Mechanisms of functional improvement behind nusinersen treatment in adult spinal muscular atrophy.

Nusinersen treatment not only prevents neurological deterioration in presymptomatic or early symptomatic children with spinal muscular atrophy (SMA) but promotes functional improvement in the later plateau phase in adults with SMA, though the mechanisms for such functional improvement are not fully understood. We evaluated the motor behaviors and electrophysiological performance of 10 consecutive adult patients with SMA before and 2, 6, 10 months after nusinersen treatment. Adult SMA mice (SmnSMN2) were treated with nusinersen intracerebroventricularly for 2 months with analysis of the SMN transcripts and proteins expression, motor function, electrophysiology, and pathology of spinal cord and muscles.

Radiomics with Ultrasound Radiofrequency Data for Improving Evaluation of Duchenne Muscular Dystrophy.

Duchenne muscular dystrophy (DMD) is a rare and severe genetic neuromuscular disease, characterized by rapid progression and high mortality, highlighting the need for accurate ambulatory function assessment tools. Ultrasound imaging methods have been widely used for quantitative analysis. Radiomics, which converts medical images into data, combined with machine learning (ML), offers a promising solution.

Hybrid QUS Radiomics: A Multimodal-Integrated Quantitative Ultrasound Radiomics for Assessing Ambulatory Function in Duchenne Muscular Dystrophy.

Background: Duchenne muscular dystrophy (DMD) is a neuromuscular disorder that affects ambulatory function. Quantitative ultrasound (QUS) imaging, utilizing envelope statistics, has proven effective in diagnosing DMD. Radiomics enables the extraction of detailed features from QUS images.

Acoustic radiation force impulse shear wave elastography quantifies upper limb muscle in patients with Duchenne muscular dystrophy.

We investigated whether the upper limb muscle stiffness quantified by the acoustic radiation force impulse shear wave elastography (ARFI/SWE) is a potential biomarker for age-related muscle alteration and functional decline in patients with Duchenne muscular dystrophy (DMD). 37 patients with DMD and 30 typically developing controls (TDC) were grouped by age (3-8, 9-11, and 12-18 years). ARFI/SWE measured the biceps and deltoid muscle's shear wave velocities (SWVs).

Assessment for Tactile Perception in Children With Cerebral Palsy.

Importance: Impaired tactile perception frequently accompanies motor deficits in children with cerebral palsy (CP). Assessing tactile perception precisely for children with CP remains challenging because of a lack of assessments with robust psychometric evidence or standard procedures.

Objective: To develop a standardized assessment tool, the Tactile Perceptual Test (TPT), for measuring tactile perception in children with CP and to examine its psychometric properties.

Effects of Intensive Versus Distributed Constraint-Induced Movement Therapy for Children With Unilateral Cerebral Palsy: A Quasi-Randomized Trial.

Background: Previous studies have compared the effectiveness of constraint-induced movement therapy (CIMT) by different training doses. However, whether the dosing schedule, that is, intensive or distributed, influences the effectiveness of CIMT in children with unilateral cerebral palsy (CP) is unknown.

Objective: To investigate the effectiveness of intensive and distributed CIMT for children with unilateral CP.

Comparative effects of kinect-based versus therapist-based constraint-induced movement therapy on motor control and daily motor function in children with unilateral cerebral palsy: a randomized control trial.

Background: Constraint-induced movement therapy (CIMT) is a prominent neurorehabilitation approach for improving affected upper extremity motor function in children with unilateral cerebral palsy (UCP). However, the restraint of the less-affected upper extremity and intensive training protocol during CIMT may decrease children's motivation and increase the therapist's workload and family's burden. A kinect-based CIMT program, aiming to mitigate the concerns of CIMT, has been developed.

Psychometric Properties of the Little Developmental Coordination Disorder Questionnaire-Taiwan.

Importance: Early identification of young children at risk of developmental coordination disorder (DCD) can support early intervention and prevent secondary sequelae.

Objective: To examine the psychometric properties of a translated and cross-culturally adapted version of the Little Developmental Coordination Disorder Questionnaire-Taiwan (LDCDQ-TW).

Design: Prospective study.

Multidimensional Development and Adaptive Behavioral Functioning in Younger and Older Children With Rett Syndrome.

Objective: The purpose of this study was to examine clinical severity, multidimensional development, and adaptive behavioral functioning in younger and older children with Rett syndrome (RTT) in the pseudostationary stage (stage III).

Methods: Fourteen younger (≤10 years of age) and 15 older (11-18 years of age) children with confirmed stage III RTT (assigned to young-RTT and old-RTT groups, respectively) participated in this study. Clinical severity was determined using the Clinical Severity Score (CSS) scale for RTT.

Measurement properties of the box and block test in children with unilateral cerebral palsy.

This study aimed to examine the reliabilities (test-retest reliability and measurement error), construct validity, and the interpretability (minimal clinically important difference) of the Box and Block Test (BBT) to interpret test scores precisely for children with UCP. A total of 100 children with UCP were recruited and 50 children from the whole sample assessed the BBT twice within 2-week interval. The BBT, the Melbourne Assessment 2, the Bruininks-Oseretsky Test of Motor Proficiency, 2nd Edition, and the Pediatric Motor Activity Log Revised were measured before and immediately after a 36-h intensive neurorehabilitation intervention.

Bimanual motor performance in everyday life activities of children with hemiplegic cerebral palsy.

Background: Motor impairments in children with cerebral palsy significantly reduce their ability to learn and adapt bimanual actions into their life roles. The current evidence on bimanual coordination performance in children with hemiplegic cerebral palsy were mostly drawn from kinematic studies. Whether these kinematic findings on bimanual motor performance can be observed when performing daily life activities in a natural environment is not clear.

Commercial Exergaming in Home-Based Pediatric Constraint-Induced Therapy: A Randomized Trial.

Constraint-induced therapy (CIT) is highly effective yet not accessible to many families. Integrating commercial exergaming in home-based CIT may support the availability and attainability of the intervention. The study compared the effects of supplementary use of Nintendo Wii in home-based CIT with dose-equivalent conventional CIT.

Clinical Evaluation of Duchenne Muscular Dystrophy Severity Using Ultrasound Small-Window Entropy Imaging.

Information entropy of ultrasound imaging recently receives much attention in the diagnosis of Duchenne muscular dystrophy (DMD). DMD is the most common muscular disorder; patients lose their ambulation in the later stages of the disease. Ultrasound imaging enables routine examinations and the follow-up of patients with DMD.

Exploring Sensory Processing Dysfunction, Parenting Stress, and Problem Behaviors in Children With Autism Spectrum Disorder.

Objective: We examined problem behavior in preschool- and school-age children with autism spectrum disorder and assessed whether sensory processing dysfunction (SPD) and parenting stress were differentially associated with problem behaviors in these groups of children.

Method: Participants were 101 preschool- and 61 school-age children. An independent t test was used to examine group differences in problem behaviors.

Cross-section and feasibility study on the non-invasive evaluation of muscle hemodynamic responses in Duchenne muscular dystrophy by using a near-infrared diffuse optical technique.

Duchenne muscular dystrophy (DMD) is an X-linked debilitating muscular disease that may decrease nitric oxide (NO) production and lead to functional muscular ischemia. Currently, the 6-minute walk test (6-MWT) and the North Star Ambulatory Assessment (NSAA) are the primary outcome measures in clinical trials, but they are severely limited by the subjective consciousness and mood of patients, and can only be used in older and ambulatory boys. This study proposed using functional near-infrared spectroscopy (fNIRS) to evaluate the dynamic changes in muscle hemodynamic responses (gastrocnemius and forearm muscle) during a 6-MWT and a venous occlusion test (VOT), respectively.

Preliminary Efficacy of a Friendly Constraint-Induced Therapy (Friendly-CIT) Program on Motor and Psychosocial Outcomes in Children with Cerebral Palsy.

Aims: Constraint-induced therapy (CIT) is effective, but concerns have been repeatedly raised regarding the generalizability, feasibility, and potentially intrusive nature of restraining a child's unimpaired upper limb. We examined the feasibility and efficacy of friendly-CIT, which uses home-based model, a caregiver-determined schedule, and gentle restraint, in children with cerebral palsy.

Methods: In a one-group pre-post intervention trial, 15 children (median of age = 8 years, 4 months) participated in 8 weeks of friendly-CIT (36 hours).

Evaluation of muscular changes by ultrasound Nakagami imaging in Duchenne muscular dystrophy.

Duchenne muscular dystrophy (DMD) is the most common debilitating muscular disorder. Developing a noninvasive measure for monitoring the progression of this disease is critical. The present study tested the effectiveness of using ultrasound Nakagami imaging to evaluate the severity of the dystrophic process.