Capacity Assessment of Prosthetic Performance for the Upper Limb (CAPPFUL): Characterization of Normative Kinematics and Performance.

BACKGROUND: Evaluation of maladaptive compensatory movement is important to objectively identify the impact of prosthetic rehabilitative intervention on body mechanics. The Capacity Assessment of Prosthetic Performance for the Upper Limb (CAPPFUL) scores this type of compensation by comparing movements of the prosthesis user to movements of individuals with intact, sound upper limbs (ULs). However, expected movements of individuals with sound, intact ULs have not been studied for the set of tasks performed in the CAPPFUL. OBJECTIVE: To enhance the scoring approach for the maladaptive compensatory movement domain of the CAPPFUL by defining normative kinematic movement and characterizing variability and repeatability. DESIGN: Clinical measurement. SETTING: Laboratories at the U.S. Food and Drug Administration (FDA) and University of Texas-Arlington. PARTICIPANTS: Convenience sample of 20 participants with no upper limb (UL) disability or impairment. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASUREMENTS: Kinematic trajectories, range of motion, maximum angle, and completion time were calculated. Repeatability and intersubject variability were assessed by calculating Pearson's correlation coefficient (R), adjusted coefficient of multiple correlation (CMCadj), and max SD (SDmax) for nine joint angles at the elbow, shoulder, neck, and torso. RESULTS: For most joints evaluated, repeatability was lower (R < 0.8) for CAPPFUL 3-Zip vest, CAPPFUL 7-Cut w/ knife, and CAPPFUL 8-Squeeze water, implying inconsistent approaches within a subject from trial to trial for a given task. For most tasks, the joint angle SDmax across all participants was <20°. The approach for completing CAPPFUL 1 - Weights in crate and CAPPFUL 4 - Pick up dice was generally similar across participants (CMCadj >0.4). For other tasks, however, different approaches across participants at the torso and shoulder joint can be seen. CONCLUSION(S): This work established the expected movements of individuals with sound, intact ULs for tasks performed in the CAPPFUL that can be used to inform consistent, standardized scoring of the maladaptive compensatory movement domain.

Williams-Beuren syndrome in diverse populations.

Williams-Beuren syndrome (WBS) is a common microdeletion syndrome characterized by a 1.5Mb deletion in 7q11.23. The phenotype of WBS has been well described in populations of European descent with not as much attention given to other ethnicities. In this study, individuals with WBS from diverse populations were assessed clinically and by facial analysis technology. Clinical data and images from 137 individuals with WBS were found in 19 countries with an average age of 11 years and female gender of 45%. The most common clinical phenotype elements were periorbital fullness and intellectual disability which were present in greater than 90% of our cohort. Additionally, 75% or greater of all individuals with WBS had malar flattening, long philtrum, wide mouth, and small jaw. Using facial analysis technology, we compared 286 Asian, African, Caucasian, and Latin American individuals with WBS with 286 gender and age matched controls and found that the accuracy to discriminate between WBS and controls was 0.90 when the entire cohort was evaluated concurrently. The test accuracy of the facial recognition technology increased significantly when the cohort was analyzed by specific ethnic population (P-value < 0.001 for all comparisons), with accuracies for Caucasian, African, Asian, and Latin American groups of 0.92, 0.96, 0.92, and 0.93, respectively. In summary, we present consistent clinical findings from global populations with WBS and demonstrate how facial analysis technology can support clinicians in making accurate WBS diagnoses.