21st century (clinical) decision support in nursing and allied healthcare. Developing a learning health system: a reasoned design of a theoretical framework.

In this paper, we present a framework for developing a Learning Health System (LHS) to provide means to a computerized clinical decision support system for allied healthcare and/or nursing professionals. LHSs are well suited to transform healthcare systems in a mission-oriented approach, and is being adopted by an increasing number of countries. Our theoretical framework provides a blueprint for organizing such a transformation with help of evidence based state of the art methodologies and techniques to eventually optimize personalized health and healthcare. Learning via health information technologies using LHS enables users to learn both individually and collectively, and independent of their location. These developments demand healthcare innovations beyond a disease focused orientation since clinical decision making in allied healthcare and nursing is mainly based on aspects of individuals' functioning, wellbeing and (dis)abilities. Developing LHSs depends heavily on intertwined social and technological innovation, and research and development. Crucial factors may be the transformation of the Internet of Things into the Internet of FAIR data & services. However, Electronic Health Record (EHR) data is in up to 80% unstructured including free text narratives and stored in various inaccessible data warehouses. Enabling the use of data as a driver for learning is challenged by interoperability and reusability.To address technical needs, key enabling technologies are suitable to convert relevant health data into machine actionable data and to develop algorithms for computerized decision support. To enable data conversions, existing classification and terminology systems serve as definition providers for natural language processing through (un)supervised learning.To facilitate clinical reasoning and personalized healthcare using LHSs, the development of personomics and functionomics are useful in allied healthcare and nursing. Developing these omics will be determined via text and data mining. This will focus on the relationships between social, psychological, cultural, behavioral and economic determinants, and human functioning.Furthermore, multiparty collaboration is crucial to develop LHSs, and man-machine interaction studies are required to develop a functional design and prototype. During development, validation and maintenance of the LHS continuous attention for challenges like data-drift, ethical, technical and practical implementation difficulties is required.

An exploratory study of clinical characteristics and gait features of adolescents with hypermobility disorders.

BACKGROUND: In 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). METHODS: Thirty-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. RESULTS: The 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). SIGNIFICANCE: A 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.

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.

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. © 2017 Wiley Periodicals, Inc.

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.

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).

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 (ß [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 (ß = 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.

The functional consequences of generalized joint hypermobility: a cross-sectional study.

BACKGROUND: Generalized 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. METHODS: A 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). RESULTS: GJH 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. CONCLUSION: GJH 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.

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.