Search results for "Disability"
showing 10 items of 989 documents
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of…
2017
International audience; PurposeCongenital anomalies and intellectual disability (CA/ID) are a major diagnostic challenge in medical genetics—50% of patients still have no molecular diagnosis after a long and stressful diagnostic “odyssey.” Solo clinical whole-exome sequencing (WES) was applied in our genetics center to improve diagnosis in patients with CA/ID.MethodsThis retrospective study examined 416 consecutive tests performed over 3 years to demonstrate the effectiveness of periodically reanalyzing WES data. The raw data from each nonpositive test was reanalyzed at 12 months with the most recent pipeline and in the light of new data in the literature. The results of the reanalysis for …
Prognostic indicators in pediatric clinically isolated syndrome
2017
Objective To assess prognostic factors for a second clinical attack and a first disability-worsening event in pediatric clinically isolated syndrome (pCIS) suggestive of multiple sclerosis (MS) patients. Methods A cohort of 770 pCIS patients was followed up for at least 10 years. Cox proportional hazard models and Recursive Partitioning and Amalgamation (RECPAM) tree-regression were used to analyze data. Results In pCIS, female sex and a multifocal onset were risk factors for a second clinical attack (hazard ratio [HR], 95% confidence interval [CI] = 1.28, 1.06–1.55; 1.42, 1.10–1.84, respectively), whereas disease-modifying drug (DMD) exposure reduced this risk (HR, 95% CI = 0.75, 0.60–0.95…
The Impact of Body Mass Index on Disease Progression in Ankylosing Spondylitis
2018
Abstract Obesity can be a factor that affects the course of chronic systemic inflammatory arthritis. The objective of this study was to characterise patients with ankylosing spondylitis (AS) according to an evaluation of their body mass index (BMI) and by exploring the link between the overweightness and obesity with routinely measured disease-specific variables, including disease activity (Bath Ankylosing Spondylitis Disease Activity Index BASDAI; Ankylosing Spondylitis Disease Activity Score, using CRP, ASDAScrp), spinal mobility (Bath Ankylosing Spondylitis Metrology Index, BASMI), functional capacity (BASFI), extraspinal manifestations like fatigue, uveitis, and peripheral arthritis pre…
Ultrasound Biomarkers for Sarcopenia: What Can We Tell So Far?
2020
AbstractSarcopenia is a disease characterized by decreased skeletal muscle mass, strength, and loss of function that can impair quality of life and increase physical disability, adverse metabolic effects, and mortality. This review familiarizes the reader with ultrasound (US)-based biomarkers for sarcopenia with a discussion of these topics: why assessing sarcopenia is relevant for radiologists, how to evaluate muscle structure with US, the current challenges or pitfalls of these biomarkers, and the implications of all the available evidence. It summarizes the most up-to-date literature on the pathophysiology behind the use of these US-based biomarkers, the biomarkers themselves, and a prot…
People with Disabilities and Disasters
2017
Investigations have collectively established that disasters affect people with disabilities both disproportionately and negatively. In addition, perceived disability status is often associated with stigma, creating a separate and unique barrier across societies and cultures, which can augment vulnerability to disasters. Relevant research is reviewed by academic genesis areas in this chapter, namely; 1) disaster-focused research, 2) mental health, 3) epidemiology and public health, and 4) disability studies. Research emanating from these disciplines reflects different epistemological assumptions about disability as well as varying knowledge about disability as a social and cultural const…
Exploring the profiles of children with autism spectrum disorder: association with family factors.
2019
This study aimed to identify different profiles of children with autism spectrum disorder (ASD) without intellectual disability (ID) and maternal factors characteristic of these profiles. Participants were 89 children between 7 and 11 years old and their mothers, distributed in two groups, 52 children with ASD and 37 with typical development (TD). Based on the children’s adaptive, behavioral, and pragmatic manifestations, three clusters were obtained in the ASD group. Children with the most serious difficulties in all the domains assessed were assigned to Cluster 1, whereas the children in Cluster 3 were characterized by relatively minor problems. Cluster 2 comprised children with moderate …
Enhancing daily living skills in four adults with autism spectrum disorder through an embodied digital technology-mediated intervention
2019
Abstract Background The acquisition of daily living skills is fundamental in the education of people with Autism Spectrum Disorder (ASD), especially of those with Intellectual Disability (ID), because this can significantly contribute to their autonomy, self-confidence and overall life satisfaction. The purpose of this study was to assess the impact of an embodied Digital Technology (DT)-mediated intervention, compared to a Treatment-As-Usual (TAU) intervention, for enhancing two daily living skills: washing dishes and doing laundry. Method Four males of between 25 and 37 years old with ASD and ID participated in the study. The two interventions were based on audio and picture prompting ins…
Teaching Children with Intellectual Disabilities: Analysis of Research-Based Recommendations
2016
<p>The purpose of this qualitative study was to produce an overview of topics and practical recommendations that have been presented for teaching for students with intellectual disabilities in educational research articles published from 2000 to 2013. The sample of peer-reviewed research articles considering this topic was selected using a database search of the Educational Resources Information Center (ERIC). To represent the richness of this research area, the topic was purposely left broad, and the outline was made by focusing on the practical implications of research articles. These recommendations were identified, classified, synthesized, and evaluated. The implications for pract…
Internet and People with Intellectual Disability: A Bibliometric Analysis
2020
The use of the Internet by people with intellectual disabilities is an area of study that has captured the interest of scientists in recent years. The studies have focused on analyzing specific aspects such as usability, the activities carried out online, and Internet benefits and risks, among others. The reviews published on this matter have been of a narrative or systematic approach. The present study aimed to examine the academic output in the field of Internet and people with intellectual disability from a bibliometric perspective. A sample of 95 documents related to the topic was retrieved from the core collection of Web of Science (WoS) and analyzed using the bibliometrix R-Tool. Find…
Photovoice—Towards Engaging and Empowering People with Intellectual Disabilities in Innovation
2020
E-health and welfare technology offer new ways to support health and social care delivery. While initiatives are made to engage disadvantaged user groups in innovation, people with intellectual disabilities tend to be excluded from design activities. This is a concern as this group can benefit from the use of assistive technology. However, it can be time-consuming and challenging to involve end-users in the design of technology. This calls for processes that are creative, empowering and that facilitate user involvement. In this study, we report and reflect on the process of using photovoice to understand user needs and to empower participants with intellectual disability in an innovation pr…