Search results for "PsyArXiv|Social and Behavioral Sciences|Social and Personality Psychology|Disability"
showing 10 items of 1093 documents
Devil in disguise : does drinking lead to a disability pension?
2016
Abstract Objectives To examine whether alcohol consumption in adulthood is related to the incidence of receiving a disability pension later in life. Methods Twin data for Finnish men and women born before 1958 were matched to register-based individual information on disability pensions. Twin differences were used to eliminate both shared environmental and genetic factors. The quantity of alcohol consumption was measured as the weekly average consumption using self-reported data from three surveys (1975, 1981 and 1990). The disability pension data were evaluated from 1990–2004. Results The models that account for shared environmental and genetic factors reveal that heavy drinkers are signifi…
Two systems of maintenance in verbal working memory: evidence from the word length effect.
2013
The extended time-based resource-sharing (TBRS) model suggested a working memory architecture in which an executive loop and a phonological loop could both support the maintenance of verbal information. The consequence of such a framework is that phonological effects known to impact the maintenance of verbal information, like the word length effect (WLE), should depend on the use of the phonological loop, but should disappear under the maintenance by the executive loop. In two previous studies, introducing concurrent articulation in complex span tasks barely affected WLE, contradicting the prediction from the TBRS model. The present study re-evaluated the WLE in a complex span task while co…
Validation of the Spanish version of the Franciscan Hospital for Children Oral Health-Related Quality of Life questionnaire.
2018
Background The Franciscan Hospital for Children Oral Health-Related Quality of Life questionnaire (FHC-OHRQOL-Q) is an instrument designed specifically for parents and caregivers of patients with special needs that has not yet been applied in Spain. The aim of this study was to adapt it to Spanish and evaluate its reliability and validity in patients with intellectual disability (ID) treated under general anesthesia. Material and Methods The study was conducted in two different stages: a) cross-cultural adaptation of the original questionnaire, and b) cross-sectional study on 100 parents and caregivers who completed the piloted FHC-OHRQOL-Q. The patients were examined according to the WHO m…
Easy-to-read Texts for Students with Intellectual Disability: Linguistic Factors Affecting Comprehension
2013
Background: The use of ‘easy-to-read’ materials for people with intellectual disabilities has become very widespread but their effectiveness has scarcely been evaluated. In this study, the framework provided by Kintsch's Construction–Integration Model (1988) is used to examine (i) the reading comprehension levels of different passages of the Spanish text that have been designed following easy-to-read guidelines and (ii) the relationships between reading comprehension (literal and inferential) and various linguistic features of these texts. Method: Sixteen students with mild intellectual disability and low levels of reading skills were asked to read easy-to-read texts and then complete a rea…
Phenotype associated with TAF2 biallelic mutations: a clinical description of four individuals and review of the literature
2021
International audience; Transcription factor IID is a multimeric protein complex that is essential for the initiation of transcription by RNA polymerase II. One of its critical components, the TATA-binding protein-associated factor 2, is encoded by the gene TAF2. Pathogenic variants of this gene have been shown to be responsible for the Mental retardation, autosomal recessive 40 syndrome. This syndrome is characterized by severe intellectual disability, postnatal microcephaly, pyramidal signs and thin corpus callosum. Until now, only three families have been reported separately. Here we report four individuals, from two unrelated families, who present with severe intellectual disability and…
Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies
2012
Contains fulltext : 110038.pdf (Publisher’s version ) (Closed access) Potocki-Shaffer syndrome (PSS) is a contiguous gene disorder due to the interstitial deletion of band p11.2 of chromosome 11 and is characterized by multiple exostoses, parietal foramina, intellectual disability (ID), and craniofacial anomalies (CFAs). Despite the identification of individual genes responsible for multiple exostoses and parietal foramina in PSS, the identity of the gene(s) associated with the ID and CFA phenotypes has remained elusive. Through characterization of independent subjects with balanced translocations and supportive comparative deletion mapping of PSS subjects, we have uncovered evidence that t…
Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia
2009
Background: Hereditary spastic paraplegias (HSP) are clinically and genetically highly heterogeneous. Recently, two novel genes, SPG11 ( spatacsin ) and SPG15 ( spastizin ), associated with autosomal recessive HSP, were identified. Clinically, both are characterised by complicated HSP and a rather similar phenotype consisting of early onset spastic paraplegia, cognitive deficits, thin corpus callosum (TCC), peripheral neuropathy and mild cerebellar ataxia. Objective: To compare the frequency of SPG11 and SPG15 in patients with early onset complicated HSP and to further characterise the phenotype of SPG11 and SPG15. Results: A sample of 36 index patients with early onset complicated HSP and …
An integrated model of condom use in Sub-Saharan African youth: A meta-analysis.
2017
Objective: We tested an integrated social–cognitive model derived from multiple theories of the determinants of young people's condom use in Sub-Saharan Africa. The model comprised seven social–cognitive antecedents of condom use: Attitudes, norms, control, risk perceptions, barriers, intentions, and previous condom use. Method: We conducted a systematic search of studies including effects between at least one model construct and intended or actual condom use in young people from sub-Saharan African countries. Fifty-five studies comprising 72 independent data sets were included and subjected to random-effects meta-analysis. Demographic and methodological variables were coded as moderators. …
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…
An exploration of anger phenomenology in multiple sclerosis
2009
Multiple sclerosis (MS) patients are often emotionally disturbed. We investigated anger in these patients in relation to demographic, clinical, and mood characteristics.About 195 cognitively unimpaired MS patients (150 relapsing-remitting and 45 progressive) were evaluated with the State Trait Anger Expression Inventory, the Chicago Multiscale Depression Inventory, and the State Trait Anxiety Inventory. The patients' anger score distribution was compared with that of the normal Italian population. Correlation coefficients among scale scores were calculated and mean anger scores were compared across different groups of patients by analysis of variance.Of the five different aspects of anger, …