OBJECTIVE: To develop a new tool for identifying joint hypermobility of the paediatric foot and ankle, based on a dichotomous scoring system utilising the Lower Limb Assessment Score (LLAS), to separate the foot and ankle items.
METHODS: A total of 205 children, aged between 5 and 10 years, participated in a cross-sectional study. The new tool Foot and Ankle Flexibility Index (FAFI) was predicated upon the last 7 items of LLAS, which are specific to the foot and ankle. The internal consistency was measured with Cronbach\'s test. Kappa statistics with 95% CI were calculated to verify the level of inter-rater and intra-rater agreement for the FAFI.
RESULTS: Cronbach\'s alpha returned 0.82. The correlations between items returned a mean of 0.59 (range: 0.43-0.74). The discrimination score on the ROC curve (4 points) showed that the model can be used to identify children with joint hypermobility of the foot and ankle. Inter-rater reliability was largely good (ICC = 0.89). Excellent intra-rater reliability was found (ICC = 0.96) CONCLUSIONS: This study identified high reliability between evaluators, and high sensitivity and specificity, for a new reliable and valid tool for the identification of foot and ankle joint hypermobility.

Complex musculoskeletal complications in children with hypermobility spectrum disorder (HSD) include pain, proprioception deficits, and joint instability, which may result in movement dysfunction during walking. However, no studies have explored the inter-joint coordination deficits in children with HSD. The purpose of this study was to determine the lower extremity inter-joint coupling angles, patterns, and variability during walking in children with HSD compared to children without HSD (non-HSD). Ankle, knee, and hip kinematics during the stance phase of walking in 18 children with HSD and 18 children without HSD were measured using three-dimensional motion analysis. Coupling angles, patterns, and variability of hip-knee, hip-ankle, and knee-ankle were quantified in the sagittal, frontal, and transverse planes using vector coding techniques. Statistical modeling of coupling angles on sine and cosine scales and bootstrapped standard errors were used to compare coupling angles between HSD and non-HSD groups. Permutational multivariate analysis of variance and statistical non-parametric mapping two-sample t-tests were used to compare the coupling patterns and variability between HSD and non-HSD groups, respectively. Our results indicated that coupling angles, patterns, and variability were not significantly different between the groups. These findings suggest that lower extremity inter-joint coordination and its variability during walking might not be a promising area for further research or intervention in children with HSD. Further research could use other biomechanical methods to investigate coordination deficits in pediatric patients with HSD, and how aging and disease progression are associated with coordination deficits in individuals with HSD.

[This corrects the article DOI: 10.3389/fresc.2024.1280582.].

Current international consensus of the appropriate Beighton score cut-off to define if a child has generalised joint hypermobile or not is based upon expert opinion. Our aim was to determine the prevalence of Beighton scores of children worldwide to provide a recommendation for establishing the Beighton score cut-off to identify generalised joint hypermobility in children. We used AMED, OVID Medline, Embase and CINAHL to find published articles from inception to April 2024 describing Beighton scores of children up to and including 18 years from the general population. We extracted study demographics including country of publication, total number of participants, summary data about the age and sex of participant, Beighton scores and any cut-off used where authors deemed children hypermobile and how many children were rated at the corresponding Beighton scores. There were 37 articles reporting on the prevalence or incidence of hypermobility at cut-off scores from 28,868 participants. Using the cut-off of ≥ 6 resulted in a prevalence of 6% for studies reporting male data and 13% for studies reporting female data. Limited data reporting availability precluded further sub-analysis at a Beighton score of ≥ 7, age, pubertal status and ethnicity.    Conclusion: The working threshold for identifying generalised joint hypermobility in children should be a Beighton score of 6 or more. Our analysis also suggests a Beighton score of 7 or greater may be appropriate in childhood, particularly for females. What is Known: • The working threshold for identifying generalised joint hypermobility in children previously was set based on expert opinion. What is New: • The threshold to identify hypermobility in children should be at a minimum of ≥ 6 on the Beighton score.

UNASSIGNED: Hypermobility describes the movement of joints beyond normal limits. Whether hypermobility predisposes to patellar instability is yet to be established. We aimed to determine if joint hypermobility leads to an increased risk of patellar instability, and to evaluate outcomes of treatment for patellar instability in those who exhibit hypermobility.
UNASSIGNED: Published and unpublished literature databases were searched to September 7, 2023. Studies comparing prevalence of patellar dislocation/differences in treatment outcomes in patients with and without hypermobility were included.
UNASSIGNED: We identified 18 eligible studies (4,391 patients). The evidence was low in quality. A case series on 82 patients found that there was a relationship between generalised joint laxity and patellar instability. This was corroborated by a study comparing 104 patients with patellar dislocation to 110 patients without. Prevalence of generalised joint laxity was six time higher in the former (64.4% vs 10.9%, p < 0.001).Five studies found surgical intervention aimed at correcting patellar dislocation in patients with idiopathic hypermobility led to satisfactory outcomes. There was conflicting evidence regarding if hypermobile patients have worse outcomes than non-hypermobile patients following medial patellofemoral ligament reconstruction (MPFLR) in two studies. In addition, this procedure had a 19.1% failure rate in patients with Ehlers Danlos Syndrome (EDS), with hypermobility associated with a higher failure rate (p = 0.03). One study showed the type of graft used made no difference in outcome scores or re-dislocation rates (p > 0.5). Another study had 7/31 (22.6%) autografts which failed, compared to 2/16 allografts (12.5%) (p = 0.69).
UNASSIGNED: Joint hypermobility is a risk factor for patellar instability. Identification of at-risk groups may aid prevention of dislocations and allow for appropriate treatment. Patients with EDS experience poor outcomes following patellar stabilization surgery, with post-operative monitoring required.

Kagami-Ogata syndrome (KOS) is a clinically recognizable syndrome in the neonatal period. It is characterized by specific skeletal anomalies and facial dysmorphisms. It is typically caused by paternal uniparental disomy of chromosome 14, while epimutations and microdeletions are less commonly reported causes. In the pediatric setting, KOS is a well delineated syndrome. However, there is a dearth of literature describing the natural history of the condition in adults. Herein, we describe a 35-year-old man, the first adult with KOS reported due to paternal uniparental disomy 14, and review reports of KOS in other affected adults. This highlights the variability in neurocognitive phenotypes, the presence of connective tissue abnormalities, and the uncertainties around long-term cancer risk.

Background: The natural history of spinal muscular atrophy (SMA) is well understood, with progressive muscle weakness resulting in declines in function. The development of contractures is common and negatively impacts function. Clinically, joint hypermobility (JH) is observed but is poorly described, and its relationship with function is unknown. Methods: Lower-limb ROM (range of motion) assessments of extension and flexion at the hip, knee, and ankle were performed. ROMs exceeding the published norms were included in the analysis. The functional assessments performed included the six-minute walk test (6 MWT) and the Hammersmith Functional Motor Scale-Expanded (HFMSE). Results: Of the 143 participants, 86% (n = 123) had at least one ROM measure that was hypermobile, and 22% (n = 32) had three or more. The HFMSE scores were inversely correlated with hip extension JH (r = -0.60, p = 0.21; n = 6) and positively correlated with knee flexion JH (r = 0.24, p = 0.02, n = 89). There was a moderate, inverse relationship between the 6 MWT distance and ankle plantar flexion JH (r = -0.73, p = 0.002; n = 15). Conclusions: JH was identified in nearly all participants in at least one joint in this study. Hip extension, knee flexion and ankle plantar flexion JH was associated with function. A further understanding of the trajectory of lower-limb joint ROM is needed to improve future rehabilitation strategies.

UNASSIGNED: The Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders characterized by disruptions in collagen synthesis and processing. These disorders lead to various symptoms, including hypermobility, musculoskeletal conditions, and chronic pain that can significantly limit patients\' daily living. In the absence of a curative treatment, an EDS specific disability index that tracks changes in patient-reported outcomes can facilitate the investigation of new treatment options and enhance the quality of life for EDS patients.
UNASSIGNED: An EDS-specific disability index was created using survey data and input from clinicians. A total of 222 EDS patients in a multidisciplinary clinical program completed the index during their initial visit. Exploratory and confirmatory factor analyses were conducted to determine the index\'s factor solution and assess its goodness-of-fit. Paired t-tests were performed with follow-up visit data collected over the course of one year.
UNASSIGNED: The exploratory and confirmatory factor analyses indicated a two-factor solution, accounting for 42.40% of the variance. The index demonstrated adequate fit to the data, supported by Tucker and Lewis\'s index (0.85) and root mean square error of approximation (0.1). Data from follow-up visits showed significant improvement in three symptom related variables and one function related variable in addition to the total score and the symptom subscale score when compared to the initial visit.
UNASSIGNED: The development of an EDS-specific disability index is a crucial step in creating a clinical tool that enables healthcare professionals to gain a deeper understanding of the impact EDS has on patients\' lives and potentially identify new therapeutic interventions.

OBJECTIVE: The authors present a finite element analysis (FEA) evaluating the mechanical impact of C1-2 hypermobility on the spinal cord.
METHODS: The Code_Aster program was used to perform an FEA to determine the mechanical impact of C1-2 hypermobility on the spinal cord. Normative values of Young\'s modulus were applied to the various components of the model, including bone, ligaments, and gray and white matter. Two models were created: 25° and 50° of C1-on-C2 rotation, and 2.5 and 5 mm of C1-on-C2 lateral translation. Maximum von Mises stress (VMS) throughout the cervicomedullary junction was calculated and analyzed.
RESULTS: The FEA model of 2.5 mm lateral translation of C1 on C2 revealed maximum VMS for gray and white matter of 0.041 and 0.097 MPa, respectively. In the 5-mm translation model, the maximum VMS for gray and white matter was 0.069 and 0.162 MPa. The FEA model of 25° of C1-on-C2 rotation revealed maximum VMS for gray and white matter of 0.052 and 0.123 MPa. In the 50° rotation model, the maximum VMS for gray and white matter was 0.113 and 0.264 MPa.
CONCLUSIONS: This FEA revealed significant spinal cord stress during pathological rotation (50°) and lateral translation (5 mm) consistent with values found during severe spinal cord compression and in patients with myelopathy. While this finite element model requires oversimplification of the atlantoaxial joint, the study provides biomechanical evidence that hypermobility within the C1-2 joint leads to pathological spinal cord stress.

BACKGROUND: Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders caused by fragile lax collagen. Current EDS research lacks racial and ethnic diversity. The lack of diversity may be associated with the complexities of conducting a large international study on an underdiagnosed condition and a lack of EDS health care providers who diagnose and conduct research outside of the United States and Europe. Social media may be the key to recruiting a large diverse EDS sample. However, studies that have used social media to recruit have not been able to recruit diverse samples.
OBJECTIVE: This study aims to discuss challenges, strategies, outcomes, and lessons learned from using social media to recruit a large sample of females with EDS.
METHODS: Recruitment on social media for a cross-sectional survey examining dyspareunia (painful sexual intercourse) in females was examined. Inclusion criteria were (1) older than 18 years of age, (2) assigned female at birth, and (3) diagnosed with EDS. Recruitment took place on Facebook and Twitter (now X), from June 1 to June 25, 2019.
RESULTS: A total of 1178 females with EDS were recruited from Facebook (n=1174) and X (n=4). On Facebook, participants were recruited via support groups. A total of 166 EDS support groups were identified, 104 permitted the principal investigator to join, 90 approved posting, and the survey was posted in 54 groups. Among them, 30 of the support groups posted in were globally focused and not tied to any specific country or region, 21 were for people in the United States, and 3 were for people outside of the United States. Recruitment materials were posted on X with the hashtag #EDS. A total of 1599 people accessed the survey and 1178 people were eligible and consented. The average age of participants was 38.6 (SD 11.7) years. Participants were predominantly White (n=1063, 93%) and non-Hispanic (n=1046, 92%). Participants were recruited from 29 countries, with 900 (79%) from the United States and 124 (11%) from Great Britain.
CONCLUSIONS: Our recruitment method was successful at recruiting a large sample. The sample was predominantly White and from North America and Europe. More research needs to be conducted on how to recruit a diverse sample. Areas to investigate may include connecting with more support groups from outside the United States and Europe, researching which platforms are popular in different countries, and translating study materials into different languages. A larger obstacle to recruiting diverse samples may be the lack of health care providers that diagnose EDS outside the United States and Europe, making the pool of potential participants small. There needs to be more health care providers that diagnose and treat EDS in countries that are predominantly made up of people of color as well as research that specifically focuses on these populations.
UNASSIGNED: RR1-10.2196/53646.