Birgit Juul-Kristensen

The 2017 international classification of the Ehlers-Danlos syndromes.

The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Over the past two decades, the Villefranche Nosology, which delineated six subtypes, has been widely used as the standard for clinical diagnosis of EDS. For most of these subtypes, mutations had been identified in collagen‐encoding genes, or in genes encoding collagen‐modifying enzymes. Since its publication in 1998, a whole spectrum of novel EDS subtypes has been described, and mutations have been identified in an array of novel genes. The International EDS Consortium proposes a revised EDS classification, which recognizes 13 subtypes. For each of the subtypes, we propose a set of clinical criteria that are suggestive for the diagnosis. However, in view of the vast genetic heterogeneity and phenotypic variability of the EDS subtypes, and the clinical overlap between EDS subtypes, but also with other HCTDs, the definite diagnosis of all EDS subtypes, except for the hypermobile type, relies on molecular confirmation with identification of (a) causative genetic variant(s). We also revised the clinical criteria for hypermobile EDS in order to allow for a better distinction from other joint hypermobility disorders. To satisfy research needs, we also propose a pathogenetic scheme, that regroups EDS subtypes for which the causative proteins function within the same pathway. We hope that the revised International EDS Classification will serve as a new standard for the diagnosis of EDS and will provide a framework for future research purposes.

Motor Competence and Physical Activity in 8-Year-Old School Children With Generalized Joint Hypermobility

OBJECTIVE: Because the criteria used for diagnosing between generalized joint hypermobility (GJH) and musculoskeletal complaints, as well as relations between GJH and an insufficient motor development and/or a reduced physical activity level differ, the prevalence of GJH varies considerably. The aim of this study was to survey the prevalence of GJH defined by a Beighton score at ≥4, ≥5, or ≥6 positive tests of 9 and benign joint hypermobility syndrome (BJHS) in Danish primary school children at 8 years of age. A second aim was to compare children with and without GJH and BJHS regarding motor competence, self-reported physical activity, and incidence of musculoskeletal pain and injuries. METHODS: A cross-sectional study of 524 children in the second grade from 10 public schools was performed. A positive response rate was obtained for 416 (79.4%) children, and 411 (78.4%) children were clinically examined and tested for motor competence, whereas questionnaire response to items comprising musculoskeletal pain and injuries, in addition to daily level and duration of physical activity, corresponded to 377 (71.9%) children. RESULTS: In total, 29% of the children had GJH4, 19% had GJH5, 10% had GJH6, and 9% had BJHS, with no gender difference. There was no difference in daily level and duration of physical activity and in frequency of musculoskeletal pain and injuries between those with and without GJH. Children with ≥GJH5 as well as with ≥GJH6 performed better in the motor competence tests. CONCLUSION: Motor competence and physical activity are not reduced in primary school children at 8 years of age with GJH or BJHS. It is recommended that a potential negative influence on the musculoskeletal system over time, as a result of GJH, be investigated by longitudinal studies.

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.

Lack of consensus on tests and criteria for generalized joint hypermobility, Ehlers–Danlos syndrome: Hypermobile type and joint hypermobility syndrome

The objectives of this study were to register clinicians performance and opinion of importance of clinical tests for generalized joint hypermobility (GJH), Ehlers–Danlos syndrome, hypermobility type (EDS‐HT) and joint hypermobility syndrome (JHS), and to reach a consensus among clinicians on criteria for diagnosing GJH, EDS‐HT and JHS. A panel of clinicians answered questions about how to perform and interpret clinical tests and rated test importance on an 11‐box scale. The questionnaire was developed on the basis of information from focus groups and the literature. Cronbachs α was used as a measure of internal consistency/consensus among the panelists. The results showed Cronbachs α on importance score of items for diagnosing GJH, EDS‐HT and JHS was 0.61, 0.79, and 0.44, respectively. Panelist‐group correlation for the three conditions varied substantially (−0.46 to 0.89, 0.03 to 0.68, and −0.07 to 0.68) indicating heterogeneity among the panelists. There was agreement on which tests to use, but performance of the tests (i.e., the specific maneuvers) varied considerably inclusive use of tests with unknown reliability. Furthermore, agreement on the diagnostic criteria varied. We conclude that the level of consensus for the importance of various items for diagnosing GJH, EDS‐HT and JHS, was below the required limit (Cronbachs α >0.90) for clinical decision‐making and diagnosing. Consensus on tests and criteria through a Delphi process could not be reached. Better descriptions of, and reliability studies on, test maneuvers and criteria sets for these conditions are needed. Subsequent intensive training and implementation of these tests and criteria, nationally as well as internationally should be established.

Inter-examiner reproducibility of tests for lumbar motor control

BackgroundMany studies show a relation between reduced lumbar motor control (LMC) and low back pain (LBP). However, test circumstances vary and during test performance, subjects may change position. In other words, the reliability - i.e. reproducibility and validity - of tests for LMC should be based on quantitative data. This has not been considered before. The aim was to analyse the reproducibility of five different quantitative tests for LMC commonly used in daily clinical practice.MethodsThe five tests for LMC were: repositioning (RPS), sitting forward lean (SFL), sitting knee extension (SKE), and bent knee fall out (BKFO), all measured in cm, and leg lowering (LL), measured in mm Hg. A total of 40 subjects (14 males, 26 females) 25 with and 15 without LBP, with a mean age of 46.5 years (SD 14.8), were examined independently and in random order by two examiners on the same day. LBP subjects were recruited from three physiotherapy clinics with a connection to the clinics gym or back-school. Non-LBP subjects were recruited from the clinics staff acquaintances, and from patients without LBP.ResultsThe means and standard deviations for each of the tests were 0.36 (0.27) cm for RPS, 1.01 (0.62) cm for SFL, 0.40 (0.29) cm for SKE, 1.07 (0.52) cm for BKFO, and 32.9 (7.1) mm Hg for LL. All five tests for LMC had reproducibility with the following ICCs: 0.90 for RPS, 0.96 for SFL, 0.96 for SKE, 0.94 for BKFO, and 0.98 for LL. Bland and Altman plots showed that most of the differences between examiners A and B were less than 0.20 cm.ConclusionThese five tests for LMC displayed excellent reproducibility. However, the diagnostic accuracy of these tests needs to be addressed in larger cohorts of subjects, establishing values for the normal population. Also cut-points between subjects with and without LBP must be determined, taking into account age, level of activity, degree of impairment and participation in sports. Whether reproducibility of these tests is as good in daily clinical practice when used by untrained examiners also needs to be examined.

Increased neck muscle activity and impaired balance among females with whiplash-related chronic neck pain: a cross-sectional study.

OBJECTIVE To investigate neck muscle activity and postural control in patients with whiplash-associated disorder compared with healthy controls. DESIGN Cross-sectional study with convenience sampling. SUBJECTS Ten females with whiplash-associated disorder (age 37.7 years (21-58), neck pain > 2 years and neck disability index (NDI) > 10) and 10 healthy female controls (age 35.9 years (21-53), NDI < 6). METHODS Surface electromyography measured muscle activity of the anterior scalene, sternocleidomastoid, neck extensors and upper trapezius muscles, expressed as mean relative activity related to maximum voluntary electromyography (%MVE). On a force plate, 3 balance tasks (Romberg stance with open and closed eyes, 1-legged stance) and a perturbation task with sudden unloading, were performed. The total area, areas from slow and fast components, and range of displacements were calculated from decomposed centre of pressure anterior-posterior and medial-lateral signals. RESULTS During balance tasks with closed eyes and one-legged stance, the relative mean activity of all 4 muscles was significantly increased in whiplash-associated disorder compared with healthy controls. Postural sway was also significantly increased. CONCLUSION Increased neck muscle activity and increased postural sway during simple balance tasks indicate disturbed sensory feedback patterns in people with whiplash-associated disorder, which may have negative consequences when performing daily activities.

Knee function in 10-year-old children and adults with Generalised Joint Hypermobility.

PURPOSE Knee function is reduced in patients with Benign Joint Hypermobility Syndrome. The aim was to study knee function in children and adults with Generalised Joint Hypermobility (GJH) and Non-GJH (NGJH)). MATERIALS AND METHODS In a matched comparative study, 39 children and 36 adults (mean age children 10.2 years; adults 40.3 years) were included, comprising 19 children and 18 adults with GJH (Beighton ≥ 5/9; Beighton ≥ 4/9), minimum one hypermobile knee, no knee pain (children), and 20 children and 18 adults with NGJH (Beighton <5; Beighton <4). Totally, 85% of the adults were parents to these children. Knee function was determined by self-reported physical fitness (100mm VAS), Knee injury and Osteoarthritis Outcome Score (KOOS) (only adults), measured maximum isokinetic knee strength (60°/s) and peak vertical jump displacement (PVJD), with calculated knee strength balance, Hamstring/Quadriceps (H/Q) ratio and peak rate of force development (PRFD). RESULTS Adults with GJH had lower knee function (KOOS: pain, p=0.001; symptoms, p=0.001; Activities of Daily Living, p=0.001; Sport/Recreation, p=0.003; knee-related quality of life, p<0.001), and H/Q ratio (0.46 vs. 0.54, p=0.046) than adults with NGJH, regardless of age and knee pain. Both GJH groups had normal physical fitness, isokinetic knee strength, and (only children) H/Q ratio. CONCLUSIONS Children at 10 years with GJH have normal, but adults with GJH have impaired knee function. To track the risk of developing impaired knee function, children with GJH must be followed longitudinally. Meanwhile, attention to knee function may be given to children with GJH who have parents presenting GJH.

Reliability, construct and discriminative validity of clinical testing in subjects with and without chronic neck pain

BackgroundThe reliability of clinical tests for the cervical spine has not been adequately evaluated. Six cervical clinical tests, which are low cost and easy to perform in clinical settings, were tested for intra- and inter-examiner reliability, and two performance tests were assessed for test-retest reliability in people with and without chronic neck pain. Moreover, construct and between-group discriminative validity of the tests were examined.MethodsTwenty-one participants with chronic neck pain and 21 asymptomatic participants were included. Intra- and inter-reliability were evaluated for the Cranio-Cervical Flexion Test (CCFT), Range of Movement (ROM), Joint Position Error (JPE), Gaze Stability (GS), Smooth Pursuit Neck Torsion Test (SPNTT), and neuromuscular control of the Deep Cervical Extensors (DCE). Test-retest reliability was assessed for Postural Control (SWAY) and Pressure Pain Threshold (PPT) over tibialis anterior, infraspinatus and the C3-C4 segment.ResultsIntraclass Correlation Coefficient (ICC) for intra- and inter-examiner reliability was highest for ROM (range: 0.80 to 0.94), DCE (0.75 to 0.90) and CCFT (0.63 to 0.86). JPE had the lowest ICC (0.02 to 0.66). Intra- and inter-reliability for GS and SPNTT showed kappa ranging from 0.66 to 0.92, and 0.57 to 0.78 (prevalence adjusted), respectively. For the test-retest study, ICC was 0.83 to 0.89 for PPT and 0.39 to 0.79 for SWAY. Construct validity was satisfactory for all tests, except JPE. Significant between group discriminative validity was found for CCFT, ROM, GS, SPNTT and PPT, however, differences were within the limits of the minimal detectable change.ConclusionsThe majority of the tests evaluated showed satisfactory reliability and construct validity supporting their use in the clinical evaluation of patients with chronic neck pain.

Effect of generalized joint hypermobility on knee function and muscle activation in children and adults.

Introduction: We investigated muscle activation strategy and performance of knee extensor and flexor muscles in children and adults with generalized joint hypermobility (GJH) and compared them with controls. Methods: Muscle activation, torque steadiness, electromechanical delay, and muscle strength were evaluated in 39 children and 36 adults during isometric knee extension and flexion. Subjects performed isometric maximum contractions, submaximal contractions at 25% maximum voluntary contraction (MVC), and explosive contractions. Results: Agonist activation was reduced, and coactivation ratio was greater in GJH during knee flexion compared with controls. Torque steadiness was impaired in adults with GJH during knee flexion. No effect of GJH was found on muscle strength or electromechanical delay. Correlation analysis revealed an association between GJH severity and function in adults. Conclusions: The results indicate that muscle activation strategy and quality of force control were significantly affected in adults with GJH during knee flexion, whereas only muscle activation strategy was affected in children with GJH. Muscle Nerve 48:762–769, 2013

Neuromuscular control of scapula muscles during a voluntary task in subjects with Subacromial Impingement Syndrome. A case-control study

Imbalance of neuromuscular activity in the scapula stabilizers in subjects with Subacromial Impingement Syndrome (SIS) is described in restricted tasks and specific populations. Our aim was to compare the scapular muscle activity during a voluntary movement task in a general population with and without SIS (n=16, No-SIS=15). Surface electromyography was measured from Serratus anterior (SA) and Trapezius during bilateral arm elevation (no-load, 1kg, 3kg). Mean relative muscle activity was calculated for SA and the upper (UT) and lower part of trapezius (LWT), in addition to activation ratio and time to activity onset. In spite of a tendency to higher activity among SIS 0.10-0.30 between-group differences were not significant neither in ratio of muscle activation 0.80-0.98 nor time to activity onset 0.53-0.98. The hypothesized between-group differences in neuromuscular activity of Trapezius and Serratus was not confirmed. The tendency to a higher relative muscle activity in SIS could be due to a pain-related increase in co-activation or a decrease in maximal activation. The negative findings may display the variation in the specific muscle activation patterns depending on the criteria used to define the population of impingement patients, as well as the methodological procedure being used, and the shoulder movement investigated.