Search results for "Sab"
showing 10 items of 3756 documents
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…
Are student nurses ready for new technologies in mental health? Mixed-methods study
2020
Abstract Background Technical innovations such as ecological momentary assessment (EMA), machine learning (ML), computerized adaptive testing (CAT), Digital Phenotyping, Clinical Decision Support Systems (CDSS), Algorithms, and Biomarkers have caused a paradigm shift in psychiatric care. The aim of the present study was to explore how student nurses view this paradigm shift, by assessing the acceptability of smartphone-based EMA, CAT, and biosensor-based Digital Phenotyping. We also investigated the factors affecting this acceptability. Method Student nurses recruited via nursing schools participated in a quantitative study involving the screenplay method, in which they were exposed to two …
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 …
The picture superiority effect in associative memory: A developmental study.
2018
We tested whether semantic relatedness between to-be-remembered items and item presentation format (pictorial vs. verbal) affects associative recall. Fifty-nine children (11-13 years old) and forty young adults (age 18-30) completed a learning and recall task for semantically related (e.g., padlock-key) and unrelated (e.g., lemon-piano) picture-picture, word-picture, and word-word pairs. The data revealed memory advantage for semantically related item pairs, and for pictures compared to words. A picture superiority effect was found exclusively for pure picture pairs. Despite pronounced differences in memory accuracy, the effect of semantic relatedness and the picture superiority effect were…
Predicting physical activity in university students with disabilities: The role of social ecological barriers in the theory of planned behaviour
2018
Abstract Background Even though university students with disabilities are less active than their peers without disabilities, there is scarce knowledge on the predictors of physical activity (PA) in this population. Objectives To predict PA in Spanish university students with disabilities using the Theory of Planned Behaviour (TPB) and to examine the role of social ecological barriers within this theoretical framework. Methods Participants (N = 1079; Mean age = 40.12) for this cross-sectional study were recruited through the disability care services of 55 Spanish universities. The TPB constructs were assessed using a questionnaire. The Spanish short form of the International Physical Activit…
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, …
Influence of oral health on mucositis in patients undergoing hematopoietic progenitor cell transplantation (HPCT).
2010
Aims: To establish whether or not the state of patient oral health can influence the occurrence and/or severity of oral mucositis during hematopoietic progenitor cell transplantation (HPCT). Materials and Methods: The study included 72 patients awaiting HPCT. Prior to transplantation, clinical exploration and radiology were carried out and oral photographs were taken. This evaluated the extent of caries present, the number of missing teeth and the number of dental fillings in each patient; CAO (Caries and Obturations Index) DMFS (Decayed, Missing, and Filled Surfaces) and Restoration Indices were calculated. Gingival pathology was also examined by means of the Ainamo and Bay Gingival Bleedi…