Effect of active recovery using individual maximum exercise capacity: a pilot study.

[Purpose] The intensity of active recovery (AR) for performance recovery is often determined using breath gas analyzers and other special equipment. However, such procedures are difficult to perform in the field or where facilities are inadequate. Although several AR methods using simple patient-derived information have been proposed, only a few have specifically addressed their immediate effects. The present study aimed to quantify the immediate effects of AR, which was determined using the maximum exercise capacity calculated using a physical fitness test without specialized devices. [Participants and Methods] Thirty-two healthy male participants were equally divided into AR and control groups. Each group performed squat jumps, followed by a recovery intervention of jogging at a set intensity in the AR group or rest in a seated position in the control group. Standing long jumps performed before and after the squat jumps as well as after the intervention were analyzed. [Results] The recovery rate for standing long jumps was significantly higher in the AR group than in the control group. [Conclusion] The results of this pilot study indicate that the implementation of AR based on maximum exercise capacity may enhance performance recovery and requires further validation in larger studies.

The effects of visual cues from optical stimulation devices on gait disturbance in patients with Parkinson's disease.

[Purpose] The purpose of this study was to identify the optimal visual cues for gait disturbance in patients with Parkinson's disease based on the luminous duration and the individual patient preferences for a wearable visual cue device. [Participants and Methods] Twenty-four patients with Parkinson's disease walked while wearing only a visual cue device in the control condition. They then walked while the device was set to two stimulus conditions: the luminous duration at 10% and 50% of the individual gait cycle. After walking under the two stimulus conditions, the patients were asked for their preferred visual cue condition. The walking results were compared between the two stimulus conditions and the control condition. Gait parameters were compared among the three conditions. The comparisons with preference, non-preference, and control conditions were also made for the same gait parameter. [Results] When compared to the control condition, walking with visual cues in the stimulus conditions reduced stride duration and increased cadence. The preference and non-preference conditions had shorter stride durations than the control condition. Furthermore, the preference condition also resulted in a faster gait speed than the non-preference condition. [Conclusion] This study suggests that a wearable visual cue device with the patient's preferred luminous duration may help manage gait disturbance in patients with Parkinson's disease.

Impact of body fat, body water content, and skeletal muscle mass index on peak salivary lactate levels after squat jump exercise in healthy non-athlete adult males.

BACKGROUND: In the rehabilitation and sports science fields, comprehensive assessment of the response to exercise is important for accurately prescribing exercise programs. Lactate is an important energy substrate that is frequently measured in clinical practice because it provides information on aerobic capacity. Salivary lactate, which can be measured non-invasively, has recently been focused on as an alternative to blood lactate. This study aimed to determine the combined effects of body fat, body water content, and skeletal muscle mass index on peak salivary lactate levels. METHODS: Thirty-seven non-athletic males performed a squat jump exercise. Their salivary lactate levels were measured before, immediately after, and every 5 min after the exercise using a simplified device. We also assessed body composition. A linear multiple regression analysis was performed with peak salivary lactate levels as the dependent variable and body fat ratio, body water content, and the skeletal muscle mass index as independent variables. RESULTS: The participants' body fat ratio (positive effect; p = 0.001) and body water content (negative effect; p = 0.035) significantly affected peak salivary lactate levels. Skeletal muscle mass index tended to positively influence salivary lactate levels (p = 0.099), albeit not significantly. The adjusted R-squared value of the model was 0.312 (p = 0.001). CONCLUSIONS: The combined effect of body fat, body water content, and skeletal muscle mass index on peak salivary lactate levels was 31.2%. Better nutritional guidance may be effective in promoting weight loss and increasing body water content to improve aerobic capacity in the rehabilitation setting.

Comparison of the effects of external focus of attention with metaphor and internal focus of attention on temporal changes in seating pressure during sitting motion in community-dwelling elderly people.

[Purpose] This study aimed to clarify the optimal method of attention focus in which temporal changes in the seating pressure can induce effective sitting motion in order to prevent osteoporotic vertebral fractures in the elderly. [Participants and Methods] This study included 101 community-dwelling elderly people. The participants were seated in a chair with a force plate under two conditions: external focus of attention with metaphor and internal focus of attention. We evaluated and analyzed the seating pressure by using the force plate and the sitting motion with a three-dimensional motion capture system. The unit time sitting pressure value and the trunk forward tilt angle were calculated and compared between the two conditions. [Results] The unit time sitting pressure value was significantly smaller in the external condition than the internal condition. The trunk forward tilt angle was significantly greater in the internal condition than the external condition. [Conclusion] This study demonstrated that external focus of attention with metaphor can induce a sitting motion with a slower temporal change in sitting pressure than the internal focus of attention. We concluded that external focus of attention with metaphor may be an effective instruction to prevent osteoporotic vertebral fractures in the elderly.

Neuropsychological and neurophysiological features of WAGR syndrome: Detailed comprehensive evaluation of a patient with severe intellectual disability and autism spectrum disorder.

BACKGROUND: Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome is a contiguous gene deletion syndrome caused by a de novo deletion including the 11p13 region. Although autism spectrum disorder (ASD) is frequently observed in patients with WAGR syndrome, few reports have comprehensively described its characteristics. We herein present the detailed neuropsychological and neurophysiological findings of a patient with WAGR syndrome complicated with severe psychomotor developmental delay and ASD. CASE PRESENTATION: The patient is presently a 6-year-old boy. Microarray analysis revealed a 7.1 Mb loss at 11p14.3-p13 and a 9.3 Mb loss at 11p13-p12, which encompassed the PAX6, WT1, and PRRG4 genes. His behavioral features were characteristic even among the ASD population: severe hypoesthesia to touch, pain, and temperature in addition to remarkable sensory seeking posing a high risk of serious accident. Sensory Profile analysis objectively identified a strong preference for sensory stimulation. Furthermore, his somatosensory evoked potential (SSEP) showed a mild delay in central conduction time, suggesting partial brain stem dysfunction-induced hypoalgesia. DISCUSSION: This first attempt to characterize sensory dysfunction using Sensory Profile and SSEP in WAGR syndrome may contribute to understanding its neuropsychological features and improve the quality of rehabilitation and socioeducational support in affected children.

Relationship between skeletal muscle mass and blood lactate level reduction after short squat jumps in healthy adult non-athletes.

[Purpose] Blood lactate reduction helps in understanding muscle recovery. Although light exercise and stretching are known interventions to reduce its concentration, the impact of skeletal muscle mass on blood lactate clearance is unknown. This study aimed to determine the relationships between blood lactate reduction and skeletal muscle mass following exercise. [Participants and Methods] Healthy non-athletic males performed squat jumps for 1 minute and 30 seconds. Blood lactate level was measured before and immediately after the exercise and then every 2 minutes for a period of 20 minutes. The decrease in blood lactate level was estimated as the difference between the minimum and maximum values. The rate of decrease was calculated by dividing the decrease in blood lactate level by time. Blood lactate level was measured using Lactate ProTM 2, while skeletal muscle mass was assessed using InBody 430. [Results] There was a significant positive correlation between skeletal muscle mass, the amount of blood lactate level reduction, and the rate of reduction of blood lactate level. [Conclusion] Our results demonstrated that greater skeletal muscle mass enabled a greater decrease in blood lactate level, suggesting that skeletal muscle mass may be involved in the reduction of blood lactate level after a squat jump. Interventions to increase skeletal muscle mass may promote more efficient lactate metabolism and muscle fatigue recovery.

Changes in motor function in Duchenne muscular dystrophy patients after travel restrictions due to COVID-19.

INTRODUCTION/AIM: This retrospective study aimed to quantify the changes in motor function in patients with Duchenne muscular dystrophy (DMD) due to the government-imposed travel restrictions associated with the coronavirus disease 2019 (COVID-19) pandemic. METHODS: Twelve DMD patients were enrolled in this investigation (mean ± SD age: 9.8 ± 3.6 y). Their physical characteristics and motor function were evaluated approximately 3 mo before, immediately before, and approximately 3 mo after the travel restrictions were decreed. Statistical comparisons were performed of the changes in motor function before and after the travel restrictions. RESULTS: The change in range of motion (ROM) of ankle dorsiflexion was significantly decreased after the travel restrictions. Changes in body mass index and other motor function parameters were not significant. DISCUSSION: An apparent decrease in the amount of physical activity due to travel restrictions in response to COVID-19 negatively affected ankle dorsiflexion ROM but not other motor functions. A more sedentary lifestyle and lack of regular physical therapy services most likely contributed to this reduction. The use of remote rehabilitation tools with the involvement of physiotherapists may help mitigate such changes and prevent more severe physical decline.

Convergent validity of a simplified device and relationship between blood lactate and salivary lactate after a vertical squat jump in healthy non-athletes.

[Purpose] The aims of this study were 1) to examine the convergent validity between Lactate pro 2 and a standard JCA-BM 8000 automatic analyzer using salivary lactate and 2) to investigate the relationship between blood and salivary lactate levels after a vertical squat jump. [Participants and Methods] Healthy non-athletes participated in this observational study. The participants performed a vertical squat jump for 1 min 30 s. Blood and salivary lactate levels were measured before and after exercise using Lactate Pro 2. [Results] The intraclass correlation coefficient between Lactate Pro 2 and the JCA-BM 8000 automatic analyzer was 0.773, which can be considered as substantial convergent validity. However, in some samples, the salivary lactate level was out of the measurable range, and numerical values could not be obtained. The cross-correlation function between the blood and salivary lactate levels was 0.535 at lag 0 and 0.750 at lag 1, which indicated a 5-min lag between the salivary and blood lactate values. [Conclusion] Salivary lactate levels can be easily measured using Lactate Pro 2, although its sensitivity needs to be resolved. Further research is required for salivary lactate level, which can be collected non-invasively, to be used as an alternative parameter to blood lactate level.

Marked motor function improvement in a 32-year-old woman with childhood-onset hypophosphatasia by asfotase alfa therapy: Evaluation based on standardized testing batteries used in Duchenne muscular dystrophy clinical trials.

Hypophosphatasia (HPP) is a rare disorder resulting from biallelic loss-of-function variants or monoallelic dominant negative variants in the ALPL gene. We herein describe the clinical outcome of a 32-year-old woman with childhood-onset HPP caused by compound heterozygous variants in ALPL. Her chief complaints were severe musculoskeletal pain, muscle weakness, and impaired daily activities necessitating assistance in housework and child-rearing in addition to a history of early tooth loss and mildly short stature. Asfotase alfa therapy produced a remarkable increase in muscle strength and daily activities and markedly reduced musculoskeletal pain. Drug efficacy was clearly demonstrated through multiple test batteries (muscle strength test using microFET®2, six-minute walking test, Stair Climb Test, rising-from-floor-time test, and number-of-steps test using Actigraph®) currently adopted as standardized evaluations in Duchenne muscular dystrophy clinical trials since no test batteries for HPP have been established to date. These tests may also be promising for the assessment of HPP.

Importance of long-term motor function evaluation after prednisolone treatment for Duchenne muscular dystrophy.

[Purpose] Motor function evaluation by physical therapists is considered a valuable tool to assess the progression of muscular dystrophies. Few reports have described long-term motor function assessment during the administration of corticosteroids such as prednisolone (PSL) in these patients. This study examined the importance of long-term non-invasive motor function evaluation in a series of 3 cases. [Participants and Methods] Three boys with Duchenne muscular dystrophy who were administered an identical PSL dosage regimen were retrospectively evaluated, and motor function tests were compared in them before and after an increase in PSL dosage. Regular feedback was obtained from the patients' mothers regarding their impressions of their child's motor function after the introduction of PSL. [Results] Motor function was conserved or significantly improved after an increase in dosage in all cases. Interestingly, subjective assessment by mothers revealed a perceived improvement only in case 1 without any changes reported in cases 2 or 3. [Conclusion] PSL was demonstrably effective for 2.5-5 years after initiating PSL treatment, although parental impressions varied. Thus, long-term non-invasive evaluation by physical therapists may provide important objective data regarding medication efficacy and disease progression. Future studies should include long-term testing results as an essential component of the discontinuation criteria for PSL.

The effect of wearing night splints for one year on the standing motor function of patients with Duchenne muscular dystrophy.

[Purpose] To investigate the effect of night splints on the standing motor function and ankle dorsiflexion angles of patients with Duchenne muscular dystrophy (DMD). [Subjects and Methods] Nine boys (age <11 years) with DMD were divided into the sufficiently-wearing group and the insufficiently-wearing group, according to how often they wore their splint for one year. We evaluated the changes between the pre-implementation and the one-year-after assessments of both the sufficiently-wearing group and the insufficiently-wearing group for the ankle dorsiflexion angle, North Star Ambulatory Assessment, 10-m running time, and time to stand from the floor. [Results] Only the left dorsiflexion angle of the ankle showed significantly difference for the sufficiently-wearing group. For other indicators, there were tendency toward improvement and maintenance in the sufficiently-wearing group. [Conclusion] The standing motor function improved significantly in some patients in the sufficiently-wearing group, suggesting that wearing night splints may promote the improvement and/or maintain of standing motor function in patients with DMD.

Enhancement of motor skill learning by a combination of ideal model-observation and self-observation.

[Purpose] In sports physical therapy, video of a patient's movement or of a skilled model's movement has been used as observational learning methods for injury prevention and movement modification. Positive effects of model video observation have been reported. This study aimed to clarify the effect on motor skill learning using a combination of model-observation and self-observation, which is thought to act as an enhanced method for active error detection by comparing model-observation and self-observation alone for acquisition of correct sports movement. [Subjects and Methods] Forty-five healthy females were randomly allocated into three groups comprising model- and self-observation, model-observation, and self-observation. The motor task performed was a half golf swing using an elastic club. Shoulder grip angle between both shoulder lines and the acromia grip strength were measured as an index of body rotation using a three-dimensional motion analyzer. Change in the shoulder grip angle in the three groups was analyzed at pre-, immediate delayed retention, and delayed retention tests. [Results] A significant difference in shoulder grip angle was observed among the three groups for the immediate delayed retention test. The combined model and self-observation group had a value closer to 90 degrees compared to the other two groups. [Conclusion] Observation combining model and self-observation exerted a positive effect on short-term motor skill learning.

Comparison of the phenotypes of patients harboring in-frame deletions starting at exon 45 in the Duchenne muscular dystrophy gene indicates potential for the development of exon skipping therapy.

Exon skipping therapy has recently received attention for its ability to convert the phenotype of lethal Duchenne muscular dystrophy (DMD) to a more benign form, Becker muscular dystrophy (BMD), by correcting the open reading frame. This therapy has mainly focused on a hot-spot (exons 45-55) mutation in the DMD gene. Exon skipping of an entire stretch of exons 45-55 is an approach applicable to 46.9% of DMD patients. However, the resulting phenotype is not yet fully understood. Here we examined the clinical profiles of 24 patients with BMD resulting from deletions starting at exon 45. The Δ45-55 group ranged in age from 2 to 87 years; no mortality was observed, and one patient was ambulatory at 79 years of age. The age at which patients became wheelchair-bound in the Δ45-48 group (18-88 years old) was approximately 50 years. Cardiomyopathy was well controlled by pharmaceuticals in both deletion groups. In contrast, the Δ45-47 and Δ45-49 groups exhibited more severe phenotypes than those with other mutations: the age at which patients in the Δ45-49 group became wheelchair-bound was around 30-40 years. Our study shows that clinical severity differs between each hot-spot deletion.

Usefulness of continuous actigraph monitoring in the assessment of the effect of corticosteroid treatment for Duchenne muscular dystrophy: a case report.

[Purpose] This study evaluated the effect of corticosteroid treatment on the daily activity of a patient with Duchenne muscular dystrophy using an actigraph and examined whether this method produces the same results as the conventional motor-function evaluation methods. [Subject and Methods] A patient with 5 year-old Duchenne muscular dystrophy was recruited. An actigraph was attached to his waist to measure the energy expenditure and the number of steps taken by him during a period of two weeks, 14 days before and 14 days after corticosteroid administration. The outcomes of these measurements were compared with the results of conventional motor-function evaluation methods-the 10-m run test, 6-minute walk test, and North Star Ambulatory Assessment-on his next visit. [Results] The actigraph data for energy expenditure and the number of steps taken correlated well with the results of the above-mentioned conventional motor-function tests, and the value of each data point improved after corticosteroid administration. [Conclusion] An actigraph was effectively used to non-invasively measure consecutive daily activity for four weeks. It was easily done and the results were consistent with conventional motor-function evaluation methods.

Deletion of exons 3-9 encompassing a mutational hot spot in the DMD gene presents an asymptomatic phenotype, indicating a target region for multiexon skipping therapy.

Few cases of dystrophinopathy show an asymptomatic phenotype with mutations in the 5' (exons 3-7) hot spot in the Duchenne muscular dystrophy (DMD) gene. Our patient showed increased serum creatine kinase levels at 12 years of age. A muscle biopsy at 15 years of age led to a diagnosis of Becker muscular dystrophy. The patient showed a slight decrease in cardiac function at the age of 21 years and was administered a ß-blocker, but there was no muscle involvement even at the age of 27 years. A deletion of exons 3-9 encompassing a mutational hot spot in the DMD gene was detected, and dystrophin protein expression was ∼15% that of control level. We propose that in-frame deletion of exons 3-9 may produce a functional protein, and that multiexon skipping therapy targeting these exons may be feasible for severe dystrophic patients with a mutation in the 5' hot spot of the DMD gene.

The effect of different imitation models on theaccuracy and speed of imitation of movement.

[Purpose] The purpose of this study was to compare the accuracy, speed and subjective ease of imitation of movement using three different imitation models. [Subjects] Thirty-four right-handed healthy males participated in this study. [Methods] The imitation task chosen for this study was an asymmetric combined motion of the upper and lower limbs. Three kinds of imitation models were displayed on a screen as follows: a) third person perspective mirror imitation (3PM), b) third person perspective anatomical imitation (3PA), and c) first person perspective ipsilateral imitation (1PI). Subjects were instructed to imitate the movement shown on a screen as quickly and as accurately as possible. They executed four sets of the movement with each set consisting of one trial of each of the three imitation models. [Results] 3PM was the most accurate, and 1PI was the fastest in speed and subjective ease of imitation, compared with the other two imitation models. [Conclusion] These results suggest that 1PI and 3PM, which do not require mental rotation of the movement task as required by 3PA, should be considered more suitable imitation models for teaching healthy subjects how to move.

Periodic sound-based 6-minute walk test forpatients with Duchenne muscular dystrophy:a preliminary study.

[Purpose] The purpose of this study was to verify if a periodic sound-based 6-minute walk test with the best periodic sound could be used to evaluate physical endurance more precisely than the conventional 6-minute walk test. [Subjects] The subjects were healthy subjects and 6 ambulant patients with Duchenne muscular dystrophy. [Methods] The subjects initially walked for 1 minute to a long-interval metronome sound, and the walking distance was measured. The sound interval was then gradually shortened, and the subjects walked for 1 minute for each of the intervals. The best periodic sound was considered to be the periodic sound used when the subject walked the longest distance in 1 minute, and the process of determining it was referred to as the period shortening walk test. This study administered the 6-minute walk test with the best periodic sound to twenty healthy subjects and 6 ambulant patients with Duchenne muscular dystrophy and compared the walking distance. [Results] The periodic sound-based 6-minute walk test distances in both the healthy subjects and the patients were significantly longer than the conventional 6-minute walk test distances. [Conclusion] The periodic sound-based 6-minute walk test provided a better indication of ambulatory potential in an evaluation of physical endurance than the conventional 6-minute walk test.