Search results for "Disability"
showing 10 items of 989 documents
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome
2017
International audience; Fragile-X syndrome (FXS) is a frequent genetic form of intellectual disability (ID). The main recurrent mutagenic mechanism causing FXS is the expansion of a CGG repeat sequence in the 5'-UTR of the FMR1 gene, therefore, routinely tested in ID patients. We report here three FMR1 intragenic pathogenic variants not affecting this sequence, identified using high-throughput sequencing (HTS): a previously reported hemizygous deletion encompassing the last exon of FMR1, too small to be detected by array-CGH and inducing decreased expression of a truncated form of FMRP protein, in three brothers with ID (family 1) and two splice variants in boys with sporadic ID: a de novo …
Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi synd…
2020
International audience; Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder with a characteristic behavioural phenotype. A multidisciplinary approach to care is required to prevent multiple medical complications in individuals affected by PWS. The aim of this study was to describe the rehabilitation, medical care, educational and social support provided to school-aged French PWS patients with varying neuropsychological profiles. Data were obtained from a French multicentre study that included patients aged 4-20 years with diverse genetic syndromes. Nineteen PWS subjects with a mean age of 9.2 years were included. The mean full-scale intellectual quotient (IQ) was 58 (W…
Oral Palmitoylethanolamide Treatment Is Associated with Reduced Cutaneous Adverse Effects of Interferon-β1a and Circulating Proinflammatory Cytokines…
2016
Palmitoylethanolamide (PEA) is an endogenous lipid mediator known to reduce pain and inflammation. However, only limited clinical studies have evaluated the effects of PEA in neuroinflammatory and neurodegenerative diseases. Multiple sclerosis (MS) is a chronic autoimmune and inflammatory disease of the central nervous system. Although subcutaneous administration of interferon (IFN)-β1a is approved as first-line therapy for the treatment of relapsing–remitting MS (RR-MS), its commonly reported adverse events (AEs) such as pain, myalgia, and erythema at the injection site, deeply affect the quality of life (QoL) of patients with MS. In this randomized, double-blind, placebo-controlled study,…
Balance Training With a Dynamometric Platform Following Total Knee Replacement: A Randomized Controlled Trial.
2018
Background and Purpose: Sensorimotor training has proven to be an efficient approach for recovering balance control following total knee replacement (TKR). The purpose of this trial was to evaluate the influence of specific balance-targeted training using a dynamometric platform on the overall state of balance in older adults undergoing TKR. Methods: This was a randomized controlled clinical trial conducted at a university hospital rehabilitation unit. Patients meeting the inclusion criteria were randomly assigned to a control group or an experimental group. Both groups participated in the same 4-week postoperative rehabilitation training protocol. Participants in the experimental group per…
Development and psychometric properties of an instrument for the Assessment of Sexual Behaviour and Knowledge of people with Intellectual Disability
2020
Background This paper presents psychometric properties of an instrument for the Assessment of Sexual Behaviour and Knowledge of people with Intellectual Disability (ASBKID), other‐reported by professionals who are in daily contact with them. Methods and procedures Assessments of 236 individuals with intellectual disability were obtained from 100 professionals. Results Confirmatory factor analysis revealed a four‐factor structure: concern about the user's inappropriate or uninhibited sexual behaviour; perception of the user's knowledge about privacy and social norms; perception of the user's knowledge about sexuality; and concerns about the user's sexuality. A multi‐group CFA was also conduc…
Participation in collaborative projects as a precursor of trust in organizations for individuals with intellectual disability
2020
The present study focuses on organizations delivering services to individuals with intellectual disability, where trust relations between professionals and family members are required. More specifically, we examine the existence of significant differences in the degree to which family members and professionals trust each other. We also propose that their joint participation in collaborative teams (VI) will improve trust (VD). Specifically, our teams (experimental condition) designed and implemented collaborative projects with the participation of professionals and family members. Participants in the control condition did not participate in the collaborative projects. Our results confirmed t…
‘It’s not a part of me, but it is what it is’: the struggle of becoming en-wheeled after spinal cord injury
2019
Many people who experience spinal cord injury become long-term wheelchair users. This article addresses the process of becoming en-wheeled through the case example of a disabled man called Patrick.An intrinsic case study informed by posthumanist developments was used. Within this design, Patrick and his manual wheelchair were the entangled participants of the inquiry.Interviews and fieldwork observation with Patrick were conducted. Qualitative data were analysed using the posthumanist notion of 'assemblages'.The results illuminate Patrick's struggle of negotiating a new embodied selfhood that includes the wheelchair. Patrick engaged in ableist rehabilitation after spinal cord injury to recu…
Rasch analysis of the Lower Extremity Functional Scale for foot and ankle patients.
2018
Purpose: The Lower Extremity Functional Scale (LEFS) is a widely used 20-item patient-reported outcome instrument with five response categories. We investigated the measurement properties of the Finnish version of the LEFS among foot and ankle patients to refine the scale to measure more accurately what is relevant for patients.Materials and methods: Data were obtained from 182 patients who had undergone foot and ankle surgery for various reasons. The Rasch Measurement Theory and Cronbach's alpha were employed for analyses of model and item fit, response category thresholds, targeting, person separation index, and internal consistency.Results: Threshold misfit was noted in 13 of the 20 item…
Estimating sexual knowledge of people with mild intellectual disability through a valid and reliable assessment scale: The ISK-ID
2021
Background Despite the relevance of assessing sexual knowledge in people with Intellectual Disability, there is a lack of appropriate assessment tools to measure this domain. The current study tests the psychometric properties of the new ‘Inventory of Sexual Knowledge of people with Intellectual Disability’ (ISK-ID). Method 345 individuals with mild intellectual disability completed the ISK-ID before and after the implementation of a sexual education program. Psychometric properties of the ISK-ID were analysed according to Multidimensional Item Response Theory (MIRT). Results Its underlying factorial structure, along with parameters derived from the MIRT (item discrimination, difficulty, an…
Patient-reported impact of spondyloarthritis on work disability and working life: the ATLANTIS survey
2016
Background The aim was to establish how patients experience the impact of spondyloarthritis (SpA) on work disability and working life. Methods The survey was performed in 17/20 regions in Italy (1 January to 31 March 2013). A multiple-choice questionnaire was published on the official website of the sponsor - the National Association of Rheumatic Patients (ANMAR) - and hard-copies were distributed at outpatient clinics for rheumatic patients. Results Respondents (n = 770) were of both sexes (56 % men), educated (62 % at high school or more), of working age (75 % aged ≤60 years), and affected by SpA. The most common types diagnosed were ankylosing spondylitis (AS) (39 %) and psoriatic arthri…