Presence Of Joint Hypermobility Research Articles

Effect of joint hypermobility on outcomes of children with juvenile idiopathic arthritis.

Juvenile idiopathic arthritis (JIA) is common in pediatric rheumatology. Despite treatment, many patients experience persistent disease activity. Joint hypermobility (JH), defined by an excessive range of motion across multiple joints, is prevalent in children and adolescents and may influence disease outcomes in JIA. This study examines the impact of JH on symptoms in youth and young adults with JIA. Data were obtained from the PR-COIN network and included patients under 21years old with a diagnosis of JIA. Patients with JIA and JH were matched with those having JIA-only based on age, sex assigned at birth, JIA subtype, and medication exposure. Clinical data, including disease activity measures, patient well-being, and pain ratings, were collected at baseline and follow-up visits. The sample included 420 patients with JIA + JH and 2100 with JIA only. The JIA + JH group exhibited higher disease activity at baseline, more active arthritis joints, elevated physician global assessment of disease activity scores, and worse patient-reported well-being. These differences persisted over time. The JIA + JH group had a 19-20% greater likelihood of maintaining high disease activity scores and worsening over subsequent visits, indicating a significant impact of JH on disease progression. JH in youth with JIA is associated with higher and persistent disease activity, suggesting that JH significantly contributes to the disease burden in patients with JIA and should be considered in treatment strategies. Future research should further explore the mechanisms by which JH influences disease activity and investigate comprehensive management approaches to improve outcomes for this population. Key Points • Children with JIA and joint hypermobility (JH) exhibit significantly higher disease activity at baseline compared to those with JIA only, including more active arthritis joints and elevated physician global assessment scores. • The presence of JH in JIA patients is associated with poorer patient-reported well-being and higher overall disease activity scores, which persist over time despite treatment. • JIA + JH patients have a 19-20% greater likelihood of maintaining high disease activity and worsening over subsequent visits, indicating a significant impact of JH on disease progression. • The study suggests that JH should be considered an important clinical factor in the management of JIA, with targeted interventions needed to address the increased disease activity and improve overall patient outcomes.

Search for molecular markers of joint hypermobility

Background: Joint hypermobility (JH) is a condition that can be either benign or accompanied by pain and early development of osteoarthritis. For early verification of the risk of complications, it is necessary to study the molecular pathogenesis of various JH variants. The aim of the study: The aim of this study was to search for candidate genes involved in connective tissue metabolism and causing joint hypermobility in a form isolated or combined with connective tissue dysplasia (CTD). Materials and methods: The study involved young (21,86±0,22 y.o.) people (n=181). A clinical study was conducted for the presence of signs of JH (Beighton scale) and CTD (tables Kadurina T.I.). Further, a molecular genetic study was carried out and the search for associations of polymorphic variants of genes (vitamin D receptor (VDR), lumican (LUM), tenascin (TNXB), growth/differentiation factor 5 (GDF5), magnesium ion channel TRPM6), bone morphogenetic protein type 5 (BMP5)) and JH, CTD in isolated and combined forms. Statistical data processing was carried out by comparing qualitative features using the χ2 test, Fisher's exact test, and the χ2 test with Yates' correction for contingency tables 2x2. The strength of associations was assessed in terms of the odds ratio (Odds Ratio, OR, at p<0.05), the correction for multiple comparisons was carried out using the FDR method (Benjamin- Hochberg). Quantitative data were evaluated in pairs using the Student's t-test, the normality of distribution according to the Kolmogorov-Smirnov test. Results: Associations of the G allele and the GG genotype of the rs3734444 locus of the BMP5 gene with the presence of JH (OR=3.70 and OR=5.10), the A allele of the rs1470527 locus of the BMP5 gene and the presence of JH+CTD- (OR=8.00), the T allele and the TT genotype of the rs11144134 locus of the TRPM6 gene with JH in isolated (OR=3.00 and OR =10.19) and in the forms combined with CTD (OR=3.17 and OR=11.28), the TT genotype was also associated with the isolated form of CTD (OR=3.74). The GT genotype of the rs73611720 locus of the GDF5 gene was associated with isolated CTD (OR=4.15). No statistically significant associations were found for polymorphic variants rs11540149 (VDR), rs2268578 and rs3759222 (LUM), rs3130342 (TNXB). Conclusion: The G allele of locus rs3734444 of the BMP5 gene is a potential risk marker for JH in general, the A allele of locus rs1470527 is an isolated JH, the GT genotype of locus rs73611720 of the GDF5 gene is a marker for isolated CTD, the T allele of locus rs11144134 of the TRPM6 gene is a marker for JH combined with CTD.

Polymorphic Variants of the <i>ADAMTS5</i> Gene as New Markers of Joint Hypermobility

Joint hypermobility (JH) is a common phenotype that can be both an independent clinical syndrome and a manifestation of connective tissue diseases. The pathogenesis of JH is not well understood. JH may be a predisposing factor in the development of musculoskeletal system pathology, so it is necessary to identify its molecular markers to prevent the formation of associated disorders.Objective: to search for associations of five polymorphic variants of the ADAMTS5 gene with JH and connective tissue dysplasia (CTD).Material and methods. A one-stage screening study of young people (n=181, mean age 21.86±0.22 years) was performed. We searched for associations of polymorphic variants of the rs226794, rs9978597, rs2830585, rs229077, rs229069 loci of the ADAMTS5 gene with JH, undifferentiated CTD, and their combinations. JH was determined by the Beighton scale, CTD – by a quantitative method. The study of polymorphic variants was carried out using real-time polymerase chain reaction. To compare qualitative features, Fisher's exact test with Yates’s correction for 2×2 contingency tables was used. The strength of associations was assessed using the odds ratio (OR), differences were considered significant at p<0.05, the correction for multiple comparisons was performed using the Benjamini–Hochberg method (false discovery rate, FDR).Results and discussion. JH was detected in 128 (70.7%), signs of CTD – in 129 (71.3%) patients, including 115 (63.5%) patients in combination with JH. We found associations of the T allele and the TT genotype of the rs9978597 locus with the presence of JH (OR 5.00 and 7.81, respectively), CTD (OR 3.13 and 3.96), or their combinations (OR 6.33 and 10.23). An association of the GG genotype of the rs226794 locus with isolated JH was also found (OR 3.87).Conclusion. The GG genotype of the rs226794 locus of the ADAMTS5 gene is a marker of isolated JH, the T allele of the rs9978597 locus is a marker of both isolated JH and CTD, and their combination.

Joint Status and Bleeding Phenotype Characterization in Severe and Non-Severe Hemophilia a and B

Introduction: Persons with hemophilia (PwH) A and B are known to have variable bleeding phenotypes and may have joint bleeding that is less clinically apparent. In recent years, musculoskeletal ultrasound (MSKUS) has become an established modality useful for evaluating joint status. Further, determination of individual bleeding phenotype can be challenging, but clinical tools including the International Society on Thrombosis and Haemostasis Bleeding Assessment Tool (ISTH-BAT), self-BAT, and the Beighton Hypermobility Score (BHS) have been developed. Methods: We hypothesize that presence and degree of joint disease, evaluated with MSKUS and physical assessment scoring, will correlate with severity of bleeding phenotype as characterized through clinical history, BAT assessment, and presence of joint hypermobility in PwH A and B. This will be accomplished through assessing baseline joint status and disease progression over time with MSKUS, as well as through use of the ISTH-BAT, self-BAT, and assessment of hypermobility with the BHS. Up to 100 individual subjects with severe, moderate, or mild hemophilia A or B will be enrolled and assessed at baseline and annually during the study period at our institution. Correlation of joint status with BHS and BAT scores will be analyzed with the generalized estimating equation (GEE) and other statistical methods. Results: Thus far, 15 male patients have been enrolled (Table 1). All moderate and severe hemophilia patients are on prophylactic therapies for bleed prevention, and 3 patients have history of inhibitors. Target joints were reported only in severe PwH. MSKUS measurements were completed using the JADE protocol1. Patient enrollment remains ongoing. Discussion: Knowledge pertaining to joint status and bleeding phenotype is PwH A and B is limited. This pilot study will assess the presence and degree of joint disease, evaluated with MSKUS and physical assessment scoring, and its correlation with severity of bleeding phenotype as characterized through clinical history, BAT assessment, and presence of joint hypermobility in PwH hemophilia A and B. The results will be used to justify a larger, multicenter study to expand understanding of joint status and bleeding phenotype in PwH.

Variant connective tissue (joint hypermobility) and its relevance to depression and anxiety in adolescents: a cohort-based case–control study

ObjectiveTo test whether variant connective tissue structure, as indicated by the presence of joint hypermobility, poses a developmental risk for mood disorders in adolescence.DesignCohort-based case–control study.SettingData from the Avon Longitudinal...

Is joint hypermobility related to preterm birth?

Aim The aim of this study was to investigate whether women giving preterm birth have joint hypermobility. Methods The study included 44 women giving preterm birth (study group) and 48 women with the history of term birth (control group). After demographic data were recorded, the presence of joint hypermobility based on the Beighton diagnostic criteria and subgroup scores were noted down. Total Beighton scores were compared between the study and control groups. Results The total Beighton scores were significantly higher in the study group (p < .001). The study group had the highest hypermobility score for elbow hyperextension and the lowest hypermobility score for thumb hyperextension. Conclusions It should be kept in mind that joint hypermobility detected during follow-up of pregnancy can be related to the risk of preterm birth. Informing pregnant women with joint hypermobility about the possibility of preterm birth could be helpful.

Is the association between knee injury and knee osteoarthritis modified by the presence of general joint hypermobility?

To evaluate whether joint hypermobility modifies the association between knee joint injury and knee osteoarthritis (OA) among adults. Data were from three studies: Genetics of Generalized Osteoarthritis (GOGO; N=2,341), Genetics of Osteoarthritis (GO; N=1,872), and the population-based Johnston County Osteoarthritis Project (JoCoOA; N=1,937). Knee injury was defined as a self-report of prior fracture or severe injury to either knee. OA was defined using three variables: knee pain (pain, aching, or stiffness of the knee on most days), radiographic OA (rOA; Kellgren-Lawrence grade 2-4), and symptomatic OA (sxOA; knee rOA with knee pain). Joint hypermobility was defined as Beighton score ≥4. For each study, separate logistic regression models, stratified by joint hypermobility, were used to estimate the association of knee injury with knee pain, rOA, and sxOA, adjusting for age, sex, body mass index, and race (JoCoOA only); statistical interactions between injury and hypermobility were assessed (p-value<0.10). In all three studies, knee injury was associated with OA variables of knee pain, rOA, and sxOA (adjusted odds ratios [aOR] range 1.83-3.75). The association of knee injury with rOA and sxOA was magnified among individuals with vs. without joint hypermobility in GOGO: rOA aOR 11.0, 95% confidence interval [CI] 4.0-30.1 vs. 2.7, 95% CI 2.0-3.6, p=0.009; sxOA aOR 9.2, 95% CI 3.5-24.3 vs. 3.3, 95% CI 2.4-4.4, p=0.032. Interactions were not statistically significant in GO or JoCoOA. In a general adult population, the presence of joint hypermobility may not modify the strong association between knee injury and OA.

Joint hypermobility in children with and without functional constipation.

Background:Previous studies report an association between joint hypermobility (JH), as a hallmark of connective tissue disorder, and autonomic dysfunction, digestive problems, and irritable bowel syndrome. However, its association with functional constipation (FC) has not been evaluated. This study is run and implemented to justify this theme/topic.Materials and Methods:In this case–control study among 200 subjects, 100 were of FC according to the ROME III Criteria (case group) and each child was matched for age and gender with a healthy control that did not meet criteria for FC (control group). The demographic information and JH were assessed and compared in both groups, through a physical examination according to the Beighton score.Results:A total of 200 children with a mean age of 6.2 ± 2.2 years constituted the statistical population. The prevalence of JH was assessed to establish the Beighton score (≥4 was considered JH). There was no significant difference in JH between children with and without FC, odds ratio (OR) 1.13 (95% confidence interval [CI]: 0.65–1.98, P = 0.669). There was no significant difference in terms of gender and age between the two groups (P = 0.887, P = 0.396, respectively). JH was not significantly associated with gender (P = 0.445) while significantly associated with age (P = 0.041). Furthermore, there was no significant association between JH and FC (P = 0.669). Following multivariate logistic regression analysis between the presence of JH as the dependent variable and the measured variables as the independent variables, only age had significant independent predictive values in the development of JH (P = 0.041, OR =0.88 [0.77–1]). The obtained adjusted OR in this study indicated that at each year age increase the JH risk decreased by 12%.Conclusion:Here, it is revealed that the relative frequency of JH in this age range, with and without FC, is not significantly different, and it is not significantly associated with gender while significantly associated with age.

Hipermovilidad articular determinada por el Test de Beighton en estudiantes universitarios

Introduction: Joint hypermobility (JHM) implies an increased range of motion that exceeds what is considered normal for the examined joint. Objetive: To determine the frequency of JHM in first-year medical students of the Facultad de Ciencias Medicas of Universidad Nacional de Asuncion (FCM-UNA) and its association to gender. Methods: Cross-sectional observational study. A physical examination was performed using the Beighton scoring system. Individuals who scored 4 or more points were considered to have JHM. Results: 100 students were included. 38% scored at least 4 points to diagnose them with JHM. 1% met all criteria. The item that evaluates forward bending of the spine was the most frequent among students. 84.2% of the individuals with criteria for JHM were women. There is a significant difference between the presence of JHM between women and men (p = 0.001). Conclusion: There is a substantial amount of individuals who meet JHM criteria among first-year medical students of the FCM-UNA. Women were identified with JHM more frequently than men.

Generalized joint hypermobility does not influence clinical outcomes following isolated MPFL reconstruction for patellofemoral instability.

Generalized joint hypermobility (GJH) has frequently been described as a risk factor for patellofemoral instability; however, only a few primary research studies have demonstrated any evidence of a relationship. The primary purpose of this study was to determine if isolated proximal soft tissue stabilization for patellofemoral instability is as successful in patients with GJH compared those without, as measured by disease-specific quality-of-life (QOL), symptom scores and functional outcomes. The secondary purpose was to determine if clinical and patient-reported outcomes were influenced by patient demographic factors in the presence of joint hypermobility. Between 2009 and 2014, data were collected on 174/193 knees (92% follow-up) following an isolated medial patellofemoral ligament reconstruction (MPFL-R). Patients with a Beighton score of 4 or greater were classified as positive for GJH, and any score of 3 or less was classified as negative. Pre- and post-operative Banff Patella Instability Instrument (BPII) scores were compared using a two-sample t test to determine the influence of GJH on QOL. The relationship between the Beighton score, and demographic and clinical factors was explored using correlational analysis. Functional testing including balance and single-leg hop testing was conducted 1and 2years post-operatively. Limb symmetry and mean limb-to-limb performance differences were calculated. In this cohort of isolated MPFL reconstructions, 55.1% had a positive Beighton score. There were seven surgical failures (3.6%). There was no evidence of a relationship between a positive Beighton score and pre-operative BPII scores, post-operative BPII scores or post-operative symptom scores. GJH did not correlate significantly with any post-operative functional testing measures. A positive Beighton score was inversely related to patient age and more prevalent in females. This study determined that the presence of GJH did not influence disease-specific quality of life, physical symptom score or functional outcomes following MPFL reconstruction. III.

Collagen VI related myopathies. When to suspect, how to identify. The contribution of muscle magnetic resonance

Myopathies secondary to collagen VI mutations (COLVI-M) are the most frequent in the northern hemisphere, affecting the adult and pediatric population. There are no data on its prevalence in Latin America. They are characterized by a great clinical variability, from severe phenotypes, such as Ullrich congenital muscular dystrophy (UCMD), to intermediate and mild ones such as Bethlem myopathy (BM). Its onset is also variable and extends from the neonatal period to adulthood. Given the presence of joint hypermobility, the differential diagnosis should be made with various connective tissue diseases. The classical diagnostic algorithm in many patients has been insufficient to guide the genetic study in an adequate way, and from this the muscular magnetic resonance imaging has emerged as a very useful tool for a better diagnostic approach of this and other muscular pathologies. This ob jective of this review is to study the forms of presentation, clinical characteristics, specific diagnostic study, differential diagnosis and management of one of the most frequent hereditary muscular patho logies, with emphasis on the contribution of muscle magnetic resonance imaging.

INFLUENCE OF JOINT HIPERMOBILITY ON POSTOPERATIVE RESULTS OF KNEE SURGERY.

ABSTRACTObjective:To evaluate the prevalence of joint hypermobility in patients undergoing knee surgery to treat traumatic injury to the meniscus and anterior cruciate ligament, and the influence of this hypermobility on postoperative results. Methods:This prospective study assessed joint hypermobility in patients who underwent surgical reconstruction of the anterior cruciate ligament (ACL), partial meniscectomy, or a procedure combining ACL reconstruction and partial meniscectomy during the period 2011-2015. The Beighton score was used to evaluate joint hypermobility and Tegner activity scale for postoperative assessment. Results:A total of 242 patients underwent surgery during the study period: 107 to treat ACL injuries, 75 to treat ACL injuries associated with meniscus injuries, and 60 to treat meniscus injuries. Of the total, 45 patients had joint hypermobility. We found no association between joint hypermobility and sex or type of injury. Postoperative Tegner scale results were not influenced by the presence of joint hypermobility. Conclusion:No association was found between joint hypermobility and the evaluated variables (gender and type of specific injury), and hypermobility did not have a negative impact on postoperative outcomes. Level of Evidence IV; Case series.

Joint hypermobility and oligoarticular juvenile idiopathic arthritis: What relationship?

Oligoarticular onset juvenile idiopathic arthritis (oJIA) is characterised by a prevalent lower limb involvement, antinuclear antibodies (ANA) positivity and high risk of anterior uveitis. As we observed that oJIA patients frequently present with joint hypermobility (JH), we investigated whether there was a relationship between oJIA and JH. Our series consisted of children with oJIA, as defined by the International League of Associations for Rheumatology criteria, for whom complete clinical data of at least 2 years' duration were available. Clinical and laboratory data, collected at disease onset and at the last follow-up, included: sex, age, presence of JH according to the Beighton score, disease activity, presence of uveitis, ANA, treatment and outcome. A total of 274 oligoarticular JIA patients (224 female, 50 male; mean age: 11.5) followed on average for 6.6 years, entered the study. The mean age at disease onset was 4.9 years, ANA were positive in 83.9% and uveitis occurred in 20.8%. JH was present in 70.8% of cases at onset, in 44.5% at the last evaluation. JH was more frequent in females (73.7%) than in males (58.0%) (P = 0.028). Uveitis was less frequent in hypermobile children both at diagnosis (17.5 vs. 28.7%, P = 0.037) and during overall disease course (23.7 vs. 36.3%, P = 0.034). Of 163 subjects with at least 5-year follow-up, the full clinical remission rate was significantly higher in JH patients (50.5%) than in those without JH (42.3%; P = 0.042). In patients with oligoarticular JIA, JH is more frequent than in healthy subjects, uveitis less frequent and the long-term outcome better.

Differences in body structure and function between patients with systemic lupus erythematosus and healthy individuals, with particular reference to joint hypermobility

Objectives: To explore differences in body structure and function in systemic lupus erythematosus (SLE) patients and controls, with particular reference to joint hypermobility, and to evaluate the usefulness of the Brighton criteria for diagnosing joint hypermobility syndrome (JHS) in SLE.Method: Female SLE patients were, according to age group, consecutively invited to participate in the study. Controls were healthy females matched for age. All individuals were examined by a physician according to the Brighton criteria, and by an occupational therapist and a physiotherapist to obtain the Beighton scores, overall joint mobility, and manifestations in body structure and function.Results: Sixteen (23%) SLE patients and 19 (27%) controls had a Beighton score ≥ 4 (non-significant, ns), and 39 (55%) individuals in the SLE group and 22 (31%) in the control group satisfied the Brighton criteria for JHS (p < 0.01). Many individuals in both groups exceeded the normative values for joint mobility in joints other than those included in the Beighton score. Stratifying for a Beighton score ≥ 4 vs. < 4, there were no significant differences in body structure or body function constituting JHS either in the SLE patients or in the controls.Conclusions: Although the presence of joint hypermobility in SLE patients was frequent, we could not verify that this caused excess manifestations in addition to the SLE symptoms.

Connective tissue problems and attention deficit and hyperactivity

The heritable disorders of the connective tissue are a group of genetic disorders affecting connective tissue matrix proteins that classically include Marfan syndrome (MFS), Ehlers–Danlos Syndrome (EDS), benign joint hypermobility syndrome and osteogenesis imperfecta (Grahame 2000). As connective tissue is found throughout the body, the clinical manifestations of these disorders are varied, including disturbances in different systems (skeletal, ocular, cardiovascular, etc.). A common feature of the heritable disorders of the connective tissue is joint hypermobility (JH), which is a highly heritable condition characterized by an increased range of motion of the joints as a consequence of connective tissue involvement. We encountered a 7-year-old boy addressed by teachers due to school problems. His mother suffer from MFS such as his maternal grandmother who died by cardiac complications. Considering familial antecedents, his morphotype (long bone overgrowth), JH and ocular problems, genetic testing for diagnostic purposes is planned. No history of abnormalities in pregnancy and in the early years was reported. The first problems appear around age 5. These include concentration problems, impulsivity, hyperactivity, opposition to follow instructions given by teachers and difficulties to read and write. His mother also had graphomotor difficulties. The psychometric assessment reveals a normal-range intellectual performance. Hyperactive, inattentive and impulsive behaviors were confirmed in clinical evaluation, and although this symptomatology not met criteria for Attention Deficit/Hyperactivity Disorder (ADHD), these symptoms are problematic and merit attention. The link between connective tissue problems and anxiety disorders has been widely documented (Bulbena et al. 2011). Though less known, the association with attention deficit and hyperactivity has been pointed out by several clinicians and researchers in the last years. Hofman et al. (1988) reported a high frequency of neuropsychological deficits (50 %) among children with MFS (n = 30), of whom 17 % had attention deficit disorder with or without hyperactivity and 13 % learning disabilities. Besides, these authors highlighted that hand-wrist hypermobility might explain difficulties involve in writing and others performance tasks (object assembling, coding, etc.). In this sense, Kirby and Davies (2006) stressed the importance to take into account the presence of JH in therapy indication: ‘‘repetitive practice may not improve performance for children with this presentation, but instead could cause pain and further stiffness’’ (p. 517). Furthermore, Lannoo et al. (1996) reported that MFS patients have a poorer performance than controls in tests measuring sustained visual attention and visuoconstruction. These authors underline that these differences are not explained by visual problems linked to MFS. The pediatrician MJ Harris (1998) observed in 200 children with attention deficit disorder and ADHD that the great majority (99 %) had hypermobile joints mainly in the fingers and elbows. This author speculates C. Baeza-Velasco (&) M. Soussana A. Baghdadli Department of Child and Adolescent Psychiatry, CHU Montpellier, 39 Avenue Charles Flahaut, 34295 Montpellier Cedex 05, France e-mail: carolina.baeza-velasco@parisdescartes.fr

Association between joint hypermobility, scoliosis, and cranial base anomalies in paediatric Osteogenesis imperfecta patients: a retrospective cross-sectional study.

BackgroundJoint hypermobility is a common clinical characteristic of patients with Osteogenesis imperfecta (OI), a disorder with serious comorbidities of scoliosis and cranial base anomalies. This study aimed at evaluating how prevalent joint hypermobility is in paediatric OI patients, and to find out whether it serves as a potential predictive marker of the different spinal complications; scoliosis and craniovertebral anomalies (basilar impression and basilar invagination).MethodsIn this cross-sectional one-center study we analysed retrospectively clinical patient records and radiographs of 47 OI patients, aged 1–19 years, some of whom were treated with bisphosphonates. Presence of joint hypermobility, scoliosis, and craniovertebral anomalies was recorded and possible connections between the phenomena were explored with correlation analysis.ResultsJoint hypermobility was found in 70% of the patients. Scoliosis and cranial base anomalies had developed in 26%. The presence of spinal complications was independent of the bisphosphonate treatment status and joint hypermobility.ConclusionsScoliosis and craniovertebral anomalies are strongly associated in paediatric OI patients. Joint hypermobility that is much more common appears, however, to be a poor predictor.Electronic supplementary materialThe online version of this article (doi:10.1186/1471-2474-15-428) contains supplementary material, which is available to authorized users.

Joint hypermobility in children with idiopathic scoliosis: SOSORT award 2011 winner

BackgroundGeneralized joint hypermobility (JHM) refers to increased joint mobility with simultaneous absence of any other systemic disease. JHM involves proprioception impairment, increased frequency of pain within joints and tendency to injure soft tissues while performing physical activities. Children with idiopathic scoliosis (IS) often undergo intensive physiotherapy requiring good physical capacities. Further, some physiotherapy methods apply techniques that increase joint mobility and thus may be contraindicated.The aim of this paper was to assess JHM prevalence in children with idiopathic scoliosis and to analyze the relationship between JHM prevalence and the clinical and radiological parameters of scoliosis. The methods of assessment of generalized joint hypermobility were also described.Materials and methodsThis case-control study included 70 subjects with IS, aged 9-18 years (mean 13.2 ± 2.2), Cobb angle range 10°-53° (mean 24.3 ± 11.7), 34 presenting single curve thoracic scoliosis and 36 double curve thoracic and lumbar scoliosis. The control group included 58 children and adolescents aged 9-18 years (mean 12.6 ± 2.1) selected at random. The presence of JHM was determined using Beighton scale complemented with the questionnaire by Hakim and Grahame. The relationship between JHM and the following variables was evaluated: curve severity, axial rotation of the apical vertebra, number of curvatures (single versus double), number of vertebrae within the curvature (long versus short curves), treatment type (physiotherapy versus bracing) and age.Statistical analysis was performed with Statistica 8.1 (StatSoft, USA). The Kolmogorov-Smirnov test, U Mann-Whitney test, Chi2 test, Pearson and Spermann correlation rank were conducted. The value p = 0.05 was adopted as the level of significance.ResultsJHM was diagnosed in more than half of the subjects with idiopathic scoliosis (51.4%), whilst in the control group it was diagnosed in only 19% of cases (p = 0.00015). A significantly higher JHM prevalence was observed in both girls (p = 0.0054) and boys (p = 0.017) with IS in comparison with the corresponding controls. No significant relation was found between JHM prevalence and scoliosis angular value (p = 0.35), apical vertebra rotation (p = 0.86), the number of vertebrae within curvature (p = 0.8), the type of applied treatment (p = 0.55) and the age of subjects (p = 0.79). JHM prevalence was found to be higher in children with single curve scoliosis than in children with double curve scoliosis (p = 0.03).ConclusionsJHM occurs more frequently in children with IS than in healthy sex and age matched controls. No relation of JHM with radiological parameters, treatment type and age was found. Systematically searched in IS children, JHM should be taken into account when physiotherapy is planned.

Laxitud articular: prevalencia y relación con dolor musculosquelético

(1) To determine the prevalence of joint hypermobility in children aged 4-14 years old without organic disease of the locomotor system; (2) to compare the prevalence of hypermobility in children with and without arthralgia and (3) to analyze the influence of certain variables on the development of arthralgia. We performed an observational study in a sample of children aged 4-14 years old living in Area 4 of the Community of Madrid (Spain). Joint hypermobility was evaluated using a goniometer. Hypermobility was defined using Beighton's criteria. A total of 222 subjects were analyzed: 176 in the primary care setting and 46 in the emergency department of a referral hospital. Of the 222 children, 43 reported arthralgia. The prevalence of hypermobility (> or = 4 criteria) was 55 % (123/222), reaching 71 % (49/69) in children aged less than 8 years. No significant differences were found in the prevalence of hypermobility in children with and without arthralgia (65 % and 53 % respectively). Of the variables analyzed (age, sex, country of origin, primary care/emergency department setting) only differences in the absolute number of Beighton criteria present in children with and without arthralgia (4.34 +/- 2.47 and 3.48 +/- 2.35, p = 0.03) were detected, which disappeared when at least four criteria (definition of hypermobility) were required. Fifty-five percent of the population studied and 71 % of those younger than 8 years old met the criteria for joint hypermobility. In the sample analyzed, the presence of joint hypermobility did not seem to favor the development of arthralgias.

Densidade mineral óssea em crianças: associação com dor músculo-esquelética e/ou hipermobilidade articular

Joint hypermobility can be associated with benign musculoskeletal pain. The relation between hypermobility and low bone mineral density is still unknown. Osteoporosis can be observed in some genetic syndromes associated with joint hypermobility. The aim of our study was to detect the possible relation between joint hypermobility, benign musculoskeletal pain and bone mineral density in children. Ninety-three children from 5 to 10 years of age were evaluated concerning the presence of joint hypermobility and the presence of musculoskeletal pain based on a questionnaire directed to parents. We also performed densitometry to measure bone mineral density. All children underwent an L2-L4 lumbar bone densitometry. Children were distributed into four groups according to the presence or not of joint hypermobility associated or not with musculoskeletal pain: 29 (31.2%) with hypermobility and pain, 20 (21.5%) with hypermobility and without pain, 22 (23.6%) without hypermobility and with pain and 22 (23.6%) without hypermobility and without pain (control group). Twenty-four children (25.8%) presented reduction in bone mineral density over 10% related to the adequate bone mineral density for age and gender. Bone mineral density was significantly lower in relation to the controls in the following groups: with hypermobility (independently of the presence of pain), with pain (independently of the presence of hypermobility), with hypermobility and without pain and without hypermobility and with pain. Bone mineral density may be lower in children with joint hypermobility (independently of musculoskeletal pain) and in children with pain (independently of hypermobility) when compared to controls.

Neuropsychological aspects of Marfan syndrome

We evaluated the neuropsychological status of 13 adults patients with Marfan syndrome. All subjects were administered the same neuropsychological test battery that included nine measures covering a broad range of cognitive abilities such as attention and concentration, learning and memory, and verbal and non-verbal abilities. Compared to a control group of 13 healthy subjects matched for sex, age and verbal intelligence, Marfan patients only performed significantly worse on tests measuring sustained visual attention and visuoconstruction. Although these tests use visual material and depend on visual perception and processing, the visual acuity problems associated with the syndrome could not explain these differences, nor could the use of beta-blocking medication or the presence of joint hypermobility. The findings suggest that problems with sustained visual attention and visuoconstruction may be present in Marfan syndrome over and above visual acuity problems and other phenomena associated with the disease. Further research on the neuropsychological aspects of Marfan syndrome is needed, using larger patient groups and more adequate control groups such as non-affected siblings and matched controls with similar visual impairment.