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Marco Castori - One of the best experts on this subject based on the ideXlab platform.
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Joint Hypermobility in children: a neglected sign needing more attention.
Minerva pediatrica, 2020Co-Authors: Marco CastoriAbstract:Joint Hypermobility refers to the ability that a Joint has to move beyond its normal range of motion. It is common in the general population, particularly in children. While many individuals manifesting Joint Hypermobility are healthy, this feature can accompany a wide range of symptoms and systemic disorders, whose management can be influenced by their prompt recognition. Given the increasing attention that Joint Hypermobility is attracting in various fields of medicine, many practitioners are asked to approach more carefully Joint Hypermobility, in order to avoid over- and under-diagnosis of related disorders. Among the most common conditions featuring Joint Hypermobility there are Hypermobility spectrum disorders and hereditary connective tissue disorders, in particular, the Ehlers-Danlos syndromes. In children, Joint Hypermobility also accompany a variety of disorders affecting neurodevelopment. The nature of such an association is protean, as Joint Hypermobility may occur in selected congenital neuromuscular disorders, monogenic multiple malformation/intellectual disability syndromes, and well-known and emerging genomic syndromes. In addition, Joint Hypermobility seems strongly associated with developmental coordination disorders. This review offers an overview on definitions, assessment procedures, patterns of associated manifestations and disorders related to Joint Hypermobility, as well as treatment principles of associated musculoskeletal pain for practitioners that are not familial with this issue but encounter people featuring this physical attribute in their daily activity.
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a framework for the classification of Joint Hypermobility and related conditions
American Journal of Medical Genetics Part C-seminars in Medical Genetics, 2017Co-Authors: Marco Castori, Brad T. Tinkle, Howard P. Levy, Rodney Grahame, Fransiska Malfait, Alan HakimAbstract:In the last decade, growing attention has been placed on Joint Hypermobility and related disorders. The new nosology for Ehlers-Danlos syndrome (EDS), the best-known and probably the most common of the disorders featuring Joint Hypermobility, identifies more than 20 different types of EDS, and highlights the need for a single set of criteria to substitute the previous ones for the overlapping EDS Hypermobility type and Joint Hypermobility syndrome. Joint Hypermobility is a feature commonly encountered in many other disorders, both genetic and acquired, and this finding is attracting the attention of an increasing number of medical and non-medical disciplines. In this paper, the terminology of Joint Hypermobility and related disorders is summarized. Different types of Joint Hypermobility, its secondary musculoskeletal manifestations and a simplified categorization of genetic syndromes featuring Joint Hypermobility are presented. The concept of a spectrum of pathogenetically related manifestations of Joint Hypermobility intersecting the categories of pleiotropic syndromes with Joint Hypermobility is introduced. A group of Hypermobility spectrum disorders is proposed as diagnostic labels for patients with symptomatic Joint Hypermobility but not corresponding to any other syndromes with Joint Hypermobility. © 2017 Wiley Periodicals, Inc.
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Contemporary approach to Joint Hypermobility and related disorders.
Current opinion in pediatrics, 2017Co-Authors: Marco Castori, Alan HakimAbstract:Purpose of reviewJoint Hypermobility is a common, although largely ignored physical sign. Joint Hypermobility is often asymptomatic but may be a feature of an underlying genetic disorder with systemic manifestations. The present article presents a comprehensive approach to considering Joint hypermob
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Generalized Joint Hypermobility, Joint Hypermobility syndrome and Ehlers-Danlos syndrome, Hypermobility type
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2015Co-Authors: Marco Castori, Marina ColombiAbstract:This issue of the American Journal of Medical Genetics Seminar Series Part C is dedicated to generalized Joint Hypermobility (gJHM), Joint Hypermobility syndrome (JHS), and Ehlers-Danlos syndrome, Hypermobility type (EDS-HT). gJHM is the best known clinical manifestation of inherited defects of the connective tissue. On the other side, JHS and EDS-HT are actually considered one and the same from a clinical perspective by most practitioners and researchers (i.e., JHS/EDS-HT), and their molecular basis remains unknown. For decades, "non-syndromic" gJHM and JHS/EDS-HT have been thought to be simple clinical curiosities or an asset for the "affected" individual. In recent years, the attention on these partially overlapping phenotypes has increased, as they are now recognized risk factors for a series of non-communicable diseases and long-term disabilities. This series consists of 10 papers focused on three main topics, namely (i) assessment and differential diagnosis of children and adults with gJHM, (ii) systematic presentation of selected key non-articular manifestations of JHS/EDS-HT and actual perception of physiotherapy as the best therapeutic resource for this condition, and (iii) exploration of the available knowledge relating "congenital laxity of tissues" to various dysfunctions of the nervous system during development and adulthood. The contributors hope that this collection raises attention to this fascinating field of knowledge, which seems to have ramifications in virtually all medical disciplines.
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neurodevelopmental attributes of Joint Hypermobility syndrome ehlers danlos syndrome Hypermobility type update and perspectives
American Journal of Medical Genetics Part C-seminars in Medical Genetics, 2015Co-Authors: Giulia Ghibellini, Francesco Brancati, Marco CastoriAbstract:In the last decade, increasing attention has been devoted to the extra-articular and extra-cutaneous manifestations of Joint Hypermobility syndrome, also termed Ehlers–Danlos syndrome, Hypermobility type (i.e., JHS/EDS-HT). Despite the fact that the current diagnostic criteria for both disorders remain focused on Joint Hypermobility, musculoskeletal pain and skin changes, medical practice and research have started investigating a wide spectrum of visceral, neurological and developmental complications, which represent major burdens for affected individuals. In particular, children with generalized Joint Hypermobility often present with various neurodevelopmental issues and can be referred for neurological consultation. It is common that investigations in these patients yield negative or inconsistent results, eventually leading to the exclusion of any structural neurological or muscle disorder. In the context of specialized clinics for connective tissue disorders, a clear relationship between generalized Joint Hypermobility and a characteristic neurodevelopmental profile affecting coordination is emerging. The clinical features of these patients tend to overlap with those of developmental coordination disorder and can be associated with learning and other disabilities. Physical and psychological consequences of these additional difficulties add to the chief manifestations of the pre-existing connective tissue disorder, affecting the well-being and development of children and their families. In this review, particular attention is devoted to the nature of the link between Joint Hypermobility, coordination difficulties and neurodevelopmental issues in children. Presumed pathogenesis and management issues are explored in order to attract more attention on this association and nurture future clinical research. © 2015 Wiley Periodicals, Inc.
Brad T. Tinkle - One of the best experts on this subject based on the ideXlab platform.
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Symptomatic Joint Hypermobility.
Best practice & research. Clinical rheumatology, 2020Co-Authors: Brad T. TinkleAbstract:Joint Hypermobility is relatively common and has many influences such as age, gender, training, and ethnicity among many. Joint Hypermobility may be asymptomatic or symptomatic. It may also be non-syndromic or syndromic. However, "asymptomatic" Joint Hypermobility may result in repetitive use injury, alter biomechanics of Joints at other body sites, or become symptomatic later in life. Symptomatic Joint Hypermobility can result from soft-tissue rheumatism (e.g. bursitis, tendonitis, etc.) or muscular tension pain due to muscular imbalance. Generalized Joint Hypermobility (GJH) can be easily assessed using a standardized, quick, in-office examination. Management is relatively straight forward once Joint Hypermobility is recognized using neuromuscular re-training. It is important to recognize that GJH may also be a feature of a heritable connective tissue disorder with other systemic findings. Therefore, assessing Joint Hypermobility in those with musculoskeletal complaints may lead to recognizing systemic manifestations and allow the appropriate management.
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Symptomatic Joint Hypermobility
The Medical clinics of North America, 2019Co-Authors: Brad T. Tinkle, Howard P. LevyAbstract:Joint Hypermobility may be syndromic or nonsyndromic, asymptomatic or symptomatic. However, asymptomatic Joint Hypermobility can cause repetitive use injury, alter biomechanics, or become symptomatic later in life. Symptomatic Joint Hypermobility can result from soft tissue injury or muscular strain caused by muscular imbalance. Treatment is straightforward once Joint Hypermobility is recognized. Generalized Joint Hypermobility can be assessed using a standardized in-office examination. Generalized Joint Hypermobility may also be a feature of a heritable connective tissue disorder with other systemic findings. Therefore, assessing Joint Hypermobility in the context of musculoskeletal complaints may lead to recognizing systemic manifestations and allow treatment accordingly.
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a framework for the classification of Joint Hypermobility and related conditions
American Journal of Medical Genetics Part C-seminars in Medical Genetics, 2017Co-Authors: Marco Castori, Brad T. Tinkle, Howard P. Levy, Rodney Grahame, Fransiska Malfait, Alan HakimAbstract:In the last decade, growing attention has been placed on Joint Hypermobility and related disorders. The new nosology for Ehlers-Danlos syndrome (EDS), the best-known and probably the most common of the disorders featuring Joint Hypermobility, identifies more than 20 different types of EDS, and highlights the need for a single set of criteria to substitute the previous ones for the overlapping EDS Hypermobility type and Joint Hypermobility syndrome. Joint Hypermobility is a feature commonly encountered in many other disorders, both genetic and acquired, and this finding is attracting the attention of an increasing number of medical and non-medical disciplines. In this paper, the terminology of Joint Hypermobility and related disorders is summarized. Different types of Joint Hypermobility, its secondary musculoskeletal manifestations and a simplified categorization of genetic syndromes featuring Joint Hypermobility are presented. The concept of a spectrum of pathogenetically related manifestations of Joint Hypermobility intersecting the categories of pleiotropic syndromes with Joint Hypermobility is introduced. A group of Hypermobility spectrum disorders is proposed as diagnostic labels for patients with symptomatic Joint Hypermobility but not corresponding to any other syndromes with Joint Hypermobility. © 2017 Wiley Periodicals, Inc.
Alan Hakim - One of the best experts on this subject based on the ideXlab platform.
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a framework for the classification of Joint Hypermobility and related conditions
American Journal of Medical Genetics Part C-seminars in Medical Genetics, 2017Co-Authors: Marco Castori, Brad T. Tinkle, Howard P. Levy, Rodney Grahame, Fransiska Malfait, Alan HakimAbstract:In the last decade, growing attention has been placed on Joint Hypermobility and related disorders. The new nosology for Ehlers-Danlos syndrome (EDS), the best-known and probably the most common of the disorders featuring Joint Hypermobility, identifies more than 20 different types of EDS, and highlights the need for a single set of criteria to substitute the previous ones for the overlapping EDS Hypermobility type and Joint Hypermobility syndrome. Joint Hypermobility is a feature commonly encountered in many other disorders, both genetic and acquired, and this finding is attracting the attention of an increasing number of medical and non-medical disciplines. In this paper, the terminology of Joint Hypermobility and related disorders is summarized. Different types of Joint Hypermobility, its secondary musculoskeletal manifestations and a simplified categorization of genetic syndromes featuring Joint Hypermobility are presented. The concept of a spectrum of pathogenetically related manifestations of Joint Hypermobility intersecting the categories of pleiotropic syndromes with Joint Hypermobility is introduced. A group of Hypermobility spectrum disorders is proposed as diagnostic labels for patients with symptomatic Joint Hypermobility but not corresponding to any other syndromes with Joint Hypermobility. © 2017 Wiley Periodicals, Inc.
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Contemporary approach to Joint Hypermobility and related disorders.
Current opinion in pediatrics, 2017Co-Authors: Marco Castori, Alan HakimAbstract:Purpose of reviewJoint Hypermobility is a common, although largely ignored physical sign. Joint Hypermobility is often asymptomatic but may be a feature of an underlying genetic disorder with systemic manifestations. The present article presents a comprehensive approach to considering Joint hypermob
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The genetic basis of the Joint Hypermobility syndromes
Rheumatology (Oxford England), 2006Co-Authors: Fransiska Malfait, Alan Hakim, A. De Paepe, Rodney GrahameAbstract:Rheumatologists have long considered that Joint Hypermobility is inherited. The familial aggregation is striking and the pattern of inheritance strongly points to an autosomal dominant mode. The first comprehensive description of symptomatic Joint Hypermobility in the rheumatological literature is attributed to Kirk, Ansell and Bywaters in 1967 [1]. They coined the term ‘Hypermobility syndrome’ (HMS). Later, the recognition of the relatively benign prognosis of the HMS in terms of life-threatening complications led to the use of the term ‘benign Joint Hypermobility syndrome’ (BJHS) or latterly, the ‘Joint Hypermobility syndrome’ (JHS). Early workers believed that Joint Hypermobility merely represented the upper end of a Gaussian distribution of the range of normal physiological movement [2]. Later it became apparent that connective tissues other than Joints, such as skin, bone and eye, participated in the connective tissue fragility seen in JHS. These clinical signs of connective tissue fragility are usually most prominent in the different forms of heritable disorders of connective tissue (HDCTs) such as Marfan syndrome (MFS), osteogenesis imperfecta (OI) and the Ehlers–Danlos syndromes (EDS). Marfan syndrome is an autosomal dominant disorder characterized by aortic dilatation, ectopia lentis, marfanoid habitus and mild to moderate Joint Hypermobility [3]. Osteogenesis imperfecta, another autosomal dominant HDCT, is mainly characterized by varying degrees of bone fragility, blue sclerae, short stature and mild Joint Hypermobility. The EDS comprise a clinically and genetically heterogeneous group of connective tissue diseases of which the principal clinical features are Joint Hypermobility, skin hyperextensibility, delayed wound healing with atrophic scarring and generalized connective tissue fragility [4]. There exists, however, a phenotypic overlap between these forms of HDCT. The marfanoid habitus (Table 1) for instance was once considered to be pathognomonic for MFS. This notion is no longer tenable. Marfanoid habitus can be seen in a host of HDCTs, as illustrated in Table 2. Similarly, the blue sclerae, once thought to occur only in OI are now considered to have a wider relevance as a non-specific pointer to collagen deficiency. Skin hyperextensibility (and associated bruising, delayed healing and atrophic scarring) originally identified exclusively with EDS, is also recognized in MFS [3]. Although brittle bones were initially considered to feature only in OI, a reduction in bone mineral density detected by Dual energy x-ray absorptiometry (DEXA) scanning has been demonstrated in both EDS [5] and MFS [6]. With recognition of the presence of mild fragility of connective tissues other than the Joints in patients with JHS, it became evident that JHS is itself an under-recognized form of an HDCT. Patients with JHS can present mild expression of marfanoid habitus (Table 2), osteoporosis, blue sclerae, skin hyperextensibility, atrophic scarring or easy bruising [7, 8] (Table 3). Since these features can also be present in the most common form of EDS, the Hypermobility type (or former type III), it seems increasingly likely that JHS is, if not identical, indistinguishable from the Hypermobility type of EDS [9].
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The genetic epidemiology of Joint Hypermobility: a population study of female twins.
Arthritis and rheumatism, 2004Co-Authors: Alan Hakim, Rodney Grahame, Lynn Cherkas, Tim D. Spector, Alex J. MacgregorAbstract:Objective To estimate the genetic influence on Joint Hypermobility in an unselected population using a classic twin study design. Methods A self-report questionnaire on Joint Hypermobility as well as data on age, height, weight, estrogen replacement therapy, and menopause status were obtained from 483 monozygotic (MZ) and 472 dizygotic (DZ) unselected female twin pairs ages 21–81 years who were registered with the St Thomas' Adult Twin Registry in the UK. Results The overall prevalence of Hypermobility was 19.5% in MZ twins and 22.1% in DZ twins. The prevalence of hypermobile Joints declined with age, falling from 34% in subjects ages 20–30 years to 18.4% in those ages 60 years or older. Significantly greater concordance for Joint Hypermobility was observed in the MZ twins when compared with the DZ twins (60% versus 36%), consistent with a genetic influence. In variance components analysis, the age- and body mass index–adjusted heritability of Joint Hypermobility was estimated to be 70% (95% confidence interval 57–89%). Conclusion Genetic factors have a substantial contribution to Joint Hypermobility in the adult female population.
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Joint Hypermobility.
Best practice & research. Clinical rheumatology, 2003Co-Authors: Alan Hakim, Rodney GrahameAbstract:Joint Hypermobility is an area of neglect in rheumatology. That is not to say it is overlooked by rheumatologists. It is spotted when sought, but for many unfortunate patients, here the story ends. The act of recognition becomes the goal in itself rather than the medium through which effective therapy can be provided. This chapter serves to reinforce the clinical and epidemiological importance of a common disorder whose significance is under-appreciated and impact largely ignored. In contradistinction to our earlier chapter, published in 2000, which took for its remit the heritable disorders of connective tissue in general, the current one focuses on the commonly encountered (so-called benign) Joint Hypermobility syndrome, its recognition, epidemiology, clinical features and management according to the most recent literature.
Howard P. Levy - One of the best experts on this subject based on the ideXlab platform.
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Symptomatic Joint Hypermobility
The Medical clinics of North America, 2019Co-Authors: Brad T. Tinkle, Howard P. LevyAbstract:Joint Hypermobility may be syndromic or nonsyndromic, asymptomatic or symptomatic. However, asymptomatic Joint Hypermobility can cause repetitive use injury, alter biomechanics, or become symptomatic later in life. Symptomatic Joint Hypermobility can result from soft tissue injury or muscular strain caused by muscular imbalance. Treatment is straightforward once Joint Hypermobility is recognized. Generalized Joint Hypermobility can be assessed using a standardized in-office examination. Generalized Joint Hypermobility may also be a feature of a heritable connective tissue disorder with other systemic findings. Therefore, assessing Joint Hypermobility in the context of musculoskeletal complaints may lead to recognizing systemic manifestations and allow treatment accordingly.
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a framework for the classification of Joint Hypermobility and related conditions
American Journal of Medical Genetics Part C-seminars in Medical Genetics, 2017Co-Authors: Marco Castori, Brad T. Tinkle, Howard P. Levy, Rodney Grahame, Fransiska Malfait, Alan HakimAbstract:In the last decade, growing attention has been placed on Joint Hypermobility and related disorders. The new nosology for Ehlers-Danlos syndrome (EDS), the best-known and probably the most common of the disorders featuring Joint Hypermobility, identifies more than 20 different types of EDS, and highlights the need for a single set of criteria to substitute the previous ones for the overlapping EDS Hypermobility type and Joint Hypermobility syndrome. Joint Hypermobility is a feature commonly encountered in many other disorders, both genetic and acquired, and this finding is attracting the attention of an increasing number of medical and non-medical disciplines. In this paper, the terminology of Joint Hypermobility and related disorders is summarized. Different types of Joint Hypermobility, its secondary musculoskeletal manifestations and a simplified categorization of genetic syndromes featuring Joint Hypermobility are presented. The concept of a spectrum of pathogenetically related manifestations of Joint Hypermobility intersecting the categories of pleiotropic syndromes with Joint Hypermobility is introduced. A group of Hypermobility spectrum disorders is proposed as diagnostic labels for patients with symptomatic Joint Hypermobility but not corresponding to any other syndromes with Joint Hypermobility. © 2017 Wiley Periodicals, Inc.
Rocío Martín-santos - One of the best experts on this subject based on the ideXlab platform.
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Anxiety and Joint Hypermobility Syndrome Throughout the Ballet Carrer
European Psychiatry, 2015Co-Authors: Simone Bianchi Sanches, G. M. Oliveira, Flávia De Lima Osório, José Alexandre De Souza Crippa, Rocío Martín-santosAbstract:Introduction Anxiety may be associated with diverse medical conditions, among which Joint Hypermobility syndrome. Joint Hypermobility (JHM) is characterized by increased elasticity and can be advantageous in specific activities, such as dance or gymnastics. On the other hand, Joint Hypermobility syndrome (JHS) is a more complex condition including other clinical symptoms, especially a history of injuries, skin signs, instability and pain. Objectives To investigate the prevalence of JHM and JHS throughout ballet career and the association between anxiety and Joint Hypermobility in a sample consisting of ballet dancers. Methods study included 145 dancers, divided into three groups: students (n=59), teachers (n=37) and professional ballerinas (n=49). Participants completed self-rating instruments assessing JHM (five-part questionnaire), anxiety (BAI), social anxiety (SPIN), panic (Patient Health Questionnaire – Brief PHQ) and pain (Brief Pain Inventory [BPI]; Self-Estimated Functional Inability because of Pain [SEFIP]). Ballet dancers also underwent a clinical evaluation based on Beighton score and Brighton criteria. Results Participants with JHM had higher scores in neurophysiological subscale of the BAI, but less social anxiety symptomatology. JHS correlated with the subjective and panic subscales of the BAI and with SPIN. Participants with JHS also presented higher scores in specific items of BAI as in specific items of SPIN. Conclusions our data suggest that JHS seems to be more consistently associated with anxiety than the 'isolated Hypermobility” (JHM). Nevertheless, the strenght of the correlation between anxiety and JHS was moderate. Data also provided elements to discuss important features of JHM, JHS and pain throughout the ballet career.
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Is Joint Hypermobility related to anxiety in a nonclinical population also
Psychosomatics, 2004Co-Authors: Antonio Bulbena, Guillem Pailhez, Rocío Martín-santos, Miquel Porta, Albert Agulló, Joan Guitart, Jordi GagoAbstract:This study examines the association between Joint Hypermobility syndrome and anxiety in a nonclinical sample. Subjects (N=526) receiving a medical check-up were assessed with the Hospital del Mar Hypermobility criteria and the State-Trait Anxiety Inventory. Scores for trait anxiety, and to a lesser extent state anxiety, were significantly higher among subjects with Joint Hypermobility syndrome than among subjects without this syndrome (median trait anxiety scores for women: 17 versus 11; median scores for men: 13 versus 1). These findings indicate that the association of Joint Hypermobility syndrome and anxiety holds even for subjects with no psychiatric diagnosis. Therefore, it seems that this benign connective tissue disorder is a predisposing factor for trait anxiety. However, it is necessary to further explore and define the biological basis of this syndrome, as well as its associations and clinical expressions, which interact with great complexity.
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Association Between Joint Hypermobility Syndrome and Panic Disorder
The American journal of psychiatry, 1998Co-Authors: Rocío Martín-santos, Antonio Bulbena, Miquel Porta, Jordi Gago, Lluis Molina, J. C. DuroAbstract:Objective:The purpose of this study was to assess whether Joint Hypermobility syndrome is more frequent in patients with panic disorder, agoraphobia, or both than in control subjects and, if so, to determine whether mitral valve prolapse modifies or accounts in part for the association.Method:A case-control study was conducted in a general teaching hospital outpatient clinic. Subjects were 99 patients, newly diagnosed and untreated, with panic disorder, agoraphobia, or both and two groups of age- and sex-matched control subjects: 99 psychiatric patients and 64 medical patients who had never suffered from any anxiety disorder. Measures consisted of the Structured Clinical Interview for DSM-III-R, Beighton’s criteria for Joint Hypermobility syndrome, and two-dimensional and M-mode echocardiogram. The presence of mitral valve prolapse and Joint Hypermobility syndrome was explored by raters who were blind to subjects’ psychiatric status.Results:Joint Hypermobility syndrome was found in 67.7% of patients with ...
