Mark C. Scheper

Children with Generalised Joint Hypermobility and Musculoskeletal Complaints: State of the Art on Diagnostics, Clinical Characteristics, and Treatment

Introduction. To provide a state of the art on diagnostics, clinical characteristics, and treatment of paediatric generalised joint hypermobility (GJH) and joint hypermobility syndrome (JHS). Method. A narrative review was performed regarding diagnostics and clinical characteristics. Effectiveness of treatment was evaluated by systematic review. Searches of Medline and Central were performed and included nonsymptomatic and symptomatic forms of GJH (JHS, collagen diseases). Results. In the last decade, scientific research has accumulated on all domains of the ICF. GJH/JHS can be considered as a clinical entity, which can have serious effects during all stages of life. However research regarding the pathological mechanism has resulted in new potential opportunities for treatment. When regarding the effectiveness of current treatments, the search identified 1318 studies, from which three were included (JHS: n = 2, Osteogenesis Imperfecta: n = 1). According to the best evidence synthesis, there was strong evidence that enhancing physical fitness is an effective treatment for children with JHS. However this was based on only two studies. Conclusion. Based on the sparsely available knowledge on intervention studies, future longitudinal studies should focus on the effect of physical activity, fitness, and joint stabilisation. In JHS and chronic pain, the effectiveness of a multidisciplinary approach should be investigated.

Generalized joint hypermobility in professional dancers: a sign of talent or vulnerability?

OBJECTIVE To study the impact of generalized joint hypermobility (GJH) in professional dancers on physical fitness, musculoskeletal complaints and psychological distress. METHODS Thirty-six professional dancers were recruited and compared with control subjects (mean age 20.1, range 17-27). Height, weight, Beighton score, physical fitness (walking distance, muscle strength, estimated VO2max), musculoskeletal complaints (pain, fatigue) and psychological distress (anxiety, depression) were measured. RESULTS Univariate analysis revealed, in between-group analysis, that dancers (with and without GJH) had higher physical fitness [the six-minute walk test (6MWT): ΔD = +8.4%, P = 0.001; VO2max: ΔD = +12.8%, P = 0.01], fatigue (checklist individual strength: ΔD = +80.3%, P < 0.0001) and greater psychological distress (Hospital Anxiety and Depression Scale: ΔD = +115.0%, P < 0.0001). When comparing dancers and control subjects with GJH to those without GJH, lower levels of physical fitness (muscle strength: ΔD = -11.3%, P < 0.0001; 6MWT: ΔD = -9.9%, P < 0.0001), more fatigue (checklist individual strength: ΔD = +84.4%, P < 0.0001) and greater psychological distress (Hospital Anxiety and Depression Scale: ΔD = +79.6%, P < 0.0001) were observed in subjects with GJH. Multivariate analysis showed that dancers have higher levels of physical fitness (6MWT, P = 0.001; VO2max, P = 0.020); however, when taking GJH into account, this advantage disappeared, indicating lower levels of physical fitness in comparison with control subjects (6MWT, P = 0.001; muscle strength, P < 0.0001; VO2max, P = 0.040). Dancers experienced more fatigue (P = 0.001) and psychological distress (P < 0.0001). This was associated with even more fatigue (P = 0.010) and psychological distress (P = 0.040) when GJH was present. CONCLUSION Dancers with GJH seem more vulnerable to musculoskeletal and psychological complaints. In addition, GJH was also associated with lower physical fitness, despite training. Caregivers for professional dancers should monitor closely the physical capabilities and the amount of psychological strain.

Chronic pain in hypermobility syndrome and Ehlers-Danlos syndrome (hypermobility type): it is a challenge.

Generalized joint hypermobility (GJH) is highly prevalent among patients diagnosed with chronic pain. When GJH is accompanied by pain in ≥4 joints over a period ≥3 months in the absence of other conditions that cause chronic pain, the hypermobility syndrome (HMS) may be diagnosed. In addition, GJH is also a clinical sign that is frequently present in hereditary diseases of the connective tissue, such as the Marfan syndrome, osteogenesis imperfecta, and the Ehlers–Danlos syndrome. However, within the Ehlers–Danlos spectrum, a similar subcategory of patients having similar clinical features as HMS but lacking a specific genetic profile was identified: Ehlers–Danlos syndrome hypermobility type (EDS-HT). Researchers and clinicians have struggled for decades with the highly diverse clinical presentation within the HMS and EDS-HT phenotypes (Challenge 1) and the lack of understanding of the pathological mechanisms that underlie the development of pain and its persistence (Challenge 2). In addition, within the HMS/EDS-HT phenotype, there is a high prevalence of psychosocial factors, which again presents a difficult issue that needs to be addressed (Challenge 3). Despite recent scientific advances, many obstacles for clinical care and research still remain. To gain further insight into the phenotype of HMS/EDS-HT and its mechanisms, clearer descriptions of these populations should be made available. Future research and clinical care should revise and create consensus on the diagnostic criteria for HMS/EDS-HT (Solution 1), account for clinical heterogeneity by the classification of subtypes within the HMS/EDS-HT spectrum (Solution 2), and create a clinical core set (Solution 3).

Disability in Adolescents and Adults Diagnosed With Hypermobility-Related Disorders: A Meta-Analysis

OBJECTIVE To (1) establish the association of the most common reported symptoms on disability; and (2) study the effectiveness of treatment on disability in patients with Ehlers-Danlos syndrome-hypermobility type (EDS-HT)/hypermobility syndrome (HMS). DATA SOURCES An electronic search (Medical Subject Headings and free-text terms) was conducted in bibliographic databases CENTRAL/MEDLINE. STUDY SELECTION Comparative, cross-sectional, longitudinal cohort studies and (randomized) controlled trials including patients with HMS/EDS-HT aged ≥17 years were considered for inclusion. A class of symptoms was included when 5 publications were available. In regards to treatment (physical, cognitive interventions), only (randomized) controlled trials were considered. Surgical and medicinal interventions were excluded. DATA EXTRACTION Bias was assessed according to the methodological scoring tools of the Cochrane collaboration. Z-score transformations were applied to classify the extent of disability in comparison with healthy controls and to ensure comparability between studies. DATA SYNTHESIS Initially, the electronic search yielded 714 publications, and 21 articles remained for analysis after selection. The following symptoms were included for meta-analysis: pain (n=12), fatigue (n=6), and psychological distress (n=7). Pain (r=.64, P=.021), fatigue (r=.91, P=.011), and psychological distress (r=.86, P=.018) had a significant impact on disability. Regarding treatment, a significant pain reduction was achieved by a variety of physical and cognitive approaches. Treatment effectiveness on disability was not established. CONCLUSIONS Disability can affect patients with HMS/EDS-HT significantly and is highly correlated with both physical and psychological factors. Although evidence is available that physical and psychological treatment modalities can induce significant pain reduction, the evidence regarding disability reduction is lacking.

The functional consequences of Generalized Joint Hypermobility: a cross-sectional study

BackgroundGeneralized Joint Hypermobility (GJH) has been found to be associated with musculoskeletal complaints and disability. For others GJH is seen as a prerequisite in order to excel in certain sports like dance. However, it remains unclear what the role is of GJH in human performance. Therefore, the purpose of the study was to establish the association between GJH and functional status and to explore the contribution of physical fitness and musculoskeletal complaints to this association.MethodsA total of 72 female participants (mean age (SD; range): 19.6 (2.2; 17-24)) were recruited among students from the Amsterdam School of Health Professions (ASHP) (n = 36) and the Amsterdam School of Arts (ASA), Academy for dance and theater (n = 36) in Amsterdam, The Netherlands. From each participant the following data was collected: Functional status performance (self-reported Physical activity level) and capacity (walking distance and jumping capacity: side hop (SH) and square hop (SQH)), presence of GJH (Beighton score ≥4), muscle strength, musculoskeletal complaints (pain and fatigue) and demographic characteristics (age and BMI).ResultsGJH was negatively associated with all capacity measures of functional status. Subjects with GJH had a reduced walking distance (B(SE):-75.5(10.5), p = <.0001) and jumping capacity (SH: B(SE):-10.10(5.0), p = .048, and SQH: B(SE):-11.2(5.1), p = .024) in comparison to subjects without GJH, when controlling for confounding: age, BMI and musculoskeletal complaints. In participants with GJH, functional status was not associated with performance measures.ConclusionGJH was independently associated with lower walking and jumping capacity, potentially due to the compromised structural integrity of connective tissue. However, pain, fatigue and muscle strength were also important contributors to functional status.

The evidence-based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers Danlos syndrome

New insights into the phenotype of Joint Hypermobility Syndrome (JHS) and Ehlers‐Danlos Syndrome‐hypermobile type (hEDS) have raised many issues in relation to classification, diagnosis, assessment, and treatment. Within the multidisciplinary team, physical therapy plays a central role in management of individuals with hypermobility related disorders. However, many physical therapists are not familiar with the diagnostic criteria, prevalence, common clinical presentation, and management. This guideline aims to provide practitioners with the state of the art regarding the assessment and management of children, adolescents, and adults with JHS/hEDS. Due to the complexity of the symptoms in the profile of JHS/hEDS, the International Classification of Functioning, Disability and Health (ICF) is adopted as a central framework whereby the umbrella term of disability is used to encompass functions, activities and participation, as well as environmental and personal factors. The current evidence‐based literature regarding the management of JHS/hEDS is limited in size and quality and there is insufficient research exploring the clinical outcomes of a number of interventions. Multicenter randomized controlled trials are warranted to assess the clinical and cost‐effectiveness of interventions for children and adults. Until further multicenter trials are conducted, clinical decision‐making should be based on theoretical and the current limited research evidence. For all individuals diagnosed with JHS/hEDS, international consensus and combined efforts to identify risk profiles would create a better understanding of the pathological mechanisms and the potential for optimizing health care for affected individuals.

Generalized Hyperalgesia in children and adults diagnosed with Hypermobility Syndrome and Ehlers-Danlos Syndrome Hypermobility type: a discriminative analysis

Lowered pressure‐pain thresholds have been demonstrated in adults with Ehlers‐Danlos syndrome hypermobility type (EDS‐HT), but whether these findings are also present in children is unclear. Therefore, the objectives of the study were to determine whether generalized hyperalgesia is present in children with hypermobility syndrome (HMS)/EDS‐HT, explore potential differences in pressure‐pain thresholds between children and adults with HMS/EDS‐HT, and determine the discriminative value of generalized hyperalgesia.

Generalized joint hypermobility, muscle strength and physical function in healthy adolescents and young adults.

BACKGROUND Generalized Joint Hypermobility (GJH) is regarded as the main diagnostic criterion for Hypermobility Syndrome and is assumed to be of importance for the development of musculoskeletal complaints and functional decline. However GJH is also highly prevalent amongst healthy individuals whereas its consequences for physical functioning are unclear. Therefore the objective of the study was to determine the association of GJH with physical functioning in healthy adolescents and young adults. METHODS 328 participants (mean age (sd): 20.2 (1.8), gender (male/female): 134/194) were included. In order to establish the effect of GJH, subjects with symptomatic forms of GJH were excluded, as were subjects with other conditions that could influence physical functioning. Age, gender, BMI, GJH, muscle strength and physical activity level (PAL) in METS were collected. RESULTS GJH was associated with reduced muscle strength for all muscle groups (p=<.05), controlled for age and BMI. Ranging from -0.7 to -1.0SD in females and -.3 to -1.3SD in males. GJH was found to be significantly associated with higher amounts of METS spent on cycling, ranging from +0.2 to +0.9SD in females (p=.002) and +0.3 to +0.9SD in males (p=.041), where lower amounts of METS spent on sports activities was observed, ranging from -0.4 to -1.2SD in females (p=.002) and -0.2 to -1.9SD in males (p=.004). CONCLUSION Individuals with GJH have reduced muscle strength and tend to avoid dynamic activities and prefer more stable activities, like cycling. This may indicate that individuals with GJH adapt their behaviour to prevent musculoskeletal complaints and functional decline.

The natural history of children with joint hypermobility syndrome and Ehlers–Danlos hypermobility type: a longitudinal cohort study

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 (P ⩽ 0.05) 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 complaints (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.

Is Motor Performance in 5.5-Year-Old Children Associated with the Presence of Generalized Joint Hypermobility?

OBJECTIVE To determine the prevalence of generalized joint hypermobility (GJH) in Dutch children aged 5.5 years, and to examine the association between GJH and motor performance and development over time. STUDY DESIGN A prospective cohort of 249 children was recruited. GJH was assessed with the Beighton test at age 5.5 years. Motor performance was evaluated at age 2.0 years using the Bayley Scales of Infant Development, Second Edition and at age 5.5 years using the Movement Assessment Battery for Children-Second Edition (subscore categories: manual dexterity, aiming and catching, and static and dynamic balance). RESULTS In 249 children, the prevalence of GJH, defined by the Beighton test score, was 34.1% for a score ≥ 4, 22.5% for a score ≥ 5, and 16.5% for a score ≥ 6. No significant association was found between GJH and total motor performance. Manual dexterity in girls (Beighton score ≥ 4) was positively associated with higher level of motor performance (β [SE] = 0.38 [0.17]; P = .028), ranging from +0.04 SD to +0.72 SD, even after correction for covariates. A significant interaction between GJH and body mass index (BMI) growth was found, indicating that the effect of GJH on the rate of development of motor performance declines with increasing BMI growth (β = 0.05 [0.02]; P = .031). CONCLUSION In this healthy pediatric cohort, GJH was present in one-third of the sample, and no significant association was found between GJH and total motor performance. The effect of GJH on the rate of development of motor performance appears to decline with increasing BMI growth. Longitudinal prospective studies are recommended to detect influences of GJH on motor performance over time, as well as the influence of body composition and Beighton cutoff points.