Search results for " Disability"
showing 10 items of 673 documents
mRNA COVID-19 vaccines do not increase the short-term risk of clinical relapses in multiple sclerosis
2021
Multiple sclerosis (MS) is a chronic, immune-mediated disorder of the central nervous system. A novel coronavirus, namely SARS-CoV-2, has been recently responsible for the highly infectious disease referred as COVID-19, rapidly spreading all over the world. Many vaccines have been developed to control COVID-19 pandemic, including the mRNA vaccines Pfizer/BioNTech (BNT162b2) and Moderna (mRNA1273).1 The vaccination of people with MS (pwMS) has been recommended by several national and international MS societies. However, effectiveness and safety of anti-COVID-19 mRNA vaccines in MS need to be confirmed. The aim of this study was to evaluate the short-term risk of clinical relapses in pwMS in …
First Case Report of Primary Carnitine Deficiency Manifested as Intellectual Disability and Autism Spectrum Disorder
2019
Systemic primary carnitine deficiency (PCD) is a genetic disorder caused by decreased or absent organic cation transporter type 2 (OCTN2) carnitine transporter activity, resulting in low serum carnitine levels and decreased carnitine accumulation inside cells. In early life, PCD is usually diagnosed as a metabolic decompensation, presenting as hypoketotic hypoglycemia, Reye syndrome, or sudden infant death; in childhood, PCD presents with skeletal or cardiac myopathy. However, the clinical presentation of PCD characterized by autism spectrum disorder (ASD) with intellectual disability (ID) has seldom been reported in the literature. In this report, we describe the clinical features of a sev…
Periodontal disorders in a cohort of patients with Cohen syndrome
2020
AIMS Cohen syndrome (CS) is an uncommon autosomal recessive disorder due to mutations in vacuolar protein sorting 13B, with an intermittent presence of neutropenia. Contrary to other clinical phenotypic features, oral health has been little investigated in CS. We described oral health and dental hygiene in a cohort of CS patients. METHODS AND RESULTS Twelve CS patients with neutropenia (<1500/mm3 ) were recruited in the dental department of Dijon University Hospital (France). Patients underwent oral examination, and blood samples were collected. Oral health markers were described and compared between patients with moderate and severe neutropenia (<500/mm3 ). In 12 patients (mean age = 21.1 …
Le corps vécu et l’expérience du handicap
2008
RésuméCet article fait état d’un dialogue avec M. Marcel Nuss, atteint depuis l’enfance d’une grave amyotrophie spinale, à propos de l’expérience du corps vécu. Il s’agit d’abord de décrire la manière dont une personne ordinaire ressent son corps, notamment par l’intermédiaire de la phénoménologie de Maurice Merleau-Ponty, puis de confronter certaines hypothèses à l’expérience d’une personne en situation de handicap. Le corps vécu ou corps propre désigne ici une expérience consciente du corps comme puissance d’action au sens de Merleau-Ponty, comme enveloppe corporelle au sens de D. Anzieu, enfin comme unité proprioceptive. Nous nous demanderons dans quelle mesure nous pouvons approcher l’e…
Environmental Barriers and Facilitators to Physical Activity among University Students with Physical Disability—A Qualitative Study in Spain
2021
This paper qualitatively examines environmental factors operating as barriers and/or facilitators to participation in physical activity (PA) of people with physical disabilities. Interview data were collected from 27 Spanish university students through the innovative method of two-on-one interviews. Thereafter, data were subject to a flexible thematic analysis. Three themes were constructed: associations
Computational Analysis of Clinical and Molecular Markers and New Theranostic Possibilities in Primary Open-Angle Glaucoma
2020
Primary open-angle glaucoma (POAG) is a paramount cause of irreversible visual disability worldwide. We focus on identifying clinical and molecular facts that may help elucidating the pathogenic mechanisms of the disease. By using ophthalmological approaches (biomicroscopy, ocular fundus, optical coherence tomography, and perimetry) and experimental tests (enzyme-linked immunosorbent assay (ELISA), high performance liquid chromatography (HPLC), and Western blot/immunoblotting) directed to evaluate the oxidative stress, inflammation, apoptosis, and neurodegeneration processes, we gather information to build a network of data to perform a computational bioinformatics analysis. Our results sho…
‘I Got To Answer the Way I Wanted To’: Intellectual Disabilities and Participation in Technology Design Activities
2021
User involvement in technology design processes can have positive implications for the designed service, but less is known about how such participation affects people with intellectual disabilities. We explored how 13 individuals with intellectual disabilities experienced participation in the design of a transport support application. The study is based on qualitative interviews, photovoice interviews, participant observations, and Smileyometer ratings. A thematic analysis generated the following themes: a sense of pride and ownership, an experience of socialization, and a sense of empowerment. The findings suggest that participation in design activities is a primarily positive experience t…
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant.
2021
Almost half of all individuals affected by intellectual disability (ID) remain undiagnosed. In the Solve-RD project, exome sequencing (ES) datasets from unresolved individuals with (syndromic) ID (n = 1,472 probands) are systematically reanalyzed, starting from raw sequencing files, followed by genome-wide variant calling and new data interpretation. This strategy led to the identification of a disease-causing de novo missense variant in TUBB3 in a girl with severe developmental delay, secondary microcephaly, brain imaging abnormalities, high hypermetropia, strabismus and short stature. Interestingly, the TUBB3 variant could only be identified through reanalysis of ES data using a genome-wi…
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
2020
PurposeMarfanoid habitus (MH) combined with intellectual disability (ID) (MHID) is a clinically and genetically heterogeneous presentation. The combination of array CGH and targeted sequencing of genes responsible for Marfan or Lujan–Fryns syndrome explain no more than 20% of subjects.MethodsTo further decipher the genetic basis of MHID, we performed exome sequencing on a combination of trio-based (33 subjects) or single probands (31 subjects), of which 61 were sporadic.ResultsWe identified eight genes with de novo variants (DNVs) in at least two unrelated individuals (ARID1B, ATP1A1, DLG4, EHMT1, NFIX, NSD1, NUP205 and ZEB2). Using simulation models, we showed that five genes (DLG4, NFIX, …
Quality assurance of decision-making in conversations between professionals and non-professionals: identifying the presence of deliberative principles
2012
The ideal of dialogue is at stake in professional conversations. The aim of this study is to develop an instrument that makes it possible to compare principles of deliberation with what actually takes place in professional conversations. The developed instrument is tested on one patient's conversation with his doctor about lifestyle changes, and meetings where pupils with learning disabilities and their parents discuss further schooling with school representatives. Although in need of refinement, the conclusion is that the instrument provides meaningful insight into how much each participant 'contributes' to the decision-making process and 'behaves' during the conversation.