Characterization of physical, functional, and cognitive performance in 15 adults with hypophosphatasia.

OBJECTIVE: Given the small but growing body of literature related to physical functioning and the scarce data related to fine motor and cognitive functioning in adults with hypophosphatasia (HPP), our objective was to characterize physical, functional, and cognitive performance in adults with HPP. A future objective is to utilize this characterization to develop guidelines for evaluation by physical therapists (PT), occupational therapists (OT), and speech-language pathologists (SLP). METHOD: We evaluated physical, functional, and cognitive performance in 15 adults with HPP through standardized assessments of mobility, balance, fine motor control, activities of daily living, cognition, and self-reported measures of health-related quality of life, fatigue, depression, and anxiety. The median age at enrollment was 44 years (range 26-79 years). Among the participants, 11 (73%) were women. Five participants (33%) were on enzyme replacement therapy. RESULTS: Compared with the general population, HPP participants traveled shorter distances on the Six-Minute Walk Test (420 m (m) [SD: 132] vs 620 m [SD: 49], p < 0.00005), had slower gait on the 10-Meter Walk Test [HPP men (3.71 ft/s (f/s) [SD: 0.77] vs 4.70 f/s [SD: 0.14], p < 0.00005) and HPP women (3.39 f/s [SD: 0.67] vs 4.56 f/s [SD: 0.09], p < 0.00005)]. HPP participants had decreased upper extremity (UE) dexterity by Nine Hole Peg Test [right UE in HPP men (22.7 s (s) [SD: 2.3] vs 19.0 s [SD: 3.9], p = 0.03), left UE in HPP men (23.3 s [SD: 0.7] vs 19.8 s [SD: 3.7], p = 0.03), right UE in HPP women (19.8 s [SD: 2.0] vs 17.7 s [SD: 3.2], p = 0.01), and left UE in HPP women (21.1 s [SD: 2.5] vs 18.9 s[SD: 3.4], p = 0.02)], and some had abnormally slow bilateral UE reaction times via Dynavision (0.9 s [0.85,0.96], functional speed <1.15 s). On the Short Form-36 (SF36), HPP patients reported worse energy/fatigue (30.4 [SD 22.7] vs 52.2 [SD: 22.4], p = 0.0001), social functioning (54.5 [SD: 34.2] vs 78.8 [SD: 25.5], p = 0.0002), pain (46.1 [SD: 27.3] vs 70.8 [SD: 25.5], p = 0.0001), general health (36.8 [SD: 24.0] vs 57.0 [SD: 21.1], p = 0.0002), and health change i.e. perception of health improvement (32.1 [SD: 15.3] vs 59.1 [SD: 23.1], p < 0.00005) than the general population. Fatigue Severity Scale scores were well above the median for a healthy population (5.21 [SD: 1.8] vs 2.3 [SD: 1.21], p < 0.00005), indicating significant fatigue. HPP participants had significantly higher DASS scores for depression (8.5 [SD: 6.5] vs 5.0 [SD: 7.5], p = 0.02), anxiety (7.9 [SD: 6.7] vs 3.4 [SD: 5.1], p = 0.00009), and stress (14.7 [SD: 12.4] vs 8.1 [SD: 8.4], p = 0.0003) compared to the general population. CONCLUSION: Objective functional assessments demonstrated defects in physical functioning, including decreased ability to walk distances, slow gait speed, and diminished ability to repeatedly rise from a sitting position. In addition, participants self-reported significant limitations due to physical dysfunction. Decreased upper extremity dexterity may indicate problems with activities of daily living and delayed reaction times can have safety implications. Some patients with HPP have increased difficulties with depression, anxiety, and stress. PT, OT, and SLP specialists can aid in establishing baseline assessment of impairment and objective metrics for assessing efficacy of treatment.

Preliminary Assessment of a Hand and Arm Exoskeleton for Enabling Bimanual Tasks for Individuals With Hemiparesis.

The design and preliminary assessment of a semi-powered hand and arm exoskeleton is described. The exoskeleton is designed to enable bimanual activities of daily living for individuals with chronic, upper-limb hemiparesis resulting from stroke. Specifically, the device augments the user's grasp strength and ability to extend the affected hand for bimanual tasks and supplements wrist and elbow stability while conducting these tasks. The exoskeleton is battery-powered and self-contained with all electronics and power units placed within the device structure. A preliminary assessment of the exoskeleton was performed with three subjects having right-sided upper-limb motor deficit resulting from stroke. For subjects with limited hand and arm functionality, the exoskeleton increased grasp strength and improved the ability to perform representative bimanual tasks.

A Single-Joint Implementation of Flow Control: Knee Joint Walking Assistance for Individuals With Mobility Impairment.

This paper describes the implementation of a movement control method for lower limb exoskeletons with single-joint actuation. In such applications, the single-joint must coordinate movement with other non-controlled joints. The authors have previously proposed a multi-joint control method called a flow controller, which provides several desirable characteristics for such assistance. In this paper, the authors adapt the fundamentally multi-joint flow control approach to a system with a single actuated joint, but with multiple movement degrees of freedom. The single degree of actuation flow control method was implemented on a representative system, specifically a knee exoskeleton that coordinates assistance with ipsilateral thigh movement during walking. The ability of the controller and knee exoskeleton to appropriately influence knee movement was evaluated in level walking experiments on three subjects with unilateral lower-limb impairment. Results show the device and controller provide improvements in knee movement in all subjects. Subjective feedback from the subjects indicates a high level of comfort with the controller.

Design and preliminary assessment of Vanderbilt hand exoskeleton.

This paper presents the design of a hand exoskeleton intended to enable or facilitate bimanual activities of daily living (ADLs) for individuals with chronic upper extremity hemiparesis resulting from stroke. The paper describes design of the battery-powered, self-contained exoskeleton and presents the results of initial testing with a single subject with hemiparesis from stroke. Specifically, an experiment was conducted requiring the subject to repeatedly remove the lid from a water bottle both with and without the hand exoskeleton. The relative times required to remove the lid from the bottles was considerably lower when using the exoskeleton. Specifically, the average amount of time required to grasp the bottle with the paretic hand without the exoskeleton was 25.9 s, with a standard deviation of 33.5 s, while the corresponding average amount of time required to grasp the bottle with the exoskeleton was 5.1 s, with a standard deviation of 1.9 s. Thus, the task time involving the paretic hand was reduced by a factor of five, while the standard deviation was reduced by a factor of 16.