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Rehm A, Newton AC, Ashby E, Linardatou Novak P, Thahir A, Clegg R, Butt J, Hatzantoni K, Ngu AWT, Kobezda T, Shehata R, Ong JCY. Stickler syndrome: associated musculoskeletal manifestations and first population-based incidence. J Pediatr Orthop B 2025; 34:294-304. [PMID: 40146061 DOI: 10.1097/bpb.0000000000001180] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 03/28/2025]
Abstract
The objective of this study is to identify musculoskeletal manifestations associated with Stickler syndrome from an inclusive literature review and to perform the first population study to establish its incidence. We reviewed all for us retrievable publications linked to Stickler syndrome listed in PubMed and publications quoted within these publications going back to 1954. From our medical record data bases, we identified all patients with the diagnosis of Stickler syndrome out of a population of consecutive live births born in our maternity hospital between 2000 and 2016. We identified 504 publications of which we managed to obtain and review 487, listing 6182 patients with Stickler syndrome. Musculoskeletal manifestations were recorded in 161 publications (2157 patients: 649 children, 931 adults, unknown 577), providing information on musculoskeletal findings for 1738 patients. There were 237 lower limb-, 233 spinal- and 80 upper limb abnormalities recorded for children. Hyperlaxity was recorded for 100 and unspecified pain for 70 children and for 77 abnormalities it was not specified if upper or lower limbs were affected. Coronal and axial lower limb malalignment was documented 74 times. We identified four patients with Stickler syndrome out of 87 378 consecutive live births, giving an incidence of 1 in 21 844 live births. Patients with Stickler syndrome present with a large variety of musculoskeletal manifestations. Assessment by a paediatric orthopaedic surgeon in childhood would be beneficial to identify spinal abnormalities and alignment problems, such as coxa vara/valga, abnormal femoral version, genu valgum and distal lateral tibial dysplasia, where guided growth or osteotomies might be useful to alleviate future function and symptoms.
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Affiliation(s)
- Andreas Rehm
- Department of Paediatric Orthopaedics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK
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Braun J. [Chronic pain syndrome in musculoskeletal diseases-how different are fibromyalgia and long Covid?-Part 1]. Z Rheumatol 2025; 84:312-319. [PMID: 39888378 DOI: 10.1007/s00393-024-01603-x] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 10/28/2024] [Indexed: 02/01/2025]
Abstract
Chronic pain is a common problem in rheumatology. Nociceptive pain is distinguished from neuropathic and nociplastic pain. Mechanistically, the former is explained by persistent inflammation, for example. Included in the second category is nerve damage of various causes. In contrast, nociplastic pain is not caused by tissue damage or a lesion in the somatosensory nerve system. It is caused by an altered sensation of pain through the modulation of stimulus processing. The concept of central sensitization, together with further neurobiological and psychosocial mechanisms, best explains such pain conditions. Fibromyalgia (FM) plays a big part in rheumatology - on the one hand, as a differential diagnosis, and on the other, because the management of inflammatory rheumatic conditions is made more difficult by the simultaneous occurrence of FM. In the context of the coronavirus pandemic, persistent pain syndromes with similarities to FM have been described after COVID-19 infection. There is an increasing scientific controversy whether the so-called long Covid syndrome is an actual entity or "only" a variant of FM. This discussion and the current state of knowledge on the problem are the subject of this review.
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Affiliation(s)
- Jürgen Braun
- Rheumatologisches Versorgungszentrum Steglitz, Schloßstr. 110, 12163, Berlin, Deutschland.
- Ruhr Universität Bochum, Bochum, Deutschland.
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Ozbayrak SS, Ozbayrak M. Do cervical spine angles differ in patients with hypermobility who suffer from neck pain? Musculoskelet Sci Pract 2025; 76:103277. [PMID: 39923650 DOI: 10.1016/j.msksp.2025.103277] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/14/2024] [Revised: 01/31/2025] [Accepted: 02/02/2025] [Indexed: 02/11/2025]
Abstract
BACKROUND There has been a noted increase in the number of patients experiencing chronic neck pain who exhibit diminished cervical lordosis upon radiographic examinations. While neck overuse contributes to this trend, early identification and treatment of predisposing factors such as hypermobility can potentially mitigate this increase. OBJECTIVE This study aims to explore the impact of hypermobility on cervical angles, neck disability and health quality in patients experiencing neck pain. PARTICIPANTS Participants aged between 20 and 40 years with neck pain persisting for more than three months were recruited. Patients were stratified based on hypermobility status. Lateral cervical radiographs were obtained to measure various cervical angles. Disability associated with neck pain and health-related quality of life were assessed. The influence of hypermobility on these parameters in neck pain patients was examined. RESULTS Hypermobile patients with neck pain exhibited significantly lower C0-2 Cobb angle (Cohen's d: 0.60), decreased C2-7 angle measured by Jackson physiological stress lines (Cohen's d: 0.42), increased cranial tilt (Cohen's d: 0.561), and greater C2-7 sagittal vertical axis (Cohen's d: 0.36) compared to non-hypermobile patients with neck pain. No significant differences were observed in neck disability or health-related quality of life between hypermobile and non-hypermobile neck pain patients. There was a weak association between a more physiologic cervical lordosis and a lower disability scores among hypermobile patients with neck pain. CONCLUSION Hypermobility may lead to alterations in cervical spinal angles in young adults with neck pain. Early detection and intervention could help maintain cervical angles and prevent lordosis reduction.
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Affiliation(s)
- Sibel Suzen Ozbayrak
- Health Science University, Haydarpasa Numune Research and Training Hospital, Physical Medicine and Rehabilitation Clinic, Istanbul, Turkey.
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Gilbert C, Bennett KM, Bush A, Brown C. Like walking through treacle: the experience of fatigue for young people with interstitial lung disease. Orphanet J Rare Dis 2025; 20:151. [PMID: 40170066 PMCID: PMC11959944 DOI: 10.1186/s13023-025-03607-5] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/20/2024] [Accepted: 02/13/2025] [Indexed: 04/03/2025] Open
Abstract
Interstitial Lung Disease in childhood (chILD) is rare, and little research has been conducted into the experience of fatigue. Fatigue is a complex phenomenon that can be difficult to quantify due to the various physiological and psychological factors involved. However, fatigue can significantly impact a range of quality-of-life areas for those with a respiratory condition. Our aim is to understand if there are any clinical or research needs relating to fatigue for young people with chILD. This qualitative, non-clinical study explores the lived experience of fatigue in young people with chILD. Fifteen participants comprising child-parent dyads (n = 2), young adults (n = 4) and parents (n = 9) were recruited from chILD patient organisations and online communities. We focused on the experience of fatigue in terms of how it is communicated, the symptoms, and their impact. We explored whether any factors led to the young person being motivated to push beyond fatigue. Data was analysed by constructivist grounded theory. There were three main themes of interest: (i) the experience of fatigue that includes reporting abnormal weakness and behavioural affect; (ii) the consequences of fatigue, such as its impact on education, society, and quality-of-life; (iii) motivational strategies and supportive measures that help young people manage their fatigue. Fatigue is a complex, multi-dimensional phenomenon for those living with chILD. For future work, we recommend incorporating the discussion of fatigue into clinic settings to assess any quality-of-life burden factors alongside living with chILD.
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Affiliation(s)
- Carlee Gilbert
- Institute for Population Health, University of Liverpool, Eleanor Rathbone Building Bedford Street South, Liverpool, L697ZA, UK.
| | - Kate M Bennett
- Institute for Population Health, University of Liverpool, Eleanor Rathbone Building Bedford Street South, Liverpool, L697ZA, UK
| | - Andrew Bush
- Imperial College, National Heart and Lung Institute; Royal Brompton Harefield NHS Foundation Trust, London, UK
| | - Christopher Brown
- Institute for Population Health, University of Liverpool, Eleanor Rathbone Building Bedford Street South, Liverpool, L697ZA, UK
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Hulburt TC, Black WR, Bonnette S, Thomas S, Schille A, DiCesare C, Briggs MS, Ounpuu S, Kashikar-Zuck S, Myer GD. Does joint hypermobility exacerbate altered landing and jumping strategies in adolescents with fibromyalgia syndrome compared to controls? Clin Biomech (Bristol, Avon) 2025; 124:106466. [PMID: 40048834 PMCID: PMC11993334 DOI: 10.1016/j.clinbiomech.2025.106466] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/14/2024] [Revised: 01/29/2025] [Accepted: 02/13/2025] [Indexed: 03/28/2025]
Abstract
BACKGROUND Joint hypermobility is common in children and persists in various genetic and connective tissue disorders, including conditions characterized by chronic musculoskeletal pain (i.e. Juvenile Fibromyalgia Syndrome), which involves movement dysfunction. It is unclear if joint hypermobility contributes to this dysfunction. This study investigated whether generalized joint hypermobility is associated with altered landing/jumping biomechanics in adolescents with juvenile fibromyalgia syndrome compared to controls. METHODS Adolescents with juvenile fibromyalgia syndrome and hypermobility (n = 17), juvenile fibromyalgia syndrome without hypermobility (n = 17), and non-hypermobile controls (n = 17) performed a landing/jumping task while 3D-motion capture and ground reaction force data were collected. Timewise data were compared using statistical parametric mapping. FINDINGS Both groups with juvenile fibromyalgia syndrome exhibited altered lower extremity biomechanics compared to controls, including increased sagittal hip and ankle kinematics (P < 0.0001), ∼25 % reduced sagittal knee and ankle kinetics (P ≤ 0.038) and ∼ 2.5× greater knee internal rotation (P < 0.0001) during landing/jumping, as well as ∼75 % and ∼ 20 % reduced ground reaction force during initial landing and jumping (P < 0.0001), respectively. Both groups with juvenile fibromyalgia syndrome, demonstrated 17-26 % reduced landing depth (P < 0.0001;d ≤ 1.79) and 26 % reduced jump height (P ≤ 0.01;d ≤ 0.86), indicating inefficient momentum absorption. INTERPRETATION Altered biomechanics observed in both groups with juvenile fibromyalgia syndrome may reflect an attempt to avoid pain. While hypermobility did not significantly differentiate the groups with juvenile fibromyalgia syndrome overall, it was associated with more inefficiencies. This study highlights the need for hypermobility-specific movement assessments to understand movement-associated pain, strength, and kinesthetics to improve early identification and treatment of youth with hypermobility at risk for chronic pain and functional limitations.
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Affiliation(s)
- Tessa C Hulburt
- Emory Sports Performance and Research Center (SPARC), Flowery Branch, GA, USA; Emory Sports Medicine Center, Atlanta, GA, USA; Department of Orthopaedics, Emory University School of Medicine, Atlanta, GA, USA; Health Services Research Center, Emory University School of Medicine, Atlanta, GA, USA.
| | - William R Black
- Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA
| | - Scott Bonnette
- Division of Sports Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA
| | - Staci Thomas
- Division of Sports Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA
| | - Andrew Schille
- Emory Sports Performance and Research Center (SPARC), Flowery Branch, GA, USA; Emory Sports Medicine Center, Atlanta, GA, USA; Department of Orthopaedics, Emory University School of Medicine, Atlanta, GA, USA
| | | | - Matthew S Briggs
- Sports Medicine Research Institute, School of Health and Rehabilitation Sciences, and Department of Orthopaedics, The Ohio State University Wexner Medical Center, Columbus, OH, USA
| | - Sylvia Ounpuu
- Center for Motion Analysis, Connecticut Children's Medical Center, Department of Orthopedic Surgery, University of Connecticut School of Medicine, Farmington, CT, USA
| | - Susmita Kashikar-Zuck
- Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA; Division of Behavioral Medicine and Clinical Psychology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA
| | - Greg D Myer
- Emory Sports Performance and Research Center (SPARC), Flowery Branch, GA, USA; Emory Sports Medicine Center, Atlanta, GA, USA; Department of Orthopaedics, Emory University School of Medicine, Atlanta, GA, USA; Wallace H. Coulter Department of Biomedical Engineering, Georgia Institute of Technology, Atlanta, GA, USA; Youth Physical Development Centre, Cardiff Metropolitan University, Wales, UK; The Micheli Center for Sports Injury Prevention, Waltham, MA, USA
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Dickinson M, Erridge S, Warner‐Levy J, Clarke E, McLachlan K, Coomber R, Holden W, Rucker JJ, Platt MW, Sodergren MH. UK Medical Cannabis Registry: An Analysis of Outcomes of Medical Cannabis Therapy for Hypermobility-Associated Chronic Pain. ACR Open Rheumatol 2025; 7:e70024. [PMID: 40079426 PMCID: PMC11905011 DOI: 10.1002/acr2.70024] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/12/2024] [Revised: 02/07/2025] [Accepted: 02/14/2025] [Indexed: 03/15/2025] Open
Abstract
OBJECTIVE The study aims to evaluate the clinical outcomes in patients with hypermobility spectrum disorder (HSD) and hypermobile Ehlers-Danlos syndrome (hEDS) with chronic pain following treatment with cannabis-based medicinal products (CBMPs). METHODS This was a case series conducted with the UK Medical Cannabis Registry. The primary outcomes were changes in the following validated patient-reported outcome measures at 1, 3, 6, 12, and 18 months compared with baseline: Short-Form McGill Pain Questionnaire 2 (SF-MPQ-2), pain visual analog scale score (Pain-VAS), Brief Pain Inventory (BPI), five-level EQ-5D (EQ-5D-5L), Single-Item Sleep Quality Scale (SQS), General Anxiety Disorder Seven-Item Scale (GAD-7), and Patient Global Impression of Change. The incidence of adverse events was analyzed as secondary outcomes. Statistical significance was defined as P <0.050. RESULTS A total of 161 patients met inclusion criteria. Improvements were observed in BPI severity and interference subscales, SF-MPQ-2, and Pain-VAS (P < 0.001). Changes were also seen in the EQ-5D-5L index value, SQS, and GAD-7 (P < 0.001). A total of 50 patients (31.06%) reported one or more adverse event with a total incidence of 601 (373.29%). The most frequent rating for adverse events was moderate (n = 258; 160.25%), with headache being the most common (n = 44; 27.33%). CONCLUSION An association was identified between patients with HSD/hEDS with chronic pain and improvements in pain-specific and general health-related quality of life following the commencement of CBMPs. CBMPs were also well tolerated at 18 months. These findings must be interpreted within the context of the limitations of study design but add further weight to calls for randomized controlled trials.
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Affiliation(s)
- Mary Dickinson
- Medical Cannabis Research Group, Imperial College LondonLondonUnited Kingdom
| | - Simon Erridge
- Medical Cannabis Research Group, Imperial College London, and Curaleaf ClinicLondonUnited Kingdom
| | - John Warner‐Levy
- Medical Cannabis Research Group, Imperial College LondonLondonUnited Kingdom
| | | | | | - Ross Coomber
- Curaleaf Clinic and St. George's Hospital NHS TrustLondonUnited Kingdom
| | | | - James J. Rucker
- Curaleaf Clinic, Kings College London, and South London & Maudsley NHS Foundation TrustLondonUnited Kingdom
| | | | - Mikael H. Sodergren
- Medical Cannabis Research Group, Imperial College London, and Curaleaf ClinicLondonUnited Kingdom
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Fuster E, Mirmosayyeb O, Blitshteyn S. Sexual dysfunction in women with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders: an online community-based study. Rheumatol Adv Pract 2025; 9:rkaf023. [PMID: 40177006 PMCID: PMC11964486 DOI: 10.1093/rap/rkaf023] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/25/2024] [Accepted: 02/16/2025] [Indexed: 04/05/2025] Open
Abstract
Objectives Hypermobility spectrum disorders (HSD) and hypermobile Ehlers-Danlos syndrome (h-EDS) are connective tissue disorders associated with joint hypermobility, pain, fatigue and autonomic dysfunction. We sought to assess sexual function in women with h-EDS/HSD. Methods In this cross-sectional community-based case-control study, women with h-EDS/HSD completed the following online questionnaires: Female Sexual Function Index (FSFI), 31-item Composite Autonomic Symptom Score (COMPASS-31), Beck Depression Inventory-II (BDI-II) and an additional short form with questions pertaining to comorbidities and sexual activity. Scores were compared with those of healthy female controls. Results A total of 84 women with h-EDS/HSD [mean age 37.1 years (s.d. 8.4)] and 75 healthy women [mean age 29.79 years (s.d. 5.38)] completed the questionnaires. Of these, 75% were diagnosed with h-EDS, 25% with HSD and 58% had concurrent postural orthostatic tachycardia syndrome. A majority of women with h-EDS/HSD (52%) did not engage in any sexual activity, and only 25% reported having sexual intercourse with a partner in the past 6 months. The mean COMPASS-31 score was 51.5 (s.d. 13.8), mean BDI-II score was 24.6 (s.d. 11.4) and mean FSFI score was 15.3 (s.d. 7.9) in the patient group. Compared with healthy controls, women with h-EDS/HSD had decreased FSFI scores in the subdomains of desire, arousal, lubrication, orgasm and sexual satisfaction. Neither BDI-II nor COMPASS-31 scores were predictive of the FSFI score. Conclusion Compared with healthy women, we found significant sexual dysfunction in women with h-EDS/HSD, which did not correlate with depressive or autonomic symptoms in this cohort. Given its health implications, sexual dysfunction represents a significant unmet need that calls for development of targeted diagnostic and therapeutic approaches in the care of women with h-EDS/HSD.
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Affiliation(s)
- Emily Fuster
- Department of Neurology, University of Buffalo Jacobs School of Medicine and Biomedical Sciences, Buffalo, NY, USA
| | - Omid Mirmosayyeb
- Department of Neurology, University of Buffalo Jacobs School of Medicine and Biomedical Sciences, Buffalo, NY, USA
| | - Svetlana Blitshteyn
- Department of Neurology, University of Buffalo Jacobs School of Medicine and Biomedical Sciences, Buffalo, NY, USA
- Dysautonomia Clinic, Williamsville, NY, USA
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Boucher L, Nestler B, Groepper D, Quillin J, Deyle D, Halverson CM. An evaluation of practices and policies used in genetics clinics across the United States to manage referrals for Ehlers-Danlos and hypermobility syndromes. GENETICS IN MEDICINE OPEN 2025; 3:101960. [PMID: 39996015 PMCID: PMC11849115 DOI: 10.1016/j.gimo.2024.101960] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Subscribe] [Scholar Register] [Received: 08/19/2024] [Revised: 12/26/2024] [Accepted: 12/27/2024] [Indexed: 02/26/2025]
Abstract
Purpose Hypermobile Ehlers-Danlos syndrome (hEDS) and joint hypermobility syndrome (JHS), among other conditions, comprise a collection of heritable disorders of connective tissue. There are recognized challenges in diagnosing JHS/hEDS. Despite a lack of identifiable molecular etiology for these conditions, referrals to medical geneticists for evaluation are commonplace, and they continue to rise. Because of an absence of nationally recognized referral guidelines for JHS/hEDS, health care institutions are left to develop their own policies. The purpose of our study was to characterize these ad hoc policies systematically and at a nationwide level. Methods We conducted a mixed-methods study of 71 board-eligible or board-certified genetic counselors, including 15 qualitative interviews. Results Cross-case analysis revealed multiple motivations for creating these policies, methods to more effectively manage referrals for hypermobility and concern for EDS, and participants' evaluations of the successes and shortcomings of these policies at their institutions. We found diverse and unstandardized policies that were meant to address numerous perceived challenges. This lack of standardization is a concern because it may result in inconsistent access to care for patients with JHS/hEDS and create barriers to diagnosis and treatment. Conclusion Our findings demonstrate that policies vary widely, and genetic counselors are concerned about the potential impact of this variability on the quality of care for patients with JHS/hEDS.
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Affiliation(s)
- Lauren Boucher
- Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN
| | - Berkley Nestler
- Department of Pediatrics, Virginia Commonwealth University, Richmond, VA
| | - Daniel Groepper
- Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, IL
| | - John Quillin
- Department of Pediatrics, Virginia Commonwealth University, Richmond, VA
| | - David Deyle
- Department of Clinical Genomics, Mayo Clinic, Rochester, MN
| | - Colin M.E. Halverson
- Center for Bioethics, Indiana University School of Medicine, Indianapolis, IN
- Department of Medicine, Indiana University School of Medicine, Indianapolis, IN
- Department of Anthropology, Indiana University, Indianapolis, IN
- Regenstrief Institute, Indianapolis, IN
- Charles Warren Fairbanks Center for Medical Ethics, Indianapolis, IN
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Hecht I, Nitzan I, Safir M. Myopia and systemic manifestation of tissue hyperlaxity: A population-based cross-sectional study. Clin Exp Ophthalmol 2025; 53:11-17. [PMID: 39377438 DOI: 10.1111/ceo.14450] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/31/2024] [Revised: 09/19/2024] [Accepted: 09/21/2024] [Indexed: 10/09/2024]
Abstract
BACKGROUND Whether non-syndromic connective tissue hyperlaxity is associated with myopia is unknown. The aim of this study was to examine the association between systemic signs of tissue hyperlaxity and myopia among adolescents. METHODS Included were adolescents assessed before mandatory military service at the age of 16-18 years between 2011 and 2022. Diagnoses of hernias, pes planus, genu varus, genu valgum, and scoliosis, as well as joint injuries were used as surrogate markers for tissue hyperlaxity. The prevalence of these events among adolescents with myopia was evaluated and compared to the non-myopic population. RESULTS Included were 920 806 adolescents. The mean age was 17.4 ± 1.4 years and 58.6% were men. Myopia was diagnosed in 290 759 adolescents (31.6%) and high myopia in 24 069 adolescents (2.6%). The prevalence of hernias was higher among adolescents with myopia, (2.76%, 95% confidence interval (95% CI): 2.69%-2.82% vs. 2.60%, 95% CI: 2.57%-2.65%), as were pes planus (14.92%, 95% CI: 14.79-15.05 vs. 13.51%, 95% CI: 13.42-13.59) and scoliosis (9.14%, 95% CI: 9.03-9.24 vs. 7.69%, 95%CI: 7.62-7.76). The prevalence of joint injuries was clinically similar between groups (less than 0.1% difference for ankle, shoulder, and knee injuries), as were genu varum and genu valgum (0.66%, 95%CI: 0.64%-0.69% vs. 0.68%, 95% CI: 0.66-0.70, respectively). Adjusted for possible confounders results remained consistent. CONCLUSIONS Among a large sample of Israeli adolescents, those with myopia had a higher prevalence of hernias, pes planus, and scoliosis. These results could suggest a propensity for systemic conditions related to tissue laxity among myopic adolescents.
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Affiliation(s)
- Idan Hecht
- Department of Ophthalmology, Shamir Medical Center (formerly Assaf-Harofeh), Be'er Ya'akov, Israel
- Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
| | - Itay Nitzan
- Department of Military Medicine, Faculty of Medicine, Hebrew University of Jerusalem, Israel
- Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
| | - Margarita Safir
- Department of Ophthalmology, Shamir Medical Center (formerly Assaf-Harofeh), Be'er Ya'akov, Israel
- Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
- Department of Military Medicine, Faculty of Medicine, Hebrew University of Jerusalem, Israel
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Desai MJ, Brestle M, Jonely H. Evidence for central sensitization as classified by the central sensitization inventory in patients with pain and hypermobility. Pain Pract 2025; 25:e13411. [PMID: 39192465 DOI: 10.1111/papr.13411] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 08/29/2024]
Abstract
INTRODUCTION Pain is a very common complaint among patients with hypermobile Ehlers-Danlos Syndrome (hEDS) and Hypermobility Spectrum Disorders (HSDs). Often challenging to treat, insights into the underpinnings of pain in this population have been fleeting. Central sensitization (CS) has been postulated as a potential etiological factor. METHODS In this retrospective study, 82 consecutive patients with hEDS/HSDs were reviewed. Demographic information and Central Sensitization Inventory (CSI) results were collected. RESULTS 71 of 82 (86.5%) patients demonstrated CS. Scores ranged from 12 to 94 with a median of 56. Pain scores as measured on the numerical rating scale (NRS) ranged from 2 to 10 with a mean and median of 6. CONCLUSION A large percentage of patients with pain and a diagnosis of hEDS/HSDs demonstrated evidence of central sensitization as measured using the CSI. The CSI is simple to administer. The CSI may provide clinical insights that are key to successfully managing patients with hEDS/HSDs. Further research is needed to explore the ability to classify pain phenotypes in this patient population and the impact on precision medicine.
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Affiliation(s)
- Mehul J Desai
- International Spine, Pain & Performance Center, Washington, District of Columbia, USA
- George Washington University, School of Medicine and Health Sciences, Washington, District of Columbia, USA
| | - Mason Brestle
- International Spine, Pain & Performance Center, Washington, District of Columbia, USA
- Philadelphia College of Osteopathic Medicine, Suwanee, Georgia, USA
| | - Holly Jonely
- International Spine, Pain & Performance Center, Washington, District of Columbia, USA
- The University of Oklahoma, College of Allied Health, Oklahoma City, Oklahoma, USA
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Barbosa C, Gavinha S, Soares T, Reis T, Manso C. Is Generalized Joint Hypermobility Associated with Chronic Painful Temporomandibular Disorders in Young Adults? A Cross-Sectional Study. J Clin Med 2024; 14:44. [PMID: 39797127 PMCID: PMC11721791 DOI: 10.3390/jcm14010044] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/16/2024] [Revised: 12/23/2024] [Accepted: 12/24/2024] [Indexed: 01/13/2025] Open
Abstract
Background/Objectives: Generalized joint hypermobility (GJH) is a common condition characterized by an increased range of motion across multiple joints. Previous studies have suggested a possible association between GJH and temporomandibular disorders (TMDs). This study aimed to assess the prevalence of GJH in a Portuguese population of young university adults and to explore the relationship between GJH, temporomandibular joint (TMJ) symptoms/clinical findings, chronic painful TMDs, and chronic painful TMDs subtypes (myalgia, arthralgia, or combined myalgia and arthralgia). Methods: A cross-sectional study was carried out in Oporto university institutions, involving 1249 students (18-25 years). GJH was assessed using the Beighton score cut-off ≥ 4. TMJ symptoms and clinical findings were collected using the Research Diagnostic Criteria for TMD protocol, as well as TMD diagnoses. Univariate and multivariate analyses were carried out to examine the associations between GJH and the variables of interest. Results: The overall prevalence of GJH was 41.9%, with females exhibiting a significantly higher likelihood of GJH (p < 0.001). A statistically significant association was found between GJH and TMJ clicking (p < 0.05). Although no overall association was found between GJH and chronic painful TMDs, GJH was significantly associated with the combined diagnosis of myalgia and arthralgia (p < 0.05). Conclusions: The results suggest that GJH may be associated with the more complex subtypes of chronic painful TMDs. However, due to the small size effect of this association, future longitudinal studies with large samples using GJH broader diagnostic criteria are essential to elucidate the relationship between GJH and painful TMDs in asymptomatic nonsyndromic joint hypermobility populations.
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Affiliation(s)
- Cláudia Barbosa
- FP-I3ID, Faculty of Health Sciences, University Fernando Pessoa, 4200-150 Porto, Portugal; (S.G.); (T.S.); (T.R.); (C.M.)
- RISE-Health, University Fernando Pessoa, 4200-150 Porto, Portugal
| | - Sandra Gavinha
- FP-I3ID, Faculty of Health Sciences, University Fernando Pessoa, 4200-150 Porto, Portugal; (S.G.); (T.S.); (T.R.); (C.M.)
- RISE-Health, University Fernando Pessoa, 4200-150 Porto, Portugal
| | - Tânia Soares
- FP-I3ID, Faculty of Health Sciences, University Fernando Pessoa, 4200-150 Porto, Portugal; (S.G.); (T.S.); (T.R.); (C.M.)
| | - Tiago Reis
- FP-I3ID, Faculty of Health Sciences, University Fernando Pessoa, 4200-150 Porto, Portugal; (S.G.); (T.S.); (T.R.); (C.M.)
- CDRSP, Polytechnic Institute of Leiria, 2430-028 Marinha Grande, Portugal
| | - Conceição Manso
- FP-I3ID, Faculty of Health Sciences, University Fernando Pessoa, 4200-150 Porto, Portugal; (S.G.); (T.S.); (T.R.); (C.M.)
- RISE-Health, University Fernando Pessoa, 4200-150 Porto, Portugal
- LAQV-REQUIMTE, University of Porto, 4051-401 Porto, Portugal
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12
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Zwiegelaar S, Abraham DR, Roman O, Welman KE. A Multidisciplinary Approach to Hypermobility Spectrum Disorder, Raynaud's Phenomenon, and Biomechanical Soft Tissue Injuries in an Adolescent Boy: A Case Report. Clin Case Rep 2024; 12:e9678. [PMID: 39664736 PMCID: PMC11631715 DOI: 10.1002/ccr3.9678] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/22/2024] [Accepted: 11/11/2024] [Indexed: 12/13/2024] Open
Abstract
A 16-year-old male with hypermobility spectrum disorder (HSD) and Raynaud's phenomenon (RP) was referred to a clinical exercise physiologist (CEP) by their pediatric rheumatologist. The patient presented with arthralgia in the left knee and shoulder. Specifically, the left knee presented discomfort during activities of daily living (ADL), and the left shoulder had a reduced range of motion resulting from pain. Finally, complaints of painful fingers were also significant due to increased RP flare-ups during winter. A posture analysis was conducted, indicating relatively poor posture. Range of motion and manual muscle testing were suboptimal in the shoulders, but optimal in the knees and hips. The Kendal test, patella compression test, and Clarke's sign were conducted due to knee pain. Functional tests included a pelvic bridge, squat, Neer's test, and wall push-up. Finally, the modified pediatric clinical test of sensory interaction in balance (mPCTSIB) was completed to determine the interaction between balance systems. Analysis of all the tests conducted above confirmed the diagnosis of HSD and also indicated scapula dyskinesia, supraspinatus impingement, and patellofemoral pain syndrome. Consequently, the CEP treatment focused on strengthening the foot, knee, and hip kinetic chain, as a 12-week home program, along with hand exercises as needed to aid in the pain and stiffness experienced during RP flare-ups. The physiotherapist treatment was more hands on in the use of myofascial release, electrotherapy, taping, and posture correction of the neck and shoulder over four in-house visits. Finally, a 6-month follow-up was conducted by the CEP, in which the patient showed improvement with a pain-free range of motion and the ability to optimally conduct ADLs.
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Affiliation(s)
- Su‐ané Zwiegelaar
- Division of Movement Science and Exercise Therapy, Department of Sport Science, Faculty of Medicine and Health SciencesStellenbosch UniversityStellenboschSouth Africa
- The Movement Laboratory, Sport Science Department, Faculty of Medicine and Health SciencesStellenbosch UniversityStellenboschSouth Africa
| | - Deepthi R. Abraham
- Department of Pediatrics and Child Health, Faculty of Medicine and Health SciencesStellenbosch UniversityTygerberg, Cape TownSouth Africa
| | - Olivia Roman
- Olivia Roman PhysiotherapistsKuilsriverWestern CapeSouth Africa
| | - Karen E. Welman
- Division of Movement Science and Exercise Therapy, Department of Sport Science, Faculty of Medicine and Health SciencesStellenbosch UniversityStellenboschSouth Africa
- The Movement Laboratory, Sport Science Department, Faculty of Medicine and Health SciencesStellenbosch UniversityStellenboschSouth Africa
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13
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Baird AM, Aday AW, Kim ESH. Ambulatory care of patients with arteriopathies: Overview for vascular medicine advanced practice providers. JOURNAL OF VASCULAR NURSING 2024; 42:219-227. [PMID: 39645382 DOI: 10.1016/j.jvn.2024.05.001] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/10/2024] [Revised: 05/05/2024] [Accepted: 05/13/2024] [Indexed: 12/09/2024]
Abstract
Arteriopathies are a group of vascular disorders that encompass arterial dissection, aneurysm, and tortuosity that may or may not have an identifiable cause. Given the varied clinical presentations and underlying disorders of patients with arteriopathies, clinicians must develop a wide range of tools to care for these patients, including a focused history, physical examination, diagnostic imaging, medical and surgical therapies, genetic testing, and education. The vascular medicine clinic is one setting that can provide comprehensive care for this patient population, and vascular medicine advanced practice providers (APPs) are essential in this setting. In this article, we summarize a clinical framework for vascular medicine APPs caring for this patient population and provide clinical pearls for a variety of arteriopathies.
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Affiliation(s)
- Alexandra Moran Baird
- HCA Healthcare, Cardiac and Vascular Service Line, Nashville, TN, United States of America; Vanderbilt University School of Nursing, Nashville, TN, United States of America.
| | - Aaron W Aday
- Vascular Medicine Section, Division of Cardiovascular Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, United States of America; Vanderbilt Translational and Clinical Cardiovascular Research Center, Division of Cardiovascular Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, United States of America
| | - Esther S H Kim
- Sanger Heart and Vascular Institute, Atrium Health, Charlotte, NC, United States of America
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14
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Kapitán M, Jouklová N, Machač S, Hodačová L, Čermáková E, Schmidt J. Changes in spinal curve during dentistry studies measured with a Spinal Mouse device: A five-year prospective study. EUROPEAN JOURNAL OF DENTAL EDUCATION : OFFICIAL JOURNAL OF THE ASSOCIATION FOR DENTAL EDUCATION IN EUROPE 2024; 28:913-922. [PMID: 39030855 DOI: 10.1111/eje.13026] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 08/27/2023] [Revised: 05/29/2024] [Accepted: 07/07/2024] [Indexed: 07/22/2024]
Abstract
INTRODUCTION Musculoskeletal disorders (MSDs) often arise and develop during dentistry studies. The most affected regions are related to the spine. Possible associations between spinal curve parameters and MSDs have not yet been investigated amongst dentistry students. This longitudinal observational study aimed to determine whether spinal curve changes during dentistry studies, analyse the relationship between objective findings and subjectively declared MSDs and compare spinal curve parameters with those published in the literature. MATERIALS AND METHODS Seventy-three dentistry students answered a questionnaire on MSDs, and were examined using the Spinal Mouse® device at the beginning, in the middle, and at the end of their 5-year study. RESULTS The spinal curve exhibited a gender diversity in the lumbar lordosis angle, sacrum inclination, and thoracolumbar ratio. From the first to fifth study year, we observed an increase in the range of motions in the sagittal and frontal planes, an increase in the maximal extent of right lateral inclination, and a decrease in maximal left lateral inclination. Whole-spine backward inclination increased only in women, and forward sacral inclination decreased. No statistically significant relationships were found between the objective findings and subjectively declared MSDs. CONCLUSIONS The spinal curve shape differed between men and women and changed during dentistry studies. No objective markers or predictors of MSDs were found amongst the dentistry students. These findings can serve as a benchmark for further studies on the association between MSDs and objective findings.
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Affiliation(s)
- Martin Kapitán
- Department of Dentistry, Faculty of Medicine in Hradec Králové, Charles University, Hradec Králové, Czech Republic
- Department of Dentistry, University Hospital Hradec Králové, Hradec Králové, Czech Republic
| | - Nela Jouklová
- Department of Dentistry, Faculty of Medicine in Hradec Králové, Charles University, Hradec Králové, Czech Republic
- Department of Dentistry, University Hospital Hradec Králové, Hradec Králové, Czech Republic
| | - Stanislav Machač
- Department of Rehabilitation and Sports Medicine, Second Faculty of Medicine, Charles University, Prague, Czech Republic
- Department of Rehabilitation and Sports Medicine, University Hospital Motol, Prague, Czech Republic
- Institute of Sports Medicine, Prague, Czech Republic
| | - Lenka Hodačová
- Department of Preventive Medicine, Faculty of Medicine in Hradec Králové, Charles University, Hradec Králové, Czech Republic
| | - Eva Čermáková
- Department of Medical Biophysics, Faculty of Medicine in Hradec Králové, Charles University, Hradec Králové, Czech Republic
| | - Jan Schmidt
- Department of Dentistry, Faculty of Medicine in Hradec Králové, Charles University, Hradec Králové, Czech Republic
- Department of Dentistry, University Hospital Hradec Králové, Hradec Králové, Czech Republic
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15
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Kozyra M, Kostyun R, Strecker S. The prevalence of multisystem diagnoses among young patients with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder: A retrospective analysis using a large healthcare claims database. Medicine (Baltimore) 2024; 103:e39212. [PMID: 39465806 PMCID: PMC11479467 DOI: 10.1097/md.0000000000039212] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/04/2024] [Accepted: 07/17/2024] [Indexed: 10/29/2024] Open
Abstract
Clinical features of hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility syndrome (HMS) have classically focused on dysfunctions related to the musculoskeletal system. A growing body of literature suggests substantial multisystemic involvement, although this has not been recapitulated in a pediatric/young adult population. Leveraging a large United States healthcare claim database illuminates multisystem disorders among patients diagnosed with hEDS and HMS in the age range of 10 to 24. This was a retrospective review of patient records within the de-identified healthcare claims database, PearlDiver. Patients with a diagnosis of hEDS or HMS, and those without these diagnoses who were seen for their annual physical examination, between the ages of 10 and 24, were queried for the presence of additional medical conditions. Descriptive statistics were used to define the frequency of multisystem diagnoses. Nineteen thousand seven hundred ninety hEDS patients, 17,509 HMS patients, and 4,959,713 patients from the general population were analyzed. Within 2 years following hEDS or HMS diagnosis, digestive disorders were the most prevalent diagnosis, followed by cardiovascular conditions. Digestive disorders occurred in 54.6% of patients with hEDS and 41.6% of patients with HMS, compared to 28.5% of the general population. Cardiovascular disorders occurred in 43.6% of patients with hEDS and 21.8% of patients with HMS compared to 10.3% of the general population. Anxiety, respiratory disorders, and developmental disorders occurred in approximately 25% of the hEDS group and 20% of the HMS group, compared to ~15% of the general population, all statistically significantly higher in the hEDS and HMS groups. This study highlights multisystem diagnoses within the pediatric hEDS/HMS populations. hEDS patients had higher rates of multisystem diagnoses compared to HMS patients. These results suggest a high multisystem disease burden for young hEDS/HMS patients. Future research is needed to understand the timing and presentation of clinical symptoms for this population.
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Affiliation(s)
- Monika Kozyra
- Bone and Joint Institute, Hartford Hospital, Hartford, CT
- University of Connecticut, Farmington, CT
| | - Regina Kostyun
- Bone and Joint Institute, Hartford Hospital, Hartford, CT
| | - Sara Strecker
- Bone and Joint Institute, Hartford Hospital, Hartford, CT
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16
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Ganesh R, Munipalli B. Long COVID and hypermobility spectrum disorders have shared pathophysiology. Front Neurol 2024; 15:1455498. [PMID: 39301475 PMCID: PMC11410636 DOI: 10.3389/fneur.2024.1455498] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/27/2024] [Accepted: 08/02/2024] [Indexed: 09/22/2024] Open
Abstract
Hypermobility spectrum disorders (HSD) and hypermobile Ehlers-Danlos syndrome (hEDS) are the most common joint hypermobility conditions encountered by physicians, with hypermobile and classical EDS accounting for >90% of all cases. Hypermobility has been detected in up to 30-57% of patients with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS), fibromyalgia, postural orthostatic tachycardia syndrome (POTS), and long COVID (LC) compared to the general population. Extrapulmonary symptoms, including musculoskeletal pain, dysautonomia disorders, cognitive disorders, and fatigue, are seen in both LC and HSD. Additionally, ME/CFS has overlapping symptoms with those seen in HSD. Mast cell activation and degranulation occurring in both LC and ME/CFS may result in hyperinflammation and damage to connective tissue in these patients, thereby inducing hypermobility. Persistent inflammation may result in the development or worsening of HSD. Hence, screening for hypermobility and other related conditions including fibromyalgia, POTS, ME/CFS, chronic pain conditions, joint pain, and myalgia is essential for individuals experiencing LC. Pharmacological treatments should be symptom-focused and geared to a patient's presentation. Paced exercise, massage, yoga, and meditation may also provide benefits.
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Affiliation(s)
- Ravindra Ganesh
- Division of General Internal Medicine, Mayo Clinic, Rochester, MN, United States
| | - Bala Munipalli
- Division of General Internal Medicine, Mayo Clinic, Jacksonville, FL, United States
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17
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Hershkovich O, Gordon B, Derazne E, Tzur D, Afek A, Lotan R. Hypermobility Among Adolescents and the Association With Spinal Deformities: A Large Cross-Sectional Study. J Am Acad Orthop Surg Glob Res Rev 2024; 8:01979360-202407000-00007. [PMID: 38996221 PMCID: PMC11239161 DOI: 10.5435/jaaosglobal-d-24-00047] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/02/2024] [Accepted: 04/24/2024] [Indexed: 07/14/2024]
Abstract
INTRODUCTION Adolescent idiopathic scoliosis and Scheuermann kyphosis are common spinal deformities (SD) among adolescents. The potential link between hypermobility and SD is a topic of debate. We aimed to investigate the prevalence of hypermobility and its association with SD. METHODS A cross-sectional analysis of records of 17-year-old subjects who were recruited into mandatory military service was conducted. Study population comprised 1,220,073 subjects. Prevalence rates were calculated for hypermobility and different categories of SD by severity, studying the strength of the association between hypermobility and SD. RESULTS Of 1,220,073 subjects, 0.0111% exhibited hypermobility. Spinal deformities were identified in 10.5% of subjects. Specifically, 7.9% had mild SD, 2.4% had moderate SD, and 0.1% had severe SD. The overall association between hypermobility and SD showed an odds ratio of 2.31 (P < 0.001). Subgroup analyses revealed ORs of 1.226 (P = 0.041) for mild deformities, 5.783 (P < 0.001) for moderate deformities, and 4.01 (P = 0.002) for severe deformities. The association was stronger for moderate and severe SD. CONCLUSIONS This study establishes a notable association between hypermobility and SD among adolescents. The findings highlight the importance of understanding this relationship, which could contribute to advancements in comprehending SD development. Additional research is warranted to expand upon these findings.
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Affiliation(s)
- Oded Hershkovich
- From the Department of Orthopedic Surgery, Wolfson Medical Center, Holon, Israel (Dr. Hershkovich and Dr. Lotan); the Medical Corps, Israeli Defense Forces, Israel (Dr. Gordon, Derazne, and Tzur); the Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel (Dr. Hershkovich, Dr. Afek, and Dr. Lotan); and the Chaim Sheba Medical Center, Tel Hashomer, Israel (Dr. Afek)
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18
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Jeong HJ, Tarima S, Nguyen A, Qashqai A, Muriello M, Basel D, Slavens BA. Lower extremity inter-joint coupling angles and variability during gait in pediatric hypermobility spectrum disorder. J Biomech 2024; 170:112151. [PMID: 38851094 DOI: 10.1016/j.jbiomech.2024.112151] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/28/2023] [Revised: 05/02/2024] [Accepted: 05/13/2024] [Indexed: 06/10/2024]
Abstract
Complex musculoskeletal complications in children with hypermobility spectrum disorder (HSD) include pain, proprioception deficits, and joint instability, which may result in movement dysfunction during walking. However, no studies have explored the inter-joint coordination deficits in children with HSD. The purpose of this study was to determine the lower extremity inter-joint coupling angles, patterns, and variability during walking in children with HSD compared to children without HSD (non-HSD). Ankle, knee, and hip kinematics during the stance phase of walking in 18 children with HSD and 18 children without HSD were measured using three-dimensional motion analysis. Coupling angles, patterns, and variability of hip-knee, hip-ankle, and knee-ankle were quantified in the sagittal, frontal, and transverse planes using vector coding techniques. Statistical modeling of coupling angles on sine and cosine scales and bootstrapped standard errors were used to compare coupling angles between HSD and non-HSD groups. Permutational multivariate analysis of variance and statistical non-parametric mapping two-sample t-tests were used to compare the coupling patterns and variability between HSD and non-HSD groups, respectively. Our results indicated that coupling angles, patterns, and variability were not significantly different between the groups. These findings suggest that lower extremity inter-joint coordination and its variability during walking might not be a promising area for further research or intervention in children with HSD. Further research could use other biomechanical methods to investigate coordination deficits in pediatric patients with HSD, and how aging and disease progression are associated with coordination deficits in individuals with HSD.
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Affiliation(s)
- Hyo-Jung Jeong
- Orthopaedic and Rehabilitation Engineering Center, Marquette University, Milwaukee, WI, USA; Department of Rehabilitation Sciences & Technology, University of Wisconsin-Milwaukee, Milwaukee, WI, USA; Program in Physical Therapy, Washington University School of Medicine in St. Louis, St. Louis, MO, USA.
| | - Sergey Tarima
- Institute for Health & Equity, Division of Biostatistics, Medical College of Wisconsin, Milwaukee, WI, USA
| | - Anthony Nguyen
- Department of Mechanical Engineering, University of Wisconsin-Milwaukee, Milwaukee, WI, USA
| | - Anahita Qashqai
- Department of Rehabilitation Sciences & Technology, University of Wisconsin-Milwaukee, Milwaukee, WI, USA
| | - Michael Muriello
- Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA
| | - Donald Basel
- Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA
| | - Brooke A Slavens
- Department of Rehabilitation Sciences & Technology, University of Wisconsin-Milwaukee, Milwaukee, WI, USA; Department of Mechanical Engineering, University of Wisconsin-Milwaukee, Milwaukee, WI, USA
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Aukštuolytė-Bačienė E, Daunoravičienė A, Tamulionytė V, Berškienė K, Narbutaitė J, Razon S, Slapšinskaitė-Dackevičienė A. Present but Ignored: Physical Condition and Health-Related Quality of Life in College-Aged Females with Generalized Joint Hypermobility. Healthcare (Basel) 2024; 12:1065. [PMID: 38891140 PMCID: PMC11171803 DOI: 10.3390/healthcare12111065] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/16/2024] [Revised: 05/19/2024] [Accepted: 05/20/2024] [Indexed: 06/21/2024] Open
Abstract
BACKGROUND Generalized joint hypermobility (GJH) is prevalent among young adults, necessitating effective monitoring of musculoskeletal health, particularly among college-aged females. This study aimed to identify physical fitness and health-related quality of life (HR-QoL) characteristics associated with GJH. METHODS A total of 67 participants were assessed: 26 with GJH (mean age 20.06, SD 1.2 years), and 41 without (mean age 20.15, SD 2.2 years). Assessments included hypermobility, anthropometric data, foot posture, balance, flexibility, strength, and HR-QoL. We used the Mann-Whitney test for two independent samples, categorical variables were analyzed with Cramer's V test. The results indicated that participants with GJH exhibited inferior balance and back muscle static strength endurance but greater flexibility compared to those without GJH. Significant differences were observed in foot posture. However, handgrip strength, explosive strength, and abdominal muscle static strength endurance did not differ significantly between groups. No significant differences were observed in HR-QoL components between the two groups. In conclusion, there appears to be a link between GJH and increased flexibility, impaired balance, reduced back muscle static strength endurance, and altered posture of both feet.
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Affiliation(s)
- Ernesta Aukštuolytė-Bačienė
- Department of Sports Medicine, Faculty of Nursing, Lithuanian University of Health Sciences, 47181 Kaunas, Lithuania; (E.A.-B.); (A.D.); (V.T.); (K.B.); (J.N.)
| | - Algė Daunoravičienė
- Department of Sports Medicine, Faculty of Nursing, Lithuanian University of Health Sciences, 47181 Kaunas, Lithuania; (E.A.-B.); (A.D.); (V.T.); (K.B.); (J.N.)
| | - Vilma Tamulionytė
- Department of Sports Medicine, Faculty of Nursing, Lithuanian University of Health Sciences, 47181 Kaunas, Lithuania; (E.A.-B.); (A.D.); (V.T.); (K.B.); (J.N.)
| | - Kristina Berškienė
- Department of Sports Medicine, Faculty of Nursing, Lithuanian University of Health Sciences, 47181 Kaunas, Lithuania; (E.A.-B.); (A.D.); (V.T.); (K.B.); (J.N.)
| | - Jurgita Narbutaitė
- Department of Sports Medicine, Faculty of Nursing, Lithuanian University of Health Sciences, 47181 Kaunas, Lithuania; (E.A.-B.); (A.D.); (V.T.); (K.B.); (J.N.)
| | - Selen Razon
- Department of Kinesiology, College of Health Sciences, West Chester University of Pennsylvania, West Chester, PA 19383, USA;
| | - Agnė Slapšinskaitė-Dackevičienė
- Department of Sports Medicine, Faculty of Nursing, Lithuanian University of Health Sciences, 47181 Kaunas, Lithuania; (E.A.-B.); (A.D.); (V.T.); (K.B.); (J.N.)
- Health Research Institute, Lithuanian University of Health Sciences, 47181 Kaunas, Lithuania
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20
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Garreth Brittain M, Flanagan S, Foreman L, Teran-Wodzinski P. Physical therapy interventions in generalized hypermobility spectrum disorder and hypermobile Ehlers-Danlos syndrome: a scoping review. Disabil Rehabil 2024; 46:1936-1953. [PMID: 37231592 DOI: 10.1080/09638288.2023.2216028] [Citation(s) in RCA: 11] [Impact Index Per Article: 11.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/18/2022] [Accepted: 05/13/2023] [Indexed: 05/27/2023]
Abstract
PURPOSE Physical therapy (PT) plays a central role in treating individuals with Generalized Hypermobility Spectrum Disorder (G-HSD) and Hypermobile Ehlers-Danlos Syndrome (hEDS). However, there is limited research describing these individuals' PT management. This review aims to systematically map the evidence on PT interventions to treat this patient population. METHODS A systematic literature search of PubMed, CINAHL, and Embase from January 2000 to April 2023 was performed. After the screening process, studies were appraised and classified based on the type of PT interventions used. Five reviewers independently assessed the articles. RESULTS The search produced 757 articles. Twenty-eight met the inclusion criteria. The studies included 630 participants, mostly female, with a mean age of 26.2 (ranging from 2 to 69). The PT interventions used were therapeutic exercise, patient instruction, motor function training, adaptive equipment, manual therapy, and functional training. CONCLUSIONS The evidence indicates that therapeutic exercise and motor function training are efficacious methods to treat individuals with G-HSD and hEDS. There is also weak evidence for using adaptive equipment, patient instruction, manual therapy, and functional training. Recent studies emphasize multidisciplinary care and understanding of the psychological impact of G-HSD/hEDS. Additional research is needed to determine the effectiveness and dosage of PT interventions.
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Affiliation(s)
- Mackenzie Garreth Brittain
- School of Physical Therapy and Rehabilitation Sciences, Morsani College of Medicine, University of South Florida, Tampa, FL, USA
| | - Sarah Flanagan
- School of Physical Therapy and Rehabilitation Sciences, Morsani College of Medicine, University of South Florida, Tampa, FL, USA
| | - Lindsey Foreman
- School of Physical Therapy and Rehabilitation Sciences, Morsani College of Medicine, University of South Florida, Tampa, FL, USA
| | - Patricia Teran-Wodzinski
- School of Physical Therapy and Rehabilitation Sciences, Morsani College of Medicine, University of South Florida, Tampa, FL, USA
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21
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Pliego-Arreaga R, Cervantes-Montelongo JA, Silva-Martínez GA, Tristán-Flores FE, Pantoja-Hernández MA, Maldonado-Coronado JR. Joint Hypermobility Syndrome and Membrane Proteins: A Comprehensive Review. Biomolecules 2024; 14:472. [PMID: 38672488 PMCID: PMC11048254 DOI: 10.3390/biom14040472] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/28/2024] [Revised: 04/03/2024] [Accepted: 04/09/2024] [Indexed: 04/28/2024] Open
Abstract
Ehlers-Danlos syndromes (EDSs) constitute a heterogeneous group of connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Asymptomatic EDSs, joint hypermobility without associated syndromes, EDSs, and hypermobility spectrum disorders are the commonest phenotypes associated with joint hypermobility. Joint hypermobility syndrome (JHS) is a connective tissue disorder characterized by extreme flexibility of the joints, along with pain and other symptoms. JHS can be a sign of a more serious underlying genetic condition, such as EDS, which affects the cartilage, bone, fat, and blood. The exact cause of JHS could be related to genetic changes in the proteins that add flexibility and strength to the joints, ligaments, and tendons, such as collagen. Membrane proteins are a class of proteins embedded in the cell membrane and play a crucial role in cell signaling, transport, and adhesion. Dysregulated membrane proteins have been implicated in a variety of diseases, including cancer, cardiovascular disease, and neurological disorders; recent studies have suggested that membrane proteins may also play a role in the pathogenesis of JHS. This article presents an exploration of the causative factors contributing to musculoskeletal pain in individuals with hypermobility, based on research findings. It aims to provide an understanding of JHS and its association with membrane proteins, addressing the clinical manifestations, pathogenesis, diagnosis, and management of JHS.
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Affiliation(s)
- Raquel Pliego-Arreaga
- Escuela de Medicina, Universidad de Celaya, Celaya 38080, Guanajuato, Mexico; (J.A.C.-M.); (M.A.P.-H.); (J.R.M.-C.)
| | - Juan Antonio Cervantes-Montelongo
- Escuela de Medicina, Universidad de Celaya, Celaya 38080, Guanajuato, Mexico; (J.A.C.-M.); (M.A.P.-H.); (J.R.M.-C.)
- Departamento de Ingeniería Bioquímica, Tecnológico Nacional de México en Celaya, Celaya 38010, Guanajuato, Mexico;
| | | | | | | | - Juan Raúl Maldonado-Coronado
- Escuela de Medicina, Universidad de Celaya, Celaya 38080, Guanajuato, Mexico; (J.A.C.-M.); (M.A.P.-H.); (J.R.M.-C.)
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22
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Bartlett ML, Sova D, Jain M. Hereditary Connective Tissue Diseases and Risk of Post-Acute SARS-CoV-2. Viruses 2024; 16:461. [PMID: 38543826 PMCID: PMC10974169 DOI: 10.3390/v16030461] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/06/2024] [Revised: 03/11/2024] [Accepted: 03/15/2024] [Indexed: 04/01/2024] Open
Abstract
We completed a retrospective review of data collected by the JH-CROWN consortium based on ICD10 codes for a hospitalized cohort. The severity and prevalence of COVID-19 and development of PASC within heritable connective tissue diseases were unknown; however, clinical observation suggested a thorough examination was necessary. We compared rates of disease severity, death, and PASC in connective tissue diseases versus the entire cohort as well as in diabetes and hypertension to determine if connective tissue disease was a risk factor. Of the 15,676 patients in the database, 63 (0.40%) had a connective tissue disease, which is elevated relative to the distribution in the population, suggesting a higher risk of severe disease. Within these 63 patients, 9.52% developed PASC compared to 2.54% in the entire cohort (p < 0.005). Elucidation of populations at high risk for severe disease and development of PASC is integral to improving treatment approaches. Further, no other study to date has examined the risk in those with connective tissue diseases and these data support a need for enhanced awareness among physicians, patients, and the community.
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Affiliation(s)
- Maggie L. Bartlett
- W. Harry Feinstone Department of Molecular Microbiology and Immunology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD 212051, USA
| | - Daniel Sova
- John Hopkins Medicine, Physical Medicine and Rehabilitation, Baltimore, MD 212052, USA
| | - Mahim Jain
- Bone Disorders Program, Kennedy Krieger Institute, Baltimore, MD 21205, USA;
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23
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Bornhöft L, Arvidsson D, Bergenheim A, Börjesson M, Fridolfsson J, Hellgren M, Nordeman L, Larsson ME. Development and feasibility of a function-based preventive intervention for lifestyle-related disorders. BMC Public Health 2024; 24:681. [PMID: 38438859 PMCID: PMC10910714 DOI: 10.1186/s12889-024-18017-8] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/11/2023] [Accepted: 02/06/2024] [Indexed: 03/06/2024] Open
Abstract
BACKGROUND The enormous effect of lifestyle-related disorders on health of the global population warrants the development of preventive interventions. Focusing on musculoskeletal health and physical activity may be a way to encourage necessary lifestyle changes by making them more concrete and understandable. The aims of the current study were to develop a function-based preventive intervention aimed at lifestyle-related disorders in physically inactive 40-year-old people and to investigate the feasibility of the intervention. The feasibility study aimed to solve practical and logistical challenges and to develop the intervention based on the experiences of participants and involved clinical personnel according to defined criteria. METHODS Development of the standardised functional examination was based on literature-validated tests and clinical reasoning. Development of a risk profile was based on the functional examination and similar profiles which have already proved feasible. The feasibility of the functional examination and risk profile, together with function-based lifestyle counselling was tested on 27 participants in a pilot study with two physiotherapist examinations over a four-month period. Practical results and feedback from participants and collaborating personnel were examined. RESULTS The functional examination consists of 20 established tests not requiring specialised equipment or training which were deemed relevant for a middle-aged population and a sub-maximal ergometer test. The risk profile consists of seven functional dimensions: cardiovascular fitness, strength in upper extremity, lower extremity and trunk, mobility, balance and posture, and three non-functional dimensions: weight, self-assessed physical activity and pain. Each dimension contains at least two measures. The participants appreciated the intervention and found it motivating for making lifestyle changes. They found the tests and risk profile understandable and could see them as tools to help achieve concrete goals. The examination required 60-75 min for one physiotherapist. The recruitment rate was low and recruited participants were highly motivated to making lifestyle changes. CONCLUSION This project developed a functional test battery and risk profile aimed at inactive 40-year-olds which fulfilled our feasibility criteria. Functional screening and lifestyle counselling were found to be of value to a sub-group of inactive 40-year-olds who were already motivated to improve their health situations. TRIAL REGISTRATION ClinicalTrials.gov: NCT05535296 first posted on 10/09/2022.
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Affiliation(s)
- Lena Bornhöft
- Research, Education, Development, Innovation and Implementation, Primary Health Care, .
- Unit of Physiotherapy, Department of Health and Rehabilitation, Institute of Neuroscience and Physiology, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden.
- Primary Care Rehabilitation, Närhälsan Torslanda Rehabilitation Clinic, Gothenburg, Region Västra Götaland, Sweden.
| | - Daniel Arvidsson
- Center for Health and Performance, Department of Food and Nutrition and Sport Science, Faculty of Education, University of Gothenburg, Gothenburg, Sweden
| | - Anna Bergenheim
- Research, Education, Development, Innovation and Implementation, Primary Health Care
- Unit of Physiotherapy, Department of Health and Rehabilitation, Institute of Neuroscience and Physiology, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden
| | - Mats Börjesson
- Department of Molecular and Clinical Medicine, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden
- Center for Lifestyle Intervention, Department of MGAÖ, Sahlgrenska University Hospital, Gothenburg, Region Västra Götaland, Sweden
| | - Jonatan Fridolfsson
- Center for Health and Performance, Department of Food and Nutrition and Sport Science, Faculty of Education, University of Gothenburg, Gothenburg, Sweden
| | - Margareta Hellgren
- General practice - Family medicine, School of Public Health and Community Medicine, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
- The Skaraborg Institute, Skövde, Sweden
| | - Lena Nordeman
- Research, Education, Development, Innovation and Implementation, Primary Health Care
- Unit of Physiotherapy, Department of Health and Rehabilitation, Institute of Neuroscience and Physiology, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden
| | - Maria Eh Larsson
- Research, Education, Development, Innovation and Implementation, Primary Health Care
- Unit of Physiotherapy, Department of Health and Rehabilitation, Institute of Neuroscience and Physiology, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden
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24
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Clark NL, Johnson M, Rangan A, Swainston K, Kottam L. Exploring the biopsychosocial impact of hypermobility spectrum disorders and Ehlers-Danlos syndrome in an adult population: a protocol for a scoping review. Syst Rev 2024; 13:27. [PMID: 38217042 PMCID: PMC10785370 DOI: 10.1186/s13643-024-02452-0] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/18/2022] [Accepted: 01/04/2024] [Indexed: 01/14/2024] Open
Abstract
BACKGROUND Conditions such as hypermobility spectrum disorders (HSD) and Ehlers-Danlos syndrome (EDS) are most often diagnosed when an individual has joint flexibility beyond the normal physiological limits. Additional characteristics and symptoms include pain and fatigue with individuals also being more likely to report feelings of anxiety and depression. Due to the varied presentation of these conditions, there is a lack of understanding amongst the various healthcare professionals (HCPs) individuals present to, leading to delayed diagnoses and negative experiences for the individuals themselves. This scoping review therefore aims to map the known biopsychosocial impact of adults with HSD and EDS. METHODS The scoping review will follow the six-step framework as outlined by Arskey and O'Malley and the Preferred Reporting Items for Systematic Reviews and Meta-Analyses for Scoping Reviews (PRISMA-ScR) checklist. The search will be conducted using the following databases: AMED, CINAHL, Cochrane Library, Embase, MEDLINE, PsycINFO, PubMed PEDro. Full-text published articles in the English language (excluding literature and systematic reviews) with adult samples (over the age of 18 years) and a diagnosis of a HSD or EDS, published between 2012 and 2022, will be included in the review. DISCUSSION This review will aim to explore the existing literature for the reported biopsychosocial impact of adults with a HSD or EDS. It will also aim to further acknowledge the gaps in understanding of the condition, how the condition and the impact of the condition is being measured and what HCPs are involved in supporting such individuals. These gaps will be used to inform a future systematic review. It is the overall goal to increase the knowledge of HCPs and the quality of life of adults living with a joint hypermobility condition.
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Affiliation(s)
- Natalie L Clark
- South Tees Hospitals NHS Foundation Trust, Middlesbrough, UK.
| | - Melissa Johnson
- South Tees Hospitals NHS Foundation Trust, Middlesbrough, UK
| | - Amar Rangan
- South Tees Hospitals NHS Foundation Trust, Middlesbrough, UK
- The Mary Kinross Trust & RCS Chair, Department of Health Sciences & Hull York Medical School, University of York, York, UK
| | | | - Lucksy Kottam
- South Tees Hospitals NHS Foundation Trust, Middlesbrough, UK
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25
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Mills DS, Coutts FM, McPeake KJ. Behavior Problems Associated with Pain and Paresthesia. Vet Clin North Am Small Anim Pract 2024; 54:55-69. [PMID: 37743157 DOI: 10.1016/j.cvsm.2023.08.007] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 09/26/2023]
Abstract
Pain is a subjective, aversive sensory and emotional experience and can cause or exacerbate problem behaviors. In this review, the biobehavioral model of pain is introduced and used to improve understanding by veterinarians of pain mechanisms and their relationship with problem behaviors. A range of potential indicators of discomfort are presented, illustrated by selected cases from the authors' behavior and pain referral clinics. Various myths exist around pain resulting in barriers to reporting assessment and treatment. Veterinarians should always consider discomfort in any case presenting with a problem behavior.
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Affiliation(s)
- Daniel S Mills
- Animal Behaviour Cognition and Welfare Group, Department of Life Sciences, University of Lincoln, Lincoln, UK.
| | - Fergus M Coutts
- Pain Management and Rehabilitation Centre, Broadleys Veterinary Hospital, Craigleith Road, Stirling FK7 7LE, UK
| | - Kevin J McPeake
- The Royal (Dick) School of Veterinary Studies, Easter Bush Campus, Midlothian EH25 9RG, UK
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26
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Chen K, Yang Y, Zhu D, Zhu Y, Lyu F, Jiang J, Xia X, Zheng C. Association of joint hypermobility with range of cervical motion and its impact on the motor unit loss in patients with Hirayama disease. Muscle Nerve 2023; 68:729-736. [PMID: 37638794 DOI: 10.1002/mus.27959] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/10/2023] [Revised: 08/04/2023] [Accepted: 08/07/2023] [Indexed: 08/29/2023]
Abstract
INTRODUCTION/AIMS Some patients with Hirayama disease (HD) may have generalized joint hypermobility (GJH), which may excessively increase cervical range of motion (ROM) and then worsen the HD. The purpose of this study was to identify the frequency of GJH in HD patients and to analyze the effect of GJH on cervical ROM and the severity of HD. METHODS The Beighton scoring system (≥4) was used to diagnose GJH in 84 HD patients. All patients underwent assessments of cervical-flexion/extension ROM; motor unit number estimation in bilateral abductor pollicis brevis (APB) muscles; handgrip strength; and the disabilities of the arm, shoulder, and hand assessments. RESULTS Concomitant GJH was identified in 20 (23.8%) HD patients. The HD patients with GJH exhibited greater cervical-flexion (P < .001) and cervical-extension (P = .033) ROM than those without GJH. Both greater single motor unit potential amplitudes (symptomatic side: P = .005; less-symptomatic side: P = .011) and lower motor unit numbers (symptomatic side: P = .008; less-symptomatic side: P = .013) in bilateral APB, along with lower compound muscle action potential amplitudes on the symptomatic-side APB (P = .039), were observed in patients with GJH than those without GJH. There was a mild negative correlation between motor unit number and cervical-flexion ROM in HD patients (symptomatic side: r = -0.239, P = .028; less-symptomatic side: r = -0.242, P = .027). DISCUSSION The frequency of GJH in HD patients may be higher than in the general population. Importantly, GJH may exacerbate excessive cervical-flexion ROM, thereby worsening motor unit loss in HD patients. A cautious approach should be taken when treating HD due to possible comorbid GJH.
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Affiliation(s)
- Kaiwen Chen
- Department of Orthopedics, Huashan Hospital, Fudan University, Shanghai, China
| | - Yang Yang
- Department of Radiology, Huashan Hospital, Fudan University, Shanghai, China
| | - Dongqing Zhu
- Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China
| | - Yu Zhu
- Department of Physical Medicine and Rehabilitation, Upstate Medical University, State University of New York at Syracuse, Syracuse, New York, USA
| | - Feizhou Lyu
- Department of Orthopedics, Huashan Hospital, Fudan University, Shanghai, China
- Department of Orthopedics, The Fifth People's Hospital, Fudan University, Shanghai, China
| | - Jianyuan Jiang
- Department of Orthopedics, Huashan Hospital, Fudan University, Shanghai, China
| | - Xinlei Xia
- Department of Orthopedics, Huashan Hospital, Fudan University, Shanghai, China
| | - Chaojun Zheng
- Department of Orthopedics, Huashan Hospital, Fudan University, Shanghai, China
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27
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Schöffl V, von Schroeder H, Lisse J, El-Sheikh Y, Küpper T, Klinder A, Lutter C. Wrist Injuries in Climbers. Am J Sports Med 2023; 51:3416-3425. [PMID: 37800447 DOI: 10.1177/03635465231199671] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 10/07/2023]
Abstract
BACKGROUND Acute and chronic injuries to the wrist are among the most common sport-related complaints of climbing athletes but have not been extensively evaluated in this population. Therefore, it is important to categorize climbing injuries to the wrist, analyze risk factors, and assess treatment outcomes. PURPOSE To evaluate the distribution, outcomes, and influencing factors of wrist injuries in climbers. STUDY DESIGN Case series; Level of evidence, 4. METHODS Climbing athletes with wrist injuries who presented to our specialized sports medical center over the course of 4 years (2017-2020) were selected. All had prospectively completed questionnaires including their climbing-specific background (years of training, climbing level, training methods, etc). Injuries were analyzed (International Climbing and Mountaineering Federation [UIAA] grade and diagnosis), and treatment methods and outcomes were retrospectively assessed with a minimum follow-up of 2 years. Parameters included the climbing score, visual analog scale for pain score, Patient-Rated Wrist Evaluation (PRWE) score, and shortened version of the Disabilities of the Arm, Shoulder and Hand (QuickDASH) score including the sport component (DASH-Sport) score before and after treatment as well as time to return to climbing. RESULTS A total of 69 patients (25 female, 44 male) with 78 wrist injuries were identified and analyzed. Of these, 7 injuries were bilateral, occurring at the same time, and 2 injuries were independent reinjuries to either the same or the contralateral side. In addition, 24 injuries (30.8%) were acute, while 54 (69.2%) were chronic. Overall, 2 injuries had a UIAA grade of 3; all others had a UIAA grade of 2. The most frequent injuries were synovitis of the ulnocarpal recess, ulnar impaction, bone marrow edema of the lunate, wrist sprains (joint capsular pain with stress, with no pathological finding on magnetic resonance imaging), and wrist ganglion cysts. Nonoperative treatment was performed for 61 of the injuries, while 17 were treated surgically. In 51 cases (65.4%), injuries healed without consequences; in 27 cases (34.6%), discomfort remained. The visual analog scale pain score decreased from 4.8 ± 1.9 before treatment to 0.7 ± 1.0 after treatment (P < .001), the PRWE score decreased from 53.6 ± 24.9 to 10.3 ± 13.1 (P < .001), the QuickDASH score improved from 53.0 ± 16.6 to 20.0 ± 20.2 (P < .001), and the DASH-Sport score improved from 82.0 ± 16.1 to 38.1 ± 23.5 (P < .001). The climbing score improved from 2.5 ± 1.1 to 4.3 ± 1.0 points (P < .001). The patient-reported number of days with pain was negatively correlated with changes in the PRWE score (r = -0.351; P < .001), QuickDASH score (r = -0.316; P = .007), and climbing score (r = -0.264; P = .025) as well as the number of days without climbing (r = -0.266; P = .025). The number of days without climbing was positively correlated with changes in the PRWE score (r = 0.369; P < .001). CONCLUSION Wrist injuries in climbers constituted a diverse set of diagnoses. Ulnar-sided injuries were most common, and many patients had >1 diagnosis. Outcomes for all treatment methods (surgery and nonoperative care) were favorable, but approximately one-third of climbers had persistent wrist discomfort after treatment, underscoring the need for accurate diagnoses and acute and expert care.
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Affiliation(s)
- Volker Schöffl
- Department of Orthopedic and Trauma Surgery, Klinikum Bamberg, Bamberg, Germany
- Department of Trauma Surgery, Friedrich Alexander University of Erlangen-Nuremberg, Erlangen, Germany
- Section of Wilderness Medicine, Department of Emergency Medicine, University of Colorado School of Medicine, Aurora, Colorado, USA
- School of Health, Leeds Beckett University, Leeds, UK
| | - Herb von Schroeder
- Division of Orthopaedic Surgery, Department of Surgery, University of Toronto, Toronto, Ontario, Canada
- Division of Plastic, Reconstructive & Aesthetic Surgery, Department of Surgery, University of Toronto, Toronto, Ontario, Canada
- Hand Program, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada
- Dovigi Orthopaedic Sports Medicine Clinic, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada
| | - Jens Lisse
- Department of Trauma Surgery, Klinikum Forchheim, Forchheim, Germany
| | - Yasser El-Sheikh
- Division of Plastic, Reconstructive & Aesthetic Surgery, Department of Surgery, University of Toronto, Toronto, Ontario, Canada
- Department of Surgery, North York General Hospital, University of Toronto, Toronto, Ontario, Canada
| | - Thomas Küpper
- Institute for Occupational, Social & Environmental Medicine, RWTH Aachen University, Aachen, Germany
| | - Annett Klinder
- Department of Orthopaedics, Rostock University Medical Center, Rostock, Germany
| | - Christoph Lutter
- Department of Orthopaedics, Rostock University Medical Center, Rostock, Germany
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28
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Teran-Wodzinski P, Kumar A. Clinical characteristics of patients with hypermobile type Ehlers-Danlos syndrome (hEDS) and generalized hypermobility spectrum disorders (G-HSD): an online survey. Rheumatol Int 2023; 43:1935-1945. [PMID: 37378685 DOI: 10.1007/s00296-023-05378-3] [Citation(s) in RCA: 10] [Impact Index Per Article: 5.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/23/2023] [Accepted: 06/17/2023] [Indexed: 06/29/2023]
Abstract
To examine the perspective of individuals with Hypermobile Ehlers-Danlos Syndrome (hEDS) and Generalized Hypermobility Spectrum Disorder (G-HSD), needed to help identify priorities and improve the lives of people living with these conditions. We conducted an online survey between November 2021 and January 2023. Participants were recruited through the Ehlers-Danlos Society's Research Surveys website. We obtained 483 responses and 396 were analyzed. 80% of the survey's respondents were individuals with hEDS, 90% were females, 30% were between 21 and 30, and 76% lived in North America, with 85% of the participants living in North America indicated being White or European American. Participants reported exercising from none to less than three times per week, with no physical therapy treatment. Ninety-eight percent of participants reported pain mainly at the neck (76%), lower (76%) and upper back (66%), knees (64%), shoulders (60%), and hips (60%). Approximately 80% of participants reported fatigue, joint hypermobility, joint instability, interference with daily activities, gastrointestinal problems, orthostatic hypotension, muscle weakness, and emotional distress. About 60% of respondents indicated walking issues, balance issues, and reduced joint proprioception. Nearly 40% of participants reported pelvic floor dysfunction and cardiovascular problems. Participants with hEDS and G-HSD reported pain on an average (SD) of 6.4 (± 1.3) and 5.9 (± 1.5) days in a typical week, respectively. People with hEDS and G-HSD desperately need more effective treatment options, a better diagnostic process, and education among health care providers.
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Affiliation(s)
- Patricia Teran-Wodzinski
- School of Physical Therapy and Rehabilitation Sciences, Morsani College of Medicine, University of South Florida, Tampa, FL, USA.
| | - Ambuj Kumar
- Department of Internal Medicine and Office of Research, Morsani College of Medicine, University of South Florida, Tampa, FL, USA
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29
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Safir M, Satanovsky A, Hecht I, Heller D, Einan-Lifshitz A, Pras E. The association between keratoconus and systemic manifestations of connective tissue hyperlaxity. Cont Lens Anterior Eye 2023; 46:101892. [PMID: 37479535 DOI: 10.1016/j.clae.2023.101892] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/03/2023] [Revised: 07/06/2023] [Accepted: 07/16/2023] [Indexed: 07/23/2023]
Abstract
PURPOSE To evaluate the correlation between keratoconus and systemic manifestations of tissue hyperlaxity in the general population. METHODS In this population based cross-sectional study 940,763 medical records of Israeli adolescents and young adults in military service were reviewed. Demographic and medical data were extracted. The prevalence of ligament injuries, habitual orthopedic deformities and umbilical/inguinal hernia was evaluated in cases with and without keratoconus. The association was tested using uni- and multivariant analyses. RESULTS Overall 938,411 adolescents and adults were included. Mean age was 17.55 ± 1.50 years, and 40.70% were female. Keratoconus was documented in 1,529 cases, with a prevalence of 0.16%. Compared to the general population, patients with keratoconus were significantly more likely to be diagnosed with genu varum/valgus (OR = 2.75, CI 1.48-5.13, p = 0.0015), pes planus (OR = 1.97, 95% CI: 1.62-2.38, p < 0.0001), scoliosis (OR = 1.88, 95% CI: 1.45-2.43, p < 0.0001) and umbilical/inguinal hernias (OR = 2.18, 95% CI: 1.47-3.24, p = 0.0001). On multivariate analysis the results remained significant (p < 0.05 for all). Joint injuries (ankle sprains, shoulder dislocation and injury to knee ligaments and menisci) were not significantly related to keratoconus (p > 0.05 for all). CONCLUSIONS In this large cohort of adolescents and young adults, an association was found between keratoconus and connective tissue hyperlaxity manifestations involving the knees, feet, spine and abdomen. These findings suggest that keratoconus might be a manifestation of a generalized connective tissue disorder, rather than just a local ocular phenomenon.
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Affiliation(s)
- Margarita Safir
- Ophthalmology Department, Shamir Medical Center, Zerifin, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Department of Military Medicine, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
| | - Alexandra Satanovsky
- Department of Orthopedic Surgery, Hadassah Hebrew University Hospital, Jerusalem, Israel
| | - Idan Hecht
- Ophthalmology Department, Shamir Medical Center, Zerifin, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
| | - Dan Heller
- Department of Military Medicine, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel
| | - Adi Einan-Lifshitz
- Ophthalmology Department, Shamir Medical Center, Zerifin, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
| | - Eran Pras
- Ophthalmology Department, Shamir Medical Center, Zerifin, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
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30
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Song JZ, Luong D, Feldman ECH, Tran S, Perrier L, Eubanks K, Bayley M, Kastner M, Slepian M, Munce SEP. Psychological interventions for individuals with Ehlers-Danlos syndrome and hypermobility spectrum disorder: a scoping review. Orphanet J Rare Dis 2023; 18:254. [PMID: 37653505 PMCID: PMC10472575 DOI: 10.1186/s13023-023-02799-y] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/14/2022] [Accepted: 07/05/2023] [Indexed: 09/02/2023] Open
Abstract
PURPOSE To identify the nature and extent of the evidence on psychological interventions among individuals with Ehlers-Danlos Syndrome (EDS) and Hypermobility Spectrum Disorder (HSD). MATERIALS AND METHODS Eligible studies reported on psychological interventions for individuals of all ages with EDS and/or HSD. All studies published in English were included, with no restrictions to publication year or status. MEDLINE, CINAHL, EMBASE, and PsycINFO were searched. Two reviewers independently screened studies and abstracted data. RESULTS This scoping review included 10 studies reporting on EDS, HSD, or both. Only cohort studies and case studies were identified. Four studies investigated Cognitive Behavioural Therapy (CBT), one investigated Dialectical Behavioural Therapy (DBT), two investigated psychoeducation, two investigated Intensive Interdisciplinary Pain Treatment (IIPT), and one investigated Acceptance Commitment Therapy (ACT). Interventions targeted pain management, self-destructive behaviours, and related psychological issues (e.g., depression/anxiety). Sample sizes were small (n < 50) for most studies and interventions were generally poorly described. CONCLUSIONS There is a critical need for high-quality research surrounding psychological interventions for individuals with EDS/HSD. Psychological interventions for these individuals are understudied and existing studies lack validity. Researchers should investigate psychological interventions for individuals with all types of EDS/HSD with high-quality studies to validate findings from the existing studies.
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Affiliation(s)
- Jessica Z Song
- KITE Research Institute, Toronto Rehabilitation Institute - University Health Network, Toronto, ON, Canada.
| | - Dorothy Luong
- KITE Research Institute, Toronto Rehabilitation Institute - University Health Network, Toronto, ON, Canada
| | - Estée C H Feldman
- Behavioral Medicine and Clinical Psychology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA
| | - Susan Tran
- Department of Psychology, DePaul University, Chicago, IL, USA
| | - Laure Perrier
- Dalla Lana School of Public Health, Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada
| | | | - Mark Bayley
- KITE Research Institute, Toronto Rehabilitation Institute - University Health Network, Toronto, ON, Canada
| | - Monika Kastner
- North York General Hospital, Toronto, ON, Canada
- Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada
| | - Maxwell Slepian
- GoodHope Ehlers-Danlos Syndrome Clinic, Toronto General Hospital, University Health Network, Toronto, ON, Canada
- Department of Anesthesia and Pain Management, Toronto General Hospital, University Health Network, Toronto, ON, Canada
- Krembil Research Institute, University Health Network, Toronto, ON, Canada
- Department of Anesthesiology and Pain Medicine, University of Toronto, Toronto, ON, Canada
| | - Sarah E P Munce
- KITE Research Institute, Toronto Rehabilitation Institute - University Health Network, Toronto, ON, Canada
- Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada
- Department of Occupational Science and Occupational Therapy, University of Toronto, Toronto, ON, Canada
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31
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Lipari ML, Laxson SE. Donor-Site Complication of Severe Valgus Ankle Deformity in an Adult With Ehlers-Danlos Syndrome Following Free Vascularized Fibular Grafting. Cureus 2023; 15:e42397. [PMID: 37621815 PMCID: PMC10446786 DOI: 10.7759/cureus.42397] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 07/24/2023] [Indexed: 08/26/2023] Open
Abstract
Valgus deformity of the ankle joint is a well-known and relatively common donor-site complication of free vascularized fibular graft harvest in children. Due to children having naturally greater ligamentous laxity than adults, the tibiofibular syndesmosis can be compromised with the loss of the fibular shaft, leading to valgus ankle deformity (VAD). Syndesmotic stabilization with screws is commonly recommended in subsets of pediatric patients at the greatest risk of this complication. In adults, the occurrence of VAD is seldom reported in the literature following fibular graft harvest. As such, no recommendation for syndesmotic stabilization exists in the adult population. We present a case of end-stage VAD in an adult patient with Ehlers-Danlos syndrome (EDS) following free vascularized fibular graft harvest. We hypothesize that other patients with generalized joint hypermobility may face the same complication and, thus, recommend the consideration of syndesmotic stabilization or primary syndesmotic fusion at the time of graft harvest in this patient population.
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32
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Walter SM, Dai Z, Wang K. Comorbidities of Rural Children and Adolescents with Migraine and without Migraine. CHILDREN (BASEL, SWITZERLAND) 2023; 10:1133. [PMID: 37508629 PMCID: PMC10378174 DOI: 10.3390/children10071133] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Subscribe] [Scholar Register] [Received: 05/25/2023] [Revised: 06/16/2023] [Accepted: 06/26/2023] [Indexed: 07/30/2023]
Abstract
(1) Background: Migraine is associated with comorbidities that are common in the general rural pediatric population. The purpose of this study is to evaluate the differences in the occurrence of comorbidities between rural children and adolescents with and without migraine. (2) Methods: A cross-sectional, secondary data analysis using electronic medical records of 1296 patients (53.8% females, aged 12.4 ± 3.2) was completed. Mann-Whitney U test was used to detect the difference in the number of comorbidities between the two groups. Chi-square test was used to identify the differences in the number of comorbidities, which were classified as low (0-1 comorbidities), medium (2-3 comorbidities), and high (4 or plus comorbidities) degree of comorbidities. (3) Results: Significant differences were found between those children and adolescents with migraine vs. those without for depression (p < 0.0001), anxiety (p < 0.0001), and Ehlers-Danlos Syndrome (EDS; p = 0.0309). A marginally significant difference was found between those children and adolescents with migraine (47.2%; n = 306) vs. those without (42.1%; n = 273) for unhealthy weight (p = 0.0652). Approximately 40% of the migraineurs had 2-3 comorbidities, whereas 32% of the non-migraineurs had 2-3 comorbidities (p = 0.0003). (4) Conclusions: Findings demonstrate the importance of identifying comorbidities associated with rural pediatric migraine in order to develop effective treatment strategies that optimize patient outcomes.
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Affiliation(s)
- Suzy Mascaro Walter
- Department of Family and Community Health, School of Nursing, West Virginia University, Morgantown, WV 26506, USA
| | - Zheng Dai
- Health Affairs Institute, West Virginia University, Morgantown, WV 26506, USA
| | - Kesheng Wang
- Department of Family and Community Health, School of Nursing, West Virginia University, Morgantown, WV 26506, USA
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Dondin M, Baeza-Velasco C. Joint Hypermobility and Fatigue Are Associated With Injuries in a Group of Preprofessional Ballet Dancers. J Dance Med Sci 2023:1089313X231177173. [PMID: 37300373 DOI: 10.1177/1089313x231177173] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 06/12/2023]
Abstract
INTRODUCTION Strenuous preprofessional ballet training places young students at an increased risk of injury. This represents a major concern for aspiring dancers since a link has been described between injury and dropping out. It is therefore important to identify physical and psychological factors related to injuries in dance for prevention purposes. METHODS In this cross-sectional study, we explored the frequency and characteristics of injuries, as well as their physical and psychological determinants in preprofessional ballet dancers. Seventy-three participants (women = 75.6%; mean age = 13.7; SD = 1.8) were evaluated with the Beighton criteria for joint hypermobility and self-questionnaires assessing injuries in the last 18 months, fatigue, fear of injury, and motivation. RESULTS Most of participants (61.6%) experienced injuries in the last 18 months, mainly in the lower limbs, and due to overuse. Multivariate analyses showed that joint hypermobility and fatigue predict injury status in this sample. CONCLUSION These results confirm previous reports suggesting that physical factors such as fatigue and joint hypermobility, that are frequent in ballet dancers, should be taken into account in order to prevent injuries.
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Affiliation(s)
- Morgan Dondin
- Laboratoire de Psychopathologie et Processus de Santé (LPPS UR 4057), Université Paris Cité, Boulogne Billancourt, France
| | - Carolina Baeza-Velasco
- Laboratoire de Psychopathologie et Processus de Santé (LPPS UR 4057), Université Paris Cité, Boulogne Billancourt, France
- Department of Emergency Psychiatry and Acute Care, CHU Montpellier, Montpellier, France
- Institute of Functional Genomics, University of Montpellier, CNRS, INSERM, Montpellier, France
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Clark NL, Johnson M, Rangan A, Kottam L, Swainston K. The biopsychosocial impact of hypermobility spectrum disorders in adults: a scoping review. Rheumatol Int 2023; 43:985-1014. [PMID: 36894757 PMCID: PMC10126066 DOI: 10.1007/s00296-023-05298-2] [Citation(s) in RCA: 16] [Impact Index Per Article: 8.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/03/2023] [Accepted: 02/24/2023] [Indexed: 03/11/2023]
Abstract
Joint hypermobility affects approximately 30% of the United Kingdom (UK) population, characterised by the ability to move joints beyond the physiological limits. Associated conditions include Ehlers-Danlos syndrome and hypermobility spectrum disorders, affecting individuals across physical, psychological and social levels detrimentally impacting their health and wellbeing. The scoping review aims to describe the known biopsychosocial impact of joint hypermobility conditions in adults over the last decade. Additional objectives include to (1) identify the types of studies that address these factors, (2) to understand how the impact of the condition is measured and managed and (3) what healthcare professionals (HCPs) are involved. The scoping review was conducted using the five-stage framework by Arksey and O'Malley. The search strategy related to two main keywords, "hypermobility" and, "biopsychosocial" across a number of electronic databases. A pilot search was conducted to determine the suitability of the databases and terms. Following the search, the data was extracted and charted, summarised and narratively reported. 32 studies met the inclusion criteria. The majority were conducted in either the UK or United States of America and case-control in design. The biopsychosocial impact was wide-ranging including, but not limited to, musculoskeletal system and dermatology, gastroenterology, mood and anxiety disorders, education and employments. This review is the first of its kind to summarise all reported symptoms and impact of joint hypermobility conditions in adults, highlighting a clear need to promote a multidisciplinary and holistic approach in raising awareness of these conditions and improving their management.
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Affiliation(s)
- Natalie L Clark
- South Tees Hospitals NHS Foundation Trust, Middlesbrough, UK
| | - Melissa Johnson
- South Tees Hospitals NHS Foundation Trust, Middlesbrough, UK
| | - Amar Rangan
- South Tees Hospitals NHS Foundation Trust, Middlesbrough, UK
- The Mary Kinross Trust and RCS Chair, Department of Health Sciences and Hull York Medical School, University of York, York, UK
| | - Lucksy Kottam
- South Tees Hospitals NHS Foundation Trust, Middlesbrough, UK
| | - Katherine Swainston
- School of Psychology, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK.
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Carroll MB. Hypermobility spectrum disorders: A review. RHEUMATOLOGY AND IMMUNOLOGY RESEARCH 2023; 4:60-68. [PMID: 37637226 PMCID: PMC10457547 DOI: 10.2478/rir-2023-0010] [Citation(s) in RCA: 12] [Impact Index Per Article: 6.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Subscribe] [Scholar Register] [Received: 02/24/2023] [Accepted: 06/21/2023] [Indexed: 08/29/2023]
Abstract
It remains a clinical challenge identifying when joint hypermobility (JH) is responsible for pain. Previous nomenclature utilized terms such as (benign) joint hypermobility syndrome (JHS) but this was updated in 2017 as advances in genetics provide a basis for nearly all variants of Ehlers-Danlos syndrome (EDS) with the exception of hypermobile EDS (hEDS). New terminology describes hypermobility spectrum disorders (HSDs) as the updated term for JHS. Diagnosis of a subtype of HSDs should be considered in patients who have JH coupled with the presence of secondary musculo-skeletal manifestations (trauma, chronic pain, disturbed proprioception, and other manifestations) and at the exclusion of hEDS. Extra-articular manifestations are common. Treatment relies on management strategies for other chronic pain syndromes with a multidisciplinary approach likely optimal. Lifestyle modifications focus on weight loss and exercise. Physical therapy helps strengthen periarticular muscles, improving mobility. Pharmacologic therapies focus on judicious use of non-steroidal anti-inflammatory drugs and acetaminophen. Serotonin and norepinephrine reuptake inhibitor may help widespread pain. Avoidance of opioids remains prudent. The purpose of this review is to provide clinicians the rationale for the update in nomenclature, understand the musculoskeletal and extra-articular manifestations of the subtypes of HSDs, considerations when making the diagnosis, and treatment.
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Affiliation(s)
- Matthew B Carroll
- Rheumatology, Singing River Health System, 3603 Bienville Blvd, Ocean Springs, MS 39564, USA
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Cohen A, Sela MC, Ran LZ, Rushinek H, Talisman S, Casap N. Increased Prevalence of Generalized Joint Hypermobility Observed in Patients With Recurrent Temporomandibular Joint Dislocation. J Oral Maxillofac Surg 2023:S0278-2391(23)00385-3. [PMID: 37160256 DOI: 10.1016/j.joms.2023.04.006] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/05/2023] [Revised: 03/27/2023] [Accepted: 04/12/2023] [Indexed: 05/11/2023]
Abstract
BACKGROUND Generalized joint hypermobility (GJH), determined by the Beighton score, is a fundamental part of diagnosing benign joint hypermobility syndrome (BJHS), which may also present extra-articular manifestations, and is determined by the Brighton criteria. PURPOSE This study was designed to investigate whether there is an association between recurrent temporomandibular joint (TMJ) dislocation and these disorders. STUDY DESIGN, SETTING, AND SAMPLE A retrospective cross-sectional study was conducted. Hospital-based patients with a history of recurrent TMJ dislocation were compared to population-based patients that did not experience TMJ dislocations or any other TMJ disorders. Age and sex matching were performed between the study groups. All subjects reached the age of skeletal maturity. PREDICTOR VARIABLE A history of recurrent TMJ dislocations. MAIN OUTCOME VARIABLES Measurements of Beighton score (range from 0 to 9 with a score of ≥ 4 indicating GJH) and correspondence to the Brighton criteria (with at least two "major" criteria or one "major" criterion plus two "minor" criteria or four "minor" criteria indicating BJHS). COVARIATES Included age and sex. ANALYSES Mann-Whitney U-test for continuous variables and the χ2 test or Fisher's exact test for categorical variables. Statistical significance was set at P < .05. RESULTS A total of 68 participants were included, of whom 34 patients presented with recurrent TMJ dislocations compared with a control population of 34. The Mean participants were 31.35 ± 8.06 years, and 29.4% (n = 20) were males. Of the dislocation group, 16 (47.0%) patients had a Beighton score of 4 or higher. The Beighton sum score was significantly higher, with a TMJ dislocation group mean score of 3.06 ± 2.8, compared with a control score of 0.82 ± 1.1 (P = .001). A total of 58.8% (n = 20) of the TMJ dislocation group participants met the Brighton criteria versus none (0.0%) of the control group (P = .001). CONCLUSION We found an association between recurrent TMJ dislocation and GJH. An association with BJHS was also found, based mainly on articular manifestations. Early detection of these disorders in patients suffering from recurrent TMJ dislocation may help identify individuals at increased risk for joint instabilities and allow the implementation of appropriate preventive management strategies.
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Affiliation(s)
- Adir Cohen
- Visiting (Attending), Department of Oral and Maxillofacial Surgery, Hebrew University-Hadassah, Jerusalem, Israel.
| | - Mati Cohen Sela
- Resident, Department of Oral and Maxillofacial Surgery, Hebrew University-Hadassah, Jerusalem, Israel
| | - Lioz Zok Ran
- Student, Faculty of Dental Medicine, Hebrew University-Hadassah, Jerusalem, Israel
| | - Heli Rushinek
- Visiting (Attending), Department of Oral and Maxillofacial Surgery, Hebrew University-Hadassah, Jerusalem, Israel
| | - Shahar Talisman
- Student, Braun school of public health, Hebrew University-Hadassah medical center, Jerusalem, Israel
| | - Nardy Casap
- Professor and Head, Department of Oral and Maxillofacial Surgery, Hebrew University-Hadassah, Jerusalem, Israel
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Sankova MV, Nikolenko VN, Oganesyan MV, Vovkogon AD, Gadzhiakhmedova AN, Zharikova TS, Zharikov YO. Identifying sex-specific injury predictors as a key factor in maintaining optimal physical activity levels. World J Orthop 2023; 14:146-154. [PMID: 36998385 PMCID: PMC10044326 DOI: 10.5312/wjo.v14.i3.146] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/17/2022] [Revised: 01/11/2023] [Accepted: 02/27/2023] [Indexed: 03/17/2023] Open
Abstract
BACKGROUND Optimal physical activity is known to reduce cardiovascular, respiratory and endocrine system diseases and, as a consequence, improve quality of life. An important risk factor for reinjuries during normal exercise is the initial connective tissue pathology. The variety of clinical dysplastic manifestations significantly complicate the timely diagnosis of this comorbidity. AIM To establish pathognomonic sex-specific dysplasia phenotypes that indicate a particular sensitivity to physical exertion. METHODS The study involved 117 participants with recurrent musculoskeletal injuries that occurred during normal exercise. There were 67 women (57.26%) and 50 men (42.74%), which made it possible to compare the presence of the identified signs between sexes. A validated questionnaire was used to screen their connective tissue status. RESULTS Ranking the most commonly revealed dysplasia signs depending on their clinical significance made it possible to establish pathognomonic sex-specific phenotypes that indicated a particular susceptibility to injuries. Individualized programs of optimal physical activity are necessary for men with chest deformities, flat-valgus feet, dolichostenomelia, arachnodactylia, hemorrhoids, abdominal muscle diastasis and recurrent hernias. In women, special sensitivity to physical exertion was associated with a combination of signs such as asthenic body, joint hypermobility, overly soft auricles, thin hyperelastic skin, atrophic striae, telangiectasias and varicose veins. Of particular importance were universal signs such as gothic palate, scoliosis, kyphosis, leg deformities, temporomandibular joint crunching, and moderate to high myopia. CONCLUSION Participants' connective tissue condition should be considered when designing optimal physical activity programs. Identifying the established sex-specific dysplasia phenotypes will allow timely optimization of training loads, thus reducing the risk of injury.
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Affiliation(s)
- Maria V Sankova
- Department of Human Anatomy and Histology, I.M. Sechenov First Moscow State Medical University (Sechenov University), Moscow 125009, Russia
| | - Vladimir N Nikolenko
- Department of Human Anatomy and Histology, I.M. Sechenov First Moscow State Medical University (Sechenov University), Moscow 125009, Russia
- Department of Normal and Topographic Anatomy, Lomonosov Moscow State University, Moscow 119991, Russia
| | - Marine V Oganesyan
- Department of Human Anatomy and Histology, I.M. Sechenov First Moscow State Medical University (Sechenov University), Moscow 125009, Russia
- Department of Normal and Topographic Anatomy, Lomonosov Moscow State University, Moscow 119991, Russia
| | - Andjela D Vovkogon
- Department of Human Anatomy and Histology, I.M. Sechenov First Moscow State Medical University (Sechenov University), Moscow 125009, Russia
- European Osteopathic Clinical Center of the Moscow Branch of the “Medical Academy of Osteopathic Education”, Saint Petersburg 199106, Russia
| | - Aida N Gadzhiakhmedova
- Institute of Clinical Medicine, I.M. Sechenov First Moscow State Medical University (Sechenov University), Moscow 119991, Russia
| | - Tatyana S Zharikova
- Department of Human Anatomy and Histology, I.M. Sechenov First Moscow State Medical University (Sechenov University), Moscow 125009, Russia
- Department of Normal and Topographic Anatomy, Lomonosov Moscow State University, Moscow 119991, Russia
| | - Yury O Zharikov
- Department of Human Anatomy and Histology, I.M. Sechenov First Moscow State Medical University (Sechenov University), Moscow 125009, Russia
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ARİFOĞLU KARAMAN Ç, ZEREN E, MARAL F, PARLAK M, KİRAZLI Ö, BORACI H, ZEREN M, ARİFOĞLU Y. The Effect of Hypermobility on Pain and Quality of Life in Young Adults. BEZMIALEM SCIENCE 2022. [DOI: 10.14235/bas.galenos.2022.55707] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/23/2022]
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A Comprehensive Review: Chronic Pain Sequelae in the Presence of Ehlers-Danlos Syndrome. Curr Pain Headache Rep 2022; 26:871-876. [PMID: 36434419 DOI: 10.1007/s11916-022-01093-z] [Citation(s) in RCA: 3] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 09/17/2022] [Indexed: 11/27/2022]
Abstract
PURPOSE OF REVIEW Patients diagnosed with Ehlers-Danlos syndromes (EDS), and especially those with the hypermobility subtype, often experience a diverse range of acute and chronic pain conditions throughout their lifetime. These can present in a variety of different phenotypes and comorbidities, making it difficult to develop structured treatment protocols. This review seeks to summarize the current literature to address old and novel treatments for EDS. RECENT FINDINGS Historically, medications and surgery have been used to treat patients with EDS but with low efficacy. Newer therapies that have shown promising effects for both decreasing pain and increasing quality of life include physical/occupational therapy, transcutaneous electrical nerve stimulation units, trigger point injections, low-dose naltrexone, and laser therapy. In addition, addressing the psychosocial aspects of pain with EDS through methods like cognitive behavioral therapy and patient education has shown to be vital in minimizing pain. Most research also emphasizes that pain management should not only focus on pain reduction, but on helping reduce symptoms of hypermobility, central sensitization, and fatigue to make an impactful difference. Research on pain in EDS is still limited with good clinical practice guidelines often limited by poor sample size and lack of clinical studies. Treatment options should be structured based on the specific type of pain pathology and presenting symptoms of each patient and their comorbidities. Future research should attempt to prioritize larger sample sizes, clear definitions of EDS subtypes, randomized trials for treatment efficacy, and more studies dedicated to non-musculoskeletal forms of pain.
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An investigation of body awareness, fatigue, physical fitness, and musculoskeletal problems in young adults with hypermobility spectrum disorder. Musculoskelet Sci Pract 2022; 62:102642. [PMID: 35973358 DOI: 10.1016/j.msksp.2022.102642] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/05/2022] [Revised: 07/25/2022] [Accepted: 07/30/2022] [Indexed: 12/14/2022]
Abstract
BACKGROUND AND OBJECTIVES Hypermobility Spectrum Disorder (HSD) is associated with excessive joint range of motion and the presence of musculoskeletal symptoms. The objective of this study was to examine body awareness, physical fitness parameters, fatigue levels, and musculoskeletal disorders in young adults with HSD and compare them with those without HSD. METHODS Young individuals in the age range of 18-24 years were included in the study. Joint hypermobility of individuals was determined by the Beighton Score. Evaluations were made using the Body Awareness Questionnaire, the Fatigue Severity Scale, the Eurofit Physical Fitness Test Battery, and the Cornell Musculoskeletal Discomfort Questionnaire. RESULTS A total of 94 healthy individuals (74 females, 20 males, mean age 21.44 years, SD ± 1.19 years), 47 with HSD and 47 without HSD, were included in the study. It was concluded that body awareness and fatigue levels were similar in two groups (p > 0.05). When physical fitness parameters were examined, there was a significant difference between the two groups in Sit and Reach test and the dominant side grip strength (p < 0.05). There was a significant difference between the two groups in the neck, back, dominant wrist, and total musculoskeletal problems (p < 0.05). CONCLUSION It was concluded that young individuals with HSD had more flexibility, lower grip strength, more pain especially in the neck and back region, and more musculoskeletal disorders in general. Joint hypermobility is a factor to be considered in evaluating functional performance in these individuals.
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Chen H, Zeng X, Xie Z, Ma L, Zhong G, Li L, Huang W, Zhang Y. Kinematic alterations of the ankle in subjects with generalized joint hypermobility compared with the controls: A cross-sectional study. J Orthop Surg (Hong Kong) 2022; 30:10225536221125951. [PMID: 36113013 DOI: 10.1177/10225536221125951] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/05/2023] Open
Abstract
INTRODUCTION Generalized joint hypermobility (GJH) is a hereditary connective tissue disease in which the range of motion (ROM) of multiple joints exceeds the normal range, and the ROM varies with age, gender, and ethnicity. At present, the six-degree-of-freedom (6-DOF) of ankle kinematics among people with GJH have not been studied. To investigate the kinematic characteristics in the ankle during treadmill gait of university students with generalized joint hypermobility compared to normal participants. We hypothesized that compared to the participants in the control group, those with GJH would exhibit kinematic characteristics of poorer active motion stability in the ankle during treadmill gait. METHODS Healthy university student volunteers aged 18-24 (excluding those with a history of ankle trauma, etc.) were recruited and divided into a control group (50 volunteers) and a GJH group (Beighton score ≥4, 50 volunteers). Data of the 6-DOF kinematics of ankle was collected using a 3D gait analysis system. Variables were evaluated using independent t-tests and Wilcoxon signed-rank tests. RESULTS In the proximal/distal parameter, proximal displacement was significantly increased in the GJH group compared with the control group during 4-9% and 96-97% of the gait phase (loading response and terminal swing phase), with an increase of (0.1-0.2 cm, p < .05). Regarding the proximal/distal, internal/external, plantarflexion/dorsiflexion, and anterior/posterior parameters, the participants with GJH exhibited greater ROM than those in the control group throughout the gait cycle (0.24 ± 0.22 cm vs. 0.19 ± 0.15 cm, p = 0.047, 5.56 ± 2.90° vs. 4.48 ± 3.30°, p = .020, 23.05 ± 5.75° vs. 20.36 ± 4.91°, p < .001, 0.65 ± 0.30 cm vs. 0.55 ± 0.27 cm, p = .018). However, ROM of inversion/eversion translation was found to be decreased in the GJH group compared to the control group (8.92 ± 1.59° vs. 9.47 ± 1.37°, p = .009). In addition, there was no statistical difference between the GJH group and the control group in ROM of medial/lateral translation (0.05 ± 0.06 cm vs. 0.04 ± 0.05 cm, p = .131). CONCLUSION Our results confirm that our hypothesis is not valid. Although there were a few differences in each gait parameter of the ankle between the GJH group and the control group, the difference was not significant. These results indicate that the presence of GJH has less effect on ankle kinematics and enhance our knowledge of the relationship between GJH and 6-DOF of ankle kinematics.
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Affiliation(s)
- Haobin Chen
- Department of Orthopaedics, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China
- The Second School of Clinical Medicine, Southern Medical University, Guangzhou, China
| | - Xiaolong Zeng
- Department of Orthopaedics, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China
- School of Medicine, South China University of Technology, Guangzhou, China
| | - Zhenyan Xie
- Department of Orthopaedics, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China
- Shantou University Medical College, Shantou, China
| | - Limin Ma
- Department of Orthopaedics, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China
| | - Guoqing Zhong
- Department of Orthopaedics, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China
- Shantou University Medical College, Shantou, China
| | - Liping Li
- Shantou University Medical College, Shantou, China
| | - Wenhan Huang
- Department of Orthopaedics, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China
| | - Yu Zhang
- Department of Orthopaedics, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China
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Nishanth S, Ushagowry S. A Diagnosis of Camptodactyly With Benign Joint Hypermobility Syndrome in a Patient Presenting With Fixed Flexion Deformity of the Fingers and Striae. Cureus 2022; 14:e26148. [PMID: 35891877 PMCID: PMC9302035 DOI: 10.7759/cureus.26148] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 06/21/2022] [Indexed: 11/12/2022] Open
Abstract
Camptodactyly is a genetic disorder that causes fixed flexion deformity of one or more fingers of single or both hands. It is very rare and the occurrence is very low amongst the children. It is linked to a handful of congenital connective tissue syndromes. It is passed onto generations with reduced expressivity. However, its association with benign joint hypermobility syndrome is rarely known. Joint hypermobility syndrome is a condition where there is extreme joint flexibility and it is related to a set of articular and extra-articular sequelae. We herein report a case of camptodactyly with benign joint hypermobility syndrome in a patient presenting with fixed flexion deformity of the fingers, joint hyperextensibility, and striae.
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Association between the Beighton Score and Stress Ultrasonographic Findings of the Anterior Talofibular Ligament in Healthy Young Women: A Cross-Sectional Study. J Clin Med 2022; 11:jcm11071759. [PMID: 35407367 PMCID: PMC8999742 DOI: 10.3390/jcm11071759] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/17/2022] [Revised: 03/15/2022] [Accepted: 03/21/2022] [Indexed: 02/04/2023] Open
Abstract
The Beighton score (BS) is widely used to evaluate generalized joint laxity. However, the association between the BS and lateral ankle laxity is unclear. This study compared the ultrasonographic (US) findings of the anterior talofibular ligament (ATFL) between high- (≥6) and low- (≤3) BS groups of healthy young women. The ATFL lengths of healthy young women were measured in the stress and nonstress positions using the previously reported technique from March 2021 to January 2022. The ATFL ratio (ratio of stress to nonstress ATFL length) was used as an indicator of lateral ankle laxity. The anterior drawer test (ADT) was performed. The correlation between the BS and US findings was also examined. A total of 20 (high-BS group) and 61 (low-BS group) subjects with a mean age of 23.8 ± 1.0 years were included. The high-BS group showed a higher grade of ADT than the low-BS group. No significant differences were found in the nonstress and stress ATFL lengths and ATFL ratio (1.10 ± 0.05 vs. 1.09 ± 0.05, p = 0.19) between the groups. No correlation was found between the BS and US findings. In conclusion, this study did not detect significant differences in the US findings of the ATFL between the high- and low-BS groups.
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Csecs JLL, Dowell NG, Savage GK, Iodice V, Mathias CJ, Critchley HD, Eccles JA. Variant connective tissue (joint hypermobility) and dysautonomia are associated with multimorbidity at the intersection between physical and psychological health. AMERICAN JOURNAL OF MEDICAL GENETICS. PART C, SEMINARS IN MEDICAL GENETICS 2021; 187:500-509. [PMID: 34806825 DOI: 10.1002/ajmg.c.31957] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Subscribe] [Scholar Register] [Received: 10/06/2021] [Revised: 10/26/2021] [Accepted: 11/09/2021] [Indexed: 02/06/2023]
Abstract
The symptoms of joint hypermobility extend beyond articular pain. Hypermobile people commonly experience autonomic symptoms (dysautonomia), and anxiety or related psychological issues. We tested whether dysautonomia might mediate the association between hypermobility and anxiety in adults diagnosed with mental health disorders and/or neurodevelopmental conditions (hereon referred to as patients), by quantifying joint hypermobility and symptoms of autonomic dysfunction. Prevalence of generalized joint laxity (hypermobility) in 377 individuals with diagnoses of mental health disorders and/or neurodevelopmental conditions was compared to prevalence recorded in the general population. Autonomic symptom burden was compared between hypermobile and non-hypermobile patients. Mediation analysis explored relationships between hypermobility, autonomic dysfunction, and anxiety. Patient participants had elevated prevalence of generalized joint laxity (38%) compared to the general population rate of 19% (odds ratio: 2.54 [95% confidence interval: 2.05, 3.16]). Hypermobile participants reported significantly more autonomic symptoms. Symptoms of orthostatic intolerance mediated the relationship between hypermobility and diagnosis of an anxiety disorder. Patients with mental health disorders and/or neurodevelopmental conditions have high rates of joint hypermobility. Accompanying autonomic dysfunction mediates the association between joint hypermobility and clinical anxiety status. Increased recognition of this association can enhance mechanistic understanding and improve the management of multimorbidity expressed in physical symptoms and mental health difficulties.
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Affiliation(s)
- Jenny L L Csecs
- Department of Neuroscience, Brighton and Sussex Medical School, University of Sussex, Falmer, UK.,Research and Development, Sussex Partnership NHS Foundation Trust, Sussex, UK
| | - Nicholas G Dowell
- Department of Neuroscience, Brighton and Sussex Medical School, University of Sussex, Falmer, UK
| | - Georgia K Savage
- Department of Neuroscience, Brighton and Sussex Medical School, University of Sussex, Falmer, UK.,Research and Development, Sussex Partnership NHS Foundation Trust, Sussex, UK
| | - Valeria Iodice
- Autonomic Unit, National Hospital for Neurology and Neurosurgery, London, UK.,UCL Queen Square Institute of Neurology, Faculty of Brain Sciences, University College London, London, UK
| | - Christopher J Mathias
- Autonomic Unit, National Hospital for Neurology and Neurosurgery, London, UK.,UCL Queen Square Institute of Neurology, Faculty of Brain Sciences, University College London, London, UK.,Neurovascular Medicine (Pickering Unit), St Mary's Hospital, Imperial College London, London, UK
| | - Hugo D Critchley
- Department of Neuroscience, Brighton and Sussex Medical School, University of Sussex, Falmer, UK.,Research and Development, Sussex Partnership NHS Foundation Trust, Sussex, UK
| | - Jessica A Eccles
- Department of Neuroscience, Brighton and Sussex Medical School, University of Sussex, Falmer, UK.,Research and Development, Sussex Partnership NHS Foundation Trust, Sussex, UK
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Maarj M, Coda A, Tofts L, Williams C, Santos D, Pacey V. Outcome measures for assessing change over time in studies of symptomatic children with hypermobility: a systematic review. BMC Pediatr 2021; 21:527. [PMID: 34839813 PMCID: PMC8628404 DOI: 10.1186/s12887-021-03009-z] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/18/2021] [Accepted: 11/15/2021] [Indexed: 11/24/2022] Open
Abstract
Background Generalised joint hypermobility (GJH) is highly prevalent among children and associated with symptoms in a fifth with the condition. This study aimed to synthesise outcome measures in interventional or prospective longitudinal studies of children with GJH and associated lower limb symptoms. Methods Electronic searches of Medline, CINAHL and Embase databases from inception to 16th March 2020 were performed for studies of children with GJH and symptoms between 5 and 18 years reporting repeated outcome measures collected at least 4 weeks apart. Methodological quality of eligible studies were described using the Downs and Black checklist. Results Six studies comprising of five interventional, and one prospective observational study (total of 388 children) met the inclusion criteria. Interventional study durations were between 2 and 3 months, with up to 10 months post-intervention follow-up, while the observational study spanned 3 years. Three main constructs of pain, function and quality of life were reported as primary outcome measures using 20 different instruments. All but one measure was validated in paediatric populations, but not specifically for children with GJH and symptoms. One study assessed fatigue, reporting disabling fatigue to be associated with higher pain intensity. Conclusions There were no agreed sets of outcome measures used for children with GJH and symptoms. The standardisation of assessment tools across paediatric clinical trials is needed. Four constructs of pain, function, quality of life and fatigue are recommended to be included with agreed upon, validated, objective tools.
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Affiliation(s)
- Muhammad Maarj
- Narrabeen Sports Medicine Centre, Sydney Academy of Sport, Sydney, Australia. .,Department of Health Sciences, Newcastle University, Newcastle, Australia.
| | - Andrea Coda
- Department of Health Sciences, Newcastle University, Newcastle, Australia.,Priority Research Centre Health Behaviour, Hunter Medical Research Institute HMRI, Newcastle, Australia
| | - Louise Tofts
- Narrabeen Sports Medicine Centre, Sydney Academy of Sport, Sydney, Australia.,Department of Health Professions, Macquarie University, Sydney, Australia
| | - Cylie Williams
- Department of Physiotherapy, Monash University, Melbourne, Australia
| | - Derek Santos
- Department of Health Sciences, Queen Margaret University, Scotland, UK
| | - Verity Pacey
- Department of Health Professions, Macquarie University, Sydney, Australia
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Starling CT, Nguyen QBD, Butler IJ, Numan MT, Hebert AA. Cutaneous manifestations of orthostatic intolerance syndromes. Int J Womens Dermatol 2021; 7:471-477. [PMID: 34621961 PMCID: PMC8484984 DOI: 10.1016/j.ijwd.2021.03.003] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/23/2020] [Revised: 02/05/2021] [Accepted: 03/05/2021] [Indexed: 11/27/2022] Open
Abstract
Dysautonomia refers to a group of autonomic nervous system disorders that affect nearly 70 million people worldwide. One subset of dysautonomia includes syndromes of orthostatic intolerance (OI), which primarily affect adolescents and women of childbearing age. Due to the variability in disease presentation, the average time from symptom onset to diagnosis of dysautonomia is 6 years. In general, there is a paucity of dermatological research articles describing patients with dysautonomia. The objective of this review is to summarize the existing literature on cutaneous manifestations in dysautonomia, with an emphasis on syndromes of OI. A PubMed database of the English-language literature (1970–2020) was searched using the terms “dysautonomia”, “orthostatic intolerance”, “cutaneous”, “skin”, “hyperhidrosis”, “hypohidrosis”, “sweat”, and other synonyms. Results showed that cutaneous manifestations of orthostatic intolerance are common and varied, with one paper citing up to 85% of patients with OI having at least one cutaneous symptom. Recognition of dermatological complaints may lead to an earlier diagnosis of orthostatic intolerance, as well as other comorbid conditions.
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Affiliation(s)
| | - Quoc-Bao D Nguyen
- Department of Dermatology, UTHealth McGovern Medical School at Houston, Houston, Texas
| | - Ian J Butler
- Department of Pediatrics, UTHealth McGovern Medical School at Houston, Houston, Texas
| | - Mohammed T Numan
- Department of Pediatrics, UTHealth McGovern Medical School at Houston, Houston, Texas
| | - Adelaide A Hebert
- Department of Dermatology, UTHealth McGovern Medical School at Houston, Houston, Texas.,Department of Pediatrics, UTHealth McGovern Medical School at Houston, Houston, Texas
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Schwartzkopf-Phifer K, Leach S, Whetstone K, Brown K, Matsel K. The Effect of a Novel Training Program to Improve Trunk Stability Push Up Performance in Active Females: A Pilot Study. Int J Sports Phys Ther 2021; 16:1345-1354. [PMID: 34631256 PMCID: PMC8486410 DOI: 10.26603/001c.28055] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/13/2021] [Accepted: 08/23/2021] [Indexed: 11/18/2022] Open
Abstract
BACKGROUND Trunk stability is a risk factor commonly associated with lower extremity injuries, particularly in females. Performance on trunk stability tasks, such as the Trunk Stability Push Up (TSPU), is less than optimal in females. Current corrective programs include few females, and clinically, improvements for females have been minimal. PURPOSE/HYPOTHESIS The purpose of this pilot study was to determine the effectiveness of a novel trunk stability intervention program in improving TSPU performance in a cohort of active female participants. It was hypothesized that ≥60% of participants would improve their TSPU scores to ≥2 via Functional Movement Screen™ (FMS™) criteria following a novel six-week intervention program. STUDY DESIGN Pilot Cohort Study. METHODS Participants were screened for pain with lumbar and shoulder clearing tests and hypermobility was assessed using Beighton scores. Additional testing included a breathing screen, the FMS™, Y-Balance Test-Lower Quarter and Y-Balance Test-Upper Quarter. Participants who scored a 1 on the TSPU received a home exercise program instructed by student physical therapists. Exercises focused on improving awareness of lumbar spine position and thoracic spine mobility. Participants returned for follow-ups after two and four weeks for instruction in exercise progression, which increased postural demand on the lumbar spine and upper extremities, and utilized closed-chain, multiplanar stability strategies. RESULTS Nine of 20 participants (45%) scored ≥2 on the TSPU at posttest. Due to the COVID-19 pandemic, only 12 participants were able to complete all posttest outcome measures. No significant differences were noted in the remaining outcome measures. Conclusion: The results of this study indicate that a multiplanar exercise approach, combining anti-extension and anti-rotation training, was beneficial for inducing trunk stability improvements in some active females. LEVEL OF EVIDENCE 2b.
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The Effectiveness of Physical Therapy in Patients with Generalized Joint Hypermobility and Concurrent Temporomandibular Disorders-A Cross-Sectional Study. J Clin Med 2021; 10:jcm10173808. [PMID: 34501255 PMCID: PMC8432079 DOI: 10.3390/jcm10173808] [Citation(s) in RCA: 10] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/24/2021] [Revised: 08/21/2021] [Accepted: 08/21/2021] [Indexed: 01/06/2023] Open
Abstract
Temporomandibular disorders (TMD) consist of a group of symptoms such as: pain of temporomandibular joints, masticatory muscles or surrounding tissues, dysfunctions of TMJs’ mobility, and crepitation. The Hypermobility Joint Syndrome (HJS) manifests in the flaccidity of joint structures, an increase in the range of joint motion, and occurs more often in the young and women. The aim of this study was to present the occurrence of HJS among patients with myogenic TMD and disc displacement with reduction. The secondary goal was to assess the effectiveness of physiotherapy directed to TMD with coexisting HJS. The study involved 322 patients with symptoms of TMD. HJS was diagnosed using the Beighton Scale, which confirmed its occurrence in 26 cases. 79 subjects (7 males and 72 females; mean age, 33.9 ± 10.4 years) were selected and divided into two groups: HJS + TMD (n = 26; 2 males and 24 females; mean age, 27.1 ± 9.4 years) and TMD (n = 53; 5 males and 48 females; mean age, 37.4 ± 9.2 years). These patients completed 3-week physiotherapy management. Before and after physiotherapy, the myofascial pain severity on Numeric Pain Rating Scale, linear measurement of maximum mouth opening, and opening pattern, were assessed. To demonstrate differences between the results, the level of significance for statistical analysis was set at α = 0.05. A statistically significant improvement was obtained in decreasing myofascial pain in both groups. Coordination of mandibular movements was achieved in both groups. Generalized joint hypermobility occurred among patients with TMD. Physiotherapy directed to TMD was effective in reducing myofascial pain and restoring TMJ’s coordination also in patients with HJS.
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Ruiz Maya T, Fettig V, Mehta L, Gelb BD, Kontorovich AR. Dysautonomia in hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders is associated with exercise intolerance and cardiac atrophy. Am J Med Genet A 2021; 185:3754-3761. [PMID: 34331416 DOI: 10.1002/ajmg.a.62446] [Citation(s) in RCA: 8] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/08/2021] [Revised: 06/16/2021] [Accepted: 07/16/2021] [Indexed: 11/11/2022]
Abstract
Dysautonomia is a recognized manifestation in patients with joint hypermobility (JH) disorders. Symptoms can be highly debilitating and commonly include physical deconditioning and poor aerobic fitness. In this study, the prevalence of dysautonomia, range of associated symptoms, patient-reported physical activity levels, and echocardiographic features were assessed retrospectively in a cohort of 144 patients (94% female) with hypermobile Ehlers-Danlos syndrome (hEDS) or hypermobility spectrum disorder (HSD). Echocardiographic parameters of left ventricular size and function were compared between patients with and without dysautonomia as well as to reported values from healthy controls. Dysautonomia was identified in 65% of female and 44% of male subjects and was associated with a high burden of symptomatology, most commonly exercise intolerance (78%). Exercise capacity was limited by dysautonomia, often postural symptoms, in half of all patients. We observed a reduction in physical activity following the onset or significant flare of hEDS/HSD, most strikingly noting the proportion of dysautonomic patients with sedentary lifestyle, which increased from 44% to 85%. JH-related dysautonomia was associated with smaller cardiac chamber sizes, consistent with the previous reports in positional orthostatic tachycardia syndrome. Dysautonomia is prevalent in patients with hEDS/HSD, and exercise intolerance is a key feature and leads to drastic decline in physical activity. Unfavorable cardiac geometry may underlie dysautonomia symptoms and may be due to cardiac atrophy in the setting of aerobic deconditioning.
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Affiliation(s)
- Tania Ruiz Maya
- Zena and Michael A. Wiener Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA
| | - Veronica Fettig
- Zena and Michael A. Wiener Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA.,Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.,Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York, USA
| | - Lakshmi Mehta
- Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA
| | - Bruce D Gelb
- Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.,Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York, USA.,The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA
| | - Amy R Kontorovich
- Zena and Michael A. Wiener Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA.,The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA
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50
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Reychler G, De Backer MM, Piraux E, Poncin W, Caty G. Physical therapy treatment of hypermobile Ehlers-Danlos syndrome: A systematic review. Am J Med Genet A 2021; 185:2986-2994. [PMID: 34145717 DOI: 10.1002/ajmg.a.62393] [Citation(s) in RCA: 19] [Impact Index Per Article: 4.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/12/2020] [Revised: 02/17/2021] [Accepted: 05/11/2021] [Indexed: 12/30/2022]
Abstract
Physiotherapy techniques are regularly prescribed in the hypermobile type Ehlers-Danlos syndrome (hEDS) and they are appreciated by the patients. The objective of this systematic review was to investigate the effect of the different physiotherapy techniques related to the children and adult patients with hEDS. PubMed, SPORTDiscus, Cochrane Library, PEDro, Scopus, and Embase databases were analyzed from inception to April 2020. Characteristics of the studies (authors), patients (sample size, sex, age, Beighton score), and nonpharmacological treatment (length of the program, number of session, duration of the session, and type of intervention), and the results with the dropout rate were extracted. From the 1045 retrieved references, 6 randomized controlled trial with a sample size ranging from 20 to 57 patients were included in the systematic review. There was a huge heterogeneity in the interventions. The durations of the program were from 4 to 8 weeks. Pain or proprioception demonstrated significant improvements in the intervention group regardless of the type of intervention. A benefit of the inspiratory muscle training was observed on functional exercise capacity. The quality of life was systematically improved. Physiotherapy benefits on proprioception and pain in patients with hEDS even if robust randomized control studies are missing.
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Affiliation(s)
- Gregory Reychler
- Institut de Recherche Expérimentale et Clinique (IREC), Pôle de Pneumologie, ORL & Dermatologie, Université Catholique de Louvain, Brussels, Belgium.,Service de Pneumologie, Cliniques universitaires Saint-Luc, Brussels, Belgium.,Secteur de Kinésithérapie et Ergothérapie, Cliniques universitaires Saint-Luc, Brussels, Belgium
| | - Maya-Mafalda De Backer
- Institut de Recherche Expérimentale et Clinique (IREC), Pôle de Pneumologie, ORL & Dermatologie, Université Catholique de Louvain, Brussels, Belgium.,Secteur de Kinésithérapie et Ergothérapie, Cliniques universitaires Saint-Luc, Brussels, Belgium
| | - Elise Piraux
- Institut de Recherche Expérimentale et Clinique (IREC), Pôle de Pneumologie, ORL & Dermatologie, Université Catholique de Louvain, Brussels, Belgium.,Secteur de Kinésithérapie et Ergothérapie, Cliniques universitaires Saint-Luc, Brussels, Belgium
| | - William Poncin
- Institut de Recherche Expérimentale et Clinique (IREC), Pôle de Pneumologie, ORL & Dermatologie, Université Catholique de Louvain, Brussels, Belgium.,Secteur de Kinésithérapie et Ergothérapie, Cliniques universitaires Saint-Luc, Brussels, Belgium
| | - Gilles Caty
- Service de Médecine Physique, Cliniques universitaires Saint-Luc, Brussels, Belgium
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