenges, and provide guidance for the molecular work-up of affected individuals. In general, genetic tests are indicated if clinical features suggest a monogenic EDS type but are usually unrewarding for other cases of hypermobility. [ABSTRACT FROM AUTHOR]

The reported prevalence of hypermobility spectrum disorders (HSD) and hypermobile Ehlers-Danlos Syndrome (hEDS) is unclear due to complex presentations and lack of awareness amongst professionals, contributing to diagnostic and management uncertainties. Standardising an outcome measure to assess symptoms most important to patients should help determine the impact of interventions. This Delphi study aims to reach a consensus with stakeholders on the core outcome set for children and adults with HSD/hEDS. A three-round modified Delphi consensus study with a follow-up consensus meeting was used. Stakeholder groups consisted of (1) individuals with HSD/hEDS; (2) family/friends/carers and (3) healthcare professionals. Participants could belong to more than one stakeholder group. They rated 74 symptoms using a 9-point Likert scale: 1 "not important to 9 "critically important". Symptoms achieving a consensus rating of ≥ 70.0% critical importance across all groups were included. In Round 1, 766 responses were received from 600 participants, reducing to 566 responses from 438 participants by Round 3, with 53 participating in the consensus meeting. Overall, 30 symptoms met the ≥ 70.0% critically important threshold to be included in the final core outcome set. These were categorised under the specialties of musculoskeletal and orthopaedics, social, pain, gynaecology and urology, negative affect, neurological, gastrointestinal and "other". This study is the first to identify by consensus the core outcome set to be measured for patients with HSD/hEDS. The importance of these outcomes was confirmed by individuals living with the condition, their family, friends, carers and relevant healthcare professionals. Trial registration: IRAS ID: 326,855; East Midlands — Leicester South REC (reference: 23/EM/0143); Protocol registered with the COMET Initiative. Key Points • There is a lack of standardised outcome measure for HSD/hEDS research studies due to the heterogeneity of symptom presentations. • Symptoms across musculoskeletal and orthopaedics, social, pain, gynaecology and urology, negative affect, neurological, gastrointestinal and "other" specialties were identified as the core outcome set defined as ≥ 70.0% critically important to measure for individuals with HSD/hEDS. • There were a significant number of symptoms, widely recognised in the literature to be comorbid to HSD/hEDS, that reached a critical importance threshold of 50.0–69.9%, restricting the core outcome set to only those that met 70% or above may be limiting. [ABSTRACT FROM AUTHOR]

To investigate differences in proprioception using four proprioceptive tests in children with and without hypermobility. Additionally, it was tested if the results on one proprioceptive test predict the results on the other tests. Of the children (8-11years), 100 were classified as normal mobile (Beighton score 0–4) and 50 as hypermobile (Beighton score 5–9). To test proprioception, in the upper extremity the unilateral and bilateral joint position reproduction tasks were used and for the lower extremity the loaded and unloaded wedges task. No differences were found in any of the proprioception tests between the two groups. Estimating the height of the wedges was easier in the loaded position (mean penalty in standing and sitting position, 4.78 and 6.19, respectively). Recalling the elbow position in the same arm resulted in smaller errors compared to tasks reproducing the position with the contralateral arm. Of the four angles used (110°, 90°, 70°, 50°), the position recall in the 90° angle had the smallest position error (1.8°). Correlations between the proprioception tests were weak (Loaded and Unloaded (r 0. 28); Uni and Bilateral (r 0.39), Upper and Lower extremity not significant). No indication of poorer proprioception was found in children with hypermobile joints compared to their normal mobile peers. Loading gives extra information that leads to fewer errors in the wedges task performed while standing, but this effect is independent of joint mobility. Proprioception test outcomes are dependent on the test used; upper extremity results do not predict lower extremity outcomes or vice versa. [ABSTRACT FROM AUTHOR]

Long-term complications following total joint arthroplasty are not well established for patients who have Ehlers-Danlos syndrome (EDS), a group of connective tissue disorders. This study compared 10-year incidence of revision surgery after total hip arthroplasty (THA) and total knee arthroplasty (TKA) in patients who have and do not have EDS. A retrospective cohort analysis was conducted using a national all-payer claims database from 2010 to 2021 to identify patients who underwent primary TKA or THA. Patients who had and did not have EDS were propensity score–matched by age, sex, and a comorbidity index. Kaplan-Meier analyses and Cox proportional hazard models were used to determine the cumulative incidence and risks of revision experienced by patients who have and do not have EDS. The EDS patients who underwent TKA had a higher risk of all-cause revision (hazard ratio [HR]: 1.50, 95% confidence interval [95% CI]: 1.09 to 2.07, P <.014) and risk of revision due to instability (HR = 2.49, 95% CI: 1.37 to 4.52, P <.003). The EDS patients who underwent THA had a higher risk of all-cause revision (HR = 2.32, 95% CI: 1.47 to 3.65, P <.001), revision due to instability (HR = 4.26, 95% CI: 2.17 to 8.36, P <.001), and mechanical loosening (HR = 3.63, 95% CI: 2.05 to 6.44, P <.001). Patients who had EDS were found to have a higher incidence of revision within 10 years of undergoing TKA and THA compared to matched controls, especially for instability. Patients who have EDS should be counseled accordingly. Surgical technique and implant selection should include consideration for increased constraint in TKA and larger femoral heads or dual mobility articulations for THA. [ABSTRACT FROM AUTHOR]

Background/Objectives: Ehlers–Danlos syndrome is a group of inherited connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Ehlers–Danlos syndrome is associated with a broad spectrum of clinical manifestations, including chronic pain, severe fatigue, and a range of physical and psychological complications. This study aims to identify, in patients with non-vascular type of Ehlers–Danlos syndrome, the most common physical symptoms, the impact of these symptoms on daily life, and individuals' perceptions of their health. Methods: A qualitative descriptive study based on content analysis was employed, reviewing 24 individual interviews to gain a comprehensive understanding of participants' experiences. The study was conducted in accordance with the COREQ (Consolidated Criteria for Reporting Qualitative Research) guidelines, which include a 32-item checklist commonly used in qualitative research. Results: Four main themes were identified: (1) Common physical symptoms, (2) Impact on daily life, (3) Impact on social and family relationships, and (4) Health perception and well-being. Conclusions: The analysis of the interviews reveals that individuals with Ehlers–Danlos syndrome face significant physical and emotional challenges. Physical symptoms, particularly chronic pain, fatigue, and joint issues, severely impact their ability to lead a normal life. These symptoms, along with perceived uncertainty and stress, contribute to a reduced quality of life, affecting both physical and emotional well-being. [ABSTRACT FROM AUTHOR]

Migration regimes in the Global North use endless waiting to discourage and govern migration. This leads to what has been described in the literature as a state of ‘waithood’. In this paper, we analyse how North African unaccompanied minors navigate the waithood they are subjected to in the asylum system in the Netherlands. We challenge the idea that waithood slows down mobility or limits it to a geographical location, and we explore mobilities that have remained unaccounted for. Based on 16 months of in-depth ethnographic fieldwork among 22 North African unaccompanied minors, we find that these young people experience alternating temporalities. While living in housing and care facilities for asylum seekers, they first experience an enforced endless present. But, dissatisfied with the endless waiting, they often leave their care facilities and engage in a period of hypermobility where they move frequently and experience time as accelerated. Through hypermobility, young people reclaim agency over time but often accumulate physical and psychological trauma in the process. The paper deepens our understanding of how the temporalities of the asylum system shape the experiences of unaccompanied minors and how youth navigate and contest such temporalities. [ABSTRACT FROM AUTHOR]

Background: Upper cervical instability (UCI) is a potentially disabling complication of the connective tissue disorders hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders (hEDS/HSD). UCI can impact various neurological structures, including the brainstem, spinal cord, cranial nerves, and blood supply to and from the brain, resulting in complex neurological signs and symptoms in this population. The current study was an observational study applying recent expert consensus recommendations for physical therapy assessment and management of patients with UCI associated with hEDS/HSD. Methods: This was a retrospective observational study describing how the clinical decision-making model was used to screen, examine, and treat three patients with highly irritable hEDS/HSD-related UCI, resulting in complex neurological presentation. The treatment used a neuroplasticity approach, including proprioception and motor control training emphasizing patient education and biofeedback. Outcome measures tracked progress. Results: All patients started with significant disability associated with UCI. One patient returned to full function with intermittent flares that he was able to manage. The second patient continued to have mild-moderate irritability but returned to parenting responsibilities and full-time work. The third patient required cervical fusion and remained disabled but was better able to minimize flares. The number of initial red and yellow flags was associated with the final outcomes, suggesting that the decision-making model might be useful for predicting patient prognosis. Conclusion: This brief report applies recent recommendations for safely evaluating and managing hypermobility-related UCI and provides a first step in experimental studies to test both the assessment and physical therapy treatment approaches. [ABSTRACT FROM AUTHOR]

Hypoglycemia in the absence of diabetes is often multifactorial and challenging to diagnose definitively. We present a case report and an expanded series of adult females with reactive hypoglycemia who were diagnosed with Ehlers-Danlos syndrome (EDS). These patients exhibited predominantly postprandial hypoglycemia, with some fasting and activity-induced episodes. Clinical findings included autonomic dysfunction, gastrointestinal symptoms, and joint hypermobility. Interventions focused on medical nutrition therapy, continuous glucose monitoring, and, in some cases, medication. Many patients continued to experience hypoglycemic episodes despite treatment. Key learning points include the potential association between hypermobile EDS and hypoglycemia, the importance of confirming the Whipple triad, and the need for multidisciplinary management. This case series highlights the need for further research into the prevalence and pathophysiology of hypoglycemia in EDS. [ABSTRACT FROM AUTHOR]

Patients with joint-hypermobility and joint-hypermobility spectrum disorders (HSD), including hypermobile Ehlers-Danlos Syndromes (EDS) present numerous co-morbid concerns, and multidisciplinary care has been recommended. The complexity of these patient's needs and increased demand for medical services have resulted in long delays for diagnosis and treatment and exhausted extant clinical resources. Strategies must be considered to ensure patient needs are met in a timely fashion. This opinion piece discusses several potential models of care for joint-hypermobility disorders, several ways in which primary providers can be involved, and argues that primary providers should be an essential and integrated part of the management of these patients, in collaboration with multidisciplinary teams and pediatric subspecialists. We review several strategies and educational opportunities that may better incorporate primary providers into the care and management of these patients, and we also discuss some of the limitations and barriers that need to be addressed to improve provision of care. This includes establishing primary care physicians as the medical home, providing initial diagnostic and treatment referrals while connecting patients with specialty care, and collaboration and coordination with multi-disciplinary teams for more complex needs. Several barriers exist that may hamper these efforts, including a lack of available specialty trainings for providers interested in providing care to patients with EDS and HSD, a lack of expertly derived consensus guidelines, and limited time resources in extant primary care practices. Also, primary providers should have an active voice in the future for the further consideration and development of these presented strategies. [ABSTRACT FROM AUTHOR]

To investigate the relationship between Beighton score and biomechanical risk factors, such as knee valgus, in female, adolescent volleyball players. Cross-sectional study. Biomechanics laboratory. 25 adolescent, club-level female volleyball athletes (14.5 ± 1.8 years) were tested between September 2021–November 2021. Participants were asked to perform a double-leg vertical jump (DLVJ), a single-leg squat (SLS), and a single-leg drop landing (SLDL). Peak coronal plane angles during the DLVJ, SLS, and SLDL were computed. Spearman correlations were performed to identify significant relationships between Beighton score and biomechanical variables. Peak knee valgus was found to be moderately correlated to Beighton score during the DLVJ-Land (r = 0.487, p = 0.014), SLDL (r = 0.478, p = 0.016), and SLS (r = 0.439, p = 0.028) tasks. Overall, adolescent volleyball players with higher Beighton scores tended to exhibit a greater peak knee valgus, suggesting that such athletes could benefit from a targeted neuromuscular training or injury prevention program. • Adolescent volleyball players performed jumping, squatting, and landing tasks. • Higher Beighton scores were correlated with increased knee valgus during all tasks. • Beighton scores were unrelated to sport participation measures. • Neuromuscular training could benefit adolescent female athletes with hypermobility. [ABSTRACT FROM AUTHOR]

Introduction: Flatfoot, or pes planus, is a postural deformity resulting from the inadequate development of the Medial Longitudinal Arch (MLA) of the foot. Generalised ligament laxity is the most important aetiological factor among various predisposing factors. Previous research has explored these conditions independently rather than investigating their potential association. This study focuses on understanding how generalised ligament laxity contributes to flexible flatfoot, which could provide valuable insights that have not been thoroughly explored in paediatric and adolescent populations. Aim: To determine the association between flexible flatfoot and generalised ligament laxity in paediatric and adolescent populations. Materials and Methods: This case-control study was conducted on 180 patients attending the Physical Medicine and Rehabilitation (PMR) Outpatient Department (OPD), aged 5 to 19 years, from September 2019 to March 2021. Footprints were taken from the subjects and a flatfoot assessment was performed using Staheli’s plantar arch index. The Jack test was conducted in all flatfoot subjects to exclude rigid flatfoot. All patients with flexible flatfoot were enrolled as cases, while those without flatfoot were enrolled in the control group. Both groups were further evaluated using the Beighton Score for the presence of generalised ligament laxity and results were recorded. Demographic factors were expressed as frequencies, and quantitative data were presented as median with 25th and 75th percentiles (IQR=interquartile range). Differences in qualitative variables between the groups were analysed using the Chi-square test. Results: Out of the 180 subjects, 126 (70%) were male, and the majority, 108 (60%), were aged 11 to 19 years, with a mean ± SD age of 11.46±3.1 years. The proportion of ligament laxity was higher in cases 30 (41.67%) than in controls 20 (18.52%), and this association was statistically significant (p-value=0.016). Patients with flatfoot had a 3.14 times higher chance of having ligament laxity than those lacking flatfoot, which was statistically significant. Conclusion: Children and adolescents with increased generalised ligament laxity are more predisposed to the development of flexible flatfoot compared to those without ligament laxity.

Abstract Background Ehlers-Danlos syndrome (EDS) is a hereditary disease characterised by joint hypermobility, skin hyperextensibility and tissue fragility. Hypermobile EDS (hEDS is the more frequent subtype. Joint surgery may benefit certain patients after failure of medical treatments, but there is no consensus on the optimal surgical management of patients with hEDS. The aims of this retrospective study were to chart the surgical management of patients with hEDS, to determine the role of arthroscopy and to evaluate the functional results of joint surgery, including the reintervention rates. Results A total of 69 patients with non-vascular EDS were evaluated (60 female; 87%). Mean (SD) age at first surgery was 25.6 ± 11.1 years. Among the 69 patients, first surgeries were carried out on the knee (n = 50; 39.4%), ankle (n = 28; 22.0%), shoulder (n = 22; 17.3%), wrist (n = 18; 14.2%) and elbow (n = 9; 7.1%). One-fifth of all first operations (20.8%) were carried out by arthroscopy, most often on the knee (36% of knee surgery cases). At the time of primary surgery, the surgeon was alerted to the diagnosis or suspicion of hEDS in only 33.9% of patients. The rate of reoperations (2 to ≥ 5) was 35.7% (10/28) for the ankle, 40.9% (9/22) for the shoulder, 44.4% (4/9) for the elbow, 50% (9/18) for the wrist and 60% (30/50) for the knee. Local or regional anaesthesia was badly tolerated or ineffective in 27.8%, 36.4% and 66.6% of operations on the wrist, shoulder and elbow, respectively. Overall, the majority of patients (> 70%) were satisfied or very satisfied with their surgery, particularly on the non-dominant side. The lowest satisfaction rate was for shoulder surgery on the dominant side (58.3% dissatisfied). Conclusions Surgery for joint instability has a greater chance of success when it is carried out in patients with a known diagnosis of EDS before surgery. The majority of patients were satisfied with their surgery and, with the exception of the knee, there was a low rate of reoperations (≤ 50%). Arthroscopic procedures have an important role to play in these patients, particularly when surgery is performed on the knee.

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Hypermobility describes the movement of joints beyond normal limits. Whether hypermobility predisposes to patellar instability is yet to be established. We aimed to determine if joint hypermobility leads to an increased risk of patellar instability, and to evaluate outcomes of treatment for patellar instability in those who exhibit hypermobility. Published and unpublished literature databases were searched to September 7, 2023. Studies comparing prevalence of patellar dislocation/differences in treatment outcomes in patients with and without hypermobility were included. We identified 18 eligible studies (4,391 patients). The evidence was low in quality. A case series on 82 patients found that there was a relationship between generalised joint laxity and patellar instability. This was corroborated by a study comparing 104 patients with patellar dislocation to 110 patients without. Prevalence of generalised joint laxity was six time higher in the former (64.4% vs 10.9%, p < 0.001). Five studies found surgical intervention aimed at correcting patellar dislocation in patients with idiopathic hypermobility led to satisfactory outcomes. There was conflicting evidence regarding if hypermobile patients have worse outcomes than non-hypermobile patients following medial patellofemoral ligament reconstruction (MPFLR) in two studies. In addition, this procedure had a 19.1% failure rate in patients with Ehlers Danlos Syndrome (EDS), with hypermobility associated with a higher failure rate (p = 0.03). One study showed the type of graft used made no difference in outcome scores or re-dislocation rates (p > 0.5). Another study had 7/31 (22.6%) autografts which failed, compared to 2/16 allografts (12.5%) (p = 0.69). Joint hypermobility is a risk factor for patellar instability. Identification of at-risk groups may aid prevention of dislocations and allow for appropriate treatment. Patients with EDS experience poor outcomes following patellar stabilization surgery, with post-operative monitoring required. [ABSTRACT FROM AUTHOR]

Background: Ehlers-Danlos syndrome (EDS) is a hereditary disease characterised by joint hypermobility, skin hyperextensibility and tissue fragility. Hypermobile EDS (hEDS is the more frequent subtype. Joint surgery may benefit certain patients after failure of medical treatments, but there is no consensus on the optimal surgical management of patients with hEDS. The aims of this retrospective study were to chart the surgical management of patients with hEDS, to determine the role of arthroscopy and to evaluate the functional results of joint surgery, including the reintervention rates. Results: A total of 69 patients with non-vascular EDS were evaluated (60 female; 87%). Mean (SD) age at first surgery was 25.6 ± 11.1 years. Among the 69 patients, first surgeries were carried out on the knee (n = 50; 39.4%), ankle (n = 28; 22.0%), shoulder (n = 22; 17.3%), wrist (n = 18; 14.2%) and elbow (n = 9; 7.1%). One-fifth of all first operations (20.8%) were carried out by arthroscopy, most often on the knee (36% of knee surgery cases). At the time of primary surgery, the surgeon was alerted to the diagnosis or suspicion of hEDS in only 33.9% of patients. The rate of reoperations (2 to ≥ 5) was 35.7% (10/28) for the ankle, 40.9% (9/22) for the shoulder, 44.4% (4/9) for the elbow, 50% (9/18) for the wrist and 60% (30/50) for the knee. Local or regional anaesthesia was badly tolerated or ineffective in 27.8%, 36.4% and 66.6% of operations on the wrist, shoulder and elbow, respectively. Overall, the majority of patients (> 70%) were satisfied or very satisfied with their surgery, particularly on the non-dominant side. The lowest satisfaction rate was for shoulder surgery on the dominant side (58.3% dissatisfied). Conclusions: Surgery for joint instability has a greater chance of success when it is carried out in patients with a known diagnosis of EDS before surgery. The majority of patients were satisfied with their surgery and, with the exception of the knee, there was a low rate of reoperations (≤ 50%). Arthroscopic procedures have an important role to play in these patients, particularly when surgery is performed on the knee. [ABSTRACT FROM AUTHOR]

Introduction: Hypermobility spectrum disorders (HSD) and hypermobile Ehlers-Danlos syndrome (hEDS) are often accompanied by varied and complex multisystemic comorbid symptoms/conditions. The Spider questionnaire was developed to evaluate the presence and impact of eight common multisystemic comorbidities. Thirty-one questions across eight symptom domains assess neuromusculoskeletal, pain, fatigue, cardiac dysautonomia, urogenital, gastrointestinal, anxiety, and depression symptoms. This study aimed to evaluate the Spider's construct validity in adults. Method: A cross-sectional observational study was conducted over four stages. Three international patient charities aided recruitment of participants through social media and website advertisements. Adults aged 18 to 65 years, with and without HSD/hEDS, were invited to participate. Validated, frequently used comparator questionnaires were used to establish convergent validity of Spider symptom domains. A control group was recruited for known-group validity analysis. Participants answered each Spider domain and the corresponding comparator questionnaire via surveys hosted by REDCap. Anonymous data were analysed using SPSS. Convergent validity was assessed through Spearman's correlational analysis and known-group validity through Mann–Whitney U analysis. Results: A total of 11,151 participants were recruited across the four stages. Statistically significant, moderate-to-strong correlations were found between all Spider domains and their comparators (p < 0.001, r = 0.63 to 0.80). Known-group validity analysis showed statistically significant differences (p < 0.001) between the hypermobile and control groups in all eight domains. Conclusions: Convergent and known-group validity of the Spider was established with adults. These results suggest the Spider can measure the presence and impact of multisystemic comorbid symptoms/conditions in adults with HSD/hEDS, providing a tool which guides multidisciplinary management. Key Points • The Spider questionnaire is a novel tool assessing the presence and impact of the multisystemic comorbid symptoms/conditions associated with HSD/hEDS. • Convergent and known-group validity of the Spider questionnaire was established in adults aged 18 to 65. • This tool provides a quick and easy method to visualise the symptom profile of those with HSD/hEDS to guide symptom management. [ABSTRACT FROM AUTHOR]

Kagami–Ogata syndrome (KOS) is a clinically recognizable syndrome in the neonatal period. It is characterized by specific skeletal anomalies and facial dysmorphisms. It is typically caused by paternal uniparental disomy of chromosome 14, while epimutations and microdeletions are less commonly reported causes. In the pediatric setting, KOS is a well delineated syndrome. However, there is a dearth of literature describing the natural history of the condition in adults. Herein, we describe a 35‐year‐old man, the first adult with KOS reported due to paternal uniparental disomy 14, and review reports of KOS in other affected adults. This highlights the variability in neurocognitive phenotypes, the presence of connective tissue abnormalities, and the uncertainties around long‐term cancer risk. [ABSTRACT FROM AUTHOR]

Background and Objectives: Hypermobility of the lateral meniscus is typically associated with the posterior part of this structure, with occurrences in the anterior part rarely reported. However, a hypermobile anterior horn of the lateral meniscus can manifest clinical symptoms. This study aimed to increase awareness regarding hypermobility in the anterior horn of the lateral meniscus by presenting its clinical presentations, magnetic resonance imaging (MRI) findings, arthroscopic findings, treatment approaches, postoperative protocols, and clinical outcomes. Materials and Methods: A retrospective case-series involving patients diagnosed as having hypermobile anterior horn of the lateral meniscus through arthroscopy. The clinical presentations, preoperative image findings, arthroscopic findings, treatments, postoperative protocols, and clinical outcomes following meniscal stabilization were all reviewed. Results: A total of 17 patients (17 knees) with a mean age of 45.9 ± 18.4 years were analyzed. The mean follow-up period was 18.2 ± 7.6 months (range, 6–24 months). Primary symptoms included anterior lateral knee pain, tenderness in the lateral joint lines, and a locking sensation in six of the knees. MRI revealed hypodense lesions anterior to the meniscus, fluid accumulation, degenerative changes, and anterior horn deformities. Following meniscal stabilization, the Lysholm Knee Scoring Scale score increased from 65.8 ± 12.7 before surgery to 91.1 ± 9.6 at the final follow-up (p < 0.001). All the analyzed knees achieved a full range of motion by the final follow-up, with no patient experiencing any complication or requiring reoperation. Conclusions: There is no specific sign or test that can be used to detect a hypermobile anterior horn of the lateral meniscus. A thorough arthroscopic examination is essential for diagnosing hypermobility in the anterior horn of the lateral meniscus. Arthroscopic meniscal stabilization yields favorable outcomes. [ABSTRACT FROM AUTHOR]

Emotional feelings are putatively ascribed to central representation of bodily states in the context of expectation and uncertainty in both internal state and external world. Neurodivergent people are more likely to experience co-occurring mental health challenges, although mechanistic insights underpinning this association are scarce. We therefore undertook a study to test whether imprecise processing of proprioceptive error signals may underlie the connection between neurodivergence and emotional dysregulation. In a cohort of people with complex chronic conditions, including chronic pain/fatigue, and complex trauma, and in a comparison group, we assessed presence of neurodivergence, variant connective tissue manifested through joint hypermobility, and emotional dysregulation. We present a data-informed conceptual model showing that variant connective tissue determines whether proprioceptive surprise is linked with emotional dysregulation in neurodivergent individuals. We suggest that future research in this area may have important clinical implications for the interaction of mental and physical wellbeing in neurodivergent people. This article is part of the theme issue 'Sensing and feeling: an integrative approach to sensory processing and emotional experience'. [ABSTRACT FROM AUTHOR]

Introduction Methods Results Conclusion Pain is a very common complaint among patients with hypermobile Ehlers‐Danlos Syndrome (hEDS) and Hypermobility Spectrum Disorders (HSDs). Often challenging to treat, insights into the underpinnings of pain in this population have been fleeting. Central sensitization (CS) has been postulated as a potential etiological factor.In this retrospective study, 82 consecutive patients with hEDS/HSDs were reviewed. Demographic information and Central Sensitization Inventory (CSI) results were collected.71 of 82 (86.5%) patients demonstrated CS. Scores ranged from 12 to 94 with a median of 56. Pain scores as measured on the numerical rating scale (NRS) ranged from 2 to 10 with a mean and median of 6.A large percentage of patients with pain and a diagnosis of hEDS/HSDs demonstrated evidence of central sensitization as measured using the CSI. The CSI is simple to administer. The CSI may provide clinical insights that are key to successfully managing patients with hEDS/HSDs. Further research is needed to explore the ability to classify pain phenotypes in this patient population and the impact on precision medicine. [ABSTRACT FROM AUTHOR]

Objective Methods Results Conclusion The aim of the study was to analyze the association between de novo urethral hypermobility 6 months postpartum and stress urinary incontinence (SUI) symptoms at 6 months and 12 years after first delivery. Risk factors associated with the development of postnatal urethral hypermobility were also examined.A longitudinal cohort study was conducted on primigravid women, after excluding those with UI before pregnancy and/or urethral hypermobility (rotational angle ≥30°) at term. At 6 months postpartum, SUI was assessed based on symptoms and introital ultrasound performed to measure rotational angle (difference between urethro‐pelvic angle at rest and at maximum Valsalva). Twelve years after delivery, women were sent a questionnaire including SUI assessment and questions on parity, current age, and body mass index. Continuous variables were compared using student's t‐test and qualitative variables using chi‐squared tests. A logistic regression model was constructed including variables that reached statistical significance (P < 0.05) in the univariate analysis.Of the 314 women who completed the 6‐month follow‐up, 265 (84.4%) were successfully contacted and completed the questionnaire at 12 years and these formed the study group. In 127 women (47.9%), de novo urethral hypermobility had developed by 6 months postpartum. There was no association between urethral hypermobility and SUI symptoms 6 months postpartum (OR: 1.17; 95% CI: 0.59–2.33). Twelve years after delivery, however, SUI was reported by 110 women overall (41.5%) and nearly half of the women who developed postnatal urethral hypermobility (61/127, 48.0%).De novo urethral hypermobility 6 months postpartum constitutes a risk factor for SUI 12 years later. [ABSTRACT FROM AUTHOR]

Current international consensus of the appropriate Beighton score cut-off to define if a child has generalised joint hypermobile or not is based upon expert opinion. Our aim was to determine the prevalence of Beighton scores of children worldwide to provide a recommendation for establishing the Beighton score cut-off to identify generalised joint hypermobility in children. We used AMED, OVID Medline, Embase and CINAHL to find published articles from inception to April 2024 describing Beighton scores of children up to and including 18 years from the general population. We extracted study demographics including country of publication, total number of participants, summary data about the age and sex of participant, Beighton scores and any cut-off used where authors deemed children hypermobile and how many children were rated at the corresponding Beighton scores. There were 37 articles reporting on the prevalence or incidence of hypermobility at cut-off scores from 28,868 participants. Using the cut-off of ≥ 6 resulted in a prevalence of 6% for studies reporting male data and 13% for studies reporting female data. Limited data reporting availability precluded further sub-analysis at a Beighton score of ≥ 7, age, pubertal status and ethnicity. Conclusion: The working threshold for identifying generalised joint hypermobility in children should be a Beighton score of 6 or more. Our analysis also suggests a Beighton score of 7 or greater may be appropriate in childhood, particularly for females. What is Known: • The working threshold for identifying generalised joint hypermobility in children previously was set based on expert opinion. What is New: • The threshold to identify hypermobility in children should be at a minimum of ≥ 6 on the Beighton score. [ABSTRACT FROM AUTHOR]

To develop a new tool for identifying joint hypermobility of the paediatric foot and ankle, based on a dichotomous scoring system utilising the Lower Limb Assessment Score (LLAS), to separate the foot and ankle items. A total of 205 children, aged between 5 and 10 years, participated in a cross-sectional study. The new tool Foot and Ankle Flexibility Index (FAFI) was predicated upon the last 7 items of LLAS, which are specific to the foot and ankle. The internal consistency was measured with Cronbach's test. Kappa statistics with 95% CI were calculated to verify the level of inter-rater and intra-rater agreement for the FAFI. Cronbach's alpha returned 0.82. The correlations between items returned a mean of 0.59 (range: 0.43–0.74). The discrimination score on the ROC curve (4 points) showed that the model can be used to identify children with joint hypermobility of the foot and ankle. Inter-rater reliability was largely good (ICC = 0.89). Excellent intra-rater reliability was found (ICC = 0.96) This study identified high reliability between evaluators, and high sensitivity and specificity, for a new reliable and valid tool for the identification of foot and ankle joint hypermobility. • FAFI is the first tool to identify foot and ankle hypermobility. • We have found a cut-off point of 4/6 with a sensitivity of 95% and a specificity of 86%. • From now on, we should discard general hypermobility tests and focus on FAFI for research in the foot and ankle area. [ABSTRACT FROM AUTHOR]

Introduction: Minimally Invasive Chevron Akin (MICA) can be used to treat hallux valgus (HV) associated with a hypermobility of the first metatarsal-cuneiform joint (1MTCJ). The aim of this study was to perform a radiographic analysis of the MICA, focused on evaluating the 1MTCJ. Methods: Forty patients (50 feet) with moderate to severe HV underwent a MICA procedure. Radiographic analysis included hallux valgus angle (HVA), intermetatarsal angles between the first and second rays (IMA), the intermetatarsal angle between the proximal fragment of the osteotomy and the second ray (IAPF) and the distance between a point 3 cm distal from the base of the second metatarsal and a point located at the same height for the first metatarsal base (Dist 1-2). The IAPF was compared with the preoperative IMA, and the other parameters were compared preoperatively and postoperatively. The radiographic complications were also recorded. Results: Most patients were female (92%). The mean age was 50.4 years (SD = 16.1) and the mean follow-up was 16.1 months (SD = 3.5). The average HVA improved from 32.5° to 7.3°, and the average IMA from 14.2° to 4.2°. The IAPF and Dist1-2 values showed an increase of 4.8° and 4.0 mm respectively. There were no radiographic complications. Conclusion. Minimally invasive Chevron Akin promotes a great correction of the moderate to severe HV conventional parameters and increase the transversal stability of the 1MTCJ fixing this joint as medial as possible. Level of Evidence: Level IV, case series [ABSTRACT FROM AUTHOR]

Exercise is a well-documented, nonpharmacologic treatment for individuals with autonomic dysfunction and associated orthostatic intolerance, such as postural tachycardia syndrome and related disorders. Exercise has been shown to increase blood volume, reverse cardiovascular deconditioning, and improve quality of life. Current first-line standard of care treatment for autonomic dysfunction combines graded approaches to exercise with medications and lifestyle modifications. However, current exercise rehabilitation protocols for postural orthostatic tachycardia syndrome contain rigid timelines and progression paradigms that often threaten tolerability and adherence. In addition, they fail to account for clinical variables potentially critical to care and lack guidance for individualization, limiting accessibility to patients with co-morbidities that affect exercise appropriateness and safety. Therefore, we introduce an adaptive approach to exercise prescription for orthostatic intolerance that allows patient-specific modifications to meet functional goals for a wider spectrum of patients, thus improving adherence. The proposed approach integrates iterative physiological and symptomatic assessments to provide flexible, yet structured, exposure to aerobic exercise and strength training to improve functional capacity and tolerance of daily activities for patients with postural tachycardia syndrome and related autonomic disorders.

Individuals with joint hypermobility and the Ehlers-Danlos Syndromes (EDS) are disproportionately affected by neuraxial dysfunction and Central Nervous System (CNS) disorders: such as Spontaneous Intracranial Hypotension (SIH) due to spinal cerebrospinal fluid (CSF) leaks, Upper Cervical Instability (UCI; including craniocervical or atlantoaxial instability (CCI/AAI)), Occult Tethered Cord Syndrome (TCS), Chiari Malformation (CM) and Idiopathic Intracranial Hypertension (IIH). The neuraxis comprises the parts of the nervous system (brain, nerves, spinal cord) along the craniospinal axis of the body. Neuraxial tissue includes all tissue structures that comprise, support, sheath, and connect along the neuraxis and peripheral nerves. Altered mechanical loading or vascular supply of neural structures can adversely impact neural health and conductivity, with local and remote effects on inflammation, venous congestion, and muscle control. With EDS characterized by altered structure of the connective tissues found throughout the body including the neural system, altered mechanical properties of the central nervous system (CNS) and its surrounding tissue structures are important considerations in the development and diagnostics of these CNS disorders, as well as response to therapeutic interventions. Experts have identified a need for neuraxial curriculum in medical education and hypermobility-adapted treatment approaches in pain management, neurosurgery, anesthesiology, hematology, gastrointestinal surgery, dermatology, cardiology, dentistry, gastroenterology, allergy/immunology, physical therapy, primary care, radiology and emergency medicine. This paper reviews the interactions between neuraxial biomechanics and pathology related to CNS disorders seen commonly with EDS. First, we provide a concise synthesis of the literature on neuraxial kinematics and fluid dynamics. We then discuss the interplay of these biomechanics and their involvement in clinically-relevant diagnoses and overlapping symptom presentations, modeling physiological reasoning to highlight knowledge gaps, support clinical decision-making, improve multidisciplinary management of hypermobility-associated complexity, and add weight to the call for medical education reform.

Introducción La laxitud en la placa volar de la articulación interfalángica proximal puede traducirse en una inestabilidad en el plano sagital por incompetencia de esta, acompañada de una hiperextensión digital con subluxación dorsal, perdida de funcionalidad y dolor.

BackgroundUpper cervical instability (UCI) is a potentially disabling complication of the connective tissue disorders hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders (hEDS/HSD). UCI can impact various neurological structures, including the brainstem, spinal cord, cranial nerves, and blood supply to and from the brain, resulting in complex neurological signs and symptoms in this population. The current study was an observational study applying recent expert consensus recommendations for physical therapy assessment and management of patients with UCI associated with hEDS/HSD.MethodsThis was a retrospective observational study describing how the clinical decision-making model was used to screen, examine, and treat three patients with highly irritable hEDS/HSD-related UCI, resulting in complex neurological presentation. The treatment used a neuroplasticity approach, including proprioception and motor control training emphasizing patient education and biofeedback. Outcome measures tracked progress.ResultsAll patients started with significant disability associated with UCI. One patient returned to full function with intermittent flares that he was able to manage. The second patient continued to have mild-moderate irritability but returned to parenting responsibilities and full-time work. The third patient required cervical fusion and remained disabled but was better able to minimize flares. The number of initial red and yellow flags was associated with the final outcomes, suggesting that the decision-making model might be useful for predicting patient prognosis.ConclusionThis brief report applies recent recommendations for safely evaluating and managing hypermobility-related UCI and provides a first step in experimental studies to test both the assessment and physical therapy treatment approaches.

The Ehlers-Danlos Syndromes (EDS) represent a group of hereditary connective tissue disorders, with the hypermobile subtype (hEDS) being the most prevalent. hEDS manifests with a diverse array of clinical symptoms and associated comorbidities spanning the musculoskeletal, neurological, gastrointestinal, cardiovascular, and immunological systems. hEDS patients may experience spinal neurological complications, including cervico-medullary symptoms arising from cranio-cervical and/or cervical instability/hypermobility, as well as tethered cord syndrome (TCS). TCS is often radiographically occult in nature, not always detectable on standard imaging and presents with lower back pain, balance issues, weakness in the lower extremities, sensory loss, and bowel or bladder dysfunction. Cervical instability due to ligament laxity can lead to headaches, vertigo, tinnitus, vision changes, syncope, radiculopathy, pain, and dysphagia. TCS and cervical instability not only share clinical features but can also co-occur in hEDS patients, posing challenges in diagnostics and clinical management. We present a review of the literature and a case study of a 20-year-old female with hEDS, who underwent surgical interventions for these conditions, highlighting the challenges in diagnosing and managing these complexities and underscoring the importance of tailored treatment strategies to improve patient outcomes. [ABSTRACT FROM AUTHOR]

Hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) are common causes of chronic musculoskeletal pain. Current practices rely on analgesics, physical therapy, bracing, and assistive devices. Dextrose prolotherapy (DPT) is a regenerative injection modality used to treat chronic painful musculoskeletal conditions through stimulation of tissue proliferation. The effectiveness of DPT for the treatment of chronic shoulder pain in patients with hEDS/HSD has not been established in the literature. Three patients with hEDS or HSD presented with refractory shoulder pain due to microinstability. Patients were treated with 20% DPT injected in the glenohumeral joint and surrounding structures as indicated. Outcomes assessed were pain and clinical improvement in joint stability at 2- to 7-week follow-up intervals. All patients reported subjective improvement in their shoulder pain and function. Disabilities of the Arm, Shoulder and Hand (DASH) scores after DPT decreased from initial assessment in all patients. Patients reported a cumulative improvement in pain and joint stability with each injection. Regenerative treatment with DPT may help restore structural integrity of affected joints and serve as an adjunctive therapy for the management of chronic shoulder pain due to microinstability in patients with hEDS/HSD. [ABSTRACT FROM AUTHOR]

The rise of transnational and transcity education consumption suggests the increasingly important role of the capability to move in order to access quality schooling. Studies have examined the multidimensional inequalities underlying translocal education consumption. However, the role of mobility itself is not sufficiently understood. Two questions are rarely asked: (1) How is the capability to move acquired and practised to bring about translocal schooling consumption? and (2) How does the disparity in the capability to move restructure the established intergenerational capital transmission mechanism conceptualized by Bourdieu? This paper answers by theorizing a mobility-mediated, education-based intergenerational capital transmission mechanism. This framework is built upon a theoretical engagement among John Urry, Pierre Bourdieu, and Neil Smith. We substantiate this framework by examining a student migration regime in Sichuan, China. Attention is paid to the inclusion/exclusion of hypermobility-based schooling consumption regime. Empirical analysis is performed by the comparison of two social groups: (a) the middle-class households who employ mobility to chase after the footloose prime schooling resources and thus materialize their class reproduction strategy and (b) the immobile remainder who are stuck in a location deprived of quality schooling resources. [ABSTRACT FROM AUTHOR]

The functional goals of cervical disc arthroplasty (CDA) are to restore enough range of motion (ROM) to reduce the risk of accelerated adjacent segment degeneration but limit excessive motion to maintain a biomechanically stable index segment. This motion-range is termed the "Physiological mobility range." Clinical studies report postoperative ROM averaged over all study subjects but they do not report what proportion of reconstructed segments yield ROM in the Physiological mobility range following CDA surgery. To calculate the proportion of reconstructed segments that yield flexion-extension ROM (FE-ROM) in the Physiological mobility range (defined as 5°-16°) by analyzing the 24-month postoperative data reported by clinical trials of various cervical disc prostheses. Analysis of 24-month postoperative FE-ROM data from clinical trials. Data from 1,173 patients from single-level disc replacement clinical trials of 7 cervical disc prostheses. 24-month postoperative index-level FE-ROM. The FE-ROM histograms reported in Food and Drug Administration-Investigational Device Exemption (FDA-IDE) submissions and available for this analysis were used to calculate the frequencies of implanted levels with postoperative FE-ROM in the following motion-ranges: Hypomobile (0°–4°), Physiological (5°–16°), and Hypermobile (≥17°). The ROM histograms also allowed calculation of the average ROM of implanted segments in each of the 3 motion-ranges. Only 762 of 1,173 patients (implanted levels) yielded 24-month postCDA FE-ROM in the physiological mobility range (5°–16°). The proportions ranged from 60% to 79% across the 7 disc-prostheses, with an average of 65.0%±6.2%. Three-hundred and two (302) of 1,173 implanted levels yielded ROM in the 0°–4° range. The proportions ranged from 15% to 38% with an average of 25.7%±8.9%. One-hundred and nine (109) of 1,173 implanted levels yielded ROM of ≥17° with a range of 2%-21% and an average proportion of 9.3%±7.9%. The prosthesis with built-in stiffness due to its nucleus-annulus design yielded the highest proportion (103/131, 79%) of implanted segments in the physiological mobility range, compared to the cohort average of 65% (p<.01). Sixty-five of the 350 (18.6%) discs implanted with the 2 mobile-core designs in this cohort yielded ROM≥17° as compared to the cohort average of 9.3% (109/1,173) (p<.05). At 2-year postCDA, the "hypomobile" segments moved on average 2.4±1.2°, those in the "physiological-mobility" group moved 9.4±3.2°, and the hypermobile segments moved 19.6±2.6°. Prosthesis design significantly influenced the likelihood of achieving FE-ROM in the physiological mobility range, while avoiding hypomobility or hypermobility (p<.01). Postoperative ROM averaged over all study subjects provides incomplete information about the prosthesis performance - it does not tell us how many implanted segments achieve physiological mobility and how many end up with hypomobility or hypermobility. We conclude that the proportion of index levels achieving postCDA motions in the physiological mobility range (5°–16°) is a more useful outcome measure for future clinical trials. [ABSTRACT FROM AUTHOR]

Background: The Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders characterized by disruptions in collagen synthesis and processing. These disorders lead to various symptoms, including hypermobility, musculoskeletal conditions, and chronic pain that can significantly limit patients' daily living. In the absence of a curative treatment, an EDS specific disability index that tracks changes in patient-reported outcomes can facilitate the investigation of new treatment options and enhance the quality of life for EDS patients. Methods: An EDS-specific disability index was created using survey data and input from clinicians. A total of 222 EDS patients in a multidisciplinary clinical program completed the index during their initial visit. Exploratory and confirmatory factor analyses were conducted to determine the index's factor solution and assess its goodness-of-fit. Paired t-tests were performed with follow-up visit data collected over the course of one year. Results: The exploratory and confirmatory factor analyses indicated a two-factor solution, accounting for 42.40% of the variance. The index demonstrated adequate fit to the data, supported by Tucker and Lewis's index (0.85) and root mean square error of approximation (0.1). Data from follow-up visits showed significant improvement in three symptom related variables and one function related variable in addition to the total score and the symptom subscale score when compared to the initial visit. Conclusion: The development of an EDS-specific disability index is a crucial step in creating a clinical tool that enables healthcare professionals to gain a deeper understanding of the impact EDS has on patients' lives and potentially identify new therapeutic interventions. [ABSTRACT FROM AUTHOR]

Background: The natural history of spinal muscular atrophy (SMA) is well understood, with progressive muscle weakness resulting in declines in function. The development of contractures is common and negatively impacts function. Clinically, joint hypermobility (JH) is observed but is poorly described, and its relationship with function is unknown. Methods: Lower-limb ROM (range of motion) assessments of extension and flexion at the hip, knee, and ankle were performed. ROMs exceeding the published norms were included in the analysis. The functional assessments performed included the six-minute walk test (6 MWT) and the Hammersmith Functional Motor Scale—Expanded (HFMSE). Results: Of the 143 participants, 86% (n = 123) had at least one ROM measure that was hypermobile, and 22% (n = 32) had three or more. The HFMSE scores were inversely correlated with hip extension JH (r = −0.60, p = 0.21; n = 6) and positively correlated with knee flexion JH (r = 0.24, p = 0.02, n = 89). There was a moderate, inverse relationship between the 6 MWT distance and ankle plantar flexion JH (r = −0.73, p = 0.002; n = 15). Conclusions: JH was identified in nearly all participants in at least one joint in this study. Hip extension, knee flexion and ankle plantar flexion JH was associated with function. A further understanding of the trajectory of lower-limb joint ROM is needed to improve future rehabilitation strategies. [ABSTRACT FROM AUTHOR]

Objective: To synthesize the evidence on conservative interventions for shoulder symptoms in hypermobile Ehlers-Danlos Syndrome (hEDS) and hypermobility spectrum disorder (HSD). Data Sources: A literature search was conducted using data sources Medline, PEDro, CINAHL, AMED, Elsevier Scopus, and the Cochrane Library from January 1998 to June 2023. Study Selection: The review included primary empirical research on adults diagnosed with hEDS or HSD who experienced pain and/or mechanical shoulder symptoms and underwent conservative interventions. Initially, 17,565 studies were identified, which decreased to 9668 after duplicate removal. After title and abstract screening by 2 independent authors, 9630 studies were excluded. The full texts of the remaining 38 were assessed and 34 were excluded, leaving 4 articles for examination. Data Extraction: Two authors independently extracted data using a predefined extraction table. Quality assessment used the Joanna Briggs Institute checklists and the Template for Intervention Description and Replication. Data Synthesis: The review covered 4 studies with a total of 7 conservative interventions, including exercise programs, kinesiology taping, and elasticized compression orthoses. Standardized mean differences were calculated to determine intervention effects over time. The duration of interventions ranged from 48 hours to 24 weeks, showing positive effect sizes over time in the Western Ontario Shoulder Instability Index, pain levels, improved function in activities of daily living, and isometric and isokinetic strength. Small to negligible effect sizes were found for kinesiophobia during completion of exercise programs. Conclusions: Shoulder symptoms in hEDS/HSD are common, yet significant gaps in knowledge remain regarding conservative interventions, preventing optimal evidence-based application for clinicians. Further research is necessary to explore the most effective intervention types, frequencies, dosages, and delivery methods tailored to the specific requirements of this patient population.

Neurology and connective tissue are intimately interdependent systems and are critical in regulating many of the body’s systems. Unlocking their multifaceted relationship can transform clinical understanding of the mechanisms involved in multisystemic regulation and dysregulation. The fascial system is highly innervated and rich with blood vessels, lymphatics, and hormonal and neurotransmitter receptors. Given its ubiquity, fascia may serve as a “watchman,” receiving and processing information on whole body health. This paper reviews what constitutes fascia, why it is clinically important, and its contiguous and interdependent relationship with the nervous system. Unquestionably, fascial integrity is paramount to human locomotion, interaction with our environment, bodily sense, and general physical and emotional wellbeing, so an understanding of the fascial dysregulation that defines a range of pathological states, including hypermobility syndromes, autonomic dysregulation, mast cell activation, and acquired connective tissue disorders is critical in ensuring recognition, research, and appropriate management of these conditions, to the satisfaction of the patient as well as the treating practitioner.

Introduction: Joint hypermobility (JH) is mobility beyond the normal range of motion. JH can be an isolated finding or a characteristic of a syndrome. Characteristics related to the sitting position with atypical body positions, such as sitting in splits (S), with the foot on the head (F), in W (W), in a concave shape (C), episodes of dislocations, and subluxations, suggest impacts on body mechanics since childhood, with damage to the conformation of the joints. Objectives: Identify preclinical signs of JH, in addition to Beighton Score (BS), through signs that are easily recognized early by pediatricians and family members to avoid possible joint deformities in the future. Methods: The medical records of 124 children (59.7% girls) between one and nine years old were analyzed. JH was assessed using the BS, a history of luxations/subluxations, and the concave (C), “W”, “splits” (S), and foot (F) on head sitting positions. Results: The concave sitting position was the most common, followed by W, F, and S in decreasing order. A total of 52.4% of the children had BS > 6, with a higher prevalence among girls (60.8%) compared to boys (40.0%); a difference statistically significant (p = 0.024, Fisher’s exact test). Thirty-two patients (27.4%) had luxations/subluxations with the higher scores. Conclusions: Sitting in S, F, W, and C positions are preclinical phenotypic characteristics of JH, easily identified by pediatricians and family members to prevent possible joint deformities. BS ≥ 6 is more frequently observed in all positions. The majority of the total sample has BS > 6, with a significant female gender influence. Among those with a history of occasional joint dislocations and subluxations, half of them have the highest BS scores.

Recent studies have emphasized the importance of dynamic activity in the development of myelopathy. However, current knowledge of how degenerative factors affect the spinal cord during motion is still limited. This study aimed to investigate the effect of various types of preexisting herniated cervical disc and the ligamentum flavum ossification on the spinal cord during cervical flexion and extension. A detailed dynamic fluid-structure interaction finite element model of the cervical spine with the spinal cord was developed and validated. The changes of von Mises stress and maximum principal strain within the spinal cord in the period of normal, hyperflexion, and hyperextension were investigated, considering various types and grades of disc herniation and ossification of the ligamentum flavum. The flexion and extension of the cervical spine with spinal canal encroachment induced high stress and strain inside the spinal cord, and this effect was also amplified by increased canal encroachments and cervical hypermobility. The spinal cord might evade lateral encroachment, leading to a reduction in the maximum stress and principal strain within the spinal cord in local-type herniation. Although the impact was limited in the case of diffuse type, the maximum stress tended to appear in the white matter near the encroachment site while compression from both ventral and dorsal was essential to make maximum stress appear in the grey matter. The existence of canal encroachment can reduce the safe range for spinal cord activities, and hypermobility activities may induce spinal cord injury. Besides, the ligamentum flavum plays an important role in the development of central canal syndrome. Significance. This model will enable researchers to have a better understanding of the influence of cervical degenerative diseases on the spinal cord during extension and flexion. [ABSTRACT FROM AUTHOR]

Purpose: Females with above‐average anterior knee laxity values are at increased risk of anterior cruciate ligament (ACL) injury. The purpose of this study was to examine the effects of menarche age (MA) and menarche offset on anterior knee laxity in young, physically active women. Methods: Anterior knee laxity (KT‐2000) and menstrual characteristics (per self‐report) were recorded in 686 Slovenian sportswomen from team handball, volleyball and basketball club sports (average years sport participation: 7.3 ± 3.6 years). Females were stratified into four groups based on their self‐reported age at menarche: 9–11, 12, 13 and 14+ years. Anterior knee laxity was compared across MA groups using a univariate analysis of variance (ANOVA) with Bonferroni correction, with and without controlling for factors that could potentially differ between groups and influence anterior knee laxity. Females were then stratified into four groups based on the number of years they were away from their age at onset of menarche. Groups were compared using a univariate ANOVA with Bonferroni correction, with and without controlling for factors that differed between groups and could influence anterior knee laxity. Results: Anterior knee laxity was greater in females who attained menarche at 12 years of age (6.4 ± 1.5 mm) or younger (6.6 ± 1.6 mm) compared to 14 years of age or older (5.8 ± 1.2 mm) (p < 0.001; partial η2 = 0.032). Anterior knee laxity was 0.7–1.4 mm greater in females who were 5 or more years away from menarche compared to those who were within 2 years of menarche (5.8 ± 1.3 mm; p < 0.001). Conclusion: Anterior knee laxity is greater in females who attained menarche at a younger age and in females who are 5 or more years postmenarche. Age of menarche represents a critical pubertal event that is easy for women to recall and may provide important insights into factors that moderate anterior knee laxity, a risk factor for ACL injury in women. Level of Evidence: Level IV. [ABSTRACT FROM AUTHOR]

Background Previous research has reported that people with Joint Hypermobility Syndrome (JHS) and Ehlers-Danlos Syndrome (EDS) generally experience a high rate of muscular injury and pain. However, there is limited research comparing the recovery times and length of Delayed Onset Muscle Soreness (DOMS) in individuals with JHS to non-hypermobile individuals in response to exercise. Hypotheses/Purpose The purpose of this study was to investigate JHS and its effects on DOMS and its recovery time. Study Design Quasi-experimental, observational comparison Methods Two groups including a hypermobile group (score >4 on Beighton Scale) and a non-hypermobile group all took part in five-second long standing eccentric bicep curls based using their one- repetition maximum (1-RM) of their dominant arm to failure in order to induce DOMS. Visual analog pain scale (VAS), McGill pain scale, resting arm angle, girth, and the pressure pain threshold, all domains of DOMS, were measured over a five-day period. Results were analyzed using ANOVA with time as the repeated factor. Results Both groups experienced DOMS following the eccentric exercise. However, VAS reporting was significantly greater in the hypermobile group compared to the non-hypermobile group and there was a significant difference over time. However, other variables did not reveal any other significant findings between groups. Conclusion Individuals with JHS may experience greater DOMS and require more time to recover between treatment sessions. Therapists need to be aware that patients with hypermobility may experience higher pain levels related to exercise, and they need to adjust treatment parameters appropriately. Level of Evidence 2b [ABSTRACT FROM AUTHOR]

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Objective: The aim was to study laryngological complaints in patients with hypermobile Ehlers‐Danlos syndrome (hEDS) or hypermobility spectrum disorders (HSD). Methods: A total of 363 patients met inclusion for the study by completing questions related to voice, upper airway, and swallowing between July 7, 2020 and July 13, 2022. Demographic data, voice‐related questions, and hypermobility diagnosis were analyzed retrospectively. From those, 289 patients were diagnosed with hEDS or HSD with 74 that did not meet the diagnostic criteria for either diagnosis serving as controls. Results: There were no statistically significant differences between patients with hEDS and HSD regarding Voice Handicap Index (VHI‐10) scores, voice, upper airway, or swallow complaints. However, more hEDS/HSD patients answered positively to the laryngeal dysfunction question versus controls (p = 0.031). 22.5% of hEDS/HSD patients (n = 65) reported hoarseness, of which 52.3% reported hoarseness >2 days/month. 33.9% (n = 98) with hEDS/HSD reported symptoms of dysphagia, and 27.0% (n = 78) reported laryngeal dysfunction symptoms. Controls demonstrated 20.3% prevalence of hoarseness, of which 46.7% reported hoarseness >2 days/month. 24.3% of controls had dysphagia and 14.9% laryngeal dysfunction symptoms. Of the 363 patients, VHI‐10 scores >11 were more likely in patients reporting >2 days of hoarseness/month (p = 0.001) versus those with <2 days of hoarseness/month. There was an increased prevalence of voice, upper airway, and dysphagia symptoms in hEDS/HSD patients compared with previously reported prevalence data in the general population. Conclusion: A significant proportion of patients diagnosed with hypermobility due to hEDS or HSD were found to have voice, upper airway, and dysphagia symptoms. These rates are higher than those previously reported in the general population. Level of Evidence: 3 Laryngoscope, 134:773–778, 2024 [ABSTRACT FROM AUTHOR]