Objective Reduced maximal muscle strength and strength endurance have been found in patients with hypermobile Ehlers‐Danlos syndrome/hypermobility spectrum disorder (hEDS/HSD) and are recognized as common associated features of the disorder. However, the extent to which these parameters change over time is currently not documented. Therefore, the purpose of this 8‐year follow‐up study was to investigate this evolution. Methods Thirty female patients (mean age 41 years) with hEDS/HSD and 17 controls participated at baseline and 8 years later. Maximal muscle strength and strength endurance tests of the knee flexors and extensors, and 2 lower‐extremity posture maintenance tests were performed to evaluate static strength endurance. In addition, muscle mass and density were evaluated by dual‐energy x‐ray absorptiometry and peripheral quantitative computed tomography. Results Maximal muscle strength and strength endurance were significantly lower at both baseline and follow‐up in the hEDS/HSD group compared to the control group (P ≤ 0.007). Maximal muscle strength of the knee flexors (decreased in the control group: pɳ2 = 0.139), strength endurance of the knee extensors (decreased in the hEDS/HSD group and increased in the control group: pɳ2 = 0.244), and muscle density (decreased in the hEDS/HSD group: pɳ2 = 0.263) showed a significantly different evolution over 8 years. No other significant differences in evolution were found. Conclusion Decreased muscle strength was identified at both time points in patients with hEDS/HSD. The evolution of most muscle strength parameters over time did not significantly differ between groups. Future studies should focus on the effectiveness of different types of muscle training strategies in hEDS/HSD patients.
Background Skeletal dysplasia are genetic disorders of cartilage and bone, characterized by impairments commonly resulting in short stature, altered movement biomechanics, pain, fatigue and reduced functional performance. While current tools quantify functional mobility performance, they have not been standardly used in this population group and do not capture patient-reported symptoms such as pain or fatigue. This study evaluated a new tool, the Screening Tool for Everyday Mobility and Symptoms (STEMS), designed to accurately and objectively assess functional mobility and associated symptomology for individuals with skeletal dysplasia. Methods Individuals aged 5–75 years with a skeletal dysplasia completed the STEMS, the Functional Mobility Scale (FMS) and Six Minute Walk Test (6MWT). The correlation among the STEMS, use of mobility aides, FMS and 6MWT normalised for leg length was calculated. One-way analysis of variance compared the STEMS symptomatology to normalised 6MWT distance. Results One hundred and fifty individuals with skeletal dysplasia (76 achondroplasia, 42 osteogenesis imperfecta, 32 other; 74 < 18 years, 76 ≥ 18 years) participated. Almost two thirds of the group reported pain and/or fatigue when mobilising at home, at work or school and within the community, but only twenty percent recorded use of a mobility device. The STEMS setting category demonstrated highly significant correlations with the corresponding FMS category (r = − 0.983 to − 0.0994, all p < 0.001), and a low significant correlation with the normalised 6MWT distance (r = − 0.323 to − 0.394, all p < 0.001). A decreased normalised 6MWT distance was recorded for individuals who reported symptoms of pain and/or fatigue when mobilising at home or at work/school (all p ≤ 0.004). Those who reported pain only when mobilising in the community had a normal 6MWT distance (p = 0.43–0.46). Conclusions The Screening Tool for Everyday Mobility and Symptoms (STEMS) is a useful new tool to identify and record mobility aide use and associated self-reported symptoms across three environmental settings for adults and children with skeletal dysplasia. The STEMS may assist clinicians to monitor individuals for changes in functional mobility and symptoms over time, identify individuals who are functioning poorly compared to peers and need further assessment, and to measure effectiveness of treatment interventions in both clinical and research settings.
Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous heritable connective tissue disorder mainly characterized by bone fragility and increased fracture risk. This study investigated bone parameters in adults with OI type I and their relationship with physical activity and muscle function parameters in comparison with controls. A total of 27 (15 women, 12 men) adults with OI type I and 27 healthy age‐ and sex‐matched controls, with mean age 45 years (range 18–72 years), were included. Peripheral quantitative computed tomography was performed at the lower leg and forearm to assess muscle density, muscle and fat cross‐sectional area (CSA) (66% site), and trabecular (4% site) and cortical bone parameters (66% site) at radius and tibia. Physical activity (step count and moderate‐to‐vigorous physical activity [MVPA]) was assessed by accelerometry, muscle function parameters by Leonardo mechanography (single two‐legged jump – peak power), and hand grip dynamometry (maximal hand grip strength). Overall, the OI type I group had significantly lower muscle CSA at the lower leg and forearm, lower trabecular and cortical bone mineral content, lower polar stress–strain index (SSIp), and smaller cortices but higher cortical bone mineral density and lower step count and MVPA in comparison with controls. Maximal hand grip strength was positively associated with SSIp at radius (p = 0.012) in the control group but not in the OI type I group (p = 0.338) (difference in associations: p = 0.012). No other significantly different associations between bone and muscle function parameters or physical activity (step count or MVPA) were found in the OI type I versus control group. We conclude that adults with OI type I have smaller bones, lower trabecular bone mass, lower estimates of bone strength, and higher cortical density in comparison with controls and that there are some indications of a disturbed biomechanical muscle–bone relationship in adults with OI type I. © 2022 American Society for Bone and Mineral Research (ASBMR).
Aims: Research objectively evaluating physical activity (PA) and sleep in adults with hypermobile Ehlers-Danlos syndrome (hEDS) and generalized hypermobility spectrum disorder (G-HSD) is lacking. Furthermore, it is not clear to what extent frequently occurring symptoms in these patients are related to their PA and sleep. Therefore, a cross-sectional study was performed to objectively evaluate, and identify factors contributing to, PA and sleep in adults with hEDS and G-HSD.Methods: Twenty female adults with hEDS, 23 with G-HSD, and 32 healthy controls participated. Physical activity and sleep were measured using two tri-axial ActiGraphs worn over seven consecutive days. Furthermore, questionnaires evaluating frequently occurring symptoms were completed. Regression analysis
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