Joint hypermobility syndromes, particularly chronic pain associated with this condition, including Hypermobile Ehlers-Danlos Syndrome (hEDS) and Hypermobility Spectrum Disorders (HSD), present diagnostic challenges due to their multifactorial origins and remain poorly understood from biomechanical and genomic-molecular perspectives. Recent diagnostic guidelines have differentiated hEDS, HSD, and benign joint hypermobility, providing a more objective diagnostic framework. However, incorrect diagnoses and underdiagnoses persist, leading to prolonged journeys for affected individuals. Musculoskeletal manifestations, chronic pain, dysautonomia, and gastrointestinal symptoms illustrate the multifactorial impact of these conditions, affecting both the physical and emotional well-being of affected individuals. Infrared thermography (IRT) emerges as a promising tool for joint assessment, especially in detecting inflammatory processes. Thermal distribution patterns offer valuable insights into joint dysfunctions, although the direct correlation between pain and inflammation remains challenging. The prevalence of neuropathies among hypermobile individuals accentuates the discordance between pain perception and thermographic findings, further complicating diagnosis and management. Despite its potential, the clinical integration of IRT faces challenges, with conflicting evidence hindering its adoption. However, studies demonstrate objective temperature disparities between healthy and diseased joints, especially under dynamic thermography, suggesting its potential utility in clinical practice. Future research focused on refining diagnostic criteria and elucidating the underlying mechanisms of hypermobility syndromes will be essential to improve diagnostic accuracy and enhance patient care in this complex and multidimensional context.

BACKGROUND: Functional Neurological Disorder (FND) is associated with anxiety and depression, and perhaps with joint hypermobility, which is itself associated with anxiety and depression. We conducted a survey to explore the relationship between these.
METHODS: An online survey of people with FND was conducted, with participants asked to nominate healthy controls from their social group to join. Participants were asked about their anxiety (measured with GAD7), depression (measured with PHQ9) and joint hypermobility (measured with 5PQ). A regression analysis was conducted using a general linear model.
RESULTS: 215 people with FND and 22 people without FND were included in the analysis. GAD7, PHQ9 and hypermobility scores were all higher in the group with FND, with 74% of people with FND meeting the common cut-off for a diagnosis of joint hypermobility syndrome, as compared with 45% of those without FND. Anxiety, depression and joint hypermobility scores all predicted FND status, with joint hypermobility the strongest. Hypermobility moderated the effect of anxiety, with the effect being stronger at lower levels of anxiety.
CONCLUSIONS: While anxiety, depression and hypermobility symptoms each appear to contribute to FND, the role of anxiety is moderated by hypermobility, particularly when anxiety is lower.

The gastrointestinal (GI) manifestations in children with hypermobile Ehlers-Danlos syndrome/joint hypermobility syndrome (hEDS/JHS) are not well described. We investigated the prevalence of GI disorders in children and young adults with hEDS/JHS through a single-center retrospective review. Demographic data, clinical history, symptoms, and diagnostic studies were reviewed. Of 435 patients with hEDS/JHS, 66% were females (age 5-28 years). We noted a high prevalence of constipation (61%), dysphagia (32%), dyspepsia and/or gastroparesis (25%), eosinophilic esophagitis (EoE) (21%), and celiac disease (4%) in our cohort. Upper endoscopy and gastric emptying scans had the highest yield to detect abnormalities. Motility studies were abnormal in 31% of the 80 patients who underwent them. Dysphagia symptoms are significantly associated with EoE. Thirty-three percent of dysphagia patients had EoE, versus 16% of non-dysphagia patients (p < 0.001). Screening hEDS/JHS patients for GI issues should be routine, with further investigations and referrals guided by identified symptoms.

BACKGROUND: Data on median arcuate ligament syndrome (MALS) in children are scant. It is postulated that MALS can cause chronic abdominal pain. It is unclear what percentage of children with this condition are symptomatic and what comorbidities are associated with this syndrome.
METHODS: In this retrospective study, data on consecutive patients in a single center diagnosed coincidentally with MALS during routine echocardiogram were reviewed. Symptom burden, comorbidities, and the effect of anthropometric indices on MALS were investigated. Descriptive statistics and nonparametric tests were used to describe the findings and to compare variables with normal distribution.
RESULTS: Between 2013 and 2020, there were 82 children, 55 females (67%), mean age 13.9 ± 3.2 years, with MALS and complete record. Mean velocity across the stenotic area was 2.6 ± 0.4 m/s. Forty-six patients (57%) had abdominal pain. Age, gender, weight, body mass index (BMI), and Doppler velocity had no statistically significant influence on symptom occurrence. Conversely, patients with joint hypermobility and symptoms of orthostatic intolerance were more likely to have abdominal pain from MALS. Of 24 patients with joint hypermobility, 18 patients had abdominal pain (p=0.027). Thirty-eight patients with orthostatic intolerance (OI) with MALS complained of abdominal pain vs 13 patients with OI and no abdominal pain (p=<0.0001).
CONCLUSIONS: Nearly half of patients with MALS had abdominal pain. Age, gender, weight, and the degree of stenosis had no statistically significant influence on symptom occurrence. OI, specifically postural orthostatic tachycardia syndrome (POTS), and joint hypermobility on exam predicted a higher propensity for abdominal pain in patients with MALS.

OBJECTIVE: Joint hypermobility is a physiological variation in the joint range of motion that allows individuals to move their joints beyond the normal limit. Generalized joint hypermobility (GJH) refers to an increased flexibility observed throughout various joints in the body. In younger individuals, joint hypermobility is often more pronounced, serving as a double-edged sword by providing enhanced flexibility for certain activities while simultaneously increasing the susceptibility to musculoskeletal issues. Weight gain and overactivity of joints (joint hypermobility) are associated with the onset of osteoarthritis (OA), and data for the local populace is lacking. This study aims to assess GJH and OA in young and middle-aged women in southern Lahore.
METHODS: A cross-sectional study recruited 116 diagnosed OA patients through a random convenient sampling method. These patients were assessed for GJH using the Beighton criterion. For the assessment of GJH, the Beighton criterion was used, and for OA, radiographs of knee joints were taken. The Beighton criterion consists of nine movements, and each maneuver is assigned a score of either 0 or 1, resulting in a range from 0 to 9. A chi-square test was used for the group comparison of study variables.
RESULTS: A total of 116 adult females participated, with a mean age of 38.34 ± 9.761 and an age range of 20 to 55 years. GJH was assessed and correlated with age using the chi-square correlation and test. Results indicated that 78 (67.24%) exhibited hypermobility at various joint levels, with a likelihood ratio of 43.336 and a P-value of <0.001. GJH and BMI were correlated by employing Pearson chi-square correlation, with Pearson chi-square of 2.51 and P-value of 0.112 suggestive of no significant association between BMI and GJH.
CONCLUSIONS: The dynamic nature of joint hypermobility emphasizes the need to consider age-related changes when assessing its impact on musculoskeletal health. Assessment and management of hypermobility in patients of OA, especially in females, should be made part of routine practices.

UNASSIGNED: Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is a chronic, multifaceted disease that affects millions globally. Despite its significant impact, the disease\'s etiology remains poorly understood, and symptom heterogeneity poses challenges for diagnosis and treatment. Joint hypermobility, commonly seen in hypermobile Ehlers-Danlos Syndrome (hEDS), has been observed in ME/CFS patients but its prevalence and clinical significance within this population are not well-characterized.
UNASSIGNED: To compare the characteristics of ME/CFS patients with and without joint hypermobility (JH+ and JH-) as assessed using the Beighton scoring system, and to explore whether JH+ ME/CFS patients exhibit distinct disease characteristics, comorbidities, and health-related quality of life (HRQOL).
UNASSIGNED: The study used cross-sectional, self-reported data from 815 participants of the You + ME Registry. Participants were categorized as JH+ or JH- based on self-assessed Beighton scores and compared across demographics, comorbidities, family history, and symptoms. HRQOL was assessed using the Short Form-36 RAND survey and Karnofsky Performance Status.
UNASSIGNED: 15.5% (N = 126) of participants were classified as JH+. JH+ participants were more likely to be female, report Ehlers-Danlos Syndrome (EDS), Postural Orthostatic Tachycardia Syndrome (POTS), and a family history of EDS. They experienced worse HRQOL, particularly in physical functioning and pain, and a higher number of autonomic, neurocognitive, headache, gut, and musculoskeletal symptoms. Sensitivity analysis suggested that ME/CFS with concurrent JH+ and EDS was associated with more severe symptoms and greater functional impairment.
UNASSIGNED: ME/CFS patients with joint hypermobility, particularly those with EDS, demonstrate distinct clinical characteristics, including more severe symptomatology and reduced HRQOL. These findings highlight the need for comprehensive clinical assessments of ME/CFS patients with joint hypermobility. Understanding these relationships could aid in subgroup identification, improving diagnosis, and informing targeted therapeutic approaches. Further research is warranted to explore these associations and their implications for clinical practice.

BACKGROUND: 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.
METHODS: We analyzed 124 medical records of one- to nine-year-old children with JH by BS.
RESULTS: 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.
CONCLUSIONS: 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.

BACKGROUND: Very little is known about the characteristics of echocardiographic abnormalities and joint hypermobility in Chinese patients with osteogenesis imperfecta (OI). The aim of our study was to investigate the characteristics, prevalence and correlation of echocardiographic abnormalities and joint hypermobility in Chinese patients with OI.
METHODS: A cross-sectional comparative study was conducted in pediatric and adult OI patients who were matched in age and sex with healthy controls. Transthoracic echocardiography was performed in all patients and controls, and parameters were indexed for body surface area (BSA). The Beighton score was used to evaluate the degree of joint hypermobility.
RESULTS: A total of 48 patients with OI (25 juveniles and 23 adults) and 129 age- and sex-matched healthy controls (79 juveniles and 50 adults) were studied. Four genes (COL1A1, COL1A2, IFITM5, and WNT1) and 39 different mutation loci were identified in our study. Mild valvular regurgitation was the most common cardiac abnormality: mild mitral and tricuspid regurgitation was found in 12% and 36% of pediatric OI patients, respectively; among 23 OI adults, 13% and 17% of patients had mild mitral and tricuspid regurgitation, respectively, and 4% had mild aortic regurgitation. In multiple regression analysis, OI was the key predictor of left atrium diameter (LAD) (β=-3.670, P < 0.001) and fractional shortening (FS) (β = 3.005, P = 0.037) in juveniles, whereas for adults, OI was a significant predictor of LAD (β=-3.621, P < 0.001) and left ventricular mass (LVM) (β = 58.928, P < 0.001). The percentages of generalized joint hypermobility in OI juveniles and adults were 56% and 20%, respectively. Additionally, only in the OI juvenile group did the results of the Mann‒Whitney U test show that the degree of joint hypermobility was significantly different between the echocardiographic normal and abnormal groups (P = 0.004).
CONCLUSIONS: Mild valvular regurgitation was the most common cardiac abnormality in both OI juveniles and adults. Compared with OI adults, OI juveniles had more prevalent and wider joint hypermobility. Echocardiographic abnormalities may imply that the impairment of type I collagen is more serious in OI. Baseline echocardiography should be performed in OI patients as early as possible.

Joint hypermobility is a spectrum of symptoms associated with connective tissue disorders. The main feature is the increased range of joint mobility. Hypermobility is rarely recognised in clinical practice. The diagnosis is based on the evaluation of diagnostic tests, mainly the Beighton score. The divergence of research methods means that patients do not receive a proper diagnosis and treatment.
The study used the Beighton score and the Sachse scale. Both tests are \"all-or-none-tests\". Non-parametric correlations were used to assess the concordance effect. To this end, two methods were adopted, i.e., the Spearman Rank Correlation and Kendall tau Rank Correlation. The values of correlation coefficients were calculated, respectively, rho and Kendall tau. The study involved 30 women working as fitness instructors.
Consent results of hypermobility assessment for both methods were obtained in 3 cases, while the discrepancy in the hypermobility statement concerns measurements made in 10 participants. This cursory assessment already indicates a significant differentiation of results obtained for both methods.
To the best of our knowledge, there are not many studies comparing different HSD diagnostic methods. The Beighton score is the most commonly used, but the selection of only 5 joints for the examination does not show the systemic nature of hypermobility. A reliable methodology should be based not only on goniometric measurements of selected joints.
The expanded correlation analysis of Beighton and Sachse hypermobility tests indicates their poor compliance. Therefore, there is a need to standardise hypermobility spectrum disorder diagnostics, which may affect the objectification and credibility of these diagnostics.

The etiology of anorexia nervosa (AN) remains to be fully elucidated, and current theories also fail to account for the direct effect of starvation on the health of the organs and tissues, specifically the connective tissue present in most organs of the body. Individuals with hereditary disorders of connective tissue manifest with clinical symptoms that overlap with AN, as the abnormal connective tissue also contributes to many of the other extra-articular manifestations of these hereditary disorders. This article hypothesizes that a similar pathophysiology may also contribute to the clinical presentation of AN. Therefore, a better understanding is needed to elucidate: (1) the relationship between abnormal connective tissue and AN, (2) the impact of starvation toward the development of abnormal connective tissue and how this manifests clinically, (3) the etiology of autonomic nervous system changes contributing to the dysautonomia in AN, and (4) how the sensory signals sent from potentially abnormal connective tissue to the central nervous system impact interoception in AN. A conceptual model incorporating abnormal connective tissue is provided. PUBLIC SIGNIFICANCE: The etiology of AN remains poorly understood and current theories fail to account for the direct impact of starvation on the health of the organs and tissues of the body. There is significant clinical overlap between AN and hereditary connective tissue disorders. This paper attempts to provide a new conceptual model for AN in which abnormal connective tissue contributes to the underlying pathogenesis.