Discovery of a de novo ITPR1 missense mutation in a patient with early-onset cerebellar ataxia: A rare case report of spinocerebellar ataxia 29.

BACKGROUND: Spinocerebellar ataxia 29 (SCA29) is a rare genetic disorder characterized by early-onset ataxia, gross motor delay, and infantile hypotonia, and is primarily associated with variants in the ITPR1 gene. Cases of SCA29 in Asia are rarely reported, limiting our understanding of this disease. METHODS: A female Korean infant, demonstrating clinical features of SCA29, underwent evaluation and rehabilitation at our outpatient clinic from the age of 3 months to the current age of 4 years. Trio-based genome sequencing tests were performed on the patient and her biological parents. RESULTS: The infant initially presented with macrocephaly, hypotonia, and nystagmus, with nonspecific findings on initial neuroimaging. Subsequent follow-up revealed gross motor delay, early onset ataxia, strabismus, and cognitive impairment. Further neuroimaging revealed atrophy of the cerebellum and vermis, and genetic analysis revealed a de novo pathogenic heterozygous c.800C>T, p.Thr267Met missense mutation in the ITPR1 gene (NM_001378452.1). CONCLUSION: This is the first reported case of SCA29 in a Korean patient, expanding the genetic and phenotypic spectrum of ITPR1-related ataxias. Our case highlights the importance of recognizing early-onset ataxic symptoms, central hypotonia, and gross motor delays with poor ocular fixation, cognitive deficits, and isolated cerebellar atrophy as crucial clinical indicators of SCA29.

Training intensity of robot-assisted gait training in children with cerebral palsy.

AIM: We compared three different intensities of robot-assisted gait training (RAGT) for achieving favourable outcomes in children with cerebral palsy (CP). METHOD: This study was conducted using a randomized controlled, single-blind design. Thirty children (19 males and 11 females; mean age 6 years 1 month, SD 2 years) with CP classified in Gross Motor Function Classification System levels II and III were assigned to three different RAGT intensity groups: high-intensity (fastest walking speed and lowest body weight support [BWS]), low-intensity (slowest speed and highest BWS), and comfortable intensity (intermediate speed and intermediate BWS). The RAGT intervention was performed three times a week for 6 weeks. Outcome measures included the 88-item Gross Motor Function Measure, stability index, spatiotemporal parameters of gait analysis, paediatric functional independence measure, and the Canadian Occupational Performance Measure. RESULTS: The 88-item Gross Motor Function Measure was significantly improved after training in the high-intensity (D Δ8.3 ± 15.6; E Δ3.8 ± 4.1) and comfortable intensity (D Δ2.9 ± 3.1; E Δ1.2 ± 2.0) groups, whereas gait speed was improved in the comfortable intensity group, without statistically significant group differences. Only the low-intensity group showed improvement on the stability index (Δ -0.6 ± 0.9, p = 0.05). Everyday functional performance significantly improved in all three groups, with the comfortable intensity group showing the greatest improvement. INTERPRETATION: Different training intensities produced improvement in different areas; individualized RAGT intensity adjustment is therefore needed based on the rehabilitation goal.

Cerebral Infarction and Recovery in a 12-Year-Old Child With Intracranial Fibromuscular Dysplasia.

Fibromuscular dysplasia (FMD) is a congenital vascular anomaly resulting in arterial stenosis and weakening of typically medium-sized arteries. It is a noninflammatory, nonatherosclerotic arterial disease that affects most commonly the renal and internal carotid arteries, but intracranial FMD in the pediatric population is very rare. We report a young age-onset ischemic stroke patient with FMD affecting the middle cerebral artery (MCA). A 14-year-old boy was admitted with left-side weakness during physical education at school. The brain magnetic resonance (MR) imaging revealed an acute ischemic stroke in the right basal ganglia and internal capsule, while the MR angiogram showed segmental intraluminal stenosis in the left proximal MCA. The transfemoral angiography revealed the pathognomonic sign of a "string of beads" at the proximal MCA area. The clinical course was stable, and the boy gradually recovered from the motor weakness of his arm and leg. FMD should be considered as a potential cause of pediatric stroke.

Medical service utilization by children with physical or brain disabilities in South Korea.

BACKGROUND: Children with physical or brain disabilities experience several functional impairments and declining health complications that must be considered for adequate medical support. This study investigated the current medical service utilization of children expressing physical or brain disabilities in South Korea by analyzing medical visits, expenses, and comorbidities. METHODS: We used a database linked to the National Rehabilitation Center of South Korea to extract information on medical services utilized by children with physical or brain disabilities, the number of children with a disability, medical visits for each child, medical expenses per visit, total medical treatment cost, copayments by age group, condition severity, and disability type. RESULTS: Brain disorder comorbidities significantly differed between those with mild and severe disabilities. Visits per child, total medical treatment cost, and copayments were higher in children with severe physical disabilities; however, medical expenses per visit were lower than those with mild disabilities. These parameters were higher in children with severe brain disabilities than in mild cases. Total medical expenses incurred by newborns to three-year-old children with physical disorders were highest due to increased visits per child. However, medical expenses per visit were highest for children aged 13-18. CONCLUSION: Medical service utilization varied by age, condition severity, and disability type. Severe cases and older children with potentially fatal comorbidities required additional economic support. Therefore, a healthcare delivery system for children with disabilities should be established to set affordable medical costs and provide comprehensive medical services based on disability type and severity.

Relation of Flatfoot Severity with Flexibility and Isometric Strength of the Foot and Trunk Extensors in Children.

BACKGROUND: Flatfoot is a deformity in which the foot is flattened due to a decrease in or loss of the medial longitudinal arch. STATEMENT OF THE PROBLEM: Few studies have investigated the relationship between the severity of flat feet, trunk strength, and joint flexibility. PURPOSE: The aim of this study is to investigate the relationship between the severity of flatfoot and joint flexibility and foot and trunk strength in children with flexible flatfoot. METHODS: This study included 16 children (boys, 12; girls, 4; age, 4~8 years) with flexible flatfeet. We examined the resting calcaneal stance position angle (RCSPA) and foot posture index (FPI) scores for clinical severity and radiographic parameters, such as calcaneal pitch angle, talometatarsal angle (TMA), and talocalcaneal angle (TCA). Muscle thicknesses of the tibialis posterior (TP), peroneus longus (PL), and L1 multifidus were measured by sonography. Isometric contraction of ankle inversion, eversion in a seating position, and lumbar extension at a prone position were induced using a handheld dynamometer to measure the maximum muscle strength for each muscle. Beighton's scoring system was used to assess joint flexibility by evaluating the hyperextension of the joint for each category when performing stretching motion. Spearman's rank correlation coefficient for nonparametric data was used. RESULTS: The FPI showed a moderately negative correlation with the muscle thickness of TP (r = -0.558, p = 0.009) and L1 multifidus (r = -0.527, p = 0.012), and the strength of the ankle inverter (r = -0.580 p = 0.005) and lumbar extensor (r = -0.436 p = 0.043). RCSPA showed a moderately positive correlation with TCA (r = 0.510, p = 0.006). Beighton's score showed no significant correlation with all parameters. CONCLUSION: In children with flatfoot, FPI reflected the clinical severity; thus, the more severe the symptoms, the weaker the ankle inverter and lumbar extensor.

Is Longstanding Congenital Muscular Torticollis Provoking Pelvic Malalignment Syndrome?

It has been reported that congenital muscular torticollis (CMT) may result in secondary scoliosis over long-term follow-ups. However, there are few reports on whether CMT causes pelvic malalignment syndrome (PMS). This study aimed to investigate the relationship between CMT and PMS and to determine the factors associated with the development of PMS in children with longstanding CMT. Medical records of 130 children with CMT who had long-term follow-up were reviewed retrospectively. The chi-squared test and logistic regression analysis were used to determine which initial clinical parameters contributed to the development of PMS. Among 130 children with CMT, 51 (39.2%) developed PMS with or without compensatory scoliosis during long-term follow-up, indicating a high prevalence of PMS in children with a CMT history. Initial clinical symptoms such as a limited range of motion of the neck or the presence of a neck mass could not predict the development of PMS. Even if the clinical symptoms are mild, long-term follow-up of children with CMT is essential to screen for PMS.

The Effect of Robot-Assisted Gait Training on Locomotor Function and Functional Capability for Daily Activities in Children with Cerebral Palsy: A Single-Blinded, Randomized Cross-Over Trial.

PURPOSE: The effectiveness of robot-assisted gait training (RAGT) in children with cerebral palsy (CP), especially in terms of improving the performance of daily activities, remains unclear. Therefore, we aimed to investigate the effectiveness of RAGT in children with CP. METHODS: In this single-center, single-blinded, randomized cross-over trial, we enrolled 20 children with CP with Gross Motor Function Classification System (GMFCS) levels II-IV (13 males; age range, 6.75 ± 2.15 years). The participants were randomized into the RAGT/standard care (SC) (n = 10) and SC/RAGT/SC sequence groups (n = 10). Using a Walkbot-K system, the RAGT program comprised 3 × 30-min sessions/week for 6 weeks with a continued SC program. The SC program comprised 2-4 conventional physiotherapy sessions/week for 6 weeks. The Gross Motor Function Measure-88 (GMFM-88), the pediatric functional independence measure (WeeFIM), and the Canadian occupational performance measure (COPM) scores were assessed pre- and post-RAGT or SC periods and treatment, period, follow-up, and carry-over effects were analyzed. Energy expenditure and body composition were measured pre- and post-RAGT. RESULTS: Significant treatment effects were observed in dimensions D and E of the GMFM (D: p = 0.018; E: p = 0.021) scores, WeeFIM mobility subtotal (p = 0.007), and COPM performance (p < 0.001) and satisfaction (p = 0.001) measure scores. The period, follow-up, and carry-over effects were not statistically significant. The gross energy cost significantly decreased (p = 0.041) and the skeletal muscle mass increased (p = 0.014) at post-RAGT assessment. The factors associated with functional outcomes showed significant improvements in the GMFM D scores and were mainly observed in children with GMFCS levels II-III compared to those classified at level IV (p = 0.038). CONCLUSION: RAGT had training benefits for children with CP. Specifically, it improved locomotor function and functional capability for daily activities. These effects were better in ambulatory children with CP. However, as SC interventions continued during the RAGT period, these improvements may be also related to multiple treatment effects.

Changes in Muscle Stiffness in Infants with Congenital Muscular Torticollis.

Congenital muscular torticollis (CMT) results from unilateral shortening of the sternocleidomastoid (SCM) muscle, usually associated with a fibrotic mass. Although CMT may resolve with physical therapy, some cases persist, resulting in long-term musculoskeletal problems. It is therefore helpful to be able to monitor and predict the outcomes of physical therapy. Shear-wave velocity (SWV) determined by acoustic radiation force impulse (ARFI) elastography can provide a quantitative measure of muscle stiffness. We therefore measured SCM SWV in 22 infants with unilateral CMT before and after 3 months of physical therapy and evaluated the relationships between SWV and SCM thickness and various clinical features, including cervical range of motion (ROM). SWV was initially higher and the ROM was smaller in affected muscles before physical therapy. SWV decreased significantly (2.33 ± 0.47 to 1.56 ± 0.63 m/s, p < 0.001), indicating reduced stiffness, and muscle thickness also decreased after physical therapy (15.64 ± 5.24 to 11.36 ± 5.71 mm, p < 0.001), both in line with increased neck ROM of rotation (64.77 ± 18.87 to 87.27 ± 6.31°, p < 0.001) and lateral flexion (37.50 ± 11.31 to 53.64 ± 9.41°, p < 0.001). However, the improved ROM more closely reflected the changes in SWV than in muscle thickness. These results suggest that a change in SWV detected by ARFI elastography could help to predict improvements in clinical outcomes, such as stiffness-related loss of motion, in patients with CMT undergoing physical therapy.

The Characteristics of Cognitive Impairment and Their Effects on Functional Outcome After Inpatient Rehabilitation in Subacute Stroke Patients.

OBJECTIVE: To determine the frequency and characteristics of vascular cognitive impairment (VCI) in patients with subacute stroke who underwent inpatient rehabilitation and to analyze whether cognitive function can predict functional assessments after rehabilitation. METHODS: We retrospectively reviewed the medical records of patients who were admitted to our rehabilitation center after experiencing a stroke between October 2014 and September 2015. We analyzed the data from 104 patients who completed neuropsychological assessments within 3 months after onset of a stroke. RESULTS: Cognitive impairment was present in 86 out of 104 patients (82.6%). The most common impairment was in visuospatial function (65, 62.5%) followed by executive function (63, 60.5%), memory (62, 59.6%), and language function (34, 32.6%). Patients with impairment in the visuospatial and executive domains had poor scores of functional assessments at both admission and discharge (p<0.05). A multivariate analysis revealed that age (ß=-0.173) and the scores on the modified Rankin Scale (ß=-0.178), Korean version of the Modified Barthel Index (K-MBI) (ß=0.489) at admission, and Trail-Making Test A (TMT-A) (ß=0.228) were related to the final K-MBI score at discharge (adjusted R2=0.646). CONCLUSION: In our study, VCI was highly prevalent in patients with stroke. TMT-A scores were highly predictive of their final K-MBI score. Collectively, our results suggest that post-stroke executive dysfunction is a significant and independent predictor of functional outcome.

Strengthening of Quadriceps by Neuromuscular Magnetic Stimulation in Healthy Subjects.

BACKGROUND: Quadriceps muscle strengthening is one of the rehabilitation strategies for improving walking in some people with gait impairments, and neuromuscular electrical stimulation (NMES) has been used for that reason. The strengthening effect of neuromuscular magnetic stimulation (NMMS) on the quadriceps has been demonstrated in various conditions, but not specifically for gait training. The purpose of this study was to determine whether the effect of NMMS is clinically applicable. OBJECTIVE: To determine the effect of NMMS on quadriceps muscle strength, cross-sectional area (CSA) and thickness in healthy subjects. DESIGN: Single-blind, prospective, case-control study. SETTING: Tertiary academic hospital setting. PARTICIPANTS: A total of 40 healthy volunteers were randomly assigned to an NMMS (n = 20) or control group (n = 20). INTERVENTIONS: Fifteen minutes of quadriceps NMMS of at maximum tolerable intensity, 3 times per week for 5 weeks. MAIN OUTCOME MEASUREMENTS: At baseline and after the intervention, the CSA and thicknesses of the rectus femoris and vastus intermedius were measured by ultrasound. Isometric and isokinetic maximal and average peak torques of the dominant side knee extensors were also measured at pre- and postintervention. RESULTS: There were no between-group differences in strength, CSA, or muscle thickness at baseline. Isometric maximum and average peak torque of NMMS group were increased significantly after 5 weeks of intervention (P < .001). The isokinetic maximum and average peak torque of NMMS group were increased significantly at both angle velocities of 60°/sec and 120°/sec after 5 weeks of intervention (P < .001). However, neither group showed a significant difference in cross-sectional area or thickness after training. CONCLUSION: NMMS can be a useful strengthening method for large skeletal muscles such as the quadriceps. LEVEL OF EVIDENCE: II.