Search results for "Intellect"
showing 10 items of 642 documents
Emozioni, sensazioni, intelletto. Riflessioni sulla problematica opposizione razionale/irrazionale
2022
The opposition between a rational and an irrational behavior or thought poses difficulties in understanding: what do we really mean by «irrational»? A behavior or a thought that adheres to emotions and does not arise from slow reflection can be considered irrational; on the other hand, can we state that emotional reactions and intuitions are «irrational»? I draw from Aristotle’s De Anima the idea of bringing emotions, sensations and intellect back to a unitary movement and placing them in a certain distinction with respect to dianoetic reason; Aristotelian’s bestowal of cognitive value on emotions was then lost, in Western gnoseology, in parallel with the devaluation of the prerogatives of …
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…
9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping
2016
International audience; The increasing use of array-CGH in malformation syndromes with intellectual disability could lead to the description of new contiguous gene syndrome by the analysis of the gene content of the microdeletion and reverse phenotyping. Thanks to a national and international call for collaboration by Achropuce and Decipher, we recruited four patients carrying de novo overlapping deletions of chromosome 9q33.3q34.11, including the STXBP1, the LMX1B and the ENG genes. We restrained the selection to these three genes because the effects of their haploinsufficency are well described in the literature and easily recognizable clinically. All deletions were detected by array-CGH …
Theory of Mind Profiles in Children With Autism Spectrum Disorder: Adaptive/Social Skills and Pragmatic Competence
2020
Theory of Mind (ToM) is one of the most relevant concepts in the field of social cognition, particularly in the case of Autism Spectrum Disorders (ASD). Literature showing that individuals with ASD display deficits in ToM is extensive and robust. However, some related issues deserve more research: the heterogeneous profile of ToM abilities in children with ASD and the association between different levels of ToM development and social, pragmatic, and adaptive behaviors in everyday life. The first objective of this study was to identify profiles of children with ASD without intellectual disability (ID), based on explicit and applied ToM knowledge, and compare these profiles with a group of ch…
Expanding the clinical phenotype of patients with a ZDHHC9 mutation.
2013
In 2007, 250 families with X-linked intellectual disability (XLID) were screened for mutations in genes on the X-chromosome, and in 4 of these families, mutations in the ZDHHC9 gene were identified. The ID was either isolated or associated with a marfanoid habitus. ZDHHC9 encodes a palmitoyl transferase that catalyzes the posttranslational modification of NRAS and HRAS. Since this first description, no additional patient with a ZDHHC9 mutation has been reported in the literature. Here, we describe a large family in which we identified a novel pathogenic ZDHHC9 nonsense mutation (p.Arg298*) by parallel sequencing of all X-chromosome exons. The mutation cosegregated with the clinical phenotyp…
Available Defences in Provisional measures: Between the Enforcement Directive and National law
2015
AbstractThe EU Enforcement Directive provides a set of provisional measures to be applied upon request from a right-holder of a particular object of intellectual property. Simultaneously, the EU Enforcement Directive envisages a set of defences for an alleged infringer (defendant) in order to safeguard the balance of the parties. This article discusses available defences for an alleged infringer in the provisional measures as provided by the EU Member States when the norms of the EU Enforcement Directive are transposed. Specifically, the present article not only focuses on the threshold of evidence to be presented by a plaintiff for the application of provisional measures, but also in regar…
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…
Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly
2021
International audience; 13q12.3 microdeletion syndrome is a rare cause of syndromic intellectual disability. Identification and genetic characterization of patients with 13q12.3 microdeletion syndrome continues to expand the phenotypic spectrum associated with it. Previous studies identified four genes within the approximately 300 Kb minimal critical region including two candidate protein coding genes: KATNAL1 and HMGB1. To date, no patients carrying a sequence-level variant or a single gene deletion in HMGB1 or KATNAL1 have been described. Here we report six patients with loss-of-function variants involving HMGB1 and who had phenotypic features similar to the previously described 13q12.3 m…
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
2013
Marinesco-Sjogren syndrome is a rare autosomal recessive multisystem disorder featuring cerebellar ataxia, early-onset cataracts, chronic myopathy, variable intellectual disability and delayed motor development. More recently, mutations in the SIL1 gene, which encodes an endoplasmic reticulum resident co-chaperone, were identified as the main cause of Marinesco-Sjogren syndrome. Here we describe the results of SIL1 mutation analysis in 62 patients presenting with early-onset ataxia, cataracts and myopathy or combinations of at least two of these. We obtained a mutation detection rate of 60% (15/25) among patients with the characteristic Marinesco-Sjogren syndrome triad (ataxia, cataracts, m…
Measuring Motor Skills in Finnish Children with Intellectual Disabilities
2013
This investigation examined differences in motor skill development between Finnish children (12 boys, 8 girls) with mild intellectual disability and typically developing Finnish children between the ages of 7 and 11 years. Ulrich's Test of Gross Motor Development (TGMD) assessed the performances of 20 children with intellectual disability and an age- and sex-matched sample of 20 children without disabilities. Videotaped performances were assessed by the authors who were very familiar with the TGMD–2. The group with intellectual disability performed at a statistically significantly lower level on the Gross Motor Quotient, Locomotor, and Object Control subtests of TGMD–2, compared to the gro…