Vision-based Assessment of Joint Extensibility in Ehlers Danlos Syndrome

Study Overview
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Brief Summary
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Ehlers Danlos Syndrome (EDS) is a heterogenous group of genetic disorders with 13 identified subtypes. Hypermobile EDS (hEDS), although the most common subtype of EDS, does not yet have an identified genetic mutation for diagnostic confirmation. Generalized joint hypermobility (GJH) is one of the hallmark features of hEDS. The scoring system used in measurement of GJH was described by Beighton. The Beighton score is calculated using a dichotomous scoring system to assess the extensibility of nine joints. Each joint is scored as either hypermobile (score = 1) or not hypermobile (score = 0). The total score (Beighton score) can vary between a minimum of 0 and a maximum of 9, with higher scores indicating greater joint laxity. While there is moderate validity and inter-rater variability in using the Beighton score, there continue to be several challenges with its widespread and consistent application by clinicians. Some of the barriers reported in the literature include: i) In open, non-standardized systems there can be significant variation in the method to perform these joint extensibility tests including assessing baseline measurements, ii) Determining consistent and standard measurement tools/methodology e.g. goniometer use can vary widely iii) Assessing the reliability of the cut off values and, iv) Performing full assessment prior to informing patients of possible classification of GJH positivity (low specificity and low positive predictive). Inappropriate implementation of tests to assess GJH results in inaccurate identification of GJH and potentially unintended negative consequences of making the wrong diagnosis of EDS. The objective of this study is to create a more robust and valid method of joint mobility measurement and reduce error in the screening of EDS through use of a smartphone-based machine learning application systems for measurement of joint extensibility. The project will: i) Create a smart-phone enabled visual imaging app to assess the measurement of joint extensibility, ii) Assess the feasibility of using the smart-phone app in a clinical setting to screen potential EDS patients, iii) Determine the validity of the application in comparison to in person clinical assessment in a tertiary care academic EDS program. If successful, the smart-phone application could help standardize the care of potential EDS patients in an efficient and cost-effective manner.

Official Title
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Assessing the Feasibility of a Smartphone-based, Machine Learning Visual Imaging Application for Assessment of Hyperextensibility of Peripheral Joints in Ehlers Danlos Syndrome

Conditions
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Ehlers-Danlos Syndrome

Intervention / Treatment
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* Other: No intervention, additional video data collection only


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: All patients seen in the GoodHope EDS clinic at Toronto General are eligible for inclusion, regardless of their presenting diagnosis or the results of their assessments Exclusion Criteria: Patients who do not consent to participate will not be included (participants may withdraw consent at any time)

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| New patients at the GoodHope EDS clinic at Toronto General Hospital<br>All patients seen in the EDS clinic are eligible for inclusion, regardless of their presenting diagnosis or the results of their assessments. | Other: No intervention, additional video data collection only<br>* No intervention will be used. Consenting participants will have video recordings taken during their exam of joint hypermobility which will be analyzed at a later time<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Comparison of agreement in predicted angle by pose-estimation library | The performance of the developed machine learning models for predicting the range of motion will be analyzed by the pose-estimation library used. This analysis will be performed on the subset of the data collected during the first 2 months of data collection. This information will be used to select the pose-estimation libraries to proceed with when refining the machine learning models. | 4 months | 
| Comparison of agreement in predicted angle by joint | The performance of the developed machine learning models for predicting the range of motion at each joint (spine, knee, ankle, elbow, shoulder, thumb, fifth finger) will be analyzed independently for each joint. This will provide insight with respect to which joints the system is more accurate at predicting from video. | 1 year | 
| Assess the accuracy of range of motion prediction using vision-based data | Machine learning models trained on videos of individuals performing the joint hypermobility maneuvers will be developed. Their performance will be compared to the range of motion measured by an expert clinician using a goniometer. | 1 year | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Ehlers-Danlos Syndrome, Computer-vision, Video, Smartphone, Beighton Score, Joint Range of Motion