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Characterizing upper limb function in the context of activities of daily living in CLN3 disease.

ABSTRACT: In CLN3 disease, impairments in motor function are frequently reported to have later onset compared to visual and cognitive decline, but upper limb motor function has yet to be explored in this population. In a cohort of 22 individuals with CLN3, we used a novel application of multiple measures to (1) characterize motor function, particularly of the upper limbs, in activities of daily living (ADLs), and (2) explore associations between motor function and age as well as visual ability, disease severity, and cognitive function, as evaluated by the Unified Batten Disease Rating Scale (UBDRS), a validated CLN3 disease measure. ADLs that required coordination, speed, and fine motor control were particularly challenging for children with CLN3 based on item-level performance across direct assessments (Jebsen-Taylor Hand Function Test [JTHFT] and MyoSet Tools) and caregiver reports (Pediatric Evaluation of Disability Inventory-Computer Adaptive Testing [PEDI-CAT] and Patient-Reported Outcomes Measurement Information System [PROMIS] Pediatric Upper Extremity). Poorer visual ability, disease severity, and cognitive function were associated with worse performance on these measures, whereas age had limited impact. These findings support the need for children with CLN3 to receive skilled clinical evaluation and treatment tailored to their individual needs, particularly in the context of ADLs, as their symptom profile progresses.

SUBMITTER: Hildenbrand H

PROVIDER: S-EPMC9406240 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature

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Characterizing upper limb function in the context of activities of daily living in CLN3 disease.

Hildenbrand Hanna H Wickstrom Jordan J Parks Rebecca R Zampieri Cris C Nguyen Thuy-Tien TT Thurm Audrey A Jenkins Kisha K Alter Katharine E KE Matsubara Jesse J Hammond Dylan D Soldatos Ariane A Porter Forbes D FD Dang Do An N AN

American journal of medical genetics. Part A 20210208 5

In CLN3 disease, impairments in motor function are frequently reported to have later onset compared to visual and cognitive decline, but upper limb motor function has yet to be explored in this population. In a cohort of 22 individuals with CLN3, we used a novel application of multiple measures to (1) characterize motor function, particularly of the upper limbs, in activities of daily living (ADLs), and (2) explore associations between motor function and age as well as visual ability, disease se ...[more]

PMID: 33559393

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Project description:Percutaneous osseointegrated (OI) implants for direct skeletal attachment of upper extremity prosthetics represent an alternative to traditional socket suspension that may yield improved patient function and satisfaction. This is especially true in high-level, transhumeral amputees where prosthetic fitting is challenging and abandonment rates remain high. However, maintaining mechanical integrity of the bone-implant interface is crucial for safe clinical introduction of this technology. The collection of population data on the transhumeral loading environment will aid in the design of compliance and overload protection devices that mitigate the risk of periprosthetic fracture. We collected marker-based upper extremity kinematic data from non-amputee volunteers during advanced activities of daily living (AADLs) that applied dynamic loading to the humerus. Inverse dynamic analysis was applied to calculate the axial force, bending and torsional moments at three virtual amputation levels representing 25, 50, and 75% residual humeral length. The influences of amputation level, elbow flexion constraint, gender and anthropometric scaling were assessed. Results indicate that the proximal (25%) amputation level experienced significantly higher axial forces and bending moments across all subjects when compared to distal amputation levels (p≤0.030). Constraining elbow flexion had a limited influence on peak transhumeral loads. Male subjects experienced higher axial forces during all evaluated activities (p≤0.023). Peak axial force for all activities occurred during jumping jacks (174.5N). Peak bending (57.6Nm) and torsional (57.2Nm) moments occurred during jumping jacks and rapid internal humeral rotation, respectively. Calculated loads fall within the range of implant fixation failure loads reported in cadaveric investigations of humeral stem fixation; indicating that periprosthetic fracture may occur during non-contact AADLs. These kinematic data, collected over a range of AADLs, will aid in the development of overload protection devices and appropriate post-operative rehabilitation protocols that balance return to an active lifestyle with patient safety.

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Characterizing upper limb function in the context of activities of daily living in CLN3 disease.

Publications

Characterizing upper limb function in the context of activities of daily living in CLN3 disease.

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