Joint Hypermobility syndrome/Ehlers-Danlos Syndrome Hypermobility Type Research Articles

Flexible bodies-Restricted lives: A qualitative exploratory study of embodiment in living with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

The aim of this study was to explore embodiment as a meaning-making experience in the daily life of Norwegian adults living with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type (JHS/EDS-HT). The work of Drew Leder and his distinction between bodily dis- and dys-appearance contributes to the description and analysis of individuals' bodily experiences of living with this chronic illness. An explorative and qualitative design was applied to in-depth interviews with seven participants. The theoretical framework was phenomenological, and the method of analysis was thematic, involving descriptive and interpretative approaches. Participants' bodily experiences were closely connected to a timeline viewing their illness in the past, the present and from future perspectives. The following central themes emerged from the data: (a) visible to invisible signs of a former body; (b) standing up and falling down of a present body; and (b) future thoughts of an inner and outer body. The study found that living with JHS/EDS-HT revealed complex experiences of having flexible bodies and restricted lives. Our findings also showed a meaning-making process of embodied experiences that evolved over time, as well as a sliding transition from social to personal dys-appearance. In the course of time, a bodily disruptions in social interactions comes to the fore, with invisible symptoms such as pain and fatigue. Individual bodily suffering determines the existence of hope or hopelessness regarding recovery from this condition.

The prevalence of generalized and syndromic hypermobility in elite Australian dancers

ObjectivesTo determine the prevalence of Generalized Joint Hypermobility (GJH) and Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome–Hypermobility Type (JHS/EDS-HT) among dancers using established validated measures. DesignObservational Cohort Study. SettingLaboratory. Participants85 dancers from two dance institutions. Main Outcome MeasuresGJH was determined using the Beighton score (cut-point ≥5/9) and the Lower Limb Assessment Scale (LLAS) (cut-point ≥7/12). Presence of JHS/EDS-HT was assessed using the Brighton and Villefranche criteria. Paired sample t-test was performed to compare LLAS side-to-side scores, and percentage disagreements calculated to determine differences between the two GJH and the two JHS/EDS-HT measures. Results72% of dancers met the Beighton cut-point for GJH, while 38% and 42% met the LLAS cut-point on the left and right respectively. The proportion of dancers identified with GJH was different when assessed using the Beighton compared to the left and right LLAS (both p < 0.001), a disagreement of 48% and 46% respectively, with Beighton classifying more participants as having GJH. The Villefranche identified more dancers with JHS/EDS-HT than the Brighton (84% vs 31%, p < 0.001), with 54% disagreement. ConclusionsHigh prevalence of generalized and syndromic hypermobility was found regardless of the criteria used. A higher Beighton cut-point, e.g. ≥6/9, to identify true GJH amongst dancers maybe warranted.

Physical and Psychosocial Characteristics of Current Child Dancers and Nondancers With Systemic Joint Hypermobility: A Descriptive Analysis.

Study Design Cross-sectional study. Background The effect of current participation in dance training on joint pain and instability, fatigue, and quality of life is unknown. Objectives To examine differences in joint pain, instability, gross motor skills, nonmusculoskeletal systemic manifestations, health-related quality of life (HRQoL), and fatigue between children with joint hypermobility syndrome/Ehlers-Danlos syndrome-hypermobility type (JHS/EDS-HT) who currently undertake formal dance training and those who do not. Methods Children with JHS/EDS-HT and 1 parent completed reports providing data on demographic variables, symptoms, organized activity participation, HRQoL, and fatigue. Physical and functional measures included extent of hypermobility, aerobic fitness, balance, and muscle endurance. Results Of the 102 participating children, 22 currently undertook dance classes, averaging 3.3 h/wk. While the dancers reported a number of painful joints similar to that reported by nondancers (mean ± SD, 5.5 ± 3.7 versus 6.4 ± 3.9 joints, respectively; P = .36), they reported significantly lower pain levels on a 0-to-10 scale (3.8 ± 3.3 versus 5.6 ± 3.4, P = .04) and found pain to be less problematic, affecting less of their body. They reported fewer unstable joints (1.0 ± 1.0 versus 2.0 ± 1.8 joints, P = .001), despite being more hypermobile (Beighton score, 7.3 ± 1.4 versus 6.6 ± 1.6 on a 9-point scale, P = .047; Lower Limb Assessment Score, 9.2 ± 2.0 versus 8.1 ± 1.9 on a 12-point scale, P = .02). The dancers had significantly better HRQoL in the subdomain of school functioning (P = .004) and reported less fatigue (P = .024). Conclusion Children with JHS/EDS-HT who are currently undertaking formal dance training have fewer joint pain and instability symptoms, less fatigue, and better HRQoL; however, the cross-sectional nature of the study means that causation cannot be determined. Level of Evidence Therapy, level 2b. J Orthop Sports Phys Ther 2017;47(10):782-791. Epub 4 Sep 2017. doi:10.2519/jospt.2017.7331.

COL6A5 variants in familial neuropathic chronic itch.

Itch is thought to represent the peculiar response to stimuli conveyed by somatosensory pathways shared with pain through the activation of specific neurons and receptors. It can occur in association with dermatological, systemic and neurological diseases, or be the side effect of certain drugs. However, some patients suffer from chronic idiopathic itch that is frequently ascribed to psychological distress and for which no biomarker is available to date. We investigated three multigenerational families, one of which diagnosed with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT), characterized by idiopathic chronic itch with predominantly proximal distribution. Skin biopsy was performed in all eight affected members and revealed in six of them reduced intraepidermal nerve fibre density consistent with small fibre neuropathy. Whole exome sequencing identified two COL6A5 rare variants co-segregating with chronic itch in eight affected members and absent in non-affected members, and in one unrelated sporadic patient with type 1 painless diabetic neuropathy and chronic itch. Two families and the diabetic patient carried the nonsense c.6814G>T (p.Glu2272*) variant and another family carried the missense c.6486G>C (p.Arg2162Ser) variant. Both variants were predicted as likely pathogenic by in silico analyses. The two variants were rare (minor allele frequency < 0.1%) in 6271 healthy controls and absent in 77 small fibre neuropathy and 167 JHS/EDS-HT patients without itch. Null-allele test on cDNA from patients' fibroblasts of both families carrying the nonsense variant demonstrated functional haploinsufficiency due to activation of nonsense mediated RNA decay. Immunofluorescence microscopy and western blotting revealed marked disorganization and reduced COL6A5 synthesis, respectively. Indirect immunofluorescence showed reduced COL6A5 expression in the skin of patients carrying the nonsense variant. Treatment with gabapentinoids provided satisfactory itch relief in the patients carrying the mutations. Our findings first revealed an association between COL6A5 gene and familiar chronic itch, suggesting a new contributor to the pathogenesis of neuropathic itch and identifying a new candidate therapeutic target.

39. Central sensitization as the mechanism underlying pain in joint hypermobility syndrome/Ehlers–Danlos syndrome, hypermobility type

Patients with joint hypermobility syndrome/Ehlers–Danlos syndrome, hypermobility type (JHS/EDS-HT) commonly suffer from pain. How this hereditary connective tissue disorder causes pain remains unclear although previous studies suggested it shares similar mechanisms with neuropathic pain and fibromyalgia. In this prospective study seeking information on the mechanisms underlying pain in patients with JHS/EDS-HT, we enrolled 27 consecutive patients with this connective tissue disorder. Patients underwent a detailed clinical examination, including the neuropathic pain questionnaire DN4 and the fibromyalgia rapid screening tool. As quantitative sensory testing methods, we included thermal-pain perceptive thresholds and the wind-up ratio and recorded a standard nerve conduction study to assess non-nociceptive fibres and laser-evoked potentials, assessing nociceptive fibres. Clinical examination and diagnostic tests disclosed no somatosensory nervous system damage. Conversely, most patients suffered from widespread pain, the fibromyalgia rapid screening tool elicited positive findings, and quantitative sensory testing showed lowered cold and heat pain thresholds and an increased wind-up ratio. While the lack of somatosensory nervous system damage is incompatible with neuropathic pain as the mechanism underlying pain in JHS/EDS-HT, the lowered cold and heat pain thresholds and increased wind-up ratio imply that pain in JHS/EDS-HT might arise through central sensitization. Hence, this connective tissue disorder and fibromyalgia share similar pain mechanisms. WHAT DOES THIS STUDY ADD?: In patients with JHS/EDS-HT, the persistent nociceptive input due to joint abnormalities probably triggers central sensitization in the dorsal horn neurons and causes widespread pain.

Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type

Joint hypermobility syndrome/Ehlers–Danlos syndrome hypermobility type (JHS/EDS-HT), is likely the most common systemic heritable connective tissue disorder, and is mostly recognized by generalized joint hypermobility, joint instability complications, minor skin changes and a wide range of satellite features. JHS/EDS-HT is considered an autosomal dominant trait but is still without a defined molecular basis. The absence of (a) causative gene(s) for JHS/EDS-HT is likely attributable to marked genetic heterogeneity and/or interaction of multiple loci. In order to help in deciphering such a complex molecular background, we carried out a comprehensive immunofluorescence analysis and gene expression profiling in cultured skin fibroblasts from five women affected with JHS/EDS-HT. Protein study revealed disarray of several matrix structural components such as fibrillins, tenascins, elastin, collagens, fibronectin, and their integrin receptors. Transcriptome analysis indicated perturbation of different signaling cascades that are required for homeostatic regulation either during development or in adult tissues as well as altered expression of several genes involved in maintenance of extracellular matrix architecture and homeostasis (e.g., SPON2, TGM2, MMP16, GPC4, SULF1), cell-cell adhesion (e.g., CDH2, CHD10, PCDH9, CLDN11, FLG, DSP), immune/inflammatory/pain responses (e.g., CFD, AQP9, COLEC12, KCNQ5, PRLR), and essential for redox balance (e.g., ADH1C, AKR1C2, AKR1C3, MAOB, GSTM5). Our findings provide a picture of the gene expression profile and dysregulated pathways in JHS/EDS-HT skin fibroblasts that correlate well with the systemic phenotype of the patients.

Central sensitization as the mechanism underlying pain in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

Patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type (JHS/EDS-HT) commonly suffer from pain. How this hereditary connective tissue disorder causes pain remains unclear although previous studies suggested it shares similar mechanisms with neuropathic pain and fibromyalgia. In this prospective study seeking information on the mechanisms underlying pain in patients with JHS/EDS-HT, we enrolled 27 consecutive patients with this connective tissue disorder. Patients underwent a detailed clinical examination, including the neuropathic pain questionnaire DN4 and the fibromyalgia rapid screening tool. As quantitative sensory testing methods, we included thermal-pain perceptive thresholds and the wind-up ratio and recorded a standard nerve conduction study to assess non-nociceptive fibres and laser-evoked potentials, assessing nociceptive fibres. Clinical examination and diagnostic tests disclosed no somatosensory nervous system damage. Conversely, most patients suffered from widespread pain, the fibromyalgia rapid screening tool elicited positive findings, and quantitative sensory testing showed lowered cold and heat pain thresholds and an increased wind-up ratio. While the lack of somatosensory nervous system damage is incompatible with neuropathic pain as the mechanism underlying pain in JHS/EDS-HT, the lowered cold and heat pain thresholds and increased wind-up ratio imply that pain in JHS/EDS-HT might arise through central sensitization. Hence, this connective tissue disorder and fibromyalgia share similar pain mechanisms. WHAT DOES THIS STUDY ADD?: In patients with JHS/EDS-HT, the persistent nociceptive input due to joint abnormalities probably triggers central sensitization in the dorsal horn neurons and causes widespread pain.

Shoulder function, pain and health related quality of life in adults with joint hypermobility syndrome/Ehlers–Danlos syndrome-hypermobility type

Purpose To investigate shoulder function, pain and Health-Related Quality of life (HRQoL) among adults with joint hypermobility syndrome/Ehlers–Danlos syndrome-hypermobility type (JHS/EDS-HT), compared with the general population (controls). Method In a cross-sectional study using postal survey, 110 patients diagnosed with JHS/EDS-HT and 140 gender- and age-matched healthy controls from Statistics Norway participated. Shoulder function, pain and HRQol were registered by Western Ontario Shoulder Instability Index (WOSI), Numerical Rating Scale (NRS), pain drawings, 36-item Short Form (SF-36). Results Eighty-one individuals responded, with response rate 34% (JHS/EDS-HT: 53%, controls: 21%). JHS/EDS-HT had lower shoulder function (WOSI total: 49.9 versus 83.3; p < 0.001), lower HRQol on SF-36 Physical Component Scale (PCS: 28.1 versus 49.9; p < 0.001), and higher pain intensity (NRS: 6.4 versus 2.7; p < 0.001) than controls. Neck and shoulder joints were rated as primary painful areas in both groups, with significantly higher frequency in JHS/EDS-HT (neck: 90% versus 27%; shoulder: 80% versus 37%). Further, JHS/EDS-HT most often reported generalized pain (96%). Conclusions Adults with JHS/EDS-HT have impaired shoulder function, increased pain intensity, as well as reduced physical HRQoL compared with controls. Although neck and shoulder were most frequently rated as painful, significantly more JHS/EDS-HT also reported generalized pain compared to controls.Implications for RehabilitationAdults with JHS/EDS-HT have impaired shoulder function, and most often painful areas in the neck and shoulder joints, which need to be targeted in the treatment strategy.Compared with the general population adults with JHS/EDS-HT have reduced physical HRQoL, supporting a physical approach for this group.Adults with JHS/EDS-HT may present with both specific painful joints and generalized pain.

Knowledge, assessment, and management of adults with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type among Flemish physiotherapists.

Physiotherapy plays a fundamental role in managing adults with the joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT). However, it is a challenge for both the patient and the physiotherapist as the condition is poorly understood and treatment for JHS/EDS-HT is currently undefined. Insight into current practice is, therefore, necessary in order to establish baseline knowledge in this area and in the long term to improve the standard of patient care. Therefore, the purpose of this study was to evaluate current physiotherapists' knowledge of JHS/EDS-HT and to gain insight into current physiotherapy practice with emphasis on assessment, management, and treatment efficacy. Three hundred twenty-five Flemish physiotherapists participated in the study by filling out electronically a modified version of the "Hypermobility and Hypermobility Syndrome Questionnaire" (HHQ), which covered theoretical constructs such as general knowledge, assessment, management, and learning in relation to generalized joint hypermobility and JHS/EDS-HT. The results show that physiotherapists report a low level of confidence with regard to assessment and management of JHS/EDS-HT. Knowledge of hypermobility and JHS/EDS-HT is weak, especially regarding the features associated with JHS/EDS-HT. Many treatment approaches are used by physiotherapists with the majority showing preference for education, reassurance, muscle strengthening, proprioceptive and core stability training. Almost all approaches were perceived as being clinically effective by the physiotherapists, highlighting a lack of consensus. In conclusion, this study in Flemish physiotherapists confirms that JHS/EDS-HT is under-recognized, not well known and deemed difficult to treat. Further education is required and sought by the physiotherapists surveyed, and future research is needed.

Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.

Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT) is an evolving and protean disorder mostly recognized by generalized joint hypermobility and without a defined molecular basis. JHS/EDS-HT also presents with other connective tissue features affecting a variety of structures and organs, such as skin, eye, bone, and internal organs. However, most of these signs are present in variable combinations and severity in many other heritable connective tissue disorders. Accordingly, JHS/EDS-HT is an "exclusion" diagnosis which needs the absence of any consistent feature indicative of other partially overlapping connective tissue disorders. While both Villefranche and Brighton criteria include such an exclusion as a mandatory item, a systematic approach for reaching a stringent clinical diagnosis of JHS/EDS-HT is still lacking. The absence of a consensus on the diagnostic approach to JHS/EDS-HT concerning its clinical boundaries with similar conditions contribute to limit our actual understanding of the pathologic and molecular bases of this disorder. In this review, we revise the differential diagnosis of JHS/EDS-HT with those heritable connective tissue disorders which show a significant overlap with the former and mostly include EDS classic, vascular and kyphoscoliotic types, osteogenesis imperfecta, Marfan syndrome, Loeys-Dietz syndrome, arterial tortuosity syndrome, and lateral meningocele syndrome. A diagnostic flow chart is also offered with the attempt to support the less experienced clinician in stringently recognizing JHS/EDS-HT and stimulate the debate in the scientific community for both management and research purposes.

The role of narrative medicine in the management of joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT) is a hereditary connective tissue disorder affecting every bodily system. It is largely underdiagnosed by many practitioners, with the result of a considerable delay in diagnosis and, consequently, in the onset of adequate management schedule and treatment. Patients may also experience to be misbelieved, erroneously considered affected by a psychiatric or psychosomatic disorders, and rejected by the medical profession, which can lead to feelings of anger and resentment. Patient journeys are often long and complicated, but if doctors allowed the patient time to tell the full story, and were more prepared to think holistically, there may be a far more positive outcome. Here, the patients' perspective is presented with a narrative medicine approach, illustrating the tri-dimensional experience of a JHS/EDS-HT patient, who is also a Bowen Practitioner and a medical writer/educator. Narrative medicine would be invaluable in working with JHS/EDS-HT so that the patient can tell the story, and offer the practitioner a whole picture of her/his suffering and, often, the key for understanding the cause(s). Once this has been achieved, it might be possible to build upon a more positive and therapeutic dialogue which would result in better treatment and more effective management. It is also important for doctors to communicate with JHS/EDS-HT experts who will ultimately improve the patient journey and treatment outcomes of such a complex connective tissue disorder.

Rehabiliation vs Surgery for Recurrent Snapping Hip in A 26-Year-Old Man with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type: A Biomechanical Study

Recurrent snapping hip is a common clinical presentation of localized joint hypermobility and it is presumed to be more common in patients with generalized forms of joint hypermobility, such as joint hypermobility syndrome/Ehlers- Danlos syndrome, hypermobility type (JHS/EDS-HT). This case study aimed was to show the effects of rehabilitation on a 26-year-old man with recurrent snapping hip and JHS/EDS-HT. He previously underwent surgery only to experience complete recurrence after one year. The patient followed a four month treatment program consisting of passive and assisted-active mobilization, joint stabilizing and proprioceptive enhancement exercises, and he was examined and evaluated before and after the program using clinical scales and a three-dimensional (3D) motion analysis system. The treatment led to improved scores on all clinical scales and pain assessment measures. Motion analysis showed more physiological spatio-temporal parameters and biomechanical pattern at the proximal joints during walking following treatment, while the ankle joints appeared more impaired in terms of the physiologic pattern. Our observations demonstrate the beneficial effects of rehabilitation in the mid-term management of snapping hip when it recurs after surgery in JHS/EDS-HT. These findings support the general concept of low efficacy of orthopedic surgery in JHS/EDS-HT and furthermore they highlight the benefits of physical therapy in the management of this syndrome in JHS/EDS-HT patients.

The effects of neuromuscular taping on gait walking strategy in a patient with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type.

In this case study, biomechanical alterations induced by neuromuscular taping (NMT) were quantified, during walking, in a patient with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT). A female JHS/EDS-HT patient underwent NMT applications over the low back spine and bilaterally to the knee. Quantitative gait analyses were collected before the NMT application and at the end of the treatment (2 weeks after the first application of NMT). At the end of treatment following the NMT application, left step length showed improvements in cadence and velocity, the left knee showed a reduction in its flexed position at initial contact, and the right ankle joint improved its position at initial contact and in the swing phase. Improvements were also found in kinetics, in terms of the ankle moment and power. Results show that NMT seems to be a promising low-cost intervention for improving gait strategy in patients with JHS/EDS-HT. Further investigations are needed to assess the effects of this treatment intervention on pathological symptoms.

Foot type analysis based on electronic pedobarography data in individuals with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type during upright standing.

Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT) is a rheumatologic condition characterized by generalized joint hypermobility and musculoskeletal and nonmusculoskeletal findings related to congenital laxity of connective tissue. Because foot pain and other foot problems are reported to make daily life problematic to manage for individuals with JHS/EDS-HT, and thanks to the availability of modern technology, the aim of the present study was to quantitatively characterize foot type in individuals with JHS/EDS-HT during upright standing. Forty feet of 20 women with JHS/EDS-HT (mean ± SD age, 36.03 ± 14.01 years) were assessed clinically and with a pressure-sensitive mat during upright standing. Forty-five percent of feet had a high arch (pes cavus), 27.5% had a normal arch, and 27.5% had a low arch (pes planus or flatfoot). From a clinical perspective, the characterization of foot type in JHS/EDS-HT is important to identify, develop, and enhance the rehabilitative options. An understanding of the relationship between pes cavus and foot pain in these patients could, in fact, improve the clinical management of these patients.

EPA-1328 - Psychiatric comorbidities in the joint hypermobility syndrome/ehlers danlos syndrome hypermobility type

Joint Hypermobility Syndrome/Ehlers Danlos Syndrome Hypermobility Type (JHS/EDS-HT) is a hereditary connective tissue disorder, mainly characterized by joint hypermobility and instability, widespread chronic pain, and other secondary features. To date, psychiatric disorders have been scarcely investigated in the context of JHS/EDS-HT. Previous studies reported a high rate of panic and other anxiety disorders. No data regarding personality disorders are currently available. To determine the prevalence of psychiatric comorbidities among patients with JHS/EDS-HT We conducted a single-centre case-control study, enrolling consecutive JHS/EDS-HT patients and healthy controls. The psychiatric evaluation was based on the Structured Clinical Interview for DSM-IV Axis I and II disorders. Symptom severity was assessed using the Hamilton Anxiety Rating Scale, the Hamilton Depression Rating Scale, and the Brief Psychiatric Rating Scale. The Global Assessment of Functioning Scale was used to assess the overall severity of psychological, social, and occupational functioning. Forty-seven JHS/EDS-HT patients and 45 healthy controls were recruited. Cases had significantly higher mean scores for all the adopted measures, and a 4.3 higher risk of being affected by any psychiatric disorder when compared to controls. In particular, they had a 5.8 higher risk of having a personality disorders, and, specifically, a higher rate of OCPD (10.6%). Conversely, we did not observe a high prevalence of panic disorders, as previously reported. Patients with JHS/EDS-HT show higher rates of mood and personality disorders (OCPD particularly), while we found low rate of anxiety disorders. The psychiatric evaluation of these patients is strongly recommended.

Unexpected association between joint hypermobility syndrome/Ehlers–Danlos syndrome hypermobility type and obsessive–compulsive personality disorder

Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT) is a largely unrecognized, heritable connective tissue disorder, mainly characterized by joint instability complications, widespread musculoskeletal pain, and minor skin features. In a case-control study, 47 consecutive JHS/EDS-HT patients were investigated for the prevalence of psychiatric disorders and compared to 45 healthy controls in a single center. The psychiatric evaluation consisted of structured clinical interview for DSM-IV criteria by using the SCID-I and the SCID-II. Symptom severity was assessed using the Hamilton Anxiety Rating Scale (HAM-A), the Hamilton Depression Rating Scale (HAM-D), and the Brief Psychiatric Rating Scale (BPRS). The Global Assessment of Functioning Scale (GAF) was used to assess the overall severity of psychological, social, and occupational functions. JHS/EDS-HT patients had significantly higher mean scores for all questionnaires: HAM-A (6.7 vs. 3.8), HAM-D (6.4 vs. 2.7), GAF (75.0 vs. 86.1), and BPRS (27.5 vs. 25.6). The JHS/EDS-HT group had a 4.3 higher risk of being affected by any psychiatric disorder, and in particular, a 5.8 higher risk of having a personality disorder. In particular, 5 JHS/EDS-HT suffered from obsessive-compulsive personality disorder with an observed prevalence rate of 10.6% (3.6-23.1). Psychiatric assessment of JHS/EDS-HT patients showed an extremely high prevalence of personality disorders (21%), and of Axis-I disorders (38%), mostly depressive. This study did not confirm the previously reported increased rate of panic disorders in JHS/EDS-HT.

Use of the Gait Profile Score for the evaluation of patients with joint hypermobility syndrome/Ehlers–Danlos syndrome hypermobility type

Gait analysis (GA) is widely used for clinical evaluations in various pathological states, both in children and in adults, such as in patients with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT). Otherwise, GA produces a large volume of data and there is the clinical need to provide also a quantitative measure of the patient's overall gait. Starting from this aim some global indexes were proposed by literature as a summary measure of the patient's gait, such as the Gait Profile Score (GPS). While validity of the GPS was demonstrated for the evaluation of the functional limitation of children with Cerebral Palsy, no studies have been conducted in patients JHS/EDS-HT. The aim of our study was therefore to investigate the effectiveness of the GPS in the quantification of functional limitation of patients with JHS/EDS-HT. Twenty-one adult (age: 36.1 ± 12.7 years) individuals with JHS/EDS-HT were evaluated using GA and from GA data the GPS was computed. The results evidenced that the GPS value of patients was 8.9 ± 2.6, statistically different from 4.6 ± 0.9 displayed by the control group. In particular, all values of Gait Variable Scores (GVS) which compose the GPS were higher if compared to controls, with the exception of Pelvic Tilt and Foot Progression. The correlations between GPS/GVS and Lower Extremity Functional Scale (LEFS) showed significant relationship between GPS and the item 11 ("Walking 2 blocks") (ρ=-0.56; p<0.05) and 12 ("Walking a mile") of LEFS (ρ=-0.76; p<0.05). Our results showed that GPS and GVS seem to be appropriate outcome measures for the evaluation of the functional limitation during gait of patients with JHS/EDS-HT.

Relationship between fatigue and gait abnormality in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility type

Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of inherited connective tissue disorders characterised by joint hypermobility, skin hyperextensibility and tissue fragility. It has recently been shown that muscle weakness occurs frequently in EDS, and that fatigue is a common and clinically important symptom. The aim of this study was to investigate the relationship between fatigue severity and the gait pattern using 3D Gait Analysis (GA). Eleven individuals with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility type (JHS/EDS-HT) were investigated using muscle strength measured with standardised questionnaire measuring fatigue (Fatigue Severity Scale, FSS) and quantitative 3D GA. Our data showed that FSS value well correlated with the peak of vertical component of ground reaction force (r=-0.66, p<0.05). The negative correlation gives evidence that the higher the fatigue is the more reduced force is during gait. Our results showed that the ground reaction force has been applied as a functional evaluation score for detecting pathology in gait of JHS/EDS-HT participants and the found correlation between vertical force and fatigue demonstrated that muscle fatigue may be associated with a loss of proprioceptive acuity in lower limb muscles.

Ocular Features in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type: A Clinical and In Vivo Confocal Microscopy Study

To investigate ocular anomalies in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type (JHS/EDS-HT). Prospective, cross-sectional study. Forty-four eyes of 22 consecutive patients with an established diagnosis of JHS/EDS-HT and 44 eyes of 22 age- and gender-matched control subjects. Administration of a standardized questionnaire (Ocular Surface Disease Index) and a complete ophthalmologic examination, including assessment of best-corrected visual acuity, slit-lamp biomicroscopy, intraocular pressure measurement, indirect ophthalmoscopy, tear-film break-up time, Schirmer I testing, axial length and anterior chamber depth measurement, corneal topography, corneal pachymetry, and confocal microscopy. Main outcome measures included comparing ocular anomalies in JHS/EDS-HT and control eyes. JHS/EDS-HT patients reported dry eye symptoms more commonly than controls (P < .0001). Scores of tear-film break-up time and Schirmer I test were significantly lower in JHS/EDS-HT eyes (P < .0001). Minor lens opacities were significantly more common in the JHS/EDS-HT group (13.6%; P < .05). Pathologic myopia with abnormal vitreous was found in 7 JHS/EDS-HT eyes (15.9%) and 0 controls (P = .01). Corneas were significantly steeper and the best-fit sphere index was significantly higher in JHS/EDS-HT group (P < .01). By confocal microscopy, the JHS/EDS-HT group showed lower density of cells in the superficial epithelium (P < .001) and higher density of stromal keratocytes in anterior and posterior stroma (P < .0001). The most consistent association of eye anomalies in the JHS/EDS-HT group included xerophthalmia, steeper corneas, pathologic myopia, and vitreous abnormalities, as well as a higher rate of minor lens opacities. These findings indicate the need for ophthalmologic survey in the assessment and management of patients with JHS/EDS-HT.