Search results for " DISABILITY"
showing 10 items of 673 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,…
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…
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…
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome.
2012
Background Acrocallosal syndrome (ACLS) is a rare recessive disorder characterised by corpus callosum agenesis or hypoplasia, craniofacial dysmorphism, duplication of the hallux, postaxial polydactyly, and severe mental retardation. Recently, we identified mutations in KIF7, a key component of the Sonic hedgehog pathway, as being responsible for this syndrome. Methods We sequenced KIF7 in five suspected ACLS cases, one fetus and four patients, based on facial dysmorphism and brain anomalies. Results Seven mutations were identified at the KIF7 locus in these five cases, six of which are novel. We describe the first four compound heterozygous cases. In all patients, the diagnosis was suspecte…
Redefining the MED13L syndrome
2015
Congenital cardiac and neurodevelopmental deficits have been recently linked to the mediator complex subunit 13-like protein MED13L, a subunit of the CDK8-associated mediator complex that functions in transcriptional regulation through DNA-binding transcription factors and RNA polymerase II. Heterozygous MED13L variants cause transposition of the great arteries and intellectual disability (ID). Here, we report eight patients with predominantly novel MED13L variants who lack such complex congenital heart malformations. Rather, they depict a syndromic form of ID characterized by facial dysmorphism, ID, speech impairment, motor developmental delay with muscular hypotonia and behavioral difficu…
The Impact of Abuse and Learning Difficulties on Emotion Understanding in Late Childhood and Early Adolescence
2014
Children's affective experiences and cognitive abilities have an impact on emotion understanding. However, their relative contribution, as well as the possibility of an interaction between them, has rarely been examined. The aim of the present study was to evaluate the influence of severe abuse and learning difficulties on simple and complex components of emotion understanding in late childhood and early adolescence. A total of 28 older children and young adolescents were selected for the study. Half of the participants had suffered from severe abuse, and half of these abused children additionally had learning disabilities. The remaining half of the sample had no history of abuse but were m…