BackgroundIn adolescents with non-pathological and pathological joint hypermobility, gait deviations have been associated with pain and fatigue. It remains unclear what distinguishes the non-pathological form of joint hypermobility (JH) from pathological forms (i.e. hypermobile Ehlers-Danlos syndrome (hEDS) or hypermobility spectrum disorders (HSD). Our objective was to identify discriminative clinical characteristics and biomechanical gait features between adolescents with hEDS/HSD, JH, and healthy controls (HC).MethodsThirty-two adolescents were classified into three subgroups (hEDS/HSD=12, JH=5, HC=15). Clinical characteristics (e.g. pain intensity and surface, fatigue, functional disability) were inventoried.The gait pattern was assessed using a three-dimensional, eight-camera VICON MX1.3 motion capture system, operating at a sample rate of 100 Hz (VICON, Oxford, UK). Spatiotemporal parameters, joint angles (sagittal plane), joint work, joint impulse, ground reaction force and gait variability expressed as percentage using Principal Component Analysis (PCA) were assessed and analysed using multivariate analysis. Multivariate analysis data is expressed in mean differences(MD), standard error(SE) and P-values.ResultsThe hEDS/HSD-group had significantly higher fatigue score (+51.5 points, p = <0.001) and functional disability (+1.6, p < .001) than the HC-group. Pain intensity was significantly higher in the hEDS/HSD-group than the other subgroups (JH; +37 mm p = .004, HC; +38 mm, p = .001). The hEDS/HSD-group showed significantly more gait variability (JH; +7.2(2.0)% p = .003, HC; + 7.8(1.4)%, p = <0.001) and lower joint work (JH; −0.07(0.03)J/kg, p = .007, HC; − 0.06(0.03)J/kg, p = .013) than the other subgroups. The JH-group showed significantly increased ankle dorsiflexion during terminal stance (+5.0(1.5)degree, p = .001) compared to hEDS/HSD-group and knee flexion during loading response compared to HC-group (+5.7(1.8) degree, p = .011).SignificanceA distinctive difference in gait pattern between adolescents with non-pathological and pathological joint hypermobility is found in gait variability, rather than in the biomechanical features of gait. This suggests that a specific gait variability metric is more appropriate than biomechanical individual joint patterns for assessing gait in adolescents with hEDS/HSD.
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ObjectiveMajor issues in children with Marfan syndrome (MFS) are pain, fatigue and joint hypermobility which might influence functional ability. We recently studied these aspects in children with Ehlers-Danlos syndrome hypermobility type (EDS-HT) and hypermobility spectrum disorders (HSD). What can be learned from this research regarding diagnostics and treatment for children with MFS and children with EDS other than EDS-HT? Methods We followed 101 children and adolescents with EDS and HSD for three years and studied the presence of pain, fatigue and functional ability as well as the presence of multi-systemic complaints (eg. dysautonomia). In 255 adolescents and adults with EDS and HSD, we studied the presence of pain, fatigue and functional ability. In 19 children and their parents with Marfan syndrome, we performed qualitative research regarding pain, fatigue and functional ability.ResultsChildren with a high incidence of multi-systemic complaints, and significant pain and fatigue at baseline were most likely to have a deteriorating trajectory of functional impairment. Besides joint hypermobility and chronic pain, generalized hyperalgesia was also found, possibly indicating central nervous system involvement.We stated that in children and adolescents with EDS-HT and HSD, identifying risk profiles are important to clarify the pathological mechanisms involved, and to develop interdisciplinary treatment strategies. Parents perceive a large impact of MFS on daily life of children, parents and family. Adolescents with MFS perceived problems in keeping up with peers in school, work, sports, leisure and friendships/relationships and perceived to be and feel different from peers due to appearance and disabilities. Conclusion Based on lessons learned in EDS-HT and HSD, we designed a longitudinal follow-up study in 150 children and adolescents with MFS and EDS in the Netherlands and Belgium. Disease characteristics, functional ability, exercise capacity, symptoms of pain and fatigue and psycho-social wellbeing will be studied. We will identify risk profiles for functional decline and develop therapeutic rehabilitation strategies. The first results of qualitative research in MFS adolescents warrants awareness and individual tailored physical, psychosocial, educational and environmental support programs to improve physical functioning and empowerment of teenagers with MFS. Longitudinal studies have been started.
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A significant proportion of adolescents with chronic musculoskeletal pain (CMP) experience difficulties in physical functioning, mood and social functioning, contributing to diminished quality of life. Generalized joint hypermobility (GJH) is a risk factor for developing CMP with a striking 35-48% of patients with CMP reporting GJH. In case GJH occurs with one or more musculoskeletal manifestations such as chronic pain, trauma, disturbed proprioception and joint instability, it is referred to as generalized hypermobility spectrum disorder (G-HSD). Similar characteristics have been reported in children and adolescents with the hypermobile Ehlers-Danlos Syndrome (hEDS). In the management of CMP, a biopsychosocial approach is recommended as several studies have confirmed the impact of psychosocial factors in the development and maintenance of CMP. The fear-avoidance model (FAM) is a cognitive-behavioural framework that describes the role of pain-related fear as a determinant of CMP-related disability. Pubmed was used to identify existing relevant literature focussing on chronic musculoskeletal pain, generalized joint hypermobility, pain-related fear and disability. Relevant articles were cross-referenced to identify articles possibly missed during the primary screening. In this paper the current state of scientific evidence is presented for each individual component of the FAM in hypermobile adolescents with and without CMP. Based on this overview, the FAM is proposed explaining a possible underlying mechanism in the relations between GJH, pain-related fear and disability. It is assumed that GJH seems to make you more vulnerable for injury and experiencing more frequent musculoskeletal pain. But in addition, a vulnerability for heightened pain-related fear is proposed as an underlying mechanism explaining the relationship between GJH and disability. Further scientific confirmation of this applied FAM is warranted to further unravel the underlying mechanism. In explaining disability in individuals with G-HSD/hEDS, it is important to focus on both the physical components related to joint hypermobility, in tandem with the psychological components such as pain-related fear, catastrophizing thoughts and generalized anxiety.
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