Jane Simmonds

Introduction: Hypermobility spectrum disorders (HSD) and hypermobile Ehlers-Danlos syndrome (hEDS) are often accompanied by varied and complex multisystemic comorbid symptoms/conditions. The Spider questionnaire was developed to evaluate the presence and impact of eight common multisystemic comorbidities. Thirty-one questions across eight symptom domains assess neuromusculoskeletal, pain, fatigue, cardiac dysautonomia, urogenital, gastrointestinal, anxiety, and depression symptoms. This study aimed to evaluate the Spider’s construct validity in adults. Method: A cross-sectional observational study was conducted over four stages. Three international patient charities aided recruitment of participants through social media and website advertisements. Adults aged 18 to 65 years, with and without HSD/hEDS, were invited to participate. Validated, frequently used comparator questionnaires were used to establish convergent validity of Spider symptom domains. A control group was recruited for known-group validity analysis. Participants answered each Spider domain and the corresponding comparator questionnaire via surveys hosted by REDCap. Anonymous data were analysed using SPSS. Convergent validity was assessed through Spearman’s correlational analysis and known-group validity through Mann–Whitney U analysis. Results: A total of 11,151 participants were recruited across the four stages. Statistically significant, moderate-to-strong correlations were found between all Spider domains and their comparators (p < 0.001, r = 0.63 to 0.80). Known-group validity analysis showed statistically significant differences (p < 0.001) between the hypermobile and control groups in all eight domains. Conclusions: Convergent and known-group validity of the Spider was established with adults. These results suggest the Spider can measure the presence and impact of multisystemic comorbid symptoms/conditions in adults with HSD/hEDS, providing a tool which guides multidisciplinary management. Key Points• The Spider questionnaire is a novel tool assessing the presence and impact of the multisystemic comorbid symptoms/conditions associated with HSD/hEDS.• Convergent and known-group validity of the Spider questionnaire was established in adults aged 18 to 65.• This tool provides a quick and easy method to visualise the symptom profile of those with HSD/hEDS to guide symptom management.

Background: Hypermobile Ehlers–Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) are debilitating conditions. Diagnosis is currently clinical in the absence of biomarkers, and criteria developed for adults are difficult to use in children and biologically immature adolescents. Generalized joint hypermobility (GJH) is a prerequisite for hEDS and generalized HSD. Current literature identifies a large proportion of children as hypermobile using a Beighton score ≥ 4 or 5/9, the cut off for GJH in adults. Other phenotypic features from the 2017 hEDS criteria can arise over time. Finally, many comorbidities described in hEDS/HSD are also seen in the general pediatric and adolescent population. Therefore, pediatric specific criteria are needed. The Paediatric Working Group of the International Consortium on EDS and HSD has developed a pediatric diagnostic framework presented here. The work was informed by a review of the published evidence. Observations: The framework has 4 components, GJH, skin and tissue abnormalities, musculoskeletal complications, and core comorbidities. A Beighton score of ≥ 6/9 best identifies children with GJH at 2 standard deviations above average, based on published general population data. Skin and soft tissue changes include soft skin, stretchy skin, atrophic scars, stretch marks, piezogenic papules, and recurrent hernias. Two symptomatic groups were agreed: musculoskeletal and systemic. Emerging comorbid relationships are discussed. The framework generates 8 subgroups, 4 pediatric GJH, and 4 pediatric generalized hypermobility spectrum disorders. hEDS is reserved for biologically mature adolescents who meet the 2017 criteria, which also covers even rarer types of Ehlers–Danlos syndrome at any age. Conclusions: This framework allows hypermobile children to be categorized into a group describing their phenotypic and symptomatic presentation. It clarifies the recommendation that comorbidities should be defined using their current internationally accepted frameworks. This provides a foundation for improving clinical care and research quality in this population.

There is exponential clinical and research interest in joint hypermobility due to recognition of the complexity of identification, assessment, and its appropriate referral pathways, ultimately impacting management. This state-of-the-science review provides an international, multidisciplinary perspective on the presentation, etiology, and assessment of joint hypermobility, as it presents in those with and without a systemic condition. We synthesize the literature, propose standardizing the use of terminology and outcome measures, and suggest potential management directions. The major topics covered are (i) historical perspectives; (ii) current definitions of hypermobility, laxity, and instability; (iii) inheritance and acquisition of hypermobility; (iv) traditional and novel assessments; (v) strengths and limitations of current assessment tools; (vi) age, sex, and racial considerations; (vii) phenotypic presentations; (viii) generalized hypermobility spectrum disorder and hypermobility Ehlers-Danlos syndrome; and (ix) clinical implications and research directions. A thorough understanding of these topics will equip the reader seeking to manage individuals presenting with joint hypermobility, while mindful of its etiology. Management of generalized joint hypermobility in the context of a complex, multisystem condition will differ from that of acquired hypermobility commonly seen in performing artists, specific athletic populations, posttrauma, and so on. In addition, people with symptomatic hypermobility present predominantly with musculoskeletal symptoms and sometimes systemic symptoms including fatigue, orthostatic intolerance, and gastrointestinal or genitourinary issues. Some also display skeletal deformities, tissue and skin fragility, and structural vascular or cardiac differences, and these warrant further medical follow-up. This comprehensive review on the full spectrum of joint hypermobility will assist clinicians, coaches/sports trainers, educators, and/or researchers in this area.

Background: The PULSE (PostUraL tachycardia Syndrome Exercise) study is a randomised controlled trial assessing the feasibility of conducting a multicentre RCT testing supervised exercise rehabilitation with behavioural and motivational support, compared to best-practice usual care, for people with Postural Tachycardia Syndrome (PoTS). The original trial protocol was published in BMC Pilot & Feasibility Studies (accessible at 10.1186/s40814-020-00702-1). The PULSE intervention consists of (1) individual assessment; (2) 12-week, twice-weekly, supervised exercise training; (3) behavioural and motivational support; and (4) guided lifestyle physical activity. The control intervention is best-practice usual care with a single 30-min, one-to-one practitioner appointment, and general advice on safe and effective physical activity. Sixty-two people (aged 18–60 years) with a confirmed diagnosis of PoTS will be invited to enrol on a feasibility RCT with an embedded qualitative study. The primary outcome will be feasibility; process-related measures will include eligibility, recruitment, randomisation and withdrawal rates, along with indicators of exercise programme adherence and acceptability. Secondary physiological, clinical and health-related outcomes will be assessed. In response to the COVID-19 pandemic, here we describe amendments to the trial protocol. Methods: Restrictions imposed by the COVID-19 pandemic meant it was necessary to change the delivery of the PULSE and control interventions. These changes reflected the need to limit the risk of COVID-19 transmission in a clinical population, some of whom were at increased risk of contracting the virus and suffering serious illness. The major change was that the originally intended centre-based PULSE and control interventions would now be delivered remotely on-line. Subsequently, there were minor changes to the participant eligibility criteria. These decisions followed an on-line co-creation session with people affected by PoTS, and relevant public and professional stakeholders. Conclusions: We present an update of the original trial protocol in response to the COVID-19 pandemic. No participants were recruited to the original protocol; thus, results will reflect the on-line delivery of the intervention. PULSE will be the first randomised trial to assess the feasibility of conducting a definitive multi-centre RCT testing supervised on-line exercise rehabilitation with behavioural and motivational support, compared to best-practice usual care, for people with PoTS. Trial registration: ISRCTN45323485 registered on 7 April 2020.

Children with symptomatic joint hypermobility (SJH) report chronic pain, fatigue, and joint instability as their main symptoms. Symptoms can extend beyond musculoskeletal and include lower urinary tract dysfunction (LUTD). There are no studies exploring parent‐perceived quality of life (QoL) in children with LUTD, or strategies used to manage symptoms in this population. Our online cross‐sectional survey assessed parents of 6–18‐year‐olds via two UK charitable organizations. It included the Pediatric Incontinence Questionnaire (PinQ), the Dysfunctional Voiding Symptom Score, and questions exploring treatments and efficacy. Sixty‐seven parental questionnaires were analyzed. The majority of children were white females (95%, n = 64). Urgency (97%, n = 65) and enuresis (41.7%, n = 28) were the most frequently reported symptoms. The PinQ questionnaire showed that children were emotionally distressed by LUTD. Twenty‐nine parents (43%, n = 29) reported pharmacotherapy as the most effective treatment. Few had accessed other treatments such as physiotherapy (16%, n = 18). Most parents reported that overall treatment did not meet their expectations. This study highlights that parents perceive LUTD as having a great impact on their child's QoL. There is need for education among clinicians about LUTD and hypermobility‐related disorders, and for development and evaluation of treatments.

There has been increasing recognition in recent years of the prevalence and impact of symptoms which extend beyond the musculoskeletal system on the lives of people with hypermobility‐related disorders. This has led researchers to develop more comprehensive assessment tools to help direct and monitor treatment. This article presents some of the latest assessment and diagnostic developments and their implications for practice from a physical therapy perspective.