Diagnosis and treatment recommendations for glucose transporter 1 deficiency syndrome.

Background: Glucose transporter 1 deficiency syndrome (Glut1DS) was initially reported by De Vivo and colleagues in 1991. This disease arises from mutations in the SLC2A1 and presents with a broad clinical spectrum. It is a treatable neuro-metabolic condition, where prompt diagnosis and initiation of ketogenic dietary therapy can markedly enhance the prognosis.

Intermediate observers based robust fault estimation for multi-agent systems under communication constraints via switching scheme.

This paper addresses the problem of robust fault estimation for multi-agent systems (MASs) under communication constraints. Taking into account the possible data packet loss (DPL) in the information interaction of each subsystem, MASs are remodelled as switching systems by introducing a variable sampling strategy. Then, using the local information among agents, a novel intermediate observer design method based on switching scheme is proposed to estimate faults of MASs.

Biomechanical Phenotyping of Chronic Low Back Pain: Protocol for BACPAC.

Objective: Biomechanics represents the common final output through which all biopsychosocial constructs of back pain must pass, making it a rich target for phenotyping. To exploit this feature, several sites within the NIH Back Pain Consortium (BACPAC) have developed biomechanics measurement and phenotyping tools. The overall aims of this article were to: 1) provide a narrative review of biomechanics as a phenotyping tool; 2) describe the diverse array of tools and outcome measures that exist within BACPAC; and 3) highlight how leveraging these technologies with the other data collected within BACPAC could elucidate the relationship between biomechanics and other metrics used to characterize low back pain (LBP).

Objective features of sedentary time and light activity differentiate people with low back pain from healthy controls: a pilot study.

Background Context: Physical inactivity has been described as both a cause and a consequence of low back pain (LBP) largely based on self-reported measures of daily activity. A better understanding of the connections between routine physical activity and LBP may improve LBP interventions.

Purpose: In this study, we aim to objectively characterize the free-living physical activity of people with low back pain in comparison to healthy controls using accelerometers, and we aim to derive a set of LBP-specific physical activity minutes thresholds that may be used as targets for future physical activity interventions.

Examining the Association Between Self-Reported Estimates of Function and Objective Measures of Gait and Physical Capacity in Lumbar Stenosis.

Objective: To evaluate the association of self-reported physical function with subjective and objective measures as well as temporospatial gait features in lumbar spinal stenosis (LSS).

Design: Cross-sectional pilot study.

Setting: Outpatient multispecialty clinic.

Variability among methods and timing of pain assessment tools for tracking improvement of lumbar stenosis patients after surgery.

Background Context: Many different pain and functional outcomes are used to determine progress after surgical intervention for lumbar spinal stenosis (LSS); it is unknown how these different outcomes correlate, or whether timing of pain measurement is important.

Purpose: The goal was to determine whether method and timing of pain measurement is important in the context of LSS surgical outcomes.

Study Design/setting: Cohort study.

Gait features for discriminating between mobility-limiting musculoskeletal disorders: Lumbar spinal stenosis and knee osteoarthritis.

Background: Functional ambulation limitations are features of lumbar spinal stenosis (LSS) and knee osteoarthritis (OA). With numerous validated walking assessment protocols and a vast number of spatiotemporal gait parameters available from sensor-based assessment, there is a critical need for selection of appropriate test protocols and variables for research and clinical applications.

Research Question: In patients with knee OA and LSS, what are the best sensor-derived gait parameters and the most suitable clinical walking test to discriminate between these patient populations and controls?

Methods: We collected foot-mounted inertial measurement unit (IMU) data during three walking tests (fast-paced walk test-FPWT, 6-min walk test- 6MWT, self-paced walk test - SPWT) for subjects with LSS, knee OA and matched controls (N = 10 for each group).

Fall Risk Prediction in Multiple Sclerosis Using Postural Sway Measures: A Machine Learning Approach.

Numerous postural sway metrics have been shown to be sensitive to balance impairment and fall risk in individuals with MS. Yet, there are no guidelines concerning the most appropriate postural sway metrics to monitor impairment. This investigation implemented a machine learning approach to assess the accuracy and feature importance of various postural sway metrics to differentiate individuals with MS from healthy controls as a function of physiological fall risk.

Motor Learning in People with Multiple Sclerosis: A Systematic Review and Meta-analysis.

Objective: To systematically review and quantitatively synthesize the existing evidence of motor learning in persons with multiple sclerosis (PwMS).

Data Sources: PubMed, Cumulative Index to Nursing and Allied Health Literature, and Web of Science were searched using the following terms: multiple sclerosis, task learning, motor learning, skill learning, performance learning.

Study Selection: Studies had to include PwMS with a main outcome being motor learning, be published in peer-reviewed journals, and be written in English.

Age-Related Differences in Head Impact during Experimentally Induced Sideways Falls.

Purpose: To examine head impact incidence and head acceleration during experimentally induced falls as a function of age.

Methods: 15 young adults (21.2±2.

The Validity of a Mixed Reality-Based Automated Functional Mobility Assessment.

Functional mobility assessments (i.e., Timed Up and Go) are commonly used clinical tools for mobility and fall risk screening in older adults.

Preliminary evaluation of a self-guided fall risk assessment tool for older adults.

Falls are a major health problem for older adults with significant physical and psychological consequences. The first step of successful fall prevention is to identify those at risk of falling. Recent technology advancement offers the possibility of objective, lowcost and self-guided fall risk assessment.

Preliminary investigation of teaching older adults the tuck-and-roll strategy: Can older adults learn to fall with reduced impact severity.

Falls are common and potentially disastrous for older adults. A novel approach that could augment current fall prevention procedures is to teach older adults movement strategies to reduce the risk of injury. The purpose of the study was to determine whether older adults can learn a movement strategy ("tuck-and-roll") that reduces fall impact severity.

Correction to: Novel and de novo mutations in pediatric refractory epilepsy.

Following publication of the original article [1], the authors reported that one of the authors' names is spelled incorrectly.

Novel technology for mobility and balance tracking in patients with multiple sclerosis: a systematic review.

Mobility and balance impairments in patients with multiple sclerosis (MS) are major factors for decreased quality of life. Novel sensing technologies have great potential to efficiently capture subtle changes in mobility and balance performance, and thus improve current practices by providing an easy-to-implement, objective, and continuous functional tracking in MS population. Areas covered: This review details the collective findings of novel technology utilization in mobility and balance tracking in patients with MS.

Novel and de novo mutations in pediatric refractory epilepsy.

Pediatric refractory epilepsy is a broad phenotypic spectrum with great genetic heterogeneity. Next-generation sequencing (NGS) combined with Sanger sequencing could help to understand the genetic diversity and underlying disease mechanisms in pediatric epilepsy. Here, we report sequencing results from a cohort of 172 refractory epilepsy patients aged 0-14 years.

Assessment of Postural Sway in Individuals with Multiple Sclerosis Using a Novel Wearable Inertial Sensor.

Balance impairment is common in individuals with multiple sclerosis (MS). However, objective assessment of balance usually requires clinical expertise and/or the use of expensive and obtrusive measuring equipment. These barriers to the objective assessment of balance may be overcome with the development of a lightweight inertial sensor system.

Novel sensing technology in fall risk assessment in older adults: a systematic review.

Background: Falls are a major health problem for older adults with significant physical and psychological consequences. A first step of successful fall prevention is to identify those at risk of falling. Recent advancement in sensing technology offers the possibility of objective, low-cost and easy-to-implement fall risk assessment.

Cognition is associated with gait variability in individuals with multiple sclerosis.

Fluctuations in gait, or gait variability, are closely related to cognitive function in various clinical populations. However, there are limited data on this relationship in multiple sclerosis (MS) patients. This investigation determined whether cognitive function as measured by processing speed is associated with gait variability in individuals with MS.

Probing attention prioritization during dual-task step initiation: a novel method.

The present study investigated the attention allocation during reactive stepping using a continuous finger-tapping task. Ten healthy young subjects were recruited to participate in this study. Subjects were required to perform a rapid voluntary step with either left or right leg after hearing an auditory tone while tapping their right index finger on a handhold numeric keypad.

Encephalitis Lethargica With Isolated Substantia Nigra Lesions Followed by a Second Encephalitis in a Child With Humoral Immunodeficiency.

Background: Encephalitis lethargica is an encephalitic illness with multiple nervous system symptoms. Lesions only involving substantia nigra on magnetic resonance imaging are uncommon, especially in children. A second encephalitis illness after encephalitis lethargica has never been reported before.

Maternal immune activation increases seizure susceptibility in juvenile rat offspring.

Epidemiological data suggest a relationship between maternal infection and a high incidence of childhood epilepsy in offspring. However, there is little experimental evidence that links maternal infection with later seizure susceptibility in juvenile offspring. Here, we asked whether maternal immune challenge during pregnancy can alter seizure susceptibility and seizure-associated brain damage in adolescence.

The posterior shift anticipatory postural adjustment in choice reaction step initiation.

The ability to step quickly in response to a perturbation has been shown to be critical for prevention of falls. The cognitive processing, weight shifting, and locomotion must be well timed to execute a successful step. The purpose of this study was to compare the response preparation and response execution processes between a simple (SRST) and a choice reaction stepping task (CRST).