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Nagorna, Olha, Liudmyla Brega, and Viktor Gorchak. "Joint Hypermobility Syndrome in Infants." Physical education, sports and health culture in modern society, no. 2(38) (June 30, 2017): 164–68. http://dx.doi.org/10.29038/2220-7481-2017-02-164-168.
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In the article considered the problem and treatment of joint hypermobility syndrome of people in different ages, especially of children of the first year of life. The mission of the theoretical study is expected the realization of the system analysis of scientific and methodological literature on the topic, studying methods of examination and reformation of individuals with the joint hypermobility syndrome; identifying the key issues of differential diagnosis of infants with the syndrome of joints hypermobility, burdened with delayed development of general motor skills; analysis of physical rehabilitation of children in the above-mentioned age and nosological category. Methods of the analysis include the theoretical analysis, synthesis and generalization of the literary sources. In the article emphasized the concept of screening and identifying the manifestation of joints hypermobility in individuals of different ages. It demonstrates the necessity of the application of differentiated diagnostic testing of locomotors areas in infants and application of appropriate specific examinations for the objective evaluation of these patients. In particular, there is a proposed use of the following tests: the visual assessment of the child’s arbitrary posture at rest and in motion, test on tone muscles, test for traction, determining whether there are «symptoms of a composite blade» and «symptom of flaccid shoulder», detection of supportive functions of legs, arms, determination and volume resistance of passive movements. Attention focused on the necessity to find a comprehensive physical rehabilitation program for the effective and rapid formation of motor functions in infants. As a result of the theoretical research, it is possible be concluded that the clinical studies of the joint hypermobility syndrome, the consequences of this pathology and directions towards its correction in the literal sources are not enough highlighted. It demands the improvement of methods of the diagnosis delay in motor areas in infants at the presence of joints hypermobility. It is necessary to optimize the programs of physical rehabilitation in infants with the developmental delay of locomotion to prevent complications of their features musculou-ligamentous apparatus.
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Pyantkovsky, А. S. "Дисплазия соединительной ткани". Likarska sprava, № 7 (19 листопада 2012): 166–69. http://dx.doi.org/10.31640/ls-2012-7-28.
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The article presents a diagnosis of dysplasia of connective tissue in athletes, where the most important are the methods of clinical assessment using diagnostic tests and rating scales manifestation of connective tissue dysplasia. Evaluation of patients with suspected connective tissue dysplasia should include inspection of an ophthalmologist, orthopedic trauma, cardiology. Should also be carried out by criteria diagnosis degree of connective tissue dysplasia by T. Y. Smolnova (2003) (Large and small diagnostic criteria), which include: increased skin extensibility, joint hypermobility (sprain, dislocation and subluxation, flat feet), muscle hypotonia, a hereditary predisposition to the disease, evaluation of signs joint hypermobility (Beighton criteria). If during routine medical examination revealed athletes with manifestations of connective tissue dysplasia, they are subject to a more in-depth examination and observation. Early diagnosis of connective tissue dysplasia allows not only to plan the training process, but also reduces the trauma of athletes.
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Zschocke, Johannes, Serwet Demirdas, and Fleur S. van Dijk. "Genetic diagnosis of the Ehlers-Danlos syndromes." Medizinische Genetik 36, no. 4 (2024): 235–45. https://doi.org/10.1515/medgen-2024-2061.
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Abstract The Ehlers-Danlos syndromes (EDS) represent a group of genetically diverse disorders characterized by the variable combination of joint hypermobility, hyperextensibility of the skin, and connective tissue fragility affecting the skin and other organs. Based on clinical features, 13 different types of EDS have been delineated, 12 of which represent monogenic conditions caused by pathogenic variants in 21 confirmed genes. Pathogenesis is related to disturbances of collagen formation and/or stability. No monogenic cause has been identified for hypermobile EDS (hEDS), a more common EDS type, which is unlikely to represent a single gene disorder in the majority of affected individuals and at present cannot be diagnosed by genetic investigations. Here we summarize the clinical features and the molecular bases of the monogenic EDS types, highlight diagnostic challenges, and provide guidance for the molecular work-up of affected individuals. In general, genetic tests are indicated if clinical features suggest a monogenic EDS type but are usually unrewarding for other cases of hypermobility.
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Kapounková, Kateřina, Ivan Struhár, and Jitka Kopřivová. "Závislost hypermobility na výskytu lehkých mozečkových dysfunkcí u závodnic v moderní gymnastice." Studia sportiva 10, no. 1 (2016): 96–102. http://dx.doi.org/10.5817/sts2016-1-9.
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The aim of the study was to ascertain information upon the occurrence of hypermobility as well as the symptoms of light brain dysfunction in rhythmic gymnasts and to prove their relationship. The research sample consisted of 78 girls from rhythmic gymnastics teams from the Czech Republic with average age 12,81 ± 2,47. The study used deliberate selection on the basis of chosen criteria: women, age 10 – 18 years, at least 5 let of specialised training in rhythmic gymnastics, week load at least 10 hours. The diagnostics of hypermobility used the method of measuring joint range with the aid of goniometer. The range of the movement of hip joint was measured and Janda test. The diagnostics of mild brain dysfunction diagnostics used orientation brain tests. It is the test of tax, which is aimed upon the proper aiming of movement, test of diadochokinesis, which is aimed at the ability to perform alternating movements, and the test of stability using Romberg pose on a balance platform with open eyes. The results of the goniometric measurement showed a significant flexibility of the gymnasts, mainly in the area of their hip joint (flexe right hip joint 161,09 °; ± 14,78 and flexe left hip joint 158,54 ° ± 14,05). When diagnosing mild brain dysfunction using tax, in both the upper and the lower extremities, no pathology was ascertained, on the contrary, however dysdiadochokinesis was found in 7 gymnasts. The results of the Romberg pose on the balance platform were mildly above the norm (compared with general population), nonetheless, the 7 people with dysdiadochokinesis showed results under the values of the general population. The people with dysdiadochokinesis, also showed worse results in the Romberg pose on the balance platform, as well as the symptoms of hypermobility, which where proved by goniometric examination.
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BIKCHURIN, N. M., F. V. TAKHAVIEVA, and A. V. BORISOVA. "Modern approach to the examination of young athletes with pain in the lower back." Practical medicine 18, no. 5 (2020): 79–81. http://dx.doi.org/10.32000/2072-1757-2020-5-79-81.
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The article presents the developed diagnostic algorithm SMART for examination of young athletes. The research object is girls aged 8 to 15 engaged in rhythmic gymnastics at a youth sports school. Research methods: collecting anamnesis, visual examination, assessing the volume of active and passive movements, assessing muscle strength, conducting specific tests, statistical data processing. Results. The use of SMART-examination revealed postural disorders in 67% of the examined, deviations in the bends of the spine — in 85%, instability of the lumbar spine in 11%, a test of nerve root irritation was positive in 6%. It was also noted that in all young athletes have joint hypermobility. For the purpose of early diagnosis of vertebrogenic pathology in children and adolescents engaged in rhythmic gymnastics, it is recommended to carry out the proposed SMART-examination.
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Kozhevnikov, A., N. Pozdeeva, M. Nikitin, Y. Proshchenko, and G. Novik. "AB0991 EPIDEMIOLOGY AND CLINICAL FEATURES OF CHRONIC JOINT PAIN IN CHILDREN AND ADOLESCENTS." Annals of the Rheumatic Diseases 79, Suppl 1 (2020): 1789.3–1789. http://dx.doi.org/10.1136/annrheumdis-2020-eular.681.
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Background:Arthralgia in children for many years continues to maintain the status of the most common symptom of rheumatic diseases. However this symptom should not always be interpreted as a manifestation of arthritis. Well known that arthralgia in growing children is a frequent problem which can be caused by pathological or innocuous process.Objectives:The goal of this study was toanalyze the structure of childhood arthralgia.Methods:Wecarried outaretrospective review of 600children who applied to the outpatient department of the institute with a complaint of pain lasting longer than two months in one or more joints. The clinical, instrumental and laboratory pictures were studied. Special attention was paid to certain aspect of joint pain by the child or his parents. The data obtained made it possible to systematize and detail the nature of the articular pathology in children of various age groups.Results:All children were divided into several groups based on their anatomical and physiological characteristics of osteoarticular system: the first group consisted of 240 children under 6-7 years old, the second group – 220 children 7-12 years old, the third group – 140 children over 12 years old.Research suggests that more preschool children were experience bilateral lower extremity pain by “post-walk genesis” due to natural hypermobility, immaturity of sensory innervation of the joints and imbalance of the leg muscles (e.g. growing pains). The second most common cause was joints pain associated with infectious factor (post-infectious genesis or chronic foci of infection). The frequency of juvenile arthritis and other rheumatic diseases in children of this age group did not exceed 10%. Special attention was paid to nightpain with fever and changes in blood tests to exclude malignancies manifestation and other tumors (less 5%).The most common causes of joint pain of school-age children were hypermobility syndrome and enthesopathy (primary, secondary). Secondary enthesopathy were result of changes in nutrition, rapid growth and excessive exercise. Also enthesopathy were manifestation of endocrine, gastrointestinal or infectious diseases. The proportion of children with the onset of chronic inflammatory arthropathy also did not exceed 10%. Hypermobility child’s syndrome was characterized by harmless pain, linked to physical activity (less morning stiffness).Over the past decade, we’ve seen a gradualincrease in the number of childrenwith diagnosed patellofemoral pain (non-traumatic) and mediopatellar plica syndromes (95% were girls). In most cases children was complicated by syndrome of increased anxiety. Cases of apophysitis as cause of chronic arthralgia were over 15%. The share of true chronic inflammatory arthropathies, including spondylitis, in children of this age group did not exceed 10%. Fibromyalgia were diagnosed less 5%.Conclusion:Despite continuous improvements in examination technique and image quality there is no universal test to diagnose cause of childhood arthralgia. Age features, individual nature of pain perception, the high frequency of incomplete and transient forms of arthropathy, cases atypical joint diseases have been intriguing problems for diagnostic pathology. Integrated assessment modelling framework of the clinical and instrumental pictures with understanding of the anatomical and physiological characteristics of childhood will help identify the true cause of chronic musculoskeletal pain. there is no single test to diagnose CADisclosure of Interests:None declared
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Schlager, Angela, Lena Nilsson-Wikmar, Kerstin Ahlqvist, Christina B. Olsson, and Per Kristiansson. "“Could a subset of joint mobility tests define generalized joint hypermobility?”: A descriptive observational inception study." PLOS ONE 19, no. 4 (2024): e0298649. http://dx.doi.org/10.1371/journal.pone.0298649.
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Background Generalized joint hypermobility is an inherited collagen phenotype based on clinical assessments of joint mobility. However, there is no international consensus to define generalized joint hypermobility, both considering which joint mobility tests should be included and limits for joint hypermobility. Objectives The primary aim of the study was to identify a subset of joint mobility tests to define generalized joint hypermobility. A further aim was to evaluate standardized limits for the classification of hypermobility in different joint types throughout the body. Methods A total of 255 early pregnant women were included in the study. Joint mobility was measured according to a structured protocol. Correlation and principal component analysis were used to find a subset of joint mobility tests. To classify hypermobility in each joint mobility test, five different standard deviation levels plus 0.84, plus 1.04, plus 1.28, plus 1.64 and plus 2 were used, corresponding to 20%, 15%, 10%, 5% and 2.5% of the normal distribution. Results No subset of joint mobility test could define generalized joint hypermobility. The higher the standard deviation levels, the higher the limit to classify joint hypermobility and the lower the prevalence. As a result of no subset of joint mobility tests were found to define generalized joint hypermobility, different combinations of major and minor joints in upper and lower limbs and the axial skeleton, were systematically developed. These combinations were evaluated for each standard deviation level, resulting in a prevalence of generalized joint hypermobility between 0% and 12.9% and a clear variation in how the hypermobile joint mobility tests were distributed. Conclusion It is probably not possible to choose a subset of joint mobility tests to define GJH. In order not to overlook generalized joint hypermobility, a broader assessment of different joint types and sizes of joints appears to be needed. The prevalence of generalized joint hypermobility is dependent on joint hypermobility limit and the chosen combination of joint mobility tests.
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Umanskaya, Yu N. "Temporomandibular joint dysfunction due to benign joint hypermobility syndrome." Kazan medical journal 94, no. 6 (2013): 843–46. http://dx.doi.org/10.17816/kmj1802.
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Aim. To mark out the main features of temporomandibular joint dysfunction in patients with benign joint hypermobility syndrome. Methods. 90 patients with temporomandibular joint dysfunction were examined. The first group included 53 (58.89%) patients with benign joint hypermobility syndrome, the second group - 37 patients with temporomandibular joint dysfunction without any signs of benign joint hypermobility syndrome. Functional joint examination including clinical examination, examination of jaw diagnostic models in articulators, X-ray and magnetic resonance imaging, was performed. The diagnosis of benign joint hypermobility syndrome was set up by clinical findings according to national recommendations of Russian Society of Cardiology. Results. Two main trends were found in patients with benign joint hypermobility syndrome. Joint hypermobility was present in 27 (50.94%) out of 53 patients aged 30 years and older. Temporomandibular joint dysfunction in those patients was quite severe, associated with pain and limited range of mandibular movement. In 49.06% of cases in patients with benign joint hypermobility syndrome aged younger than 30 years, bone symptoms were present. Those patients were complaining of joint noises. In 38.46% of cases, gothic palate or frontal teeth crowding were observed. According to magnetic resonance imaging, there was a condylar processes asymmetry at occlusion in 41 (77.36%) patients with benign joint hypermobility syndrome. Conclusion. Clinical and morphologic signs of temporomandibular joint dysfunction in patients with benign joint hypermobility syndrome are associated with predisposed changes in temporomandibular joint capsule and ligaments. Temporomandibular joint dysfunction is a typical and regular feature of benign joint hypermobility syndrome.
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Sudaryanto, Wahyu Tri, Ika Yuli Ayuningrum, and Dylla Ramadhani Putri. "GENDER-RELATED DIFFERENCE IN JOINT HYPERMOBILITY AMONG SCHOOL-AGED CHILDREN: A DESCRIPTIVE STUDY." Jurnal Keperawatan Karya Bhakti 9, no. 2 (2023): 15–21. http://dx.doi.org/10.56186/jkkb.108.
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Joint hypermobility is common among school-aged children and it may progressively lead to joint pain and developmental delay. Identifying joint hypermobility in school-aged children would facilitate the monitoring of early changes and planning for early rehabilitative intervention. This study aimed to describe gender-related difference in joint hypermobility among school-aged children. A descriptive study was conducted in an elementary school in Surakarta, Central Java, Indonesia. The study subjects were 261 students aged 6 to 12 years selected randomly. The study variables were gender and joint hypermobility. Beighton scale was used to assess joint hypermobility score. Gender-related difference in joint hypermobility among school-aged children was tested using t-test. The results of ≥4 points on Beighton scale was observed in 157 of 261 school-aged children (60.2%). Mean of Beighton score in female children (Mean= 3.87; SD= 0.19) was higher than male chidren (Mean= 4.15; SD= 1.82), but it was statistically non-significant (p= 0.256). It can conclude that there is no difference between gender in joint hypermobility among school-aged children. The need for joint hypermobility screening tests in elementary school children is highlighted.
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Butt, Nauman, Muhammad Rasheed, Fahmina Ashfaq, Muhammad Ghoauri, Aniqa Anser, and Dur Sabeeh. "Frequency of joint hypermobility using Beighton’s score in patients of fibromyalgia at a tertiary care hospital." Rawal Medical Journal 49, no. 2 (2024): 1. http://dx.doi.org/10.5455/rmj.20230221112559.
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Objective: To determine frequency of joint hypermobility in patients of fibromyalgia presenting to our institution. Methodology: This observational cross-sectional analytical study was conducted from June 2021 to May 2022 at Department of Medicine & Allied, Azra Naheed Medical College, Superior University, Lahore, Pakistan. Fibromyalgia was defined according to the 1990 ACR diagnostic Criteria of Fibromyalgia. Localized Joint Hypermobility was defined as <3 score and generalized Joint Hypermobility was defined as >4 score on the Beighton Score Scale. The study included 266 patients with fibromyalgia of both sexes aged between 16 years to 35 years. Joint hypermobility was assessed by using Beighton score. Results: Mean age was 26.5+4.6 years with 178 (66.9%) females. Mean BMI was 23.9+3.9 kg/m2. Mean Beighton score was 1.1+2.4. Generalized Joint Hypermobility was seen in 34 (12.8%) patients, 23 (8.6%) had localized hypermobility whereas 209 (78.6%) had no hypermobile joints. Stratification of outcome was done with regards to age (p=0.683), sex (p=0.238) and BMI (p=0.482). Conclusion: This study showed that generalized joint hypermobility was present approximately in one out of every 10 patients and a quarter of patients had at least one clinically documented hypermobile joint.
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Sawicka, Weronika, and Anna Ogonowska-Slodownik. "Hypermobility of joints in adolescent swimmers." Central European Journal of Sport Sciences and Medicine 48 (2024): 5–13. https://doi.org/10.18276/cej.2024.4-01.
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Joint hypermobility (JH) can be an advantage in many sports. On the other hand, it can also be one of the risk factors for developing pain or injury. The objective of the study was to compare JH diagnostic methods in adolescent swimmers, to locate the most common position of JH and assess its effect on swimming performance. This was a diagnostic study. The study group comprised of 40 adolescent swimmers (20 female and 20 male) aged 13-18 years. Three diagnostic methods were used to assess joint hypermobility: Beighton score (BS), Sachse’s criteria (SC), modified by Kapandji, and the Grahame and Hakim questionnaire (GHQ). In addition, questionnaire designed for the study was also applied. Joint hypermobility was identified in 62.5% of the swimmers by the BS, 22.5% by the SC and 57.5% by the GHQ. In addition, 75% of the swimmers indicated joint pain in the shoulder. JH was most often localized in knee joints regardless of the method used. Based on the results of the BS and GHQ and the level of athletes' sports performance, higher sports performance was associated with more frequent occurrence of JH. A diagnosis of JH in swimmers is influenced by the method so there is a need for unified diagnostic criteria for JH in this group. In adolescent swimmers, JH is more common in large limb joints, and appears to contribute to better results.
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Juul-Kristensen, B., H. Rogind, D. V. Jensen, and L. Remvig. "Inter-examiner reproducibility of tests and criteria for generalized joint hypermobility and benign joint hypermobility syndrome." Rheumatology 46, no. 12 (2007): 1835–41. http://dx.doi.org/10.1093/rheumatology/kem290.
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Nicholls, Sarah. "Joint hypermobility syndrome: Patients’ experiences of the diagnostic process." Clinical Chiropractic 15, no. 3-4 (2012): 189–90. http://dx.doi.org/10.1016/j.clch.2012.10.025.
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Eccles, J., J. Tung, N. Harrison, C. Mathias, and H. Critchley. "Joint Hypermobility Syndrome and Anxiety Disorder: Structural Brain Correlates." European Psychiatry 41, S1 (2017): S233—S234. http://dx.doi.org/10.1016/j.eurpsy.2017.01.2246.
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IntroductionJoint hypermobility syndrome/Ehlers Danlos III (JHS/EDS III) is a common, connective tissue condition. This group is over-represented in panic/anxiety disorders and exhibits autonomic abnormalities and heightened interoceptive sensibility. Previous neuroimaging in healthy volunteers with hypermobility has observed differences in key emotional brain regions, notably amygdala and insula.Aims and objective To explore, in a clinical population, the structural brain correlates underpinning the association between JHS/EDS III and anxiety.MethodSeventy participants were divided into four experimental groups: (2 × 2 factor design: presence/absence of hypermobility; presence/absence of anxiety). Hypermobility was assessed using Brighton Criteria. All participants underwent brief tests of autonomic function and interoception. Structural images were obtained using a 1.5 T MRI scanner. Results are reported at whole brain uncorrected significance threshold of P < 0.001.ResultsComparison of grey matter volume revealed increased insular volume in anxious patients with JHS/EDS-III compared to anxious patients without (Fig. 1A, B), correlating with initial peak heart rate on standing. Additionally, amygdala volume correlated with hypermobility score in anxious patients, but not in non-anxious individuals (Fig. 1C, D). Amygdala volume correlated with interoceptive accuracy.ConclusionsThis data implicates amygdala and insula as likely neural substrates mediating clinical relationships between hypermobility syndrome and anxiety, demonstrating the relevance of autonomic and interoceptive influences on this relationship. Further work hopes to explore functional and structural connectivity between these regions in JHS/EDS-III.Disclosure of interestThe authors have not supplied their declaration of competing interest.
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Mittal, Nimish, Andrea Sabo, Amol Deshpande, Hance Clarke, and Babak Taati. "Feasibility of video-based joint hypermobility assessment in individuals with suspected Ehlers-Danlos syndromes/generalised hypermobility spectrum disorders: a single-site observational study protocol." BMJ Open 12, no. 12 (2022): e068098. http://dx.doi.org/10.1136/bmjopen-2022-068098.
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IntroductionEhlers-Danlos syndromes (EDS)/generalised hypermobility spectrum disorders (G-HSD) affect the connective tissue of the body and present with a heterogeneous set of symptoms that pose a challenge for diagnosis. One of the main diagnostic criteria of EDS/G-HSD is generalised joint hypermobility, which is currently assessed by clinicians during a physical exam. However, the practice for measuring joint hypermobility is inconsistent between clinicians, leading to high inter-rater variability. Often patients are misdiagnosed with EDS/G-HSD based on an incorrect hypermobility assessment, leading to increased referral rates and resource utilisation at specialised EDS clinics that results in unnecessary emotional distress for patients. An objective, validated and scalable method for assessing hypermobility might mitigate these issues and result in improved EDS/G-HSD patient care.Methods and analysisThis study will examine the use of videos obtained using a smartphone camera to assess the range of motion (ROM) and hypermobility of the joints assessed in Beighton score and more (spine, shoulders, elbows, knees, ankles, thumbs and fifth fingers) in individuals with suspected EDS/G-HSD. Short videos of participants will be captured as they undergo a formal assessment of joint hypermobility at the GoodHope EDS Clinic at Toronto General Hospital. Clinicians will measure the ROM at each joint using a clinical-grade goniometer to establish ground truth measurements. Open-source human pose-estimation libraries will be used to extract the locations of key joints from the videos. Deterministic and machine learning systems will be developed and evaluated for estimating the ROM at each joint. Results will be analysed separately for each joint and human pose-estimation library.Ethics and disseminationThis study was approved by the Research Ethics Board of the University Health Network in Toronto on 26 April 2022. Participants will provide written informed consent. Findings from this study will be published in peer-reviewed journals and presented at conferences.Trial registration numberNCT05366114.
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Desfor, Fara G. "Assessing Hypermobility in Dancers." Journal of Dance Medicine & Science 7, no. 1 (2003): 17–23. http://dx.doi.org/10.1177/1089313x0300700103.
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Many dancers have extreme joint mobility that can be an asset in the profession but may also put them at risk for injury. This article offers a brief review of the pathology, prevalence, and biomechani-cal implications of hypermobility as well as descriptions and evaluations of various mobility tests. A generally accepted tool for assessing hypermobility in dancers has yet to be developed but will probably need to distinguish acquired from inherited hypermobility and take into account different types and levels of dancer training.
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Pasinato, Fernanda, Juliana Alves Souza, Eliane Castilhos Rodrigues Corrêa, and Ana Maria Toniolo da Silva. "Temporomandibular disorder and generalized joint hypermobility: application of diagnostic criteria." Brazilian Journal of Otorhinolaryngology 77, no. 4 (2011): 418–25. http://dx.doi.org/10.1590/s1808-86942011000400003.
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Forghani, Irman, Julia See, and William C. McGonigle. "Hypermobile Ehlers–Danlos Syndrome: Diagnostic Challenges and the Role of Genetic Testing." Genes 16, no. 5 (2025): 530. https://doi.org/10.3390/genes16050530.
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Background/Objectives: Hypermobile Ehlers–Danlos syndrome (hEDS) is the most common subtype of Ehlers–Danlos syndromes (EDS), a heterogeneous group of hereditary connective tissue disorders. The hallmark features of hEDS include generalized joint hypermobility (GJH), soft or velvety skin, and persistent joint pain. The molecular etiology of hEDS remains unknown, and diagnosis is primarily clinical. The updated diagnostic criteria for hEDS requires the fulfillment of three criteria: (1) GJH, (2) a combination of musculoskeletal and systemic manifestations consistent with a connective tissue disorder, and (3) the exclusion of alternative diagnoses. However, the exclusion process and the role of genetic testing have not yet been fully refined. Methods: This retrospective review utilized data from the Hereditary Connective Tissue Disorders (HCTD) patient registry at the University of Miami, which includes individuals evaluated at the HCTD Clinic using a standardized internal clinical and genetic protocol. We analyzed data from 907 patients referred for hEDS evaluation between June 2019 and December 2022. Results: Among these patients, 178 met the 2017 diagnostic criteria for hEDS. Genetic testing identified an alternative or additional diagnosis in 47 of these individuals (26.4%), with clinical implications requiring distinct management strategies. Conclusions: These findings underscore the importance of criterion three—exclusion of alternative diagnoses—and highlight the critical yet underutilized role of genetic testing in the assessment of joint hypermobility. Furthermore, the results suggest that hypermobility may present a shared phenotype across a spectrum of disorders, including inflammatory diseases, monogenic syndromes, and chromosomal abnormalities.
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Malek, Sabeeha, Emma J. Reinhold, and Gemma S. Pearce. "The Beighton Score as a measure of generalised joint hypermobility." Rheumatology International 41, no. 10 (2021): 1707–16. http://dx.doi.org/10.1007/s00296-021-04832-4.
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AbstractThe Beighton Score (BS) is a set of manoeuvres in a nine-point scoring system, used as the standard method of assessment for Generalised Joint Hypermobility (GJH). It was originally developed as an epidemiological tool used in screening large populations for GJH, but later adopted as a clinical tool for diagnostic purposes. Its ability to truly reflect GJH remains controversial, as joints within the scoring system are predominantly of the upper limb and disregard many of the major joints, preventing a direct identification of GJH. Furthermore, a consistent finding in the literature whereby the BS failed to identify hypermobility in joints outside the scoring system suggests its use as an indirect indicator of GJH is also not viable. As such, the collective findings of this review demonstrate a need for a change in clinical thinking. The BS should not be used as the principle tool to differentiate between localised and generalised hypermobility, nor used alone to exclude the presence of GJH. Greater emphasis should be placed on a clinician’s judgement to identify or exclude GJH, according to its full definition.
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Remvig, Lars, Lise Flycht, Karl B. Christensen, and Birgit Juul-Kristensen. "Lack of consensus on tests and criteria for generalized joint hypermobility, Ehlers-Danlos syndrome: Hypermobile type and joint hypermobility syndrome." American Journal of Medical Genetics Part A 164, no. 3 (2014): 591–96. http://dx.doi.org/10.1002/ajmg.a.36402.
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Russek, Leslie N., Patricia Stott, and Jane Simmonds. "Recognizing and Effectively Managing Hypermobility-Related Conditions." Physical Therapy 99, no. 9 (2019): 1189–200. http://dx.doi.org/10.1093/ptj/pzz078.
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AbstractHypermobility spectrum disorder (HSD) and hypermobile Ehlers-Danlos syndrome (hEDS) can cause widespread or chronic pain, fatigue, and proprioceptive and coordination deficits resulting in functional restrictions. These conditions are common and often unrecognized, and patients are likely to present in physical therapy for musculoskeletal injuries, pain, or coordination deficits. Although physical therapy is considered central to managing these conditions, many patients report pain and iatrogenic injuries due to inappropriate interventions. The diagnostic classification for these conditions was revised in 2017 to supersede previous diagnostic categories of Joint Hypermobility Syndrome and Ehlers-Danlos Syndrome—hypermobility type/type III. It is now known that these conditions affect multiple body systems and not just joints and that patients require a holistic approach. This Perspective article will describe the 2017 diagnostic classification system, clinical presentation, examination, evaluation, and management of patients with HSD/hEDS. Both adult and pediatric cases are presented to illustrate the patient management concepts discussed. This knowledge can lead to more effective management of this patient population.
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Satybaldyev, A., and A. Zhuravleva. "AB1058 JOINT HYPERMOBILITY SYNDROME AND PRIMARY OPEN-ANGLE GLAUCOMA." Annals of the Rheumatic Diseases 79, Suppl 1 (2020): 1819.1–1819. http://dx.doi.org/10.1136/annrheumdis-2020-eular.1004.
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Background:Eye symptoms: myopia, prolapse of the upper eyelid, epiblepharon in the upper eyelid are small diagnostic criteria for joint hypermobility syndrome (JHS).There are few publications in the literature on the relationship between JHS and primary open-angle glaucoma (POAG).It is known that in the development of JHS, the distribution of collagen of types I and III with the predominance of collagen of type III is important, the latter is encoded by the COL3A1 gene. When using POAG in the connective tissue of the middle and deep layers of the sclera by the immunohistochemical method, intense focal accumulation of type I and III collagen was previously revealed, and in the layers of the sclera’s own substance, type III collagen, unusual for it.Objectives:To study articular and extraarticular clinical manifestations, instrumental, laboratory signs, as well as to conduct molecular genetic studies on the carriage of the Col3Al gene in patients with a diagnosis of POAG and compare them.Methods:Nine consecutive patients with an established diagnosis of POAG (burdened heredity by glaucoma) with arthralgia were sent for consultation to the V.A. Nasonova Research Institute of Rheumatology from the Moscow Helmholtz Research Institute of Eye Diseases. All patients are women, the average age is 56.7 ± 10.5 years, the average Beighton score - 4.86 ± 1.7, the mean value of the Westergren ESR - 11,8 ± 5.1 mm/h, CRPhs- 4.9 ± 9.4 mg / 1, all of them were seronegative for rheumatoid factor (RE) and ACCP. All patients responded to the JHS diagnosis according to the 1998 Brighton diagnostic criteria. DNA was isolated from the leukocyte fraction of venous blood using the Wizard DNA Purification Kit (Promega) according to the manufacturer’s instructions. The study of gene polymorphisms was performed by the method of minisequencing with subsequent time-of-flight mass spectrometry of a sample on a matrix (MALDI-TOF) in the clinical diagnostic laboratory of NPF L1TEX LLC using a standard protocol (Wise C.A., 2003).Results:9 patients had arthralgia, 8 - vertebralgia, 3 - myalgia. 2 had a history of wrist joint dislocation, 7 had flat feet (3 of them had Hallucis valgus), 5 had spondylosis and spondylolisthesis (protrusions and disc herniation according to MRI of the spine), and 4 had excessive skin and / or striate atrophy of skin. Extraarticular manifestations: mitral valve prolapse was detected in 3 patients (in 1 of them + atrial septal defect) with ultrasound of the heart, in 3 - descent of the internal organs (nephroptosis, uterine prolapse), in 4 - pronounced varicose veins of the lower extremities. All patients had a carrier state of the A allele identified by marker C.2092G> A and C allele c.2244T> C of the COL3A1 gene, and a family history of glaucoma. Identification of compliance with JHS diagnostic criteria and the presence of genetic factors (COL3A1 gene) in patients with POAG is of great scientific importance, since it confirms not only clinical associations, but also the genetic proximity of these two conditions. It is also difficult to overestimate the practical value, since patients with POAG need the help of a doctor in the treatment of their articular and other non-ophthalmological manifestations of JHS, and establishing a diagnosis of JHS will require a more thorough examination of the eyes in terms of detecting POAG, its treatment or prevention.Conclusion:The association of JHS, POAG and COL3A1 gene necessitates further study of the association of JHS and POAG: POAG as a clinical manifestation of JHS, on the one hand, and the role of JHS as a possible risk factor for the development of POAG - on the other hand.Table 1.Demographic, clinical and laboratory characteristics of patients with Schnitzler’s syndromePtsThe age (y)The age at onset (y)Diagnosis delay (y)ESR (<15 mm/h)СRP (<6g/l)M-gradient (g/l)AnakinraCanakinumabThe treatment duration (y)151404311077,1015253282240295,7000336293140447,80134585331001927,6110,556966249965,1110,5Abbreviations: Pts – patients, y- years, ESR – erythrocyte sedimentation rate, CRP – C-reactive proteinDisclosure of Interests:None declared
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Camerota, Filippo, Rachele Mariani, Giulia Cordiano, et al. "The Language of Pain in the Hypermobile Ehlers–Danlos Syndrome: Metaphors as a Key to Understanding the Experience of Pain and as a Rehabilitation Tool." Brain Sciences 13, no. 7 (2023): 1042. http://dx.doi.org/10.3390/brainsci13071042.
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Ehlers–Danlos syndromes are a heterogeneous group of Heritable Connective Tissue Disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Among the different types, the hypermobile Ehlers–Danlos syndrome is the most frequent and includes generalized joint hypermobility as the major diagnostic criterion. Joint hypermobility in hypermobile Ehlers–Danlos syndrome is often associated with pain that does not always allow the use of effective pain-reducing treatments. Patients with hEDS constantly describe their pain in detail. Eighty-nine patients with hEDS diagnoses were recruited and evaluated. They were asked to describe their pain in writing. The texts were examined through Linguistic Inquiry and Word Count. Correlational analyses were conducted between pain perception and language. A comparison of high/low pain perception and the quality of metaphors was carried out. The results showed that language quality varies depending on how much pain is perceived. The greater the pain is perceived, the lesser the positive effects and the greater the negative effects and dehumanizing metaphors are being used. Moreover, a greater pain seems to be related to a verbal experience of greater isolation and less self-care. In conclusion, the use of metaphors is a useful tool for examining illness experience and may help clinicians in the rehabilitation program.
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Liu, Fang-Chun, Jong-Ling Fuh, Yen-Feng Wang, and Shuu-Jiun Wang. "Connective tissue disorders in patients with spontaneous intracranial hypotension." Cephalalgia 31, no. 6 (2011): 691–95. http://dx.doi.org/10.1177/0333102410394676.
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Objective: Spontaneous intracranial hypotension (SIH) is caused by spinal cerebrospinal fluid (CSF) leakage. An underlying connective tissue disorder has been hypothesized to cause dural weakness and predisposition to CSF leak. We conducted a case-controlled study to investigate the role of connective tissue disorders in SIH patients. Methods: We recruited 55 consecutive SIH patients (38 F, 17 M; mean age, 40.8 ± 9.8 years) and 55 age- and sex-matched control individuals (mean age, 38.0 ± 8.9 years) for this study. The connective tissue disorders were evaluated by: (i) Beighton hypermobility scores and revised diagnostic criteria for benign joint hypermobility syndrome; (ii) skin and skeletal manifestations of Ehlers–Danlos syndrome (EDS); and (iii) skeletal features of Marfan syndrome. Results: The frequencies of joint hypermobility according to Beighton scores >4/9 (SIH 23.6% vs controls 16.4%, P = 0.48) and revised benign joint hypermobility syndrome criteria (SIH 23.6% vs controls 34.5%, P = 0.29) did not differ between SIH patients and controls. Sixteen patients and 16 controls had one or more skin features of EDS ( P = 1.0). Nine SIH patients (16.4%) demonstrated the skeletal features of Marfan syndrome; this frequency did not differ from that of the control group (9.1%; P = 0.262). Only dolichostenomelia (disproportionately long limbs) was more prominent in SIH patients than in controls (34.5% vs 9.1%; P = 0.002). Conclusion: Compared with Western studies, the frequencies of connective tissue disorders were higher in our SIH patients. However, these frequencies did not differ between SIH patients and control individuals, except for dolichostenomelia.
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Castori, Marco. "Ehlers-Danlos Syndrome, Hypermobility Type: An Underdiagnosed Hereditary Connective Tissue Disorder with Mucocutaneous, Articular, and Systemic Manifestations." ISRN Dermatology 2012 (November 22, 2012): 1–22. http://dx.doi.org/10.5402/2012/751768.
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Ehlers-Danlos syndrome, hypermobility type, constituting a phenotypic continuum with or, perhaps, corresponding to the joint hypermobility syndrome (JHS/EDS-HT), is likely the most common, though the least recognized, heritable connective tissue disorder. Known for decades as a hereditary condition with predominant rheumatologic manifestations, it is now emerging as a multisystemic disorder with widespread manifestations. Nevertheless, the practitioners’ awareness of this condition is generally poor and most patients await years or, perhaps, decades before reaching the correct diagnosis. Among the various sites of disease manifestations, skin and mucosae represent a neglected organ where the dermatologist can easily spot diagnostic clues, which consistently integrate joint hypermobility and other orthopedic/neurologic manifestations at physical examination. In this paper, actual knowledge on JHS/EDS-HT is summarized in various sections. Particular attention has been posed on overlooked manifestations, including cutaneous, mucosal, and oropharyngeal features, and early diagnosis techniques, as a major point of interest for the practicing dermatologist. Actual research progresses on JH/EDS-HT envisage an unexpected link between heritable dysfunctions of the connective tissue and a wide range of functional somatic syndromes, most of them commonly diagnosed in the office of various specialists, comprising dermatologists.
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Grochala, Justyna, Dominik Grochala, Marcin Kajor, Joanna Iwaniec, Jolanta E. Loster, and Marek Iwaniec. "A Novel Method of Temporomandibular Joint Hypermobility Diagnosis Based on Signal Analysis." Journal of Clinical Medicine 10, no. 21 (2021): 5145. http://dx.doi.org/10.3390/jcm10215145.
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Despite the temporomandibular joint (TMJ) being a well-known anatomical structure its diagnosis may become difficult because physiological sounds accompanying joint movement can falsely indicate pathological symptoms. One example of such a situation is temporomandibular joint hypermobility (TMJH), which still requires comprehensive study. The commonly used official research diagnostic criteria for temporomandibular disorders (RDC/TMD) does not support the recognition of TMJH. Therefore, in this paper the authors propose a novel diagnostic method of TMJH based on the digital time–frequency analysis of sounds generated by TMJ. Forty-seven volunteers were diagnosed using the RDC/TMD questionnaire and auscultated with the Littmann 3200 electronic stethoscope on both sides of the head simultaneously. Recorded TMJ sounds were transferred to the computer via Bluetooth® for numerical analysis. The representation of the signals in the time–frequency domain was computed with the use of the Python Numpy and Matplotlib libraries and short-time Fourier transform. The research reveals characteristic time–frequency features in acoustic signals which can be used to detect TMJH. It is also proved that TMJH is a rare disorder; however, its prevalence at the level of around 4% is still significant.
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FARMER, ADAM D., HATTY DOUTHWAITE, SAM GARDINER, QASIM AZIZ, and RODNEY GRAHAME. "A Novelin VivoSkin Extensibility Test for Joint Hypermobility." Journal of Rheumatology 37, no. 7 (2010): 1513–18. http://dx.doi.org/10.3899/jrheum.091192.
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Objective.The stress/strain curve derived from stretching skin is not linear, but follows a J-shaped curve. An initial generous yield is followed by a steep linear phase where considerable additional force is required to achieve modest increases in deformation. The former represents the taking up of slack resulting from the alignment of dermal collagen bundles in the line of force, while the gradient of the latter represents Young’s modulus for skin. Skin hyperextensibility in Ehlers-Danlos syndrome (EDS) is limited to the initial phase of taking up slack. Skin hyperextensibility and joint hypermobility (JHM) form part of the Revised 1998 Brighton diagnostic criteria for the benign joint hypermobility syndrome (BJHS), considered by many to be akin to EDS-hypermobility type. JHM may be screened for using the Beighton Score or a 5-point questionnaire. Our aim was to validate a novel method of measuring skin extensibility based on these observations in addition to revalidating the 5-point questionnaire.Methods.250 volunteers (131 female), median age 39 years (range 18–89 yrs), without BJHS, had their joint mobility evaluated using the Beighton Score, compared to the 5-point questionnaire. A Beighton score ≥ 4/9 was considered to represent JHM. Skin extensibility was determined by placing 2 dots on the dorsum of the right hand between the second and third metacarpals, approximately 10 mm apart, and was measured using an electronic caliper. Perpendicular to the metacarpals, a force was applied until the skin was fully taut and the increment was measured. Skin-fold thickness was measured using a Harpenden caliper. A corrected skin extensibility score (CSES) was calculated by dividing the percentage increment by skin thickness. Interobserver variability was measured in a further 50 healthy volunteers.Results.The prevalence of JHM was 17.6%. Revalidation of the 5-point questionnaire returned a sensitivity of 0.85 and specificity of 0.85. The mean CSES was 23.84%/mm in the hypermobile group versus 13.55%/mm in the normal mobility group (p < 0.0001). CSES sensitivity was 0.72, specificity 0.75. The κ value for interobserver variability was 0.83.Conclusion.The CSES is a useful and reproducible measure of skin extensibility in health. Further work is warranted to validate this test in patients with BJHS.
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Benda, Petr, Tereza Nováková, and Lenka Žáková. "Clinical evaluation of shoulder ROM in volleyball and handball players in youth categories." AUC KINANTHROPOLOGICA 57, no. 2 (2021): 173–84. http://dx.doi.org/10.14712/23366052.2021.11.
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Aims. The aim of this study was to clarify whether volleyball and handball players, as representatives of the so-called overhead athletes, already have an increased ROM and specific local hypermobility in the shoulder joints in the junior categories. These changes are described by goniometric measurements and hypermobility tests according to Sachse and Beighton. The results are examined with respect to gender and sport specialization. Methods. Ninety-five subjects without previous shoulder joint injury aged 16 to 19 years, including 73 volleyball and handball players, were tested. The cohort included 33 men, 40 women, 34 handball players and 39 volleyball players. The control group consisted of 22 participants, including 11 men and 11 women. The majority (90.5%) of the study participants were right-hand dominant. Only 9.5% of the participants were left-handed. Measurements were taken with a goniometer with digital display and hypermobility tests according to Sachse and Beighton. Results. In a selected group of volleyball and handball players, the ROM of the shoulder joints of the dominant arm was significantly greater in three ways: into extension, horizontal adduction and external rotation. On the other hand, the ROM of their shoulder joints in internal rotation is smaller and the research group has significant hypermobility in the glenohumeral (scapulohumeral) joint compared to the control group. Our study showed that females compared to males playing volleyball and handball have a significantly higher degree of internal rotation of both dominant and non-dominant arms. No significant differences were found when comparing volleyball and handball players. The difference in ROM between the dominant and non-dominant arms of volleyball and handball players was shown in extension and external rotation.
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Celletti, Claudia, Marco Castori, Giuseppe La Torre, and Filippo Camerota. "Evaluation of Kinesiophobia and Its Correlations with Pain and Fatigue in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type." BioMed Research International 2013 (2013): 1–7. http://dx.doi.org/10.1155/2013/580460.
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Ehlers-Danlos syndrome hypermobility type a. k. a. joint hypermobility syndrome (JHS/EDS-HT) is a hereditary musculoskeletal disorder associating generalized joint hypermobility with chronic pain. Anecdotal reports suggest a prominent role forkinesiophobiain disease manifestations, but no study has systematically addressed this point.Objective. To investigate the impact ofkinesiophobiaand its relationship with pain, fatigue, and quality of life in JHS/EDS-HT.Design. Cross-sectional study.Subjects/Patients. 42 patients (40 female and 2 male) with JHS/EDS-HT diagnosis following standardized diagnostic criteria were selected.Methods. Disease features were analyzed by means of specific questionnaires and scales evaluating kinesiophobia, pain, fatigue, and quality of life. The relationships among variables were investigated using the Spearman bivariate analysis.Results.Kinesiophobiaresulted predominantly in the patients’ sample. The values ofkinesiophobiadid not correlate with intensity of pain, quality of life, and (or) the single component of fatigue. A strong correlation was discovered betweenkinesiophobiaand general severity of fatigue.Conclusions. In JHS/EDS-HT, the onset of pain-avoiding strategies is related to the presence of pain but not to its intensity. The clear-cut correlation betweenkinesiophobiaand severity of fatigue suggests a direct link between musculoskeletal pain and fatigue. In JHS/EDS-HT, the underlying mechanism is likely to be facilitated by primary disease characteristics, including hypotonia.
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Celletti, Claudia, Filippo Camerota, Marco Castori, et al. "Orthostatic Intolerance and Postural Orthostatic Tachycardia Syndrome in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome, Hypermobility Type: Neurovegetative Dysregulation or Autonomic Failure?" BioMed Research International 2017 (2017): 1–7. http://dx.doi.org/10.1155/2017/9161865.
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Background. Joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type (JHS/EDS-HT), is a hereditary connective tissue disorder mainly characterized by generalized joint hypermobility, skin texture abnormalities, and visceral and vascular dysfunctions, also comprising symptoms of autonomic dysfunction. This study aims to further evaluate cardiovascular autonomic involvement in JHS/EDS-HT by a battery of functional tests.Methods. The response to cardiovascular reflex tests comprising deep breathing, Valsalva maneuver, 30/15 ratio, handgrip test, and head-up tilt test was studied in 35 JHS/EDS-HT adults. Heart rate and blood pressure variability was also investigated by spectral analysis in comparison to age and sex healthy matched group.Results. Valsalva ratio was normal in all patients, but 37.2% of them were not able to finish the test. At tilt, 48.6% patients showed postural orthostatic tachycardia, 31.4% orthostatic intolerance, 20% normal results. Only one patient had orthostatic hypotension. Spectral analysis showed significant higher baroreflex sensitivity values at rest compared to controls.Conclusions.This study confirms the abnormal cardiovascular autonomic profile in adults with JHS/EDS-HT and found the higher baroreflex sensitivity as a potential disease marker and clue for future research.
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Savage, GK, JLL Csecs, G. Davies, HD Critchley, and JA Eccles. "#3085 Relationship between variant connective tissue (hypermobility) and autism sensory processing: externally oriented thinking as a mediator." Journal of Neurology, Neurosurgery & Psychiatry 92, no. 8 (2021): A7.2—A8. http://dx.doi.org/10.1136/jnnp-2021-bnpa.19.
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Objectives/AimsAutism is a neurodevelopmental condition characterised by differences in sensory processing, social communication and restricted/repetitive behaviors. Joint hypermobility is a common connective tissue variant, reportedly overrepresented in Autism. Alexithymia is a personality construct characterised by altered emotional awareness which has notably high rates of overlap with autism spectrum disorder. This study tested whether hypermobility was associated with autistic traits and examined alexithymia as a mediator of this association.MethodForty-two people underwent eligibility assessment for a study of joint hypermobility and anxiety (ISRCTN17018615). Hypermobility was assessed using both the Brighton Criteria for Joint Hypermobilty Syndrome (JHS) and 2017 Hypermobile Ehlers Danlos Syndrome (hEDS) Criteria. Participants completed the Ritvo Autism Asperger Diagnostic Scale-Revised (RAADS R: sensory/motor, language, social relatedness and circumscribed interest domains) to quantify autistic traits. No participant had a prior diagnosis of Autism. Participants also completed the Toronto Alexithymia Scale (TAS-20) to measure alexithymia. The TAS-20 has three domains: difficulty describing feelings, difficulty identifying feelings and externally oriented thinking.ResultsAll 42 participants met criteria for JHS, 26 participants also met criteria for hEDS. Strikingly, 22/42 (52.4%) scored above threshold for suspected Autism (26/42 in the sensory/motor domain; 22/42 in language domain; 22/42 in social relatedness domain; 17/42 in circumscribed interests domain). There were no significant differences in RAADS-R scores depending on hypermobility diagnosis. The number of connective tissue features (hEDS Criterion 2A) correlated with RAADS-R sensory/motor score (r = 0.418, p = 0.006) but not social relatedness nor circumscribed interests sub-scores. Full mediation of the relationship between the number of connective tissue features and RAADs sensory/motor score by TAS-20 externally oriented thinking was found using the method of Baron-Kenny (1986) and estimation of indirect effects (Hayes, 2018; bootstrapped confidence intervals (n = 5000, do not cross zero)). Difficulty identifying feelings and difficulty describing feelings domains did not mediate this relationship.ConclusionThese results add to evidence linking variant connective tissue to neurodevelopmental conditions (including Autism) and interestingly, specifically to sensory processing differences. Our study provides a strong rationale for screening for neurodevelopmental conditions in people with hypermobility and motivates further to understand symptom expression in this group. Our results also provide an insight into the processes underlying this relationship, which maybe important for informing interventions for people with hypermobility and autistic traits.
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Barišić, N., and R. Kuzmanić-Šamija. "Guidelines of the Croatian Society of Pediatric Neurology for the diagnosis of floppy infant." Paediatria Croatica 56, no. 2 (2012): 165–69. http://dx.doi.org/10.13112/pc.751.
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Floppy infant syndrome is a common diagnostic problem in newborns and infants. Clinical diagnosis is based on restriction of spontaneous motor activity, joint hypermobility and lack of resistance on passive movement examination. Floppy infant syndrome may be caused by the central nervous system, neuromuscular, connective tissue, endocrinological, chromosomal, genetic and metabolic disorders. The diagnostic work-up in many instances is often complex and requires multidisciplinary assessment. As the etiology is heterogeneous and diagnostic procedures are complex, rational approach to the diagnostic process is of utmost importance. In this paper, we present recommendations for the evaluation of children with hypotonia depending on the child’s age and clinical picture.
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WATANABE, ATSUSHI, KAZUMI SATOH, TOMOKO MANIWA, and KEN-ICHI MATSUMOTO. "Proteomic analysis for the identification of serum diagnostic markers for joint hypermobility syndrome." International Journal of Molecular Medicine 37, no. 2 (2015): 461–67. http://dx.doi.org/10.3892/ijmm.2015.2437.
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Baban, Anwar, and Marco Castori. "Pharmacological resources, diagnostic approach and coordination of care in joint hypermobility-related disorders." Expert Review of Clinical Pharmacology 11, no. 7 (2018): 689–703. http://dx.doi.org/10.1080/17512433.2018.1497973.
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Loginova, E. N., G. I. Nechaeva, A. N. Dakuko, et al. "Clinical characteristics and assessment of structural and functional myocardium changes in patients with nonspecific connective tissue disorder." Siberian Journal of Clinical and Experimental Medicine 38, no. 4 (2024): 184–92. http://dx.doi.org/10.29001/2073-8552-2023-38-4-184-192.
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Early non-invasive diagnosis of structural changes in the heart plays an important role in optimizing approaches to preventing dangerous rhythm disorders at a young age.Aim: To study the phenotypic features of nonspecifi c connective tissue disorder (NCTD) in relation to the myocardial strain and the level of N-terminal pro-brain natriuretic peptide (NT-proBNP) in patients with cardiac arrhythmias and NCTD.Results. There was an association between a local longitudinal left ventricular (LV) strain and pectus excavatum (r1 = 0.234, p = 0.008), joint hypermobility syndrome (r1 = 0.406, p = 0.026), spinal scoliosis (r1 = 0.266, p = 0.003), mitral valve prolapse (MVP) (r1 = 0.519, p = 0.003), diagnostic threshold of NCTD (r1 = 0.395, p = 0.031) in patients with arrhythmias and NCTD;there was an inverse weak to moderate association of body mass index (BMI) and myocardial strain in a number of LV segments. There was a signifi cant relationship between NT-proBNP and diagnostic threshold of NCTD (r1 = 0.496, p = 0.001), mitral valve prolapse (r1 = 0.469, p = 0.002).Conclusion. Chest deformity, spinal scoliosis, joint hypermobility, mitral valve prolapse and BMI decrease in patients with arrhythmic syndrome and NCTD are associated with the myocardial strain and NT-proBNP level that can be used for the early identifi cation of myocardial remodeling in this patient cohort.
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Armstrong, Ross. "The Beighton Score and Injury in Dancers: A Prospective Cohort Study." Journal of Sport Rehabilitation 29, no. 5 (2020): 563–71. http://dx.doi.org/10.1123/jsr.2018-0390.
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Context: Joint hypermobility has a high prevalence in dancers and may be associated with injury and performance. Objectives: To investigate whether total Beighton score can predict injury and to determine the relationship between joint hypermobility and injury, and to report injury demographics. Design: A prospective cohort injury study. Setting: Edge Hill University dance injury clinic. Participants: Eighty-two dancers (62 females, 20 males). Main Outcome Measures: Joint hypermobility via the Beighton score ≥4 with lumbar flexion included and removed. Results: A total of 61 dancers were classified as hypermobile, which was reduced to 50 dancers with lumbar flexion removed. A significant difference existed between pooled total days injured in hypermobile dancers and nonhypermobile dancers with lumbar flexion included (P = .02) and removed (P = .03). No significant differences existed for total Beighton score between injured and noninjured groups with lumbar flexion included (P = .11) and removed (P = .13). Total Beighton score was a weak predictor of total days injured (r2 = .06, P = .51). In total, 47 injuries occurred in 34 dancers, and pooled injury rate was 1.03 injuries/1000 hours. Receiver operating characteristic curve analysis demonstrated an area under the curve of 0.83 for male dancers with lumbar flexion removed, which was considered diagnostic for injury. Conclusions: The Beighton score can be utilized to identify dancers who may develop injury. Clinicians should consider the role of lumbar flexion in total Beighton score when identifying those dancers at risk of injury. Different injury thresholds in female and male dancers may aid injury management.
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Reddy, Ravi Shankar, Jaya Shanker Tedla, Mastour Saeed Alshahrani, Faisal Asiri, and Venkata Nagaraj Kakaraparthi. "Comparison and correlation of cervical proprioception and muscle endurance in general joint hypermobility participants with and without non-specific neck pain—a cross-sectional study." PeerJ 10 (March 11, 2022): e13097. http://dx.doi.org/10.7717/peerj.13097.
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Background Cervical proprioception and muscle endurance are essential for maintaining cervical functional joint stability. Proprioception and muscle endurance may be impaired in those with general joint hypermobility (GJH). Examining these aspects is crucial. This study’s aims are to (1) compare the cervical joint position error (JPE) and muscle endurance holding capacities in GJH individuals with and without non-specific neck pain (NSNP) (2) to assess the relationship between hypermobility Beighton scores, cervical JPE’s, and muscle endurance in GJH individuals with and without NSNP. Methods In this cross-sectional comparative study, 33 GJH participants with NSNP (mean age 21.7 ± 1.8 years) and 35 asymptomatic participants GJH (mean age 22.42 ± 1.7 years) participated. Beighton’s score of ≥4 of 9 tests was used as criteria to diagnose GJH. Cervical JPEs were estimated in degrees using a cervical range of motion device, and muscle endurance (flexor and extensor) were estimated in seconds using a stopwatch. Results GJH participants with NSNP showed significantly larger cervical JPEs (p < 0.001) and decreased muscle endurance holding times (p < 0.001) compared to asymptomatic participants. Beighton hypermobility scores showed a significant moderate positive correlation with cervical JPEs (flexion: r = 0.43, p = 0.013), left rotation: r = 0.47, p = 0.005, right rotation: r = 0.57, p = 0.001) in NSNP individuals. Also, Beighton hypermobility scores showed a moderate negative correlation with muscle endurance in NSNP (flexor muscles: r = −0.40, p = 0.020, extensor muscles: r = −0.41, p = 0.020, and asymptomatic individuals (flexor muscles: −0.34, p = 0.045, extensor muscles: r = −0.45, p = 0.007). Conclusion GJH individuals with NSNP showed increased cervical JPEs and reduced muscle endurance compared to asymptomatic. Individuals with GJH with higher Beighton scores demonstrated increased cervical JPEs and reduced neck muscle endurance holding ability. In clinical practice, therapists should be aware of these findings, incorporate proprioceptive and muscle endurance assessments, and formulate rehabilitation strategies for NSNP individuals with GJM.
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M. Foehr, Reece, and Erik D. Foehr. "Vascular Ehlers-Danlos Syndrome: Current Understanding and Treatment Strategies." Journal of Rare Diseases Research & Treatment 9, no. 1 (2025): 1–4. https://doi.org/10.29245/2572-9411/2025/1.1218.
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Vascular Ehlers-Danlos Syndrome (vEDS) is a rare and severe subtype of Ehlers-Danlos Syndrome (EDS), a group of inherited disorders affecting connective tissue. Unlike other EDS subtypes primarily characterized by joint hypermobility and skin elasticity, vEDS is distinguished by its impact on the vascular system, posing a significant risk of life-threatening complications1. This review aims to provide a concise overview of vEDS, encompassing its genetic basis, clinical manifestations, diagnostic approaches, and current treatment strategies.
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Pacey, Verity, Roger D. Adams, Louise Tofts, Craig F. Munns, and Leslie L. Nicholson. "Joint hypermobility syndrome subclassification in paediatrics: a factor analytic approach." Archives of Disease in Childhood 100, no. 1 (2014): 8–13. http://dx.doi.org/10.1136/archdischild-2013-305304.
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ObjectiveTo determine if exploratory factor analysis can identify subtypes comprising recognisable clinical patterns of the presenting signs and symptoms of children with joint hypermobility syndrome (JHS).PatientsEighty-nine children with JHS aged 6–16 years.MethodsTwelve tests comprising anthropometric, musculoskeletal and functional assessments were conducted. Signs, symptoms and family history were recorded. Exploratory factor analysis was performed, factor scores generated, and correlations calculated to identify associations.ResultsSixty-six percent of the variance in the score set could be accounted for by five JHS subtypes (Eigenvalues >1). Factor 1, ‘joint affected’ JHS, had loadings on multiple joint pain, recurrent joint instability and postural orthostatic hypotension symptoms, and factor scores were associated with worse pain (r=0.48, p<0.01), fatigue (r=−0.54, p<0.01) and reduced health-related quality of life (HRQOL) (r=−0.5, p<0.01). Factor 2, ‘athletic’ JHS, loaded on muscle endurance, balance and motor skill proficiency, and scores were associated with less fatigue (r=0.3, p<0.01) and better HRQOL (r=0.44, p<0.01). Factor 3, ‘systemic’ JHS, loaded on skin involvement, incontinence symptoms, bowel involvement and recurrent joint instability, and was associated with reduced HRQOL (r=−0.24, p=0.03). Factor 4, ‘soft tissue affected’ JHS, loaded on recurrent soft tissue injuries and reduced muscle length, and was associated with greater fatigue (r=−0.43, p<0.01) and reduced HRQOL (r=−0.44, p<0.0001). Factor 5, ‘high BMI’ JHS, had high loadings on body mass index (BMI) for age, muscle endurance and no gastrointestinal involvement, and was associated with higher pain (r=0.33, p<0.01).ConclusionsThe presenting signs and symptoms of children with JHS can be summarised in five clinically recognisable subtypes.
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Zhdan, V. M., I. V. Ivanitskiy, Khaimenova G. S., and Yu A. Ischeikina. "Indicators of Elasticity of the Iliopsoas Muscle in Patients with Pain in the Lower Part of the Back due to the Manifestation of the Benign Joint Hypermobility Syndrome." Ukraïnsʹkij žurnal medicini, bìologìï ta sportu 5, no. 5 (2020): 142–47. http://dx.doi.org/10.26693/jmbs05.05.142.
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Pain in the lower back is a highly urgent problem that leads to a decrease in the quality of life of a large number of patients in the modern world. At the same time, the causes of pain in the lower back are different and their combination has not been sufficiently studied to date. It is known that the presence of benign joint hypermobility syndrome in a patient significantly worsens the course and manifestations of pain in the lower back. One of the components of pain in the lower back is changes in the iliopsoas muscle. This is psoas syndrome. At the same time, the diagnosis of psoas syndrome in practical medicine is complicated by the lack of specific laboratory tests and imaging techniques. The purpose of this work was to study the possibilities of determining the tension of the iliopsoas muscle using shear wave elastometry in patients with pain syndrome in the lower back and the difference between their tensions depending on the presence of benign hypermobility syndrome in patients. Material and methods. We examined 83 patients with lower back pain aged 42.31±1.54 years, 41 were female and 42 were male. To participate in the study, all patients underwent X-ray and ultrasound examination of the hip joints. Patients were excluded from the study in the presence of signs of osteoarthritis. To determine the presence of signs of hypermobility of the joints, we used the criteria of Baiton; the diagnosis was made on condition of obtaining more than 5 points. Among the patients examined by the Bayton criteria, 18 patients were diagnosed with benign joint hypermobility syndrome, among them 13 women and 5 men. As a control group, we selected 15 patients aged 45.6±1.74 years without complaints of pain in the lumbar region of the back and hips and without signs of benign joint hypermobility syndrome. We used shear wave elastometry to determine the stiffness of the distal parts of the lumbosacral muscle. A visual analog scale of pain (from 1 to 10) was used to determine the severity of the pain syndrome. Conclusion. We found that all patients with complaints of pain in the lower back had a significantly higher tension of the iliopsoas muscle in comparison with the group of conditionally healthy patients. The increase in tension had a strong correlation with the severity of pain syndrome according to the data of the visual analogue scale. Indicators of muscle tissue rigidity did not depend on the presence and severity of benign joint hypermobility syndrome
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Barbosa, Cláudia, Sandra Gavinha, Tânia Soares, Tiago Reis, and Conceição Manso. "Is Generalized Joint Hypermobility Associated with Chronic Painful Temporomandibular Disorders in Young Adults? A Cross-Sectional Study." Journal of Clinical Medicine 14, no. 1 (2024): 44. https://doi.org/10.3390/jcm14010044.
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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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Glans, Martin, Susanne Bejerot, and Mats B. Humble. "Generalised joint hypermobility and neurodevelopmental traits in a non-clinical adult population." BJPsych Open 3, no. 5 (2017): 236–42. http://dx.doi.org/10.1192/bjpo.bp.116.004325.
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BackgroundGeneralised joint hypermobility (GJH) is reportedly overrepresented among clinical cases of attention deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD) and developmental coordination disorder (DCD). It is unknown if these associations are dimensional and, therefore, also relevant among non-clinical populations.AimsTo investigate if GJH correlates with sub-syndromal neurodevelopmental symptoms in a normal population.MethodHakim-Grahame's 5-part questionnaire (5PQ) on GJH, neuropsychiatric screening scales measuring ADHD and ASD traits, and a DCD-related question concerning clumsiness were distributed to a non-clinical, adult, Swedish population (n=1039).ResultsIn total, 887 individuals met our entry criteria. We found no associations between GJH and sub-syndromal symptoms of ADHD, ASD or DCD.ConclusionsAlthough GJH is overrepresented in clinical cases with neurodevelopmental disorders, such an association seems absent in a normal population. Thus, if GJH serves as a biomarker cutting across diagnostic boundaries, this association is presumably limited to clinical populations.
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Wang, Tina J., Antonio Stecco, Alan J. Hakim, and Robert Schleip. "Fascial Pathophysiology in Hypermobility Spectrum Disorders and Hypermobile Ehlers–Danlos Syndrome: A Review of Emerging Evidence." International Journal of Molecular Sciences 26, no. 12 (2025): 5587. https://doi.org/10.3390/ijms26125587.
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Hypermobile Ehlers–Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) are increasingly recognized as complex, multisystem connective tissue disorders characterized by joint hypermobility and instability, chronic pain, autonomic dysfunction, immune dysregulation, and structural fragility. Despite their clinical impact and prevalence, the underlying pathophysiology remains poorly understood, and diagnosis is frequently delayed or missed altogether. Emerging research highlights the fascia as a central player in the pathogenesis of these conditions. This narrative review synthesizes current molecular, histological, and biomechanical findings to propose a fascia-centered framework for understanding hEDS and HSD. Evidence from transcriptomic and imaging studies reveals consistent abnormalities in fascial thickness, interfascial gliding, myofibroblast activation, tendon elongation, and tissue stiffness—findings that mirror the functional impairments reported in clinical populations. We explore fascia as a dynamic tissue network and consider how dysregulation in these processes may contribute to the widespread symptoms seen in hypermobility disorders. By reframing hEDS and HSD as disorders of pathological fascial remodeling, this review offers an integrated model that connects molecular mechanisms with clinical expression. It underscores the urgent need for multidisciplinary research to define diagnostic biomarkers, clarify therapeutic targets, and support the development of more effective, personalized interventions.
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Colombi, Marina, Chiara Dordoni, Nicola Chiarelli, and Marco Ritelli. "Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders." American Journal of Medical Genetics Part C: Seminars in Medical Genetics 169, no. 1 (2015): 6–22. http://dx.doi.org/10.1002/ajmg.c.31429.
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Ituen, Oluwakemi A., Jacques Duysens, Gillian Ferguson, and Bouwien Smits-Engelsman. "The strength of balance: Strength and dynamic balance in children with and without hypermobility." PLOS ONE 19, no. 6 (2024): e0302218. http://dx.doi.org/10.1371/journal.pone.0302218.
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Background Generalized Joint hypermobility (GJH) is predominantly non-symptomatic. In fact, individuals with joint flexibility usually perform better than their non-hypermobile counterparts during physical activities. Notwithstanding, strength and balance are essential to maintain the control of the extra range of motion during activities and to prevent musculoskeletal complications. There are limited and conflicting pieces of evidence in literature regarding the association between strength and balance in children with GJH. Objectives The purpose of this study was to examine differences in functional strength, dynamic balance, proprioception, and isometric strength in children with and without joint hypermobility and determine the association between strength outcomes and dynamic balance. Method A cross-sectional study was conducted among children aged 6 to 11. Hypermobility was determined using the Beighton Score, with scores ≥6 representing hypermobility. Functional strength was assessed with the Functional Strength Measure (FSM), isometric strength was determined with a handheld dynamometer (HHD), the Y-Balance Test (YBT) was used to assess dynamic balance and the Wedges test to measure proprioception. Results This study included 588 participants (age: 7.97 ± 1.3 years; height: 128±10.1 cm; mass: 27.18 ± 7.98 kg). 402 children were classified as having normal mobility and 186 as being hypermobile. Hypermobile children had better functional strength in the lower extremities than children with normal range mobility but lower reach distance in the YBT. No differences in proprioception, functional strength of the upper extremity or isometric strength in the hands were found. However, isometric lower extremity force was less in hypermobile children than children with normal range mobility. Irrespective of their joint mobility, a fair significant correlation existed between total Y-balance distance and FSM items r = 0.16–0.37, p = 0.01. Correlations between total Y-balance distance and isometric strength of knee and ankle muscles ranged between r = 0.26–0.42, p = 0.001. Conclusion Hypermobile joints seem to co-occur with lower extremity isometric strength, more functional strength in the lower extremities and less reaching distance in dynamic balance. The opposing direction of the results on functional and isometric strength tests highlights the importance of the type of outcome measures used to describe the association of strength and the range of motion.
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Lapi, E., A. Cecconi, M. L. Giovannucci Uzielli, N. Salfi, and L. Guarino. "3-M Syndrome Clinical Phenotype is Still the Only Mean for Prenatal and Postnatal Diagnosis." Acta geneticae medicae et gemellologiae: twin research 45, no. 1-2 (1996): 293. http://dx.doi.org/10.1017/s0001566000001495.
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In 1975, Miller, McKusick, Malvaux et al. reported a new form of low-birth weight dwarfism with normal intelligence, later called 3-M syndrome (after the initials of the first three authors). As of 1994 about 30 cases have been reported from different ethnic groups. The recurrence of the syndrome in sibs, with normal parents, provides evidence for an autosomal recessive disorder (MIM *273750). Diagnostic criteria are: prenatal onset dwarfism, dolicocephaly, joint hypermobility, slenderness of the shafts of the long bones and ribs and foreshortening of lumbar vertebral bodies, abnormal small pelvis, short femoral necks and vertical talus.We report the occorrence of 3-M syndrome in two new unrelated families; the long follow-up offers important subjects for discussion.In the first family the proposita at birth showed a Larsen-like phenotype with flat face, very short stature and generalized joint hypermobility. The clinical aspects greatly changed in the years and we were able to give the diagnosis of 3-M syndrome when she was 15 years old.In the second family the propositus was a boy, showing obvious features since his birth: mild joint hypermobility, omphalocele, bilateral inguinal hernia and macrocephaly. At the age of 7 years the phenotype is still highly significant.Two subsequent fetuses in the same sibship have been demonstrated affected by 3-M syndrome. The diagnosis was made after the 20th gestation week by means of ecography, and was confirmed after the termination, by both clinical and X-ray examination. Fetal parameters were not significant in the earlier stages of gestation. Of special interest are some-radiological aspects in both parents, whose stature is in the low normal range.A search in the church registry, going back to 1704, revealed no parental consanguinity, but the same family name is present in both paternal and maternal pedigrees.
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Mikalauskaitė, Rosita, Algė Daunoravičienė, Ernesta Aukštuolytė – Bačienė, Vilma Tamulionytė, and Erenesta Gurskienė. "Assessment of Dynamic Balance, Muscle Strength and Pain in Young Women with Generalized Joint Hypermobility." Baltic Journal of Sport and Health Sciences 1, no. 132 (2024): 20–26. https://doi.org/10.33607/bjshs.v1i132.1497.
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This research aims to assess dynamic balance, muscle strength, and pain in young women with generalized jointhypermobility.Research methods: A cross-sectional research design was used in this study. The Beighton scale was used toassess joint hypermobility; the Y test was performed to assess injury risk; a hand-held dynamometer was applied toassess upper extremities’ muscle strength; the McGill tests were used for evaluation of the endurance of trunk muscles’ strength; a numeric analog scale and pain map were used to assess pain intensity and localization.Participants: Twenty-fve young females (age: 22(18–28; 21,16) years; body mass index: (23, 19,2–24, 23,2)kg/m²) participated in this study.Results: The median Beighton score value was 7 (4-9;7.48) points. The Y balance test revealed that 36% (n=9)of the participants were at risk of injury when standing on the dominant leg, and 64% (n=16) when standing on thenon-dominant leg. 64% (n=16) of the young women had a normal grip strength of the dominant hand, and 56%(n=14) had normal non-dominant handgrip strength. Only 20% (n=5) of young women with joint hypermobility hadan abdominal-to-back muscle strength endurance ratio within the normal range and lateral muscle endurance ratiowas within the normal range only in 16% of women.Conclusions: Our pilot study showed that young women with joint hypermobility have reduced hand musclestrength, an imbalance in trunk muscle static endurance and an increased risk of injury in more than half of the subjects. As many as 76% of the young women in this study reported experiencing pain in different areas of the body.Keywords: increased range of movement, fitness, injury risk .
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Guerrieri, Viviana, Alberto Polizzi, Laura Caliogna, et al. "Pain in Ehlers–Danlos Syndrome: A Non-Diagnostic Disabling Symptom?" Healthcare 11, no. 7 (2023): 936. http://dx.doi.org/10.3390/healthcare11070936.
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Background: Ehlers–Danlos syndrome (EDS) is a phenotypically and genetically heterogeneous group of connective tissue disorders. Currently, diagnosis of EDS is based on a series of clinical and genetic tools. On the other hand, the hypermobile form has not yet been characterized from a genetic point of view: it is considered a part of a continuous spectrum of phenotypes, ranging from isolated non syndromic joint hypermobility, through to the recently defined hypermobility spectrum disorders (HSD). The aim of this study is to characterize the pain symptom that is not considered among the diagnostic criteria but is relevant to what concerns the quality of life of patients with EDS. (2) Methods: A review of the literature was performed on two medical electronic databases (PubMed and Embase) on 20 December 2022. Study selection and data extraction were achieved independently by two authors and the following inclusion criteria were determined a priori: published in the English language and published between 2000 and 2022. (3) Results: There were fifty eligible studies obtained at the end of the search and screen process. Pain is one of the most common symptoms found in Ehlers–Danlos (ED) patients. Different causes seem to be recognized in different phases of the syndrome. (4) Conclusions: Pain is a nonspecific symptom and cannot be considered among the diagnostic criteria, but it is a negative predictive factor in the quality of life of patients with EDS. Therefore, proper evaluation and treatment is mandatory.
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Martin, J. "A Critical Analysis of the Perioperative Management of Patients with Ehlers Danlos Type IV (Vascular) Syndrome." Journal of Perioperative Practice 27, no. 9 (2017): 196–99. http://dx.doi.org/10.1177/175045891702700904.
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This paper discusses the perioperative care needs of patients with Ehlers Danlos type IV (vascular) syndrome. Ehlers Danlos syndrome (EDS) is a heritable group of connective tissue disorders characterised by varying degrees of tissue, blood vessel and internal organ fragility as well as skin and joint hypermobility (De Paepe & Malfait 2012). In 1997 EDS was revised and classified into six subtypes: classical (Types I and II), hypermobility, vascular (Type IV), kyphoscoliosis and arthrochalasia type. Each classification has been based on the following aspects: diagnostic uniformity, natural history, management, genetics, and the identification of potential areas for research (Beighton et al 1998). Vascular type EDS has serious implications for any form of surgical procedure and it is therefore imperative that theatre staff are fully conversant with the needs of this patient group. Overall awareness needs to be increased, particularly as most patients will most frequently be seen in an emergency situation, as elective procedures are avoided as far as possible.
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Maryczkanicz, Joanna, and Katarzyna Weber–Nowakowska. "Relations between the occurrence of hypermobility and gender in the group of children aged 6 - 10 years." Journal of Education, Health and Sport 8, no. 1 (2018): 163–72. https://doi.org/10.5281/zenodo.1219509.
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<strong>Maryczkanicz Joanna, Weber–Nowakowska Katarzyna. Relations between the occurrence of hypermobility and gender in the group of children aged 6 - 10 years. Journal of Education, Health and Sport. 2018;8(1):163-172. eISSN 2391-8306. DOI </strong><strong>http://dx.doi.org/10.5281/zenodo.1162360</strong> <strong>http://ojs.ukw.edu.pl/index.php/johs/article/view/5228</strong> <strong>The journal has had 7 points in Ministry of Science and Higher Education parametric evaluation. Part B item 1223 (26.01.2017).</strong> <strong>1223 Journal of Education, Health and Sport eISSN 2391-8306 7</strong> <strong>© The Authors 2018;</strong> <strong>This article is published with open access at Licensee Open Journal Systems of Kazimierz Wielki University in Bydgoszcz, Poland</strong> <strong>Open Access. This article is distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium,</strong> <strong>provided the original author(s) and source are credited. This is an open access article licensed under the terms of the Creative Commons Attribution Non Commercial License</strong> <strong>(http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted, non commercial use, distribution and reproduction in any medium, provided the work is properly cited.</strong> <strong>This is an open access article licensed under the terms of the Creative Commons Attribution Non Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted, non commercial</strong> <strong>use, distribution and reproduction in any medium, provided the work is properly cited.</strong> <strong>The authors declare that there is no conflict of interests regarding the publication of this paper.</strong> <strong>Received: 02.01.2018. Revised: 15.01.2018. Accepted: 31.01.2018.</strong> <strong>Relations between the occurrence of hypermobility and gender in the group of children aged 6 - 10 years</strong> <strong>Joanna Maryczkanicz<sup>1</sup>, Katarzyna Weber–Nowakowska<sup>2</sup></strong> <strong><sup>1</sup></strong><strong>Physiotherapy student, Pomeranian University of Medical Science</strong> <strong><sup>2</sup></strong><strong>Department of Musculoskeletal System Rehabilitaton, Pomeranian University of Medical Science</strong> Adress for corespondence Dr n. zdr. Katarzyna Weber–Nowakowska, Department of Musculoskeletal System Rehabilitaton, Pomeranian University of Medical Science . katarzyna.weber@pum.edu.pl <strong>Summary:</strong> Introduction:Hypermobility of joints in healthy people may be either acquired or congenital be a symptom of a connective tissue disorder such as Marfan syndrome, osteogenesis imperfecta, or Ehler-Danlos syndrome. If that occurs increased joint mobility does not have the characteristics previously mentioned teams innate, it may indicate the presence of articular hypermobility. Hypermobility otherwise called excessive joint laxity or increased their chattel. This dysfunction is based on a wider range of movement in large and small joints relative to the standards for age, gender and race, in the absence of rheumatic diseases. The aim of the study was to evaluate the relationship between hypermobility and gender of the children aged 6 - 10 years. Materials and Methods: The study was conducted in November and December 2017, in two primary schools in Szczecin. Studied 66 children, whose average age was 7 years and 10 months. To assess the prevalence of hypermobility used Beighton scale. It consists of preparation of 5 steps: slope forward from the position the hand flat on the floor, the passive hyperextension V above the finger 90, the passive thumb adduction to the volar side of the forearm hyperextension elbow joint and knee joint. The maximum number of points available is a ninth score 4 points or more indicates presence of hypermobility. Results: The results of 4 points or above on a scale Beighton was observed in 24 of 66 children. Boys was 10, and girls 14. Among girls male person with hypermobility accounted for 30.30%, and among female patients with hypermobility was 42.42% . Conclusions: There was an increased incidence of joint mobility of females than males. The need for screening tests in that group of children was also highlighted. <strong>Keywords</strong>: hypermobility, sex, children, Beighton scale, physiotherapy