Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): defining and measuring functional impacts in pediatric patients

Background Research about pediatric patients’ perspective on mucopolysaccharidosis type VI (MPS VI) and its impact on daily life is limited. We aimed to identify the disease concepts of interest that most impact function and day-to-day life of pediatric patients with MPS VI, and to consider clinical outcome assessments (COAs) that may potentially measure meaningful improvements in these concepts. Methods Potential focus group participants were identified by the National MPS Society (USA) and invited to participate if they self-reported a clinician-provided diagnosis of MPS VI and were 4 to 18 years, receiving enzyme replacement therapy (ERT), and available to attend a 1-day focus group with their caregiver in Dallas, TX, USA. The focus group consisted of a series of polling and open-ended concept elicitation questions and a cognitive debriefing session. The discussion was audio recorded, transcribed verbatim, and analyzed to identify disease concepts of interest and functional impacts most relevant to participants. Results Overall, caregivers (n = 9) and patients with MPS VI (n = 9) endorsed that although their children/they receive ERT, residual symptoms exist and impact health-related quality of life. The key disease concepts of interest identified were impaired mobility, upper extremity and fine motor deficits, pain, and fatigue. Pain was unanimously reported by all patients across many areas of the body and impacted daily activity. Key disease concepts were mapped to a selection of pediatric COAs including generic measures such as PROMIS®, PODCI, CHAQ, and PedsQL™. Caregivers endorsed the relevance of PODCI and PROMIS Upper Extremity, Mobility, and Pain items and all patients completed the NIH Toolbox Pegboard Dexterity Test. Additional COAs that aligned with the disease concepts included range of motion, the 2- and 6-min walk tests, timed stair climbs, Bruininks-Oseretsky Test of Motor Proficiency, 2nd edition, grip strength, pain visual analog scale, and the Faces Pain Scale-Revised. Conclusion An MPS VI focus group of pediatric patients and their caregivers identified impaired mobility, upper extremity and fine motor deficits, pain, and fatigue as key disease concepts of interest. These disease concepts were mapped to existing pediatric COAs, which were provided to the group for endorsement of their relevance.

Prototyping, Testing, and Redesign of a Three-Wheel Trekking Wheelchair for Accessible Tourism Applications

This work is part of the project called “Gölem project”, started in 2017, about special devices developed to enable the so-called Accessible Tourism. This project aims to design and develop a trekking wheelchair for people with impaired mobility. After an initial phase of design and prototyping, the testing phase has now begun. The objective is to validate several aspects of the design, concerning basic kinematics and dynamics, passenger comfort and physical effort of the carriers. This paper describes the development of qualitative tests for drivability and balance validation of this first prototype. At this stage, a list of features to be investigated was made, suitable trekking paths were chosen, and qualitative experimental field tests were performed. Then, the design of the prototype was modified according to these first experimental results, to improve the wheelchair characteristics. The prototype is now undergoing the modification phase, then further testing will be performed with the use of specific instrumental devices to evaluate the wheelchair itself and to perform the kinematic, dynamical, and comfort characterization.

The Prediction of Inadequate Colon Capsule Cleansing: A Cohort Selection Guided by CC-CLEAR

<b><i>Introduction:</i></b> In order to optimize the rate of adequate cleansing in colon capsule, it may be important to identify risk factors that can predict a suboptimal colon preparation. <b><i>Aim:</i></b>To define predictive factors for inadequate bowel preparation in colon capsule, according to CC-CLEAR (Colon Capsule CLEansing Assessment and Report). <b><i>Methods:</i></b> Retrospective, single center, cohort study. Patients’ demographics, data, and quality of bowel preparation, according to CC-CLEAR, were collected retrospectively. A univariate analysis tested the association between covariables and the outcome, inadequate cleansing. The statistically significant variables were included in multivariable logistic binary regression, and a receiver operating characteristic curve (ROC) assessment was performed. <b><i>Results:</i></b> We included 167 consecutive colon capsules. Sixty-eight percent (<i>n</i> = 114) of patients were female, with a mean age of 64 years. The main indication for colon capsule was previous incomplete colonoscopy, in 158 patients (94.6%). The colon capsules cleansing was graded as good or excellent in 96 patients (57.5%) and as inadequate in 71 (42.5%), according to CC-CLEAR. The variables inadequate previous colon cleansing (OR adjusted 41.72 [95% CI 12.57–138.57], <i>p</i> value &#x3c; 0.001); chronic laxative (OR adjusted 4.86 [95% CI 1.08–21.79], <i>p</i> value = 0.039); antidepressant (OR adjusted 5.00 [95% CI 1.65–15.16], <i>p</i> value = 0.004), and impaired mobility (OR adjusted 5.54 [95% CI 1.17–26.31], <i>p</i> value = 0.031) were independently associated with the outcome inadequate cleansing, after adjusting for confoundment. The model presented an excellent discriminative power towards the outcome variable (AUC ROC 0.937 [CI 95% 0.899–0.975], <i>p</i> value &#x3c; 0.001). <b><i>Conclusion:</i></b> A previous inadequate colon cleansing, the use of chronic laxative and antidepressant, or impaired mobility are predictors of inadequate colon capsule cleansing, as assessed by the CC-CLEAR. These 4 predictors come together as a model enabling an accurate categorization of the patients at major risk of inadequate bowel preparation for capsule colonoscopy, with an excellent discriminative power and performance, which seems useful for the selection of patients for tailored optimization of the colon cleansing protocol.

Audiological and Other Factors Influencing Serious Injury From Falls in Adults With Intellectual and Developmental Disabilities

Purpose Falls in adults with intellectual and developmental disabilities (IDDs) are a challenge for the organizations responsible for their management and care. This study represents the initiation of a program to identify, manage, and rehabilitate individuals at risk for falls in this population. Method A retrospective analysis of an active database was provided by the East Tennessee Regional Office of the Department of Intellectual and Developmental Disabilities. The data from 1,652 reportable falls from state-contracted support agencies over the calendar years of 2016–2018 were analyzed using chi-square and decision tree analyses for a dependent variable of serious injury and independent variables consisting of hearing deficits, impaired mobility including balance and vestibular deficits, enrollment in current physical therapy services for impaired mobility, staff instructions present for individuals at risk for falls, staff instructions followed, falls training for the supporting staff, current fall prevention plan in place, aggressive or compulsive behaviors, history of falls, medical conditions, visual deficits, familiar environments, adaptive equipment, intrinsic and extrinsic factors, medication change/side effects, obesity, and repeat falls. Results Significant factors included age, aggressive/compulsive behaviors, physical therapist (PT) services, balance deficits, and intrinsic factors. Post hoc analysis also indicated individuals receiving PT with a history of falls increased their risk of serious injury in unfamiliar environments. Individuals not receiving PT and exhibiting aggressive behaviors increased their risk of serious injury with visual deficits. For individuals not receiving PT services and not exhibiting aggressive behaviors, intrinsic factors increased the risk of serious injury. Conclusions These results describe the characteristics that can predict an increased risk for serious injury from a fall in an adult community-dwelling population with IDDs. These data can be used to implement changes to reduced injury from falls, including improved identification of undiagnosed vestibular deficits and assessment for the need for vestibular rehabilitation.

The impact of impaired DNA mobility on gene electrotransfer efficiency: analysis in 3D model

Background Gene electrotransfer is an established method that enables transfer of DNA into cells with electric pulses. Several studies analyzed and optimized different parameters of gene electrotransfer, however, one of main obstacles toward efficient electrotransfection in vivo is relatively poor DNA mobility in tissues. Our aim was to analyze the effect of impaired mobility on gene electrotransfer efficiency experimentally and theoretically. We applied electric pulses with different durations on plated cells, cells grown on collagen layer and cells embedded in collagen gel (3D model) and analyzed gene electrotransfer efficiency. In order to analyze the effect of impaired mobility on gene electrotransfer efficiency, we applied electric pulses with different durations on plated cells, cells grown on collagen layer and cells embedded in collagen gel (3D model) and analyzed gene electrotransfer efficiency. Results We obtained the highest transfection in plated cells, while transfection efficiency of embedded cells in 3D model was lowest, similarly as in in vivo. To further analyze DNA diffusion in 3D model, we applied DNA on top or injected it into 3D model and showed, that for the former gene electrotransfer efficiency was similarly as in in vivo. The experimental results are explained with theoretical analysis of DNA diffusion and electromobility. Conclusion We show, empirically and theoretically that DNA has impaired electromobility and especially diffusion in collagen environment, where the latter crucially limits electrotransfection. Our model enables optimization of gene electrotransfer in in vitro conditions.

640 Relationship of Pre-existing Impaired Functional Mobility to Burn Outcomes

Introduction It is well-established that burn severity is determined by size of surface area affected, temperature of source and duration of exposure. Patients with impaired mobility, regardless of etiology, are less capable of avoiding and escaping traumatic injuries. Additionally, patients with impaired mobility frequently suffer from other co-morbid conditions and have specialized needs which can complicate their acute illness/injury, prolong their hospital length of stay, and impact recovery. Methods This was an IRB- Exempted retrospective electronic medical records review of all adult patients, aged 18 years and older with pre-existing mobility impairment, admitted as inpatients for treatment of burn-related injuries from January 1, 2009 to December 31, 2019 Results The 10 year review of 1648 adult burn admissions meeting the initial criteria of inpatient admission and burn injury, 178 were found to have documentation supporting pre-existing functional mobility impairment (11%). Rolling walker use (33%) was most common, followed by cane (28%). Contrary to the initial hypothesis, patients actually had overall lengths of stays consistent with all burn populations at 0.81 days per % total body surface area, with average length of stay being 6.7 days. The demographic data was also consistent with national burn registry data as primarily male, Caucasian population, though older, with mean age of 61.1 years. Regression analysis identified relationships between burn size and discharge disposition. Additionally, statistically significant relationships were identified between BMI and the pre-existing co-morbid illness Diabetes and Chronic Obstructive Pulmonary Disease. Conclusions There is a paucity of literature describing the needs of this unique burn population. Burn-injured patients with pre-existing impaired mobility suffer from similar mechanisms of injury, although the source for the thermal burns is more likely to originate from smoking on home oxygen, are treated conservatively and return home without home health.

A review of South African Public Healthcare policies addressing Service Delivery for wheelchairs through a Primary Health Care lens

ABSTRACT INTRODUCTION: In some areas of South Africa, people with impaired mobility are known to have difficulty accessing wheelchairs. This study aimed to critically appraise public healthcare policies addressing service delivery in terms of assistive devices in general, and more specifically wheelchairs within primary health care METHOD: South African public healthcare policies that address assistive device service delivery were identified and thematically analysed using retrospective deductive document analysis. The themes used correspond to the WHO guidelines for the provision of wheelchairs within the context of the guiding principles of primary health care i.e., accessibly, affordability, acceptability, appropriateness, and availability. An analysis was undertaken on how the provision of assistive devices under these principles was addressed RESULTS: Three policies were identified addressing assistive device service delivery i.e. The National Rehabilitation Policy, The Policy Framework and Strategy for Disability and Rehabilitation Services in South Africa 2015 - 2020, and the National Health Insurance Policy. The National Rehabilitation Policy addressed the majority of the WHO guiding principles on wheelchair provision. Guidelines for non-discriminatory and evidence-based service delivery and the availability of assistive devices were identified in all the documents. Scant attention was paid to service delivery of assistive devices for people residing in urban or peri-urban areas. There was a paucity of guidance on service delivery to people with impaired mobility who were unable to access health services, those unaware of the services available and those who were not aware of the benefits of an assistive device CONCLUSION: The policies, viewed together, addressed all the WHO guiding principles, although some gaps were observed in each policy. A proposal emanating from this review was that an update of the National Rehabilitation Policy would address these deficiencies Keywords: assistive devices, health policy, impaired mobility, disability, rehabilitation