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Back pain in young people (14–35 years old) may have causes rooted in adolescence or even earlier childhood. Diagnosis in this case can present considerable difficulties for a therapist and general practitioner, since “nonspecific back pain” may hide pathological conditions inherent in childhood. The degree of compensation for scoliosis, hereditary abnormalities in the development of the spine, the severity of early degenerative processes, and metabolic diseases of the skeleton that were not identified during school years determine a non-standard scope of diagnostic and therapeutic measures for the doctor. These include collecting a family history and screening the patient for the presence of inflammatory back pain according to the 2009 ASAS criteria, a survey on the hospital anxiety and depression scale, a morphometric assessment of the stigma of dysembryogenesis and an assessment of hypermobility syndrome, advanced laboratory diagnostics with determination of indicators of mineral-calcium metabolism, X-ray diagnostics with functional tests, the use of magnetic resonance imaging or computed tomography of the spine in the absence of radicular symptoms. The patient’s active involvement in non-drug restorative treatment significantly improves his prognosis, and pharmacological support should have a health-saving direction and consider the presence of low-intensity inflammation in the pathogenesis of the disease. The choice of therapy for a reproductively active cohort of patients is made in favor of drugs with the maximum safety profile, which include, among others, selective non-steroidal anti-inflammatory drugs.

The purpose of the study was to identify any evidence of different patterns of disease for Ehlers Danlos Syndrome (EDS) and Hypermobility Syndrome (JHS) in the White British and South Asian communities in England. The numbers of hospital in-patients in ten NHS Trusts, between 2016 and 2020, in whom a diagnosis of EDS or JHS had been recorded were identified through Freedom of Information (FOI) requests. The condition was either the primary diagnosis or a secondary one, incidental to the reason for admission. The ten Trusts were selected because they served areas with a significant South Asian population and had been involved in previous studies of discrimination in the delivery of care. The study also assessed whether there was evidence of any of the Trusts underserving their South Asian community with lesser levels of recognition of EDS and JHS. Overall South Asian patients were almost four times more likely to have been diagnosed as having JHS. This proportion was statistically significant (z = -11.69, p

Hypermobility involves excessive flexibility and systemic manifestations of connective tissue fragility. We propose a folate-dependent hypermobility syndrome model based on clinical observations, and through a review of existing literature, we raise the possibility that hypermobility presentation may be dependent on folate status. In our model, decreased methylenetetrahydrofolate reductase (MTHFR) activity disrupts the regulation of the ECM-specific proteinase matrix metalloproteinase 2 (MMP-2), leading to high levels of MMP-2 and elevated MMP-2-mediated cleavage of the proteoglycan decorin. Cleavage of decorin leads ultimately to extracellular matrix (ECM) disorganization and increased fibrosis. This review aims to describe relationships between folate metabolism and key proteins in the ECM that can further explain the signs and symptoms associated with hypermobility, along with possible treatment with 5-methyltetrahydrofolate supplementation.

Background: Rapid advances in mobile apps for clinical data collection for pain evaluation have resulted in more efficient data handling and analysis than traditional paper-based approaches. As paper-based visual analogue scale (p-VAS) scores are commonly used to assess pain levels, new emerging apps need to be validated prior to clinical application with symptomatic children and adolescents. Objective: This study aimed to assess the validity and reliability of an electronic visual analogue scale (e-VAS) method via a mobile health (mHealth) App in children and adolescents diagnosed with hypermobility spectrum disorder/hypermobile Ehlers-Danlos syndrome (HSD/HEDS) in comparison with the traditional p-VAS. Methods: Children diagnosed with HSD/HEDS aged 5-18 years were recruited from a sports medicine center in Sydney (New South Wales, Australia). Consenting participants assigned in random order to the e-VAS and p-VAS platforms were asked to indicate their current lower limb pain level and completed pain assessment e-VAS or p-VAS at one time point. Instrument agreement between the 2 methods was determined from the intraclass correlation coefficient (ICC) and through Bland-Altman analysis. Results: In total, 43 children with HSD/HEDS aged 11 (SD 3.8) years were recruited and completed this study. The difference between the 2 VAS platforms of median values was 0.20. Bland-Altman analysis revealed a difference of 0.19 (SD 0.95) with limits of agreement ranging -1.67 to 2.04. An ICC of 0.87 (95% CI 0.78-0.93) indicated good reliability. Conclusions: These findings suggest that the e-VAS mHealth App is a validated tool and a feasible method of collecting pain recording scores when compared with the traditional paper format in children and adolescents with HSD/HEDS. The e-VAS App can be reliably used for pediatric pain evaluation, and it could potentially be introduced into daily clinical practice to improve real-time symptom monitoring. Further research is warranted to investigate the usage of the app for remote support in real clinical settings. [ABSTRACT FROM AUTHOR]

The purpose of the study was to identify any evidence of different patterns of disease for Ehlers Danlos Syndrome (EDS) and Hypermobility Syndrome (JHS) in the White British and South Asian communities in England. The numbers of hospital in-patients in ten NHS Trusts, between 2016 and 2020, in whom a diagnosis of EDS or JHS had been recorded were identified through Freedom of Information (FOI) requests. The condition was either the primary diagnosis or a secondary one, incidental to the reason for admission. The ten Trusts were selected because they served areas with a significant South Asian population and had been involved in previous studies of discrimination in the delivery of care. The study also assessed whether there was evidence of any of the Trusts underserving their South Asian community with lesser levels of recognition of EDS and JHS. Overall South Asian patients were almost four times more likely to have been diagnosed as having JHS. This proportion was statistically significant (z = -11.69, p <0.00001). In Burton and Derby, Cambridge and Leicester the proportion of South Asian patients diagnosed as having EDS was significantly lower than in other Trusts (z = 9.4, p <0.00001). This was also the case for JHS (z = 8.09, p < 0.00001). This would indicate that in these three Trusts both conditions are underdiagnosed in the South Asian community. The significance of these findings is discussed. [ABSTRACT FROM AUTHOR]

Background: Cervical proprioception and muscle endurance are essential for maintaining cervical functional joint stability. Proprioception and muscle endurance may be impaired in those with general joint hypermobility (GJH). Examining these aspects is crucial. This study's aims are to (1) compare the cervical joint position error (JPE) and muscle endurance holding capacities in GJH individuals with and without non-specific neck pain (NSNP) (2) to assess the relationship between hypermobility Beighton scores, cervical JPE's, and muscle endurance in GJH individuals with and without NSNP. Methods: In this cross-sectional comparative study, 33 GJH participants with NSNP (mean age 21.7 ± 1.8 years) and 35 asymptomatic participants GJH (mean age 22.42 ± 1.7 years) participated. Beighton's score of =4 of 9 tests was used as criteria to diagnose GJH. Cervical JPEs were estimated in degrees using a cervical range of motion device, and muscle endurance (flexor and extensor) were estimated in seconds using a stopwatch. Results: GJH participants with NSNP showed significantly larger cervical JPEs (p < 0.001) and decreased muscle endurance holding times (p < 0.001) compared to asymptomatic participants. Beighton hypermobility scores showed a significant moderate positive correlation with cervical JPEs (flexion: r = 0.43, p = 0.013), left rotation: r = 0.47, p = 0.005, right rotation: r = 0.57, p = 0.001) in NSNP individuals. Also, Beighton hypermobility scores showed a moderate negative correlation with muscle endurance in NSNP (flexor muscles: r = -0.40, p = 0.020, extensor muscles: r = -0.41, p = 0.020, and asymptomatic individuals (flexor muscles: -0.34, p = 0.045, extensor muscles: r = -0.45, p = 0.007). Conclusion: GJH individuals with NSNP showed increased cervical JPEs and reduced muscle endurance compared to asymptomatic. Individuals with GJH with higher Beighton scores demonstrated increased cervical JPEs and reduced neck muscle endurance holding ability. In clinical practice, therapists should be aware of these findings, incorporate proprioceptive and muscle endurance assessments, and formulate rehabilitation strategies for NSNP individuals with GJM. [ABSTRACT FROM AUTHOR]

Background Cervical proprioception and muscle endurance are essential for maintaining cervical functional joint stability. Proprioception and muscle endurance may be impaired in those with general joint hypermobility (GJH). Examining these aspects is crucial. This study’s aims are to (1) compare the cervical joint position error (JPE) and muscle endurance holding capacities in GJH individuals with and without non-specific neck pain (NSNP) (2) to assess the relationship between hypermobility Beighton scores, cervical JPE’s, and muscle endurance in GJH individuals with and without NSNP. Methods In this cross-sectional comparative study, 33 GJH participants with NSNP (mean age 21.7 ± 1.8 years) and 35 asymptomatic participants GJH (mean age 22.42 ± 1.7 years) participated. Beighton’s score of ≥4 of 9 tests was used as criteria to diagnose GJH. Cervical JPEs were estimated in degrees using a cervical range of motion device, and muscle endurance (flexor and extensor) were estimated in seconds using a stopwatch. Results GJH participants with NSNP showed significantly larger cervical JPEs (p < 0.001) and decreased muscle endurance holding times (p < 0.001) compared to asymptomatic participants. Beighton hypermobility scores showed a significant moderate positive correlation with cervical JPEs (flexion: r = 0.43, p = 0.013), left rotation: r = 0.47, p = 0.005, right rotation: r = 0.57, p = 0.001) in NSNP individuals. Also, Beighton hypermobility scores showed a moderate negative correlation with muscle endurance in NSNP (flexor muscles: r = −0.40, p = 0.020, extensor muscles: r = −0.41, p = 0.020, and asymptomatic individuals (flexor muscles: −0.34, p = 0.045, extensor muscles: r = −0.45, p = 0.007). Conclusion GJH individuals with NSNP showed increased cervical JPEs and reduced muscle endurance compared to asymptomatic. Individuals with GJH with higher Beighton scores demonstrated increased cervical JPEs and reduced neck muscle endurance holding ability. In clinical practice, therapists should be aware of these findings, incorporate proprioceptive and muscle endurance assessments, and formulate rehabilitation strategies for NSNP individuals with GJM.

Background: Temporomandibular disorders (TMDs) and cervical spine problems are a growing public health issue, as they increase the risk of disability in people with hypermobility joint syndrome (HJS)., Objectives: The present study aimed to assess the prevalence of TMD symptoms, and cervical spine and TMJ disability in HJS patients., Material and Methods: A survey was conducted among physical therapy students (mean age: 21 years). The study comprised 2 stages. The 1st one was HJS assessment (the Beighton scale and the Brighton criteria). Based on the assessment, 56 HJS subjects were enrolled for the study. The control group (CG) consisted of 60 HJS-free subjects, according to the aforementioned criteria. The 2nd stage of the study involved conducting a self-administered questionnaire on the prevalence of TMD symptoms. Both the TMD disability questionnaire (TMD-Q) and the neck disability index (NDI) scores were recorded. Pain intensity was assessed using the numeric rating scale (NRS)., Results: The HJS group showed higher NRS scores (p < 0.001). Headache, neck and shoulder girdle pain, and temporomandibular joint (TMJ) pain were found to be more severe in almost each patient from the HJS group as compared to CG. Those individuals had a greater degree of disability on the TMD-Q and the NDI scales (p < 0.001). The HJS group showed significant positive correlations between the TMD-Q and NDI scores (p = 0.0035), and between the TMD-Q and TMJ symptom questionnaire scores (p = 0.0047). A significant positive correlation between the NDI and TMJ symptom questionnaire scores was found both in the HJS group (p < 0.001) and CG (p < 0.001)., Conclusions: The HJS bearers tended to obtain higher TMJ and cervical spine disability scores, at the same time reporting increased headache, neck and shoulder girdle pain, and TMJ pain intensity. Therefore TMJs should be carefully examined for possible signs of dysfunction in HJS subjects prior to dental or prosthetic treatment. According to our data, TMJ and cervical spine disability assessment should be included as a routine practice in the case of HJS patients, who should remain under the long-term care of a multidisciplinary team of doctors and therapists.

Abstract Objective Proprioception, the perception of limb movements and spatial orientation derived from body stimuli, plays a critical role in maintaining joint stability. This study aimed to investigate the effect of combined exercise therapy (closed kinetic chain exercises and proprioception exercises) on knee proprioception, pain intensity and quality of life in patients with hypermobility syndrome. Design Single-blind randomized clinical trial. Setting Shiraz School of Rehabilitation Sciences. Participants Twenty four patients with hypermobility syndrome. Interventions The patients were assigned to the control (no intervention) or intervention group (exercise therapy) by random allocation. Measurements Knee proprioception, pain intensity and quality of life were evaluated before and immediately after the intervention. Exercise sessions were held 3 days a week for 4 weeks. Results The results showed that knee proprioception improved significantly in the intervention group compared to the control group. Quality of life increased, and knee pain intensity decreased significantly in the intervention group compared to the control group. Conclusion Combined exercise therapy can reduce pain intensity and increase knee proprioception and quality of life in patients with hypermobility syndrome. [ABSTRACT FROM AUTHOR]

Hip arthroscopy is widely utilized to treat femoroacetabular impingement syndrome (FAIS). In order to evaluate the postoperative clinical and functional outcomes at 2-year follow up in patients with and without benign joint hypermobility syndrome following hip arthroscopy with capsular plication for FAIS, consecutive female patients with generalized ligamentous laxity undergoing primary hip arthroscopy with complete T-capsulotomy closure via plication for FAIS were prospectively identified. Patients were matched in a 4:1 ratio based on Beighton-Horan joint mobility index (BHJMI) then classified into no generalized joint laxity (NGJL, Score<4) or generalized joint laxity cohort (GJL, Score=4). Patient and surgical-related factors were analyzed using univariate and paired analysis with statistical significance set at a = 0.05. A total of 125 female patients were included in the study: 25 generalized joint laxity (GJL) patients and 100 matched to age, sex and BMI (NGJL cohort). The results demonstrated that there were no significant differences between demographics, preoperative range of motion, or radiographic analysis on univariate analysis. There was no statistical difference in postoperative range of motion between groups, though both groups demonstrated significant increases in postoperative flexion and postoperative internal rotation following hip arthroscopy. Paired analysis demonstrated no significant difference in HOS-SS, HOS-ADL, mHHS or VAS-pain, while GJL patients reported significantly greater patient satisfaction score at 2-years follow-up (p=0.007). In summary, hip arthroscopy with capsular plication is a highly effective treatment for FAIS in patients with and without generalized joint laxity. In our analysis, patients with and without generalized joint laxity demonstrated statistically similar and significant improvement in outcomes. [ABSTRACT FROM AUTHOR]

The study aimed to evaluate the quality of life for adolescent clients with hypermobility syndrome, compare their quality of life between them and determine the relationship between quality of life of these clients and their socio-demographic characteristics of age, gender, marital status and socioeconomic. A cross-sectional design was employed through the present study in order to achieve the objectives of the study for the period from 1st April to 18th November, 2018. A purposive sample of (74) adolescent clients was selected; (40) male and (36) female diagnosed with hypermobility syndrome at orthopedic private clinics in Baghdad City. Validity of the instrument is determined through a panel of (15) experts in different fields of specialty. Data analysis conducted by using descriptive statistics and inferential statistics methods. The Summary statistics of the study sample’s demographic characteristics shows that the sample distributed as early adolescents (32.9%), middle adolescents (34.2%) and late adolescents (32.9%), most of them are males (52.6%), and low socioeconomic status (40%) and the majority of them are singles (93.4%) The overall evaluation for the quality of life for clients with HMS reported that the vast majority of the clients have experienced fair level of QOL. [ABSTRACT FROM AUTHOR]

Connective tissue dysplasia (CTD) represents special ontogenetic abnormality which is a complex problem of contemporary medicine. The principles of differential diagnosis of various forms of CTD are considered. A clinical estimation and therapy approaches are discussed with focus on hypermobility syndrome as one of undifferentiated form of CTD.

Background: The purpose of the present study was to examine the reliability of scapular kinematic measurements using motion analysis system in subjects with and without General Hypermobility Syndrome. Methods: A methodological study was designed to assess the reliability of scapular movement measurement in two groups of females with and without General Hypermobility Syndrome. Upward rotation, superior- inferior translation, medial-lateral translation, posterior tilt and medial rotation were measured during arm elevation in both frontal and sagittal planes using a motion analysis system. Intraclass Correlation Coefficient (ICC) and Standard Error Measurement (SEM) were used to assess intra-rater within-day reliability of the scapular kinematics measurements in both groups. Results: The ICC values ranged from 0.72 to 0.98 and 0.69 to 0.98 for GHS and healthy subjects, respectively. In addition, the results showed that SEM for scapular rotation and translation are always lower than 1.72º and 1.65 cm, respectively. Conclusion: Motion analysis system could be used as a reliable method to measure the scapular kinematics in subjects with and without General Hypermobility Syndrome.

The objective of this study was to explore the factors contributing to quality of life in pediatric patients with non‐vascular Ehlers–Danlos syndromes (EDS). Data were analyzed on 41 children with a diagnosis of non‐vascular EDS from the de‐identified data available from the National Institute on Aging (NIA) study of heritable disorders of connective tissue. Children under age 19 years were seen as part of a long‐term evaluation project from 2003 to 2013 on a larger natural history of patients with heritable disorders of connective tissue. Data collected included medical history, physical examination findings, diagnostic study results, and responses on validated questionnaires. We reviewed a sub‐cohort of children with a diagnosis of non‐vascular EDS and explored pain severity and interference via the Brief Pain Inventory, and sleep quality via the Pittsburgh Sleep Quality Index. Pain severity had a strong correlation with pain interference, and both were similar to other disorders that include chronic pain reported in the literature. Sleep quality did not correlate with pain severity or interference, but all patients had poor sleep quality in comparison to historical controls. We conclude that pain and sleep are significant issues in the pediatric non‐vascular EDS population, and future research may be directed toward these issues. [ABSTRACT FROM AUTHOR]

Aim: To assess the prevalence, severity and impact of fatigue on individuals with joint hypermobility syndrome (JHS)/Ehlers-Danlos syndrome - hypermobility type (EDS-HT) and establish potential determinants of fatigue severity in this population. Methods: Questionnaires on symptoms and signs related to fatigue, quality of life, mental health, physical activity participation and sleep quality were completed by people with JHS/EDS-HT recruited through two social media sites. Multiple regression analysis was performed to identify predictors of fatigue in this population. Results: Significant fatigue was reported by 79.5% of the 117 participants. Multiple regression analysis identified five predictors of fatigue severity, four being potentially modifiable, accounting for 52.3% of the variance in reported fatigue scores. Predictors of fatigue severity were: the self-perceived extent of joint hypermobility, orthostatic dizziness related to heat and exercise, levels of participation in personal relationships and community, current levels of physical activity and dissatisfaction with the diagnostic process and management options provided for their condition. Conclusion: Fatigue is a significant symptom associated with JHS/EDS-HT. Assessment of individuals with this condition should include measures of fatigue severity to enable targeted management of potentially modifiable factors associated with fatigue severity. Implications for rehabilitation: Fatigue is a significant symptom reported by individuals affected by joint hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type. Potentially modifiable features that contribute to fatigue severity in this population have been identified. Targeted management of these features may decrease the severity and impact of fatigue in joint hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type. [ABSTRACT FROM AUTHOR]

Objectives. The objective of the manuscript was to describe the natural history of complaints and disability in children diagnosed with joint hypermobility syndrome (JHS)/Ehlers-Danlos-hypermobility type (EDS-HT) and to identify the constructs that underlie functional decline. Methods. One hundred and one JHS/EDS-HT children were observed over 3 years and assessed at three time points on the following: functional impairments, quality of life, connective tissue laxity, muscle function, postural control and musculoskeletal and multi-systemic complaints. Cluster analysis was performed to identify subgroups in severity. Clinical profiles were determined for these subgroups, and differences were assessed by multivariate analysis of covariance. Mixed linear regression models were used to determine the subsequent trajectories. Finally, an exploratory factor analysis was used to uncover the underlying constructs of functional impairment. Results. Three clusters of children were identified in terms of functional impairment: mild, moderately and severely affected. Functional impairment at baseline was predictive of worsening trajectories in terms of reduced walking distance and decreased quality of life (P40.05) over 3 years. Multiple interactions between the secondary outcomes were observed, with four underlying constructs identified. All four constructs (multi-systemic effects, pain, fatigue and loss of postural control) contributed significantly to disability (P≤0.046). Conclusion. Children diagnosed with JHS/EDS-HT who have a high incidence of multi-systemic com- plaints (particularly, orthostatic intolerance, urinary incontinence and diarrhoea) and poor postural control in addition to high levels of pain and fatigue at baseline are most likely to have a deteriorating trajectory of functional impairment and, accordingly, warrant clinical prioritization. [ABSTRACT FROM AUTHOR]

Ehlers–Danlos syndrome (EDS)—hypermobility type (HT) is considered to be the most common subtype of EDS and the least severe one; EDS-HT is considered to be identical to the joint hypermobility syndrome and manifests with musculoskeletal complaints, joint instability, and soft tissue overuse injury. Musculoskeletal complaints manifest with joint pain of non-inflammatory origin and/or spinal pain. Joint instability leads to dislocation or subluxation and involves peripheral joints as well as central joints, including the temporomandibular joints, sacroiliac joints, and hip joints. Soft tissue overuse injury may lead to tendonitis and bursitis without joint inflammation in most cases. Ehlers–Danlos syndrome-HT carries a high potential for disability due to recurrent dislocations and subluxations and chronic pain. Throughout the years, extra-articular manifestations have been described, including cardiovascular, autonomic nervous system, gastrointestinal, hematologic, ocular, gynecologic, neurologic, and psychiatric manifestations, emphasizing the multisystemic nature of EDS-HT. Unfortunately, EDS-HT is under-recognized and inadequately managed, leading to neglect of these patients, which may lead to severe disability that almost certainly could have been avoided. In this review article we will describe the known manifestations of the extra-articular systems.

The paper describes research and development of mathematical based software diagnostic service and applied interfaces for it, which together presents medical decision support information system. First implementation in diagnosis of children hypermobility syndrome proposed. This work was carried out by IT-park of PetrSU in the collaboration with Department of Pediatrics. The diagnostic service uses innovative mathematical method named diagnostic iteration model. This model is abstract and can be applied in diagnosis of large number of diseases, diacrisis of which are not formalized and are held on the grounds of indirect signs and symptoms.

This study aimed to detect the clinical hypermobility syndrome in a sample of (150) students from Sport Education college, third academic year, University of Mosul, and to identify the possibility of these students to perform the difficult and unfamiliar movements, as well as, the relationship between these movements and hypermobility syndrome, the study also aimed to identify the percentages of injuries on different body parts. The results showed hypermobility syndrome has appeared (30%) from of the community of research, as the study showed different levels of the acquired hypermobility syndrome , as well as the presence of differences between the various levels in the incidence of injuries in the different parts of the body, and differences were between the number of the parts of the body and arranged according to the most number of injuries were recorded (skin, joints, then the muscles, bones, finally ligaments), the study did not demonstrate significance relationship of acquired hypermobility syndrome with the sample of the performing difficult and unfamiliar movements and had answered the research sample of the questionnaire through the mouthpiece of it. The study was recommended the need for a strength development programs directed towards the working muscles on the joints of the hypermobility syndrome for the persons with this syndrome. The performance of aerobic exercise to increase the level of fitness, body weight and control and maintain the ideal degree of muscles laxity and taking advice of doctors specialized in the joints, Orthopedics and physical therapy in the event of any injury, it suggested to perform a therapeutic program for the hypermobility syndrome until the end, also use braces, pillars and support of the joints. Finally, the study recommended opening new specializations for treating the athletics for each the part of body and injury, to develop the medical and physical treat mentin Iraq.

The paper provides a clinical assessment and approaches to therapy for hypermobility syndrome, one of the undifferentiated forms of connective tissue dysplasia.

Hypermobility involves excessive flexibility and systemic manifestations of connective tissue fragility. We propose a folate-dependent hypermobility syndrome model based on clinical observations, and through a review of existing literature, we raise the possibility that hypermobility presentation may be dependent on folate status. In our model, decreased methylenetetrahydrofolate reductase (MTHFR) activity disrupts the regulation of the ECM-specific proteinase matrix metalloproteinase 2 (MMP-2), leading to high levels of MMP-2 and elevated MMP-2-mediated cleavage of the proteoglycan decorin. Cleavage of decorin leads ultimately to extracellular matrix (ECM) disorganization and increased fibrosis. This review aims to describe relationships between folate metabolism and key proteins in the ECM that can further explain the signs and symptoms associated with hypermobility, along with possible treatment with 5-methyltetrahydrofolate supplementation., (© 2023 The Authors.)

Ehlers-Danlos syndrome (EDS)--hypermobility type (HT) is considered to be the most common subtype of EDS and the least severe one; EDS-HT is considered to be identical to the joint hypermobility syndrome and manifests with musculoskeletal complaints, joint instability, and soft tissue overuse injury. Musculoskeletal complaints manifest with joint pain of non-inflammatory origin and/or spinal pain. Joint instability leads to dislocation or subluxation and involves peripheral joints as well as central joints, including the temporomandibular joints, sacroiliac joints, and hip joints. Soft tissue overuse injury may lead to tendonitis and bursitis without joint inflammation in most cases. Ehlers-Danlos syndrome-HT carries a high potential for disability due to recurrent dislocations and subluxations and chronic pain. Throughout the years, extra-articular manifestations have been described, including cardiovascular, autonomic nervous system, gastrointestinal, hematologic, ocular, gynecologic, neurologic, and psychiatric manifestations, emphasizing the multisystemic nature of EDS-HT. Unfortunately, EDS-HT is underrecognized and inadequately managed, leading to neglect of these patients, which may lead to severe disability that almost certainly could have been avoided. In this review article we will describe the known manifestations of the extra-articular systems. [ABSTRACT FROM AUTHOR]

Background Patients with celiac disease (CD) often have articular complaints, and small prior studies suggest an association with Ehlers-Danlos syndrome (EDS)/joint hypermobility syndrome (JHS). Aims This study examines the risks of EDS/JHS in patients with CD. Methods This cohort study compared all individuals in Sweden diagnosed with CD based on small intestinal biopsy between 1969–2008 ( n = 28,631) to 139,832 matched reference individuals, and to a second reference group undergoing biopsy without having CD ( n = 16,104). Rates of EDS/JHS were determined based on diagnostic codes in the Swedish Patient Register. Hazard ratios (HRs) for EDS/JHS were estimated through Cox regression. Results There are 45 and 148 cases of EDS/JHS in patients with CD and reference individuals, respectively. This corresponds to a 49% increased risk of EDS/JHS in CD (95%CI = 1.07–2.07). The HR for EDS was 2.43 (95%CI = 1.20–4.91) and for JHS 1.34 (95%CI = 0.93–1.95). Compared to reference individuals undergoing intestinal biopsy, CD was not a risk factor for EDS/JHS. A stronger association was seen in patients initially diagnosed with EDS/JHS and subsequently diagnosed with CD (odds ratio = 2.29; 95%CI = 1.21–4.34). Conclusions Individuals with CD have higher risk of EDS/JHS than the general population, which may be due to surveillance bias or factors intrinsic to celiac development. [ABSTRACT FROM AUTHOR]

Background: To assess the risk of psychiatric disorders in Ehlers-Danlos syndrome (EDS) and hypermobility syndrome. Methods: Nationwide population-based matched cohort study. EDS, hypermobility syndrome and psychiatric disorders were identified through Swedish national registries. Individuals with EDS (n = 1,771) were matched with comparison individuals (n = 17,710). Further, siblings to individuals with EDS who did not have an EDS diagnosis themselves were compared with matched comparison siblings. Using conditional logistic regression, risk of autism spectrum disorder (ASD), bipolar disorder, attention deficit hyperactivity disorder (ADHD), depression, attempted suicide, suicide and schizophrenia were estimated. The same analyses were conducted in individuals with hypermobility syndrome (n = 10,019) and their siblings. Results: EDS was associated with ASD: risk ratio (RR) 7.4, 95 % confidence interval (95 % CI) 5.2-10.7; bipolar disorder: RR 2.7, CI 1.5-4.7; ADHD: RR 5.6, CI 4.2-7.4; depression: RR 3.4, 95 % CI 2.9-4.1; and attempted suicide: RR 2.1, 95 % CI 1. 7-2.7, but not with suicide or schizophrenia. EDS siblings were at increased risk of ADHD: RR 2.1, 95 % CI 1.4-3.3; depression: RR 1.5, 95 % CI 1.1-1.8; and suicide attempt: RR 1.8, 95 % CI 1.4-2.3. Similar results were observed for individuals with hypermobility syndrome and their siblings. Conclusions: Individuals with EDS and hypermobility syndrome are at increased risks of being diagnosed with psychiatric disorders. These risk increases may have a genetic and/or early environmental background as suggested by evidence showing that siblings to patients have elevated risks of certain psychiatric disorders. [ABSTRACT FROM AUTHOR]