Generalized Joint Hypermobility Research Articles

Synthetic suture tape for medial patellofemoral ligament reconstruction is an effective treatment for complex paediatric patellofemoral instability.

To assess the outcomes of medial patellofemoral ligament (MPFL) reconstruction using synthetic suture tape in paediatric patients with patellofemoral instability (PFI). This ambispective comparative study, conducted from 2014 to 2022, included paediatric patients who underwent MPFL reconstruction with synthetic suture tape and had a minimum follow-up of 1 year. Pre- and postoperative clinical and functional outcomes, patient satisfactionand complications were assessed. The study comprised 22 patients (29 knees), with a median age at surgery of 14.4 years (interquartile range [IQR] 10.9-16.7) and a median follow-up of 46.5 months (24.7-66). Notably, 13 knees (44.8%) had open growth plates at the time of surgery. The cohort included patients with Down syndrome (3 patients), Ehlers-Danlos (2), arthrogryposis (1), generalized joint hypermobility (8)and previous unsuccessful PFI surgeries (8). Concomitant procedures were performed on 16 knees. Postoperatively, improvements were observed in all but one patient, who reported residual pain. There were two other complications: one suture-tape rupture and one surgical wound infection. Functional scores significantly improved: Kujala, +14 points (7-29) (p < 0.001); IKDC, +10.5 points (5.2-25.3) (p < 0.001); Tegner, +2 points (0-4) (p < 0.001);Lysholm, +15 points (0-37.5) (p < 0.001). Most patients achieved excellent outcomes by Crosby-Insall criteria (21 patients, 72.4%) and reported high satisfaction (23 patients, 79.3%). MPFL reconstruction using synthetic suture tape is a viable and effective treatment for paediatric patients with PFI, particularly for those with connective tissue disorders, generalized joint hypermobilityor past surgical failures, significantly enhancing clinical and functional outcomes with an acceptable complication rate. Level IV.

Risk factors associated with symptoms of temporomandibular disorders among women with hypermobile Ehlers-Danlos syndrome: Questionnaire-based study in Finland and Sweden.

Generalized joint hypermobility as a characteristic feature of Ehlers-Danlos syndromes (EDS) is among the factors contributing to temporomandibular disorders (TMD). To evaluate the prevalence of TMD symptoms and their risk factors among women born in Sweden or Finland who were 27- to 78-year-olds with diagnosed hypermobile EDS (hEDS). A cohort of women with confirmed hEDS (n = 185) was constructed from the members of the National EDS Associations in both countries. Based on questionnaire data, frequency of independent variables in terms of socio-demographic, general health and oral health-related factors, comorbid symptoms and psychological distress for self-reported TMD symptoms as the dependent variables, were calculated first. Prevalence ratios (PR) and their 95% confidence interval (95% CI) were estimated for the association between independent and dependent variables. Nearly all participants reported TMD symptoms (98%) with TMD pain (95%), TMJ clicking (90%) and jaw fatigue (80%) as the most common symptoms and TMJ crepitation (63%) and luxation (44%) as the least common symptoms. Risk factors for TMD among 27- to 50-year-olds participants were Finland as a country of birth, living alone and self-reported worst pain in the body (not the joints). The respective risk factors among the 51- to 78-year-olds were Finland as a country of birth, family history of EDS, tinnitus and regularly taking contraceptives. Among adult women with confirmed hEDS, socio-demographic and health-related factors and comorbid symptoms were significantly associated with TMD but with differences regarding age group. Therefore, management of TMD requires a multidisciplinary approach among the affected.

P155 Gene expression in hypermobility and the role of inflammation

Abstract Background/Aims Hypermobile conditions, including Ehlers-Danlos syndrome and joint hypermobility syndrome, encompass a broad spectrum of heterogenous clinical entities characterised by excessive range of joint movements and variable extra-articular features. The etiological basis of these conditions is thought to relate to abnormal collagen assembly, which impairs the structural integrity of connective tissue, although precise mechanisms remain both debated and incompletely understood. Despite the established strong heritability of hypermobility, a definitive genetic cause remains unidentifiable in most hypermobile patients, highlighting the need to further characterize the genetic landscape of hypermobile conditions. In this study, we therefore employ transcriptomic analysis as an alternate means of elucidating the genetic basis of hypermobility. Methods We tested for the effects of hypermobility on gene expression, at baseline and following an inflammatory challenge, by re-analysing existing transcriptomic data gathered from healthy subjects and patients with fibromyalgia and chronic fatigue using total RNA sequencing of blood samples (Illumina NextSeq 500). From each participant, two blood samples were taken on separate occasions: one after a saline injection and the other after an inflammatory challenge, the typhoid vaccination, in a cross-over design. Participants were assigned to hypermobile or non-hypermobile conditions in accordance with criterion 1: generalized joint hypermobility of the Diagnostic Criteria for Hypermobile Ehlers-Danlos Syndrome (hEDS) produced by the International Consortium on Ehlers-Danlos Syndromes &amp; Related disorders. Differential gene expression analysis comparing hypermobile and non-hypermobile participants was performed using EdgeR software in R studio. Baseline differences were determined by comparing post-saline samples between groups. Differential responses to the inflammatory challenge were detected by comparison of post-typhoid samples between groups. Gene ontology on differentially expressed genes was performed using DAVID’s Functional Annotation Clustering tool. Results We found 288 differentially expressed genes post-saline (i.e at baseline) and 1113 post-typhoid at p &amp;lt; 0.05 although none passed false discovery rate. At baseline, differentially expressed genes were significantly enriched for nuclear, endoplasmic reticulum, and microtubular genes (enrichment score = 2.96, 2.02, 1.3 respectively); and post-typhoid, for 24 clusters, the three most significant being synaptic, ion transport, and plasma membrane genes (enrichment score = 11.34, 8.71, and 7.3 respectively). Conclusion These data demonstrate distinct patterns of gene expression, both at baseline and during inflammation, which implicate potential biological pathways in the pathophysiology of hypermobility. These results also contribute to a growing understanding of the genetic basis of hypermobility and may inform future higher-powered studies to validate our findings. Disclosure J. Porter: None. M. Amato: None. K. Themelis: None. H. Critchley: None. S. Newbury: None. K. Davies: None. N. Harrison: None. B. Towler: None. J. Eccles: Grants/research support; J.E. has received funding from Versus Arthritis, National Institute for Health Research and the Fibroduck Foundation.

Clinical and Molecular Characterization of a Novel Homozygous Frameshift Variant in AEBP1-Related Classical-like Ehlers Danlos Syndrome Type 2 with Comparison to Previously Reported Rare Cases.

Recently, an autosomal recessive subtype of connective tissue disorder within the spectrum of Ehlers-Danlos syndrome (EDS), named classical-like EDS type 2 (clEDS2), was identified. clEDS2 is associated with biallelic variants in the adipocyte enhancer binding protein 1 (AEBP1) gene, specifically, affecting its aortic carboxypeptidase-like protein (ACLP) isoform. We described the 15th patient (13th family) diagnosed with clEDS2. This patient presented with notable similarities in phenotype to the documented cases, along with additional characteristics such as significant prematurity and short stature. An EDS sequencing panel-based analysis revealed homozygous AEBP1: NM_001129.5:c.2923del, p.Ala975Profs*22 likely pathogenic variants, and maternally inherited heterozygous COL11A1: NM_001854.4:c.1160A>G, p.Lys387Arg variant of uncertain significance in our patient. Upon comprehensive review of all previously reported clEDS2 patients, our patient exhibited the following overlapping phenotypes, including cutaneous features: hyperextensibility, atrophic scars/delayed wound healing (100%), easy bruising (100%), excessive skin (93%); skeletal features: generalized joint hypermobility (93%), pes planus (93%), dislocation/subluxation (93%); and cardiovascular features (86%). Our patient did not display symptoms of the critical complications reported in a few individuals, including superior mesenteric artery aneurysms and ruptures, aortic root aneurysm/dissection, spontaneous pneumothoraxes, and bowel ruptures. Together, this case expands the genetic and clinical phenotypic spectrum of AEBP1-related clEDS2.

Visual evoked potential in generalized joint hypermobility: A case-control study.

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

Impact of a Pilates intervention on physical function in children with generalised joint hypermobility and chronic musculoskeletal pain: A single-case experimental design

AimTo assess the impact of a Physiotherapist-led Pilates Intervention for school aged children with Generalised Joint Hypermobility (GJH) on pain, physical function and Health Related Quality of Life (HRQoL). MethodsThree children aged 8–12 years with GJH participated in an 8 week Physiotherapist-led Pilates Intervention within a single-case experimental design (multiple baseline design). Repeated measures were collected during baseline, intervention, withdrawal and follow-up, for: (i) pain, (ii) physical function as measured by muscle strength, postural control, fatigue and activity levels and (iii) HRQoL. ResultsWithin the intervention phase, two children showed reduced fatigue and one child improved in muscle group strength of hip abduction (gluteus medius) and scapula adduction/rotation (rhomboideus major/minor) and HRQoL. No improvements were seen in pain or postural control. Within the early withdrawal phase all children showed improved strength for at least two muscle groups and one child showed reduced fatigue, pain (worst in last week) and improved postural control (functional reach lateral). ConclusionsPilates may provide an effective intervention for children with GJH to reduce fatigue and improve muscle strength and HRQoL. Limited conclusions can be made regarding pain and postural control. Further research with a longer Pilates duration is needed to confirm the dose and benefits for this population.

Web-based survey investigating cardiovascular complications in hypermobile Ehlers-Danlos syndrome after COVID-19 infection and vaccination.

Hypermobile Ehlers-Danlos syndrome is a heritable connective tissue disorder associated with generalized joint hypermobility but also other multisystem comorbidities, many of which may be exacerbated during a viral illness or after a vaccination. We sought to determine whether individuals with hypermobile Ehlers Danlos syndrome report an increase in adverse events, including cardiovascular events, after COVID-19 illness or vaccination. A cross-sectional web-based survey was made available from November 22, 2021, through March 15, 2022. 368 respondents primarily from the United States self-reported data including diagnosis. We used a Cox proportional hazards model with time varying indicators for COVID-19 illness or vaccination in the previous 30 days. We found a significantly increased rate of new abnormal heart rhythms reported in the 30 days following COVID-19 illness. No additional cardiovascular events were reported after COVID-19 illness. 2.5% of respondents with COVID-19 illness were hospitalized. We did not find a statistically significant increased rate of cardiovascular events in the 30 days following any COVID-19 vaccination dose. Post COVID-19 vaccination, 87.2% of hypermobile Ehlers-Danlos syndrome respondents endorsed an expected adverse event (EAE), and 3.1% reported an emergency department visit/hospitalization, of those who received at least one vaccine dose. Events possibly reflecting exacerbation of orthostasis/dysautonomia were common. Respondents did not report an increased rate of any cardiovascular events in the 30 days following COVID-19 vaccination; however, those with hypermobile Ehlers-Danlos syndrome experienced a high rate of expected adverse events after vaccination consistent with a high baseline prevalence of similar symptoms. No cardiovascular events other than new abnormal heart rhythms were reported at any point after a COVID-19 illness.

Effect of whole-body vibration on postural stability in young adults with generalized joint hypermobility: A comparative study.

Whole-body vibration (WBV) is being used in rehabilitation and sport. Studies confirm its positive impact on muscle strength and power or regulating muscle hypertension. However, there are some uncertainties regarding its influence on postural stability. This issue seems particularly interesting in the case of individuals with generalized joint hypermobility (GJH), for whom proprioceptive training and muscle strengthening exercises are recommended while techniques that decrease muscle tension are not advised. The aim of the study was to evaluate the acute effect of WBV on postural stability in adults with GJH. 60 participants were categorized into the groups: 1) hypermobility with vibration (GJH+WBV), 2) hypermobility without vibration (GJH-WBV), 3) control group with vibration (CTRL+WBV), 4) control group without vibration (CTRL-WBV). The first and the third group completed WBV (frequency: 15Hz and 30Hz, amplitude 3mm, 3 × 3min). The second and fourth groups participated only in measurement sessions. GJH was assessed using the Beighton test. Postural stability was measured as the overall stability index (OSI) on the Biodex Balance System on the stable and unstable platform with open and closed eyes. Measurements were taken before and after WBV for two weeks. At a frequency of 15Hz, a significant time effect was observed for measurements Before and After in CTRL-WBV on the stable platform with open eyes (p= 0.012) and on the unstable platform with closed eyes (p= 0.000) for the GJH+WBV and CTRL+WBV groups. There were no significant interactions (p> 0.05) between factors. At a frequency of 30Hz, there was a significant time effect Before and After (p= 0.047) on the stable platform with open eyes, but no interaction was found between factors (p= 0.835). There is no positive acute effect of WBV on postural stability in adults with and without GJH.

Single-Leg Heel Raise Capacity is Lower, and Perceived Ankle Instability is Greater, in Dancers and Athletes With Posterior Ankle Impingement Syndrome.

To compare clinical assessment findings between elite athletic populations with and without a clinical diagnosis of posterior ankle impingement syndrome (PAIS). Cross-sectional case-control study. Elite ballet and sport. Ten male and female professional ballet dancers and athletes with a clinical diagnosis of PAIS and were matched for age, sex, and activity to 10 professional ballet dancers and athletes without PAIS. Posterior ankle pain on body chart and a positive ankle plantarflexion pain provocation test. Single-leg heel raise (SLHR) endurance test, range of motion testing for weight-bearing ankle dorsiflexion, passive ankle plantarflexion, and first metatarsophalangeal joint dorsiflexion, and Beighton score for generalized joint hypermobility. Participants also completed the Cumberland Ankle Instability Tool (CAIT) questionnaire. The group with PAIS achieved significantly fewer repetitions on SLHR capacity testing (P = 0.02) and were more symptomatic for perceived ankle instability according to CAIT scores (P = 0.004). Single-leg heel raise endurance capacity was lower, and perceived ankle instability was greater in participants with PAIS. The management of this presentation in elite dancers and athletes should include the assessment and management of functional deficits.

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

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

Echocardiographic abnormalities and joint hypermobility in Chinese patients with Osteogenesis imperfecta

BackgroundVery 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.MethodsA 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.ResultsA 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).ConclusionsMild 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.

Assessment of Generalized Joint Hypermobility and Its Association With Osteoarthritis, BMI, and Age: A Study in Southern Lahore.

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. A cross-sectional study recruited 116 diagnosed OA patients through a random convenient sampling method. These patients were assessed for GJHusing 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. 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. 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.

Type 1 kyphoscoliotic Ehlers–Danlos syndrome caused by mutations of the PLOD1 gene: analysis of own observations

Kyphoscoliotic type of Ehlers–Danlo syndrome occurs in the practice of doctors of different specialties. The main manifestations of the disease are congenital muscular hypotonia, progressive kyphoscoliosis, generalized joint hypermobility, dislocation/subluxation of the joints. In recent years, special attention has been paid to the fragility of blood vessels characteristic of patients, which usually has serious consequences. Purpose: the study aims at clarifying the clinical characteristics of type 1 kyphoscoliotic Ehlers–Danlo syndrome based on the analysis of the clinical findings observed in 2 patients with severe vascular disorders. Data from clinical and molecular genetic examination of 2 children (girl and boy) 17 and 13 years old from unrelated families are presented. The diagnosis of type 1 kyphoscoliotic Ehlers–Danlo syndrome was established in accordance with the diagnostic criteria according to the International Classification 2017. Children showed severe vascular disorders in the neonatal period, ruptures of medium-caliber arteries in adolescence. Genomic sequencing in both patients revealed a pathogenic nucleotide variant in the PLOD1 gene — duplication of the 11959421–11968422 chromosome 1 region in the homozygous state. The results of literature analysis and own observations of 2 patients with type 1 kyphoscoliotic Ehlers–Danlo syndrome indicate the severity and rather high incidence of vascular disorders, which should be considered when developing recommendations for the medical management of patients.

Does asymptomatic generalized joint hypermobility influence musculotendinous extensibility and knee joint proprioception?

Does asymptomatic generalized joint hypermobility influence musculotendinous extensibility and knee joint proprioception?

Novel phenotype associated with homozygous likely pathogenic variant in the POP1 gene.

The biallelic variants of the POP1 gene are associated with the anauxetic dysplasia (AAD OMIM 607095), a rare skeletal dysplasia, characterized by prenatal rhizomelic shortening of limbs and generalized joint hypermobility. Affected individuals usually have normal neurodevelopmental milestones. Here we present three cases from the same family with likely pathogenic homozygous POP1 variant and a completely novel phenotype: a girl with global developmental delay and autism, microcephaly, peculiar dysmorphic features and multiple congenital anomalies. Two subsequent pregnancies were terminated due to multiple congenital malformations. Fetal DNA samples revealed the same homozygous variant in the POP1 gene. Expression of the RMRP was reduced in the proband compared with control and slightly reduced in both heterozygous parents, carriers for this variant. To our knowledge, this is the first report of this new phenotype, associated with a novel likely pathogenic variant in POP1. Our findings expand the phenotypic spectrum of POP1-related disorders.

The effect of plyometric training and moderating variables on stretch-shortening cycle function and physical qualities in female post peak height velocity volleyball players.

Purpose: Although several studies investigated the effect of plyometric training on physical performance, there is a lack of clarity regarding the effectiveness of plyometric training or its moderator variables in youth female volleyball players. The primary aim of this study was to explore the effect of horizontal plyometric training on explosive stretch-shortening cycle hops and jumps in the vertical and horizontal directions in female post peak height velocity (PHV) volleyball players. The secondary aim was to assess the influence of participant and training related moderators on horizontal plyometric training in post-PHV volleyball players. Methods: A total of 23 post-PHV volleyball players participated in this 8-week intervention with horizontal plyometric exercises, twice a week. Pre-testing and post-testing included bilateral and unilateral vertical sub-maximal hopping, horizontal jumping and hopping, and a drop jump test. The effectiveness of the intervention was assessed using a paired t-test. The influence of internal moderators such as age, maturity and body mass and external moderators such as training volume were assessed using regression and correlation analysis. Results: An 8-week plyometric training improved sub-maximal hopping at 2.5Hz left by 4.4%, bilateral sub-maximal hopping at 2.0Hz by 9.5% and bilateral sub-maximal hopping at 2.2Hz by 6.8% in post-PHV female volleyball players. Horizontal jumping and hopping, reactive strength index and other sub-maximal hopping conditions did not improve significantly. Body mass had a large moderating effect on vertical unilateral sub-maximal hopping at 2.5Hz right (p = 0.010, η 2 = 0.314), vertical unilateral hopping at 3.0Hz right (p = 0.035, η 2 = 0.170), and vertical unilateral hopping at 3.0Hz left (p = 0.043, η 2 = 0.203). Training volume together with generalized joint hypermobility moderated right leg triple broad hop performance, whereas maturity and age did not moderate any variables. Conclusion: This study determined that 8weeks of horizontal plyometric training can improve unilateral absolute leg stiffness in post-PHV female volleyball players, and this training effect can be moderated by body mass. Furthermore, the training effect on triple hopping performance on the right leg can be moderated by combined training volume with generalized joint hypermobility.

Is joint hypermobility linked to self-reported non-recovery from COVID-19? Case–control evidence from the British COVID Symptom Study Biobank

ObjectivesThis study sought to explore whether generalised joint hypermobility (GJH, a common marker of variant connective tissue) was a risk factor for self-reported non-recovery from COVID-19 infection.DesignProspective observational study.SettingCOVID Symptom...

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

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

"Could a subset of joint mobility tests define generalized joint hypermobility?": A descriptive observational inception study.

Generalized joint hypermobility is an inherited collagen phenotype based on clinical assessments of joint mobility. However, there is no international consensus to define generalized joint hypermobility, both considering which joint mobility tests should be included and limits for joint hypermobility. The primary aim of the study was to identify a subset of joint mobility tests to define generalized joint hypermobility. A further aim was to evaluate standardized limits for the classification of hypermobility in different joint types throughout the body. A total of 255 early pregnant women were included in the study. Joint mobility was measured according to a structured protocol. Correlation and principal component analysis were used to find a subset of joint mobility tests. To classify hypermobility in each joint mobility test, five different standard deviation levels plus 0.84, plus 1.04, plus 1.28, plus 1.64 and plus 2 were used, corresponding to 20%, 15%, 10%, 5% and 2.5% of the normal distribution. No subset of joint mobility test could define generalized joint hypermobility. The higher the standard deviation levels, the higher the limit to classify joint hypermobility and the lower the prevalence. As a result of no subset of joint mobility tests were found to define generalized joint hypermobility, different combinations of major and minor joints in upper and lower limbs and the axial skeleton, were systematically developed. These combinations were evaluated for each standard deviation level, resulting in a prevalence of generalized joint hypermobility between 0% and 12.9% and a clear variation in how the hypermobile joint mobility tests were distributed. It is probably not possible to choose a subset of joint mobility tests to define GJH. In order not to overlook generalized joint hypermobility, a broader assessment of different joint types and sizes of joints appears to be needed. The prevalence of generalized joint hypermobility is dependent on joint hypermobility limit and the chosen combination of joint mobility tests.

Frequency of joint hypermobility using Beighton’s score in patients of fibromyalgia at a tertiary care hospital

Objective: To determine frequency of joint hypermobility in patients of fibromyalgia presenting to our institution. Methodology: This observational cross-sectional analytical study was conducted from June 2021 to May 2022 at Department of Medicine &amp; Allied, Azra Naheed Medical College, Superior University, Lahore, Pakistan. Fibromyalgia was defined according to the 1990 ACR diagnostic Criteria of Fibromyalgia. Localized Joint Hypermobility was defined as &lt;3 score and generalized Joint Hypermobility was defined as &gt;4 score on the Beighton Score Scale. The study included 266 patients with fibromyalgia of both sexes aged between 16 years to 35 years. Joint hypermobility was assessed by using Beighton score. Results: Mean age was 26.5+4.6 years with 178 (66.9%) females. Mean BMI was 23.9+3.9 kg/m2. Mean Beighton score was 1.1+2.4. Generalized Joint Hypermobility was seen in 34 (12.8%) patients, 23 (8.6%) had localized hypermobility whereas 209 (78.6%) had no hypermobile joints. Stratification of outcome was done with regards to age (p=0.683), sex (p=0.238) and BMI (p=0.482). Conclusion: This study showed that generalized joint hypermobility was present approximately in one out of every 10 patients and a quarter of patients had at least one clinically documented hypermobile joint.