Chronic Pain and Joint Hypermobility: A Brief Diagnostic Review for Clinicians and the Potential Application of Infrared Thermography in Screening Hypermobile Inflamed Joints.

Joint hypermobility syndromes, particularly chronic pain associated with this condition, including Hypermobile Ehlers-Danlos Syndrome (hEDS) and Hypermobility Spectrum Disorders (HSD), present diagnostic challenges due to their multifactorial origins and remain poorly understood from biomechanical and genomic-molecular perspectives. Recent diagnostic guidelines have differentiated hEDS, HSD, and benign joint hypermobility, providing a more objective diagnostic framework. However, incorrect diagnoses and underdiagnoses persist, leading to prolonged journeys for affected individuals. Musculoskeletal manifestations, chronic pain, dysautonomia, and gastrointestinal symptoms illustrate the multifactorial impact of these conditions, affecting both the physical and emotional well-being of affected individuals. Infrared thermography (IRT) emerges as a promising tool for joint assessment, especially in detecting inflammatory processes. Thermal distribution patterns offer valuable insights into joint dysfunctions, although the direct correlation between pain and inflammation remains challenging. The prevalence of neuropathies among hypermobile individuals accentuates the discordance between pain perception and thermographic findings, further complicating diagnosis and management. Despite its potential, the clinical integration of IRT faces challenges, with conflicting evidence hindering its adoption. However, studies demonstrate objective temperature disparities between healthy and diseased joints, especially under dynamic thermography, suggesting its potential utility in clinical practice. Future research focused on refining diagnostic criteria and elucidating the underlying mechanisms of hypermobility syndromes will be essential to improve diagnostic accuracy and enhance patient care in this complex and multidimensional context.

Joint Hypermobility Syndrome and Membrane Proteins: A Comprehensive Review.

Ehlers-Danlos syndromes (EDSs) constitute a heterogeneous group of connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Asymptomatic EDSs, joint hypermobility without associated syndromes, EDSs, and hypermobility spectrum disorders are the commonest phenotypes associated with joint hypermobility. Joint hypermobility syndrome (JHS) is a connective tissue disorder characterized by extreme flexibility of the joints, along with pain and other symptoms. JHS can be a sign of a more serious underlying genetic condition, such as EDS, which affects the cartilage, bone, fat, and blood. The exact cause of JHS could be related to genetic changes in the proteins that add flexibility and strength to the joints, ligaments, and tendons, such as collagen. Membrane proteins are a class of proteins embedded in the cell membrane and play a crucial role in cell signaling, transport, and adhesion. Dysregulated membrane proteins have been implicated in a variety of diseases, including cancer, cardiovascular disease, and neurological disorders; recent studies have suggested that membrane proteins may also play a role in the pathogenesis of JHS. This article presents an exploration of the causative factors contributing to musculoskeletal pain in individuals with hypermobility, based on research findings. It aims to provide an understanding of JHS and its association with membrane proteins, addressing the clinical manifestations, pathogenesis, diagnosis, and management of JHS.

Generalized Joint Hypermobility: A Statistical Analysis Identifies Non-Axial Involvement in Most Cases.

CONTEXT: Joint hypermobility (JH) represents the extreme of the normal range of motion or a condition for a group of genetically determined connective tissue disorders. Generalized joint hypermobility (GJH) is suspected when present in all four limbs and the axial skeleton, scored in prepubescent children and adolescents by a Beighton Score (BS) ≥ 6. Parameters are also used to identify GJH in hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSDs). The purpose of this study is to characterize children with JH based on the location of variables in the BS ≥ 6 and identify children with JH in the axial skeleton, upper limbs (ULs), and lower limbs (LLs) simultaneously. METHODS: We analyzed 124 medical records of one- to nine-year-old children with JH by BS. RESULTS: The characterization of GJH by combinations of the axial skeleton, ULs, and LLs simultaneously totaled 25.7%. BS = 6 and BS = 8 consisted of variables located in ULs and LLs. BS = 7 included the axial skeleton, ULs, and LLs. BS ≥ 6 represents the majority of the sample and predominantly girls. CONCLUSIONS: BS ≥ 6 represents the majority of the sample and predominantly girls. Most characterized children with GJH present BS = 6 and BS = 8 with variables located only in ULs and LLs, a condition that does not imply the feature is generalized. In children, BS = 7 and BS = 9 characterize GJH by including the axial skeleton, ULs, and LLs. These results draw attention to the implications for defining the diagnosis of hEDS and HSDs.

Adaptación cultural y confiabilidad del instrumento Five-part questionnaire on hypermobility al contexto peruano / Cultural adaptation and reliability of the instrument Five-part questionnaire on hypermobility to the Peruvian context

INTRODUCCIÓN: Para el diagnóstico de hiperlaxitud articular se emplea comúnmente el Test de Beighton que requiere de un profesional para la exploración física. Por su parte, el instrumento es una herramienta autoadministrada que permite identificar de forma temprana la presencia de hiperlaxitud articular. OBJETIVOS: Realizar la adaptación cultural y confiabilidad test-retest del instrumento The Five-part questionnaire on hypermobility al contexto peruano, por medio de la traducción al español, adaptación lingüística y verificación de la confiabilidad test--retest en estudiantes de 13 a 17 años y docentes/administrativos de 24 a 60 años. MÉTODOS: Se realizó una traducción-retrotraducción con dos traductores, dos retrotraductores y la adaptación lingüística con 10 expertos. Obtenida la versión adaptada del cuestionario, se aplicó un análisis de comprensibilidad a 50 sujetos. Finalmente se estimó la confiabilidad test-retest en dos grupos: en adolescentes de 13 a 17 años y en adultos de 24 a 60 años. RESULTADOS: Se obtuvo la versión traducida del cuestionario, el cual pasó por un proceso de adaptación lingüística donde 10 expertos realizaron un análisis de concordancia (Coeficiente V de Aiken = 1) y un análisis de comprensibilidad con una escala de 0 a 10 que obtuvo una media de 10 puntos. Posteriormente, esta versión fue retro traducida y cotejada con el original. En el análisis de confiabilidad, los resultados de la aplicación del test-retest encontraron una confiabilidad alta entre el puntaje total de ambas aplicaciones tanto para el grupo de 65 adultos (Kappa 0,795; intervalo de confianza al 95%: de 0,777 a 0,819) y el de 71 adolescentes (Kappa 0,946; intervalo de confianza al 95%: de 0,908 a 0,982). CONCLUSIONES: Se adaptó el instrumento traducido cuestionario corto al contexto cultural de Perú y se encontró alta confiabilidad para los grupos de estudio de 13 a 17 años y de 24 a 60 años. Se recomienda la validación concurrente para considerar su aplicación en clínica y en investigación.

INTRODUCTION: For the diagnosis of joint hypermobility, the Beighton test is commonly used; this requires a professional for the physical examination. The "Five- part questionnaire on hypermobility" is a self- administered tool that allows early identification of joint hypermobility. OBJECTIVE: To carry out the cultural adaptation and test- retest reliability of the "Five- part questionnaire on hypermobility" to the Peruvian context through translation into spanish, linguistic adaptation, and verification of test- retest reliability in students from 13 to 17 years of age and teachers/ad-ministrators from 24 to 60 years of age. METHODS: A translation and back- translation were performed with two translators and two back- translators, followed by a linguistic adaptation with ten experts. Once the adapted version of the question-naire was obtained, a comprehensibility analysis was carried out with 50 subjects. Finally, test- retest reliability was estimated in two groups: adolescents aged 13 to 17 and adults aged 24 to 60. RESULTS: The translated version of the questionnaire was obtained and underwent a linguistic adaptation process in which ten experts performed a concordance analysis (Aiken's V coefficient = 1), and a comprehensibility analysis with a scale of zero to ten obtained an average of ten points. Subsequently, this version was back- translated and checked against the original. In the reliability analysis, the results of the test- retest application found high reliability between the total score of both applications for both the group of 65 adults (Kappa 0.795; 95% CI: 0.777 to 0.819) and the group of 71 adolescents (Kappa 0.946; 95% CI: 0.908 to 0.982). CONCLUSIONS: The translated instrument "Five- part questionnaire (5pq) on hypermobility" was adapted to the Peruvian cultural context, and high reliability was found for the study groups 13 to 17 years and 24 to 60 years. Concurrent validation is recommended to consider its application in clinical and research settings.

Cultural adaptation and reliability of the instrument Five-part questionnaire on hypermobility to the Peruvian context. / Adaptación cultural y confiabilidad del instrumento Five-part questionnaire on hypermobility al contexto peruano.

Introduction: For the diagnosis of joint hypermobility, the Beighton test is commonly used; this requires a professional for the physical examination. The "Five- part questionnaire on hypermobility" is a self- administered tool that allows early identification of joint hypermobility. Objective: To carry out the cultural adaptation and test- retest reliability of the "Five- part questionnaire on hypermobility" to the Peruvian context through translation into spanish, linguistic adaptation, and verification of test- retest reliability in students from 13 to 17 years of age and teachers/ad-ministrators from 24 to 60 years of age. Methods: A translation and back- translation were performed with two translators and two back- translators, followed by a linguistic adaptation with ten experts. Once the adapted version of the question-naire was obtained, a comprehensibility analysis was carried out with 50 subjects. Finally, test- retest reliability was estimated in two groups: adolescents aged 13 to 17 and adults aged 24 to 60. Results: The translated version of the questionnaire was obtained and underwent a linguistic adaptation process in which ten experts performed a concordance analysis (Aiken's V coefficient = 1), and a comprehensibility analysis with a scale of zero to ten obtained an average of ten points. Subsequently, this version was back- translated and checked against the original. In the reliability analysis, the results of the test- retest application found high reliability between the total score of both applications for both the group of 65 adults (Kappa 0.795; 95% CI: 0.777 to 0.819) and the group of 71 adolescents (Kappa 0.946; 95% CI: 0.908 to 0.982). Conclusions: The translated instrument "Five- part questionnaire (5pq) on hypermobility" was adapted to the Peruvian cultural context, and high reliability was found for the study groups 13 to 17 years and 24 to 60 years. Concurrent validation is recommended to consider its application in clinical and research settings.

Introducción: Para el diagnóstico de hiperlaxitud articular se emplea comúnmente el Test de Beighton que requiere de un profesional para la exploración física. Por su parte, el instrumento es una herramienta autoadministrada que permite identificar de forma temprana la presencia de hiperlaxitud articular. Objetivos: Realizar la adaptación cultural y confiabilidad test-retest del instrumento The Five-part questionnaire on hypermobility al contexto peruano, por medio de la traducción al español, adaptación lingüística y verificación de la confiabilidad test--retest en estudiantes de 13 a 17 años y docentes/administrativos de 24 a 60 años. Métodos: Se realizó una traducción-retrotraducción con dos traductores, dos retrotraductores y la adaptación lingüística con 10 expertos. Obtenida la versión adaptada del cuestionario, se aplicó un análisis de comprensibilidad a 50 sujetos. Finalmente se estimó la confiabilidad test-retest en dos grupos: en adolescentes de 13 a 17 años y en adultos de 24 a 60 años. Resultados: Se obtuvo la versión traducida del cuestionario, el cual pasó por un proceso de adaptación lingüística donde 10 expertos realizaron un análisis de concordancia (Coeficiente V de Aiken = 1) y un análisis de comprensibilidad con una escala de 0 a 10 que obtuvo una media de 10 puntos. Posteriormente, esta versión fue retro traducida y cotejada con el original. En el análisis de confiabilidad, los resultados de la aplicación del test-retest encontraron una confiabilidad alta entre el puntaje total de ambas aplicaciones tanto para el grupo de 65 adultos (Kappa 0,795; intervalo de confianza al 95%: de 0,777 a 0,819) y el de 71 adolescentes (Kappa 0,946; intervalo de confianza al 95%: de 0,908 a 0,982). Conclusiones: Se adaptó el instrumento traducido cuestionario corto al contexto cultural de Perú y se encontró alta confiabilidad para los grupos de estudio de 13 a 17 años y de 24 a 60 años. Se recomienda la validación concurrente para considerar su aplicación en clínica y en investigación.

Reproducibility of the Rocabado pain map.

OBJECTIVE: This study aimed to demonstrate the reproducibility of the Rocabado pain map (RPM) through its application by different evaluators. METHODS: Forty participants (18-45 years old) were evaluated. The examiners applied RPM by searching for painful areas, and their intensities were measured through the visual analog scale (VAS). In addition, presence and degree of joint laxity were estimated. RESULTS: Reproducibility values for antero-inferior synovial (zone 1), lateral ligament (zone 3), temporomandibular ligament (zone 4), posterior-inferior synovial (zone 5), and posterior ligament (zone 7) showed high intraclass correlation (ICC) values (above 0.7). Anterior-superior synovial (zone 2) and posterior-superior synovial (zone 6) showed ICC values above 0.4. DISCUSSION: RPM is reproducible. A "fair" concordance according to Fleiss's criteria in zone 2 (ICC 0.42) and zone 6 (ICC 0.64) might be explained by the difficulties involved in moving the condyle from the upper synovial (zones 1,5) to the lower synovial (zones 2,6).

Síndrome de Ehlers Danlos tipo III en un adolescente masculino / Ehlers-Danlos Syndrome Type III in a Male Adolescent

Introducción: El síndrome de Ehlers Danlos tipo III o síndrome de hiperlaxitud articular benigna, consiste en una alteración genética del colágeno tipo III/I con un patrón de herencia autosómico dominante, caracterizado por la presencia de articulaciones con una amplitud de movilidad incrementada y síntomas musculoesqueléticos y extraesqueléticos. Objetivo: Valorar la importancia de la aplicación del método clínico para el diagnóstico del Síndrome de Ehlers Danlos tipo III. Caso clínico: Se presenta el caso de un adolescente masculino de 15 años de edad con diagnóstico clínico reciente del Síndrome de Ehlers Danlos tipo III. Conclusiones: Para lograr un diagnóstico certero del síndrome de Ehlers Danlos tipo III es imprescindible aplicar con ciencia y conciencia el método clínico(AU)

Introduction: Ehlers-Danlos syndrome type III or benign joint hyperlaxity syndrome consists in a genetic alteration of collagen type III/I with a dominant autosomal inheritance pattern, characterized by the presence of joints with increased range of motion, as well as musculoskeletal and extraskeletal symptoms. Objective: To assess the importance of applying the clinical method for the diagnosis of Ehlers-Danlos syndrome type III. Clinical case: The case is presented of a 15-year-old male adolescent with a recent clinical diagnosis of Ehlers-Danlos syndrome type III. Conclusions: In order to achieve an accurate diagnosis of Ehlers-Danlos syndrome type III, it is essential to apply the clinical method scientifically and conscientiously(AU)

Autonomic nerve regulation in joint hypermobility patients with myofascial trigger points by Musculoskeletal Interfiber Counterirritant Stimulation (MICS).

Joint hypermobility (JH) conditions suggest dysfunction in the autonomic nervous system (ANS) (dysautonomia), associated with multifactor non-articular local musculoskeletal pain, and remains a complex treatment. This study aims to determine the effects of musculoskeletal interfiber counterirritant stimulation (MICS) as an innovative treatment of myofascial trigger points (MTrPs) on the upper trapezius muscle in JH patients. We evaluate the ANS activity by wavelet transform spectral analysis of heart rate variability (HRV) in sixty women, equally divided: MTrP, MTrP + general joint hypermobility (GJH), and MTrP + joint hypermobility syndrome (JHS). The protocol phases were rest, stimulation, and recovery, with clinical and home treatment for three-days. All groups show a significantly decreased in pain perception during and post-treatment, and an increased parasympathetic ANS activity under MICS in the GJH and JHS groups. The variables low-frequency (LF) vs. high-frequency (HF) showed significant differences during the protocol phases, and the LF/HF ratio maintained a predominance of sympathetic activity (SA) throughout the protocol. The new MICS technique reduces the pain perception and modulates the ANS activity by an increase in vagal tone, and a decrease in sympathetic tone. This modulation was followed by an increase in the HRV in JH patients after treatment with MICS. Clinical Trials: RBR-88z25c5.

Genomic Characterization by Whole-Exome Sequencing of Hypermobility Spectrum Disorder.

No genetic basis is currently established that differentiates hypermobility spectrum disorders (HSD) from hypermobile Ehlers-Danlos syndrome (hEDS). Diagnosis is entirely based on clinical parameters with high overlap, leading to frequent misdiagnosis of these two phenotypes. This study presents a landscape of DNA mutations through whole-exome sequencing of patients clinically diagnosed with generalized HSD. In this study, three genes (MUC3A, RHBG, and ZNF717) were mutated in all five patients evaluated. The functional enrichment analysis on all 1162 mutated genes identified the extracellular matrix (ECM) structural constituent as the primary overrepresented molecular function. Ingenuity pathway analysis identified relevant bio-functions, such as the organization of ECM and hereditary connective tissue disorders. A comparison with the matrisome revealed 55 genes and highlighted MUC16 and FREM2. We also contrasted the list of mutated genes with those from a transcriptomic analysis on data from Gene Expression Omnibus, with only 0.5% of the genes at the intersection of both approaches supporting the hypothesis of two different diseases that inevitably share a common genetic background but are not the same. Potential biomarkers for HSD include the five genes presented. We conclude the study by describing five potential biomarkers and by highlighting the importance of genetic/genomic approaches that, combined with clinical data, may result in an accurate diagnosis and better treatment.

The Presentation of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Is Not Influenced by the Presence or Absence of Joint Hypermobility.

OBJECTIVE: To examine demographic and clinical characteristics of individuals with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) with and without joint hypermobility We hypothesized that patients who were joint hypermobility-positive would have an earlier onset of ME/CFS symptoms as well as increased severity, a greater number of comorbid conditions, and a lower health-related quality of life. STUDY DESIGN: From an observational cohort study of 55 individuals meeting the Fukuda criteria for ME/CFS, we compared groups using a Beighton score cutoff of 4 or higher to indicate joint hypermobility. Chart data were collected to examine the age and type of onset of ME/CFS and the presence of comorbid conditions. The impact on quality of life was assessed through questionnaires that included the Peds QL, Functional Disability Inventory, Peds QL Multidimensional Fatigue Scale, and Anxiety Subscale of the Symptom Checklist 90. RESULTS: There was no significant difference between groups in mean ± SD age at onset of ME/CFS (13.3 ± 3.3 years vs 13.3 ± 2.3 years; P = .92), sex, frequency, and severity of ME/CFS symptoms, orthostatic intolerance symptoms, or comorbid conditions. There was no significant difference between the groups in measures of health-related quality of life using a Beighton score cutoff of 4 or a cutoff of 5 to define joint hypermobility. CONCLUSIONS: Despite being a risk factor for the development of ME/CFS, joint hypermobility as defined in this study was not associated with other clinical characteristics of the illness.

Consideraciones sobre el síndrome de hipermovilidad articular benigna / Considerations for benign joint hypermobility syndrome

El síndrome de hipermovilidad articular benigna es la aparición de síntomas musculoesqueléticos en individuos hipermóviles en ausencia de enfermedad reumatológica sistémica. El propósito de este estudio es mostrar los resultados de una revisión bibliográfica sobre hipermovilidad de las articulaciones y sus manifestaciones clínicas. La hipermovilidad puede ocurrir en varios trastornos diferentes del tejido conectivo, incluidos el síndrome de Marfán, el síndrome de Ehlers-Danlos y la osteogénesis imperfecta. También se puede encontrar en ciertos trastornos cromosómicos, genéticos y metabólicos. Identificar de manera habitual la hipermovilidad articular, y el síndrome de hipermovilidad articular no resulta una tarea difícil, siempre que forme parte del pensamiento clínico, lo cual ayudaría a evitar sus complicaciones y las tardanzas diagnósticas, lo que solucionaría en una medida nada despreciable los casos que se atienden regularmente en la práctica médica diaria(AU)

ABSTRACT Benign joint hypermobility syndrome is the appearance of musculoskeletal symptoms in hypermobile individuals in the absence of systemic rheumatologically disease. To show the results of a bibliographic review on joint hypermobility and its clinical manifestations. Hypermobility can occur in several different connective tissue disorders, including Marfan syndrome, Ehlers-Danlos syndrome, and osteogenesis imperfect. It can also be found in certain chromosomal, genetic, and metabolic disorders. Identifying joint hypermobility on a regular basis, and JHS is not a difficult task, as long as it is part of clinical thinking, which would help to avoid its complications and diagnostic delays, which would solve a not inconsiderable measure of cases that they are regularly cared for in daily medical practice.

Psychosocial and Motor Characteristics of Patients With Hypermobility.

Objectives: To identify psychosocial and motor aspects related to joint hypermobility (JH) in a sample from almost all Brazilian states by age range and sex; to characterize JH by the Beighton total score ≥4, ≥5, and ≥6 according to sex and age and atypicality in the sitting position and in the hands; identify, in the total sample, manifestations of "growing pain" and its location, fatigue, attention deficit, anxiety, insomnia, drowsiness, apathy, depression, delay in walking, not crawling or crawling differently, school performance, spatial orientation and/or temporally impaired, social isolation, and being stigmatized as "lazy/clumsy/apathetic". Methods: This retrospective, observational, quantitative, and cross-sectional study used data obtained through analyses of descriptive and inferential crossings between 2012 and 2020 of 482 medical records of individuals between 1 and 76 years of age, from most Brazilian states. All patients previously diagnosed with "joint hypermobility syndrome" (JHS) and "Ehlers-Danlos syndrome hypermobility type" (EDS-HT) had their medical records reassessed, following the guidelines established in 2017. The analysis of GJH was performed using the updated method by Beighton method; atypical characteristics were investigated in the hands and the ability to sit in the "W" and the "concave" positions. The characteristics and manifestations of "growing pain" and its location were analyzed in the total sample, fatigue, insomnia, drowsiness, apathy, depression, social isolation, attention deficit, anxiety, stigmatization as "lazy," clumsy/restless, impaired school performance, and spatial and/or temporal orientation. Descriptive and inferential statistical methods were used, such as Mean, Median, Mode, Standard Deviation, Standard Error, Maximum Value, Minimum Value, Komolgorov-Smirnov, Significance, Relative Value, Absolute Value, Mann-Whitney U, and Correlation of Spearman. Results: JH in the total sample predominated in the upper limbs, the majority were women, represented by 352 (73.02%), 15 years old or older with 322 (66.80%), 312 (64.73%) had a Beighton total score ≥6, which decreased as the age increased. Always sitting in the "concave" position was represented by 54.15% and the ability to sit in the "W" position by 39.21%; signs on the hands totaled between 27.59 and 44.19% with a significant correlation between the variables. Among the characteristics, fatigue predominated, followed by an awkward/clumsy/restless individual, attention deficit, anxiety and stigmatized as "lazy," insomnia, drowsiness, apathy, depression, impaired spatial and/or temporal orientation, and social isolation. From the total sample, pain in the lower limbs was reported by 55.81% and having or having had "growing pain" was reported by 36.93%, delay in walking occurred in 19.92%, 15.35% did not crawl or crawled differently, and for 12.86%, school performance was impaired. Higher Beighton total scores showed a trend towards motor implications and correlation between variables. Ability to still sit in the "concave" position was possible for 54.15% and to sit in the "W" position for 39.21%. Conclusion: In the total sample, the JH characteristic prevails in the upper limbs of female children, adolescents and adults, with a total Beighton score ≥6. Most sit in the "concave" position and less than half also sit in the "W" position and with atypical hand postures. The higher Beighton scores, which include the upper limbs, show a tendency to not crawl or crawl differently, delayed ambulation, and impaired school performance. The predominance of JH in the upper limbs is suggestive of a justification for not crawling or crawling differently. Characteristics of atypical motor performance in hands and sitting posture, in addition to fatigue, pain since childhood, anxiety, apathy, depression, sleep disorders, stigmatization, attention deficit, spatial and/or temporal orientation impairment, and social isolation are characteristics. suggestive of psychosocial implications at different ages. Future studies with motor and psychosocial aspects of people with JH will help to identify the phenotype of this population and consequent guidance for clinical management based on the motor and psychosocial aspects of people with JH.

Estudios de agregación plaquetaria como endofenotipo de las alteraciones hereditarias de la fibra colágena / Platelet aggregation studies as an endophenotype of hereditary disorders of collagen fiber

Introducción: Las plaquetas contribuyen a la hemostasia y la interrupción heredada o adquirida; en sus procesos bioquímicos pueden alterar la función plaquetaria. Estos trastornos de agregación se han asociado a enfermedades genéticas con afectación del tejido conectivo como el síndrome Ehlers-Danlos, cuyo diagnóstico diferencial con el espectro de hipermovilidad articular resulta difícil clínica y molecularmente. Estas entidades con afectación en las fibras colágenas y diferente repercusión clínica precisan diferenciales en su diagnóstico clínico. Métodos: Se revisaron 353 historias clínicas de pacientes atendidos en el Servicio de Genética del Hospital Pediátrico William Soler desde septiembre del 2009 al 2012, con diagnóstico de hipermovilidad articular por criterios de Beighton y de Ehlers-Danlos según Villefranche (1997). Se incluyó a los pacientes de 5-18 años con resultados documentados del estudio de agregación plaquetaria, valorados por especialistas en hematología. Resultados: Se encontraron trastornos de agregación plaquetaria en 79 de 86 pacientes (92 por ciento). En 7 casos con hipermovilidad de 65 con este diagnóstico (10 por ciento), los resultados fueron negativos. Los 21 con síndrome Ehlers-Danlos tuvieron afectaciones con los fosfolípidos plaquetarios. La hipermovilidad articular estuvo asociada a la combinación difosfato de adenosina (ADP)-epinefrina y el Ehlers-Danlos a la combinación ADP-epinefrina-colágeno-fosfolípidos. Conclusiones: Los pacientes con hipermovilidad articular mostraron asociación a defectos de liberación de gránulos con agonistas como el ADP-epinefrina y los Ehlers-Danlos con la disponibilidad de los fosfolípidos, relacionados con el cambio de forma plaquetaria. Este resultado puede ser una herramienta para conocer el endofenotipo funcional plaquetario como elemento diferencial en los trastornos de la fibra colágena(AU)

Introduction: Platelets contribute to hemostasis and inherited or acquired interruption; in its biochemical processes it can alter platelet function. These aggregation disorders have been associated with genetic diseases with connective tissue involvement such as Ehlers-Danlos syndrome, whose differential diagnosis with the spectrum of joint hypermobility is clinically and molecularly difficult. These entities with involvement of the collagen fibers and different clinical repercussions require differentials in their clinical diagnosis. Methods: 353 medical records of patients attended in the Genetics service of the William Soler Pediatric Hospital from September 2009 to 2012, with a diagnosis of joint hypermobility by Beighton and Ehlers-Danlos criteria according to Villefranche (1997) were reviewed. Patients aged 5-18 years were included with documented results of the platelet aggregation study, assessed by specialists in hematology. Results: Platelet aggregation disorders were found in 79 of 86 patients (92 percent). In 7 cases with hypermobility of 65 with this diagnosis (10 percent), the results were negative. The 21 with Ehlers-Danlos syndrome had affectations with platelet phospholipids. Joint hypermobility was associated with the combination adenosine diphosphate (ADP) -epinephrine and the Ehlers-Danlos with the combination ADP-epinephrine-collagen-phospholipids. Conclusions: Patients with joint hypermobility showed an association to granule release defects with agonists such as ADP-epinephrine and Ehlers-Danlos with the availability of phospholipids, related to platelet shape change. This result can be a tool to know the platelet functional endophenotype as a differential element in collagen fiber disorders(AU)

The Prevalence of Hypermobility in Children with Irritable Bowel Syndrome and Functional Abdominal Pain Is Similar to that in Healthy Children.

OBJECTIVES: To test the hypothesis that the prevalence of joint hypermobility is greater in children with irritable bowel syndrome and functional abdominal pain than in healthy control children and is related to gastrointestinal symptoms and psychosocial distress (anxiety, depression, and somatization). STUDY DESIGN: Children (irritable bowel syndrome, n = 109; functional abdominal pain, n = 31; healthy control, n = 69), 7-12 years of age completed prospective 2-week pain and stooling diaries and child- and parent-reported measures of anxiety, depression, and somatization. Joint hypermobility was determined using Beighton criteria (score of ≥4 or 6). We also examined possible relationships between Beighton score, race, body mass index, gastrointestinal symptoms, and psychosocial distress. RESULTS: Beighton scores were similar between groups, as was the proportion with joint hypermobility. Scores were higher in girls (3.1 ± 2.4) than boys (2.3 ± 1.8; P = .004) and decreased with age (P < .001; r = -0.25). Race and body mass index did not impact joint hypermobility prevalence. Beighton scores were not related to abdominal pain or stooling characteristics. Participants with a score of ≥4 and ≥6 had greater somatization and depression by child report (P = .017 and P = .048, respectively). No association was seen for anxiety. There was no significant association between joint hypermobility and psychosocial distress measures per parent report. CONCLUSIONS: Contrary to the adult literature, the prevalence of joint hypermobility does not differ among children with irritable bowel syndrome, functional abdominal pain, or healthy control children. The presence or severity of joint hypermobility does not correlate with abdominal pain or stooling characteristics. Somatization and depression by child report appear to have a relationship with joint hypermobility.

Signos y síntomas en niños y adolescentes con hipermovilidad articular: un estudio transversal cuantitativo observacional / Signs and symptoms in children and adolescents with joint hypermobility: an observational, quantitative cross-sectional study

Contexto y Objetivo: La hipermovilidad articular (HA) puede representar el ex-tremo del rango normal de movimiento o condición para un grupo de trastornos hereditarios del tejido conectivo, con una variación de 2-64.6% en diferentes poblaciones. El objetivo fue caracterizar la asociación entre HA con las manifestaciones en forma de signos y síntomas.Tipo de Estudio y Ajuste: Estudio transversal cuantitativo observacional en un hospital universitario público.Métodos: Estudio con niños y adolescentes entre 5 y 16 años, de ambos sexos, en asistencia multiprofesional en la clínica ambulatoria de HA y SED en el Hospital Base de São José do Rio Preto y en la Unidad del Proyecto "Gato de Botas", en colaboración con FAMERP. Se utilizó un cuestionario para registrar datos y análisis realizados en base a cálculos de medidas de tendencia central, dispersión y conteos de frecuencia.Resultados: El puntaje 4 obtuvo la frecuencia más alta (45,61%), seguido del puntaje 6 (21,05%). Las manifestaciones musculoesqueléticas y extraesqueléticas fueron frecuentes. La variable de hiperextensión del quinto dedo >90º fue la variable con mayor incidencia, seguida de la aposición del pulgar al tocar la región flexora del antebrazo.Conclusiones: Entre los niños y adolescentes con HA, la mitad o más presentaron manifestaciones musculoesqueléticas o extraesqueléticas.

Background and Aim: Joint hypermobility (JH) may be the extreme of the normal range of motion or a condition for a group of hereditary connective tissue disorders, with a prevalence rate of 2 to 64.6% in different populations. The aim of the present study was to characterize the association between JH and manifestations in the form of signs and symptoms. Study Type and Setting: An observational, quantitative, cross-sectional study was conducted at a public hospital. Methods: This study involved the participation of male and female children and adolescents aged five to 16 years under multidisciplinary care at the JH and Ehlers-Danlos syndrome clinic of the São José do Rio Preto Base Hospital and the "Gato de Botas" Project Unit in partnership with the São José do Rio Preto School of Medicine. A questionnaire was administered for the recording of the data, which were analyzed descriptively, with the calculation of central tendency and dispersion measures as well as the determination of frequencies.Results: Beighton score 4 was the most frequent (45.61%), followed by score 6 (21.05%). Musculoskeletal and extraskeletal manifestations were frequent. Hyperextension of the 5th finger > 90º had a higher occurrence, followed by the thumb touching the flexor region of the forearm. Conclusions: Among children and adolescents with hypermobility, half or more had musculoskeletal or extraskeletal manifestations.

[Case-Control Study On Generalised Joint Hypermobility In Schoolchildren With Functional Gastrointestinal Disorders According To Rome IV Criteria In Spanish]. / Estudio de casos y controles sobre hiperlaxitud articular generalizada en escolares con trastornos digestivos funcionales según los criterios de roma IV en español.

INTRODUCTION: Although results show an association between the presence of generalised joint hypermobility (GJH) and functional gastrointestinal disorders (FGIDs) in children, they are limited and controversial. OBJECTIVE: To determine the association between GJH and FGIDs and the search for risk factors for GJH in girls from a Public Educational Institution of Tuluá, Colombia. PATIENTS AND METHODS: The students completed the Rome IV Questionnaire to identify FGIDs. Each girl with a diagnosis of some FGIDs was matched with a healthy control of the same age. Joint laxity was assessed according to the Beighton score and was considered as GJH when it was ≥ 4. The prevalence of GJH was compared in girls with and without FGIDs. RESULTS: Out of a total of 921 girls between 10 and 18 years of age that participated in the study, 219 (23.8%) of them had some FGIDs. The analysis was performed on a total of 169 girls with FGIDs and 169 healthy control girls. There were no significant differences in GJH between girls with and without a diagnosis of some FGIDs (OR=1.12: 95% CI; 0.71-1.77, P=.5838), nor were there any risk factors. CONCLUSION: In this study, no relationship or any risk factor was found between GJH and the presence of FGIDs.

Survey on joint hypermobility in university students aged 18-25 years old.

BACKGROUND: Joint hypermobility is defined as a wide range of movements beyond the physiological limits, it has been recognized in healthy people, gymnasts, acrobats, and carriers of genetic affections of connective tissue. A survey among young adults was conducted to describe the frequency of joint hypermobility, estimating its impact on function and quality of life. METHODS: Volunteer university students aged 18 to 25 years old who answered a valid 5-item questionnaire about hypermobility, a physical activity questionnaire, and the Brazilian version of the Medical Outcome Survey Short Form 36 (SF-36) were included. Hypermobility was also assessed by a guided self-examination, with Beighton's criteria being scored and scores greater than or equal to 4 or less than 4 being discriminated. RESULTS: A total of 388 subjects were included, of which 299 were women (77.06%) and 89 were men (22.94%); the median age was 23 years old. Generalized joint hypermobility (Beighton score ≥ 4) was observed in 104 individuals (26.8%). Localized hypermobility (Beighton score 1-3) was observed in 135 (34.79%) individuals, where the hypermobility of the 5th finger was the most frequent in 165 (57.47%) individuals, followed by hypermobility of the thumb in 126 (32.56%) individuals, hypermobility of the elbows and knees each in 72 (18.6%) individuals, and hypermobility of the spine in 69 (17.79%) individuals. The descriptive observation of physical activity indicated regular practice. The correlation coefficients between the SF-36 domains and hypermobility scores were very low and statistical comparison not significant. CONCLUSION: In this population of youngsters, predominantly women, localized hypermobility was more frequent than generalized hypermobility; however, with low impact on health domains and quality of life scores, estimated in each domain of the SF-36, the physical and mental component scores, and the time dedicated to physical activity.

Pessoas com a síndrome de Hhlers Danlos e hipermobilidade articular nas escolas: perspectivas inclusivas / People with Ehlers Danlos syndrome and articular hypermobility in schools: inclusive perspectives

Algumas lacunas presentes no sistema educacional não contemplam reflexões fundamentais sobre os transtornos de aprendizagem relacionados a diferentes síndromes estudadas e sobre aportes necessários para a recepção da população sindrômica nas escolas. Fazendo uma revisão da literatura, tipo narrativa, este artigo aborda a necessidade de atenção à inclusão integrativa das pessoas com síndrome de Ehlers Danlos-Tipo Hipermobilidade (SED-TH), doença hereditária do tecido conjuntivo, e da benigna Hipermobilidade Articular (HA), pelo fato de alguns estudos tecerem considerações sobre a associação existente entre estas condições e possíveis transtornos de aprendizagem e as limitações apresentadas pelas pessoas com SED-TH e HA. Além de indicar a prevalência e o desconhecimento sobre a síndrome, é apontada a necessidade de um estudo populacional em escolas, visando sua identificação e divulgação. Por meio da integração entre Educação e Saúde e uma abordagem multidisciplinar, seria possível definir estratégias e meios de oferecer atenção diferenciada nas escolas aos sindrômicos e hipermóveis, oportunizando a integração social e impulsionando a aprendizagem, para evitar estigmatizar pessoas nestas condições. A informação e capacitação de educadores, de outros profissionais envolvidos e de familiares são estratégias-chave nesse processo de recepção e integração destes educandos nas escolas e a apresentação de questionários de autoavaliação, guias e manuais voltados para informação de profissionais da área da educação no que se refere à SED-TH e HA destacam-se como possíveis ferramentas, assim como o estabelecimento de parcerias para atendê-los e a utilização das redes públicas de formação de professores para a divulgação e capacitação sobre a SED-TH e HA.

Some gaps in the educational system do not contemplate fundamental reflections on the learning disorders related to the different syndromes studied and about the contributions necessary for the reception of the syndromic population in the schools. A review of literature, narrative type, this article addresses the need for attention to the integrative inclusion of Ehlers Danlos Syndrome-Type Hypermobility (EDS-JH), hereditary connective tissue disease, and benign Articular Hypermobility (JH) due to the fact that some studies make considerations about the association between these conditions and possible learning disordersty and limitations of patients with EDS-JH/ JHS and JH. In addition to indicating the prevalence and lack of knowledge about the syndrome, it is pointed out to the need for a population study in schools, aiming to identify and disseminate it. It is suggested that by integrating Education and Health and multidisciplinary approach aims to boost and highlight strategies and means to provide special attention in schools to the syndromic and hypermobile, providing opportunities for social integration and boosting learning, to avoid stigmatizing people in these conditions. Information and training educators, other professionals and family are key strategies considered in this process of reception and integration of learners in schools and gives priority to raising self-assessment questionnaires; guides and manuals aimed to information and training of education professionals in relation to EDS-JH/JHS and JH stand out as possible tools, as well as the establishment of partnerships to serve them and the use Public Networks teacher training for the dissemination and training on the EDS-JH and JH.

Análisis del proceso de rehabilitación física en pacientes adolescentes con síndrome de hipermovilidad articular

El proceso de rehabilitación física en pacientes con síndrome de hipermovilidad articular y síndrome de Elhers Danlos tipo hiperlaxitud fue y es una de las vías para el tratamiento de las diferentes manifestaciones clínicas padecidas por los afectados. Por tal motivo se efectuó la búsqueda y valoración crítica de investigaciones, que a nivel internacional, estudiaron formas de rehabilitación física mediante programas de ejercicios físicos e implementación de estos en dichos pacientes. A nivel nacional no se encontró ninguna evidencia científica que mostrara la confección e implementación de alguna herramienta metodológica (guías, programas, baterías, manuales de ejercicios físicos) en estos casos. Por tal motivo no se realizó ningún análisis al respecto. El propósito de este estudio fue crear las bases teóricas para llegar a un conceso de carácter científico - metodológico que acercase a los especialistas de cómo concebir el proceso de rehabilitación en los afectados.

The process of physical rehabilitation in patients with Articular hypermobility syndrome syndrome and Ehlers Danlos hypermobility type was and is one of the avenues for the treatment of different clinical manifestations suffered by those affected. Therefore the search and critical appraisal of research was carried out, that internationally, studied forms of physical rehabilitation through exercise programs and implementing these in such patients. Nationally no scientific evidence to show the preparation and implementation of any methodological tool (guides, programs, batteries, manuals exercise) in these cases was not found. Therefore any analysis on it was not performed. The purpose of this study was to create the theoretical basis for reaching a concessive scientific - methodological specialists to get closer to conceive how the rehabilitation process in the affected.