Dataset Information

Mobility assessment using wearable technology in patients with late-onset Pompe disease.

ABSTRACT: Late-onset Pompe disease (LOPD) is a rare genetic disorder due to the absence or deficiency of acid alpha-glucosidase enzyme resulting in slowly progressing reduction of muscle strength, causing difficulties with mobility and respiration. Wearable technologies offer novel options to evaluate mobility in a real-world setting. LOPD patients self-reporting LOPD, ?18 years, US residents, walking (with or without aid), and not on invasive ventilation were recruited for a 6- to 8-week wearable study via patient organizations. Eligible patients were shipped a wearable tracker (Fitbit One™) and completed self-assessment questionnaires. Mobility outcome measures were median step count and peak 1-min activity. In the analyses cohort (N?=?29), engagement in data sharing was high (94% of patients uploaded data for more than half the study days). Mean age was 43 years, 90% were females, and 93% were diagnosed in adulthood. Mean delay in diagnosis was 10 years; most had disease onset for ?10 years (55%); some required walking aid (17%) and breathing assistance (38%). Mean step count differed by age (20-39 years: 4071 vs. 40-69 years: 2394, p?p?p?p?r?=?-0.42, p?r?=?-0.49, p?

SUBMITTER: Hamed A

PROVIDER: S-EPMC6646308 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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Mobility assessment using wearable technology in patients with late-onset Pompe disease.

Hamed Alaa A Curran Christopher C Gwaltney Chad C DasMahapatra Pronabesh P

NPJ digital medicine 20190722

Late-onset Pompe disease (LOPD) is a rare genetic disorder due to the absence or deficiency of acid alpha-glucosidase enzyme resulting in slowly progressing reduction of muscle strength, causing difficulties with mobility and respiration. Wearable technologies offer novel options to evaluate mobility in a real-world setting. LOPD patients self-reporting LOPD, ≥18 years, US residents, walking (with or without aid), and not on invasive ventilation were recruited for a 6- to 8-week wearable study v ...[more]

PMID: 31341956

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Project description:Our objective was to investigate brain structure, cerebral vasculature, and cognitive function in a cohort of patients with late-onset Pompe disease, with particular reference to the differences from those with the classic infantile phenotype, where extensive white-matter abnormalities (WMA) and impaired cognition on long-term enzyme treatment are reported in a subset of patients. Brain imaging (T1, T2, T2 fluid-attenuated inversion recovery, susceptibility-weighted images, and magnetic resonance angiography-time of flight) was combined with extensive cognitive testing of general intelligence (Wechsler IQ Test, Montreal Cognitive Assessment [MoCA]) and specific neuropsychological domains (verbal fluency, cognitive flexibility, attention, memory, and visuospatial abilities). We included 19 patients with late-onset Pompe disease (age range 11-56 years). Two patients showed mild punctate WMA within normal range for age, with a Fazekas score (FS) of 1 to 2. Magnetic resonance angiography revealed a slight vertebrobasilar dolichoectasia in two patients yet did not show any aneurysms or vascular dissections. Most patients had age-adjusted scores within the normal range for the Wechsler index scores (verbal comprehension, perceptual reasoning, working memory, and processing speed) and combined total intelligence (IQ) score (median 101, interquartile range 91-111; one patient had a below-average score for total IQ) as well as for the specific domains verbal fluency, attention, and memory. A subset of patients performed suboptimally on the Rey Complex Figure Test (9/14 patients) or cube-copying/clock-drawing test of the MoCA (8/10 patients). We therefore concluded that our study showed no brain abnormalities, other than minor microvascular lesions considered within normal range for age, nor general cognitive impairment in late-onset Pompe patients. These findings are in sharp contrast with the widespread WMA and cognitive problems found in some classic infantile patients.

Project description:BackgroundAudiovisual streaming technologies allow detailed remote patient assessment and have been suggested to change management and enhance triage. The advent of wearable, head-mounted devices (HMDs) permits advanced teletoxicology at a relatively low cost. A previously published pilot study supports the feasibility of using the HMD Google Glass® (Google Inc.; Mountain View, CA) for teletoxicology consultation. This study examines the reliability, accuracy, and precision of the poisoned patient assessment when performed remotely via Google Glass®.MethodsA prospective observational cohort study was performed on 50 patients admitted to a tertiary care center inpatient toxicology service. Toxicology fellows wore Google Glass® and transmitted secure, real-time video and audio of the initial physical examination to a remote investigator not involved in the subject's care. High-resolution still photos of electrocardiograms (ECGs) were transmitted to the remote investigator. On-site and remote investigators recorded physical examination findings and ECG interpretation. Both investigators completed a brief survey about the acceptability and reliability of the streaming technology for each encounter. Kappa scores and simple agreement were calculated for each examination finding and electrocardiogram parameter. Reliability scores and reliability difference were calculated and compared for each encounter.ResultsData were available for analysis of 17 categories of examination and ECG findings. Simple agreement between on-site and remote investigators ranged from 68 to 100 % (median = 94 %, IQR = 10.5). Kappa scores could be calculated for 11/17 parameters and demonstrated slight to fair agreement for two parameters and moderate to almost perfect agreement for nine parameters (median = 0.653; substantial agreement). The lowest Kappa scores were for pupil size and response to light. On a 100-mm visual analog scale (VAS), mean comfort level was 93 and mean reliability rating was 89 for on-site investigators. For remote users, the mean comfort and reliability ratings were 99 and 86, respectively. The average difference in reliability scores between on-site and remote investigators was 2.6, with the difference increasing as reliability scores decreased.ConclusionRemote evaluation of poisoned patients via Google Glass® is possible with a high degree of agreement on examination findings and ECG interpretation. Evaluation of pupil size and response to light is limited, likely by the quality of streaming video. Users of Google Glass® for teletoxicology reported high levels of comfort with the technology and found it reliable, though as reported reliability decreased, remote users were most affected. Further study should compare patient-centered outcomes when using HMDs for consultation to those resulting from telephone consultation.

Dataset Information

Mobility assessment using wearable technology in patients with late-onset Pompe disease.

Publications

Mobility assessment using wearable technology in patients with late-onset Pompe disease.

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