Search results for " intellect"
showing 10 items of 172 documents
Polysomnographic Findings in Fragile X Syndrome Children with EEG Abnormalities
2019
Fragile X syndrome (FXS) is a genetic syndrome with intellectual disability due to the loss of expression of the FMR1 gene located on chromosome X (Xq27.3). This mutation can suppress the fragile X mental retardation protein (FMRP) with an impact on synaptic functioning and neuronal plasticity. Among associated sign and symptoms of this genetic condition, sleep disturbances have been already described, but few polysomnographic reports in pediatric age have been reported. This multicenter case-control study is aimed at assessing the sleep macrostructure and at analyzing the presence of EEG abnormalities in a cohort of FXS children. We enrolled children with FXS and, as controls, children wit…
Loss‐of‐function variants in ARHGEF9 are associated with an X‐linked intellectual disability dominant disorder
2021
ARHGEF9 defects lead to an X-linked intellectual disability disorder related to inhibitory synaptic dysfunction. This condition is more frequent in males, with a few affected females reported. Up to now, sequence variants and gross deletions have been identified in males, while only chromosomal aberrations have been reported in affected females who showed a skewed pattern of X-chromosome inactivation (XCI), suggesting an X-linked recessive (XLR) disorder. We report three novel loss-of-function (LoF) variants in ARHGEF9: A de novo synonymous variant affecting splicing (NM_015185.2: c.1056G>A, p.(Lys352=)) in one female; a nonsense variant in another female (c.865C>T, p.(Arg289*)), that is, a…
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
2019
AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca2+-impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients with intellectual disability (ID) and neurodevelopmental abnormalities including autism spectrum disorder (ASD), Rett syndrome-like features, and seizures or developmental epileptic encephalopathy (DEE). In functional expression studies, mutations lead to a dec…
Students' academic and emotional adjustment during the transition from primary to secondary school
2019
The current study examined several indicators of students' academic and emotional adjustment during the transition from primary (i.e., grade 6) to secondary school (i.e., grades 7 and 9). Specifically, the study investigated how students' engagement, achievement, and burnout, as well as student-teacher conflict, evolve together over time. A total of 356 adolescents (57.3% boys) filled out questionnaires about their burnout and their behavioral and cognitive engagement. Students' achievement was measured using standardized test scores. Conflict in the teacher-student relationship was assessed using teacher ratings. Cross-lagged models revealed bi-directional associations between behavioral a…
Cognitive functioning in orthostatic hypotension due to pure autonomic failure.
2004
Psychophysiological science proposes close interactions between cognitive processes and autonomic responses, yet the consequences of autonomic failure on cognitive functioning have not been documented. This pilot study investigates, for the first time, the cognitive profile of 14 patients with Pure Autonomic Failure (PAF). Each patient was administered a comprehensive battery of neuropsychological tests and neuroimaging investigation. A number of patients (n = 6) presented with cognitive impairment. The two most frequent types of impairment were: deficits of speed and attention, and executive functioning. Impairments of free recall memory, intellectual functioning, nominal and calculation f…
Electroencephalographic Abnormalities in Autism Spectrum Disorder: Characteristics and Therapeutic Implications.
2020
A large body of literature reports the higher prevalence of epilepsy in subjects with Autism Spectrum Disorder (ASD) compared to the general population. Similarly, several studies report an increased rate of Subclinical Electroencephalographic Abnormalities (SEAs) in seizure-free patients with ASD rather than healthy controls, although with varying percentages. SEAs include both several epileptiform discharges and different non-epileptiform electroencephalographic abnormalities. They are more frequently associated with lower intellectual functioning, more serious dysfunctional behaviors, and they are often sign of severer forms of autism. However, SEAs clinical implications remain controver…
The test accuracy of the Montreal Cognitive Assessment (MoCA) by stroke lateralisation
2017
Abstract Background The Montreal Cognitive Assessment (MoCA) is an increasingly popular screening tool for detecting cognitive impairment post-stroke. However its' test accuracy by stroke lateralisation is as yet unknown. Aim Our aim was to investigate whether the test accuracy of the MoCA differs by stroke lateralisation across different cognitive domains. Methods We retrospectively examined the cognitive profiles of 228 subacute stroke patients (86 Left, 142 Right), comparing MoCA-total and domain-specific scores with performance on detailed neuropsychological assessment. Results The prevalence of cognitive impairment detected on neuropsychological assessment was high and relatively compa…
L'approche basée sur le génotype déterminé par séquençage haut-débit en première intention et le partage international des données pour identifier de…
2019
Developmental disorders (DD) include malformative disorders and neurodevelopmental disorders such as intellectual disability (ID) and autism spectrum disorders (ASD). These clinical features can be isolated or combined in a given patient, they affect around 3% of worldwide population. These disorders are responsible for major morbidity and mortality, for hospitalization especially in pediatric departments, for disabilities and, therefore, this represents a public health priority. Since 2004, in France, several national plans were conducted and extended, the last one being the 3rd National Plan for Rare Disorders (PNMR 2018-2022) which include 10 main goals, among others increasing diagnosis…
Intellectual engagements of accounting academics: The ‘forecasted losses' intervention
2022
This paper explores the social and political potential of accounting scholarship, presenting and discussing an intellectual intervention challenging a legislative reform that significantly affected Spanish industrial relations. In this reform, an accounting artifact (forecasted losses) played an unexpected role and was misrepresented, prompting a sizeable number of scholars to sign two manifestos in 2010 and 2012 against the use of forecasted losses made by the new legislation. As promoters of this manifesto, we perform in this paper a collaborative autoethnography to reflect on the context, events, reactions, and significance of this intervention for both the academic and the industrial re…
ATTRIBUTION STYLE AND INTERNAL STATE LEXICON: A COMPARISON BETWEEN INDIVIDUALS WITH INTELLECTUAL DISABILITY AND TYPICAL DEVELOPMENT
2012
Current theories of intellectual disabilities underlie an approach centred on a more complete description of the development, known as “the whole child approach”, in which emphasis is placed on the reciprocal relationships between the cognitive and motivational dimensions which characterise development. In particular, subjects with intellectual disabilities, who have experienced repeated failures, may develop an attribution profile characterised by a bias towards primarily external causes. However the consideration of internal causes, such as effort and ability, requires the involvement of higher metacognitive and metalinguistic levels. Consequently, attribution to effort requires an awaren…