Search results for " Disability"
showing 10 items of 673 documents
Análisis de una intervención educativa para el desarrollo de la autodeterminación en una alumna con síndrome de Down
2021
Resumen Antecedentes: uno de los mayores problemas a los que se enfrentan los jóvenes con discapacidad intelectual es su bajo nivel de autonomía. Objetivo: el objetivo de este trabajo es analizar la eficacia de una intervención basada en el uso de las tecnologías de la información y comunicación (TIC) para alcanzar mejoras en autodeterminación en una estudiante con síndrome de Down. Método: la intervención está basada en el diseño y aplicación de una página web diseñada teniendo en cuenta las necesidades específicas de la participante, su nivel de competencias, y sus intereses. Esta herramienta TIC permite a la estudiante trabajar de manera autónoma tres áreas de conocimiento distintas y ot…
Predicting hospital associated disability from imbalanced data using supervised learning.
2019
Hospitalization of elderly patients can lead to serious adverse effects on their functional capability. Identifying the underlying factors leading to such adverse effects is an active area of medical research. The purpose of the current paper is to show the potential of artificial intelligence in the form of machine learning to complement the existing medical research. This is accomplished by studying the outcome of hospitalization of elderly patients as a supervised learning task. A rich set of features characterizing the medical and social situation of elderly patients is leveraged and using confusion matrices, association rule mining, and two different classes of supervised learning algo…
A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever
2021
Aminoacyl-tRNA synthetases (aaRS) are ubiquitously expressed enzymes responsible for ligating amino acids to their cognate tRNA molecules through an aminoacylation reaction. The resulting aminoacyl-tRNA is delivered to ribosome elongation factors to participate in protein synthesis. Seryl-tRNA synthetase (SARS1) is one of the cytosolic aaRSs and catalyzes serine attachment to tRNASer . SARS1 deficiency has already been associated with moderate intellectual disability, ataxia, muscle weakness, and seizure in one family. We describe here a new clinical presentation including developmental delay, central deafness, cardiomyopathy, and metabolic decompensation during fever leading to death, in a…
Organizational performance focused on users' quality of life: The role of service climate and "contribution-to-others" wellbeing beliefs.
2017
The investigation of organizational factors as precursors of the quality of life (QoL) of service users in organizations for individuals with intellectual disability has been relatively neglected.With this in mind, this study tests the mediation of service climate between employee's "contribution-to-others" wellbeing beliefs (COWBs) and organizational performance focused on the QoL of individuals with intellectual disability. A total of 104 organizations participated in the study. Data were collected from 885 employees and 809 family members of individuals with intellectual disability. The results of the multilevel mediation model supported the hypotheses. When employees believe that their …
Common variance in amplitude envelope perception tasks and their impact on phoneme duration perception and reading and spelling in Finnish children w…
2009
ABSTRACTOur goal was to investigate auditory and speech perception abilities of children with and without reading disability (RD) and associations between auditory, speech perception, reading, and spelling skills. Participants were 9-year-old, Finnish-speaking children with RD (N = 30) and typically reading children (N = 30). Results showed significant group differences between the groups in phoneme duration discrimination but not in perception of amplitude modulation and rise time. Correlations among rise time discrimination, phoneme duration, and spelling accuracy were found for children with RD. Those children with poor rise time discrimination were also poor in phoneme duration discrimi…
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder
2022
De novo variants in QRICH1 (Glutamine-rich protein 1) has recently been reported in 11 individuals with intellectual disability. The function of QRICH1 is largely unknown but it is likely to play a key role in the unfolded response of endoplasmic reticulum (ER) stress through transcriptional control of proteostasis. In this study, we present 27 additional individuals and delineate the clinical and molecular spectrum of the individuals (n=38) with QRICH1 variants. The main clinical features were mild to moderate developmental delay/intellectual disability (71%), non-specific facial dysmorphism (92%) and hypotonia (39%). Additional findings included poor weight gain (29%), short stature (29%)…
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…
Representation of ASD in mass media: analysis of a generalist newspaper
2020
Los medios de comunicación influyen notablemente en sus consumidores, por lo que no son meros informadores, sino que también son creadores de opinión. Este hecho es relevante para el ámbito de la inclusión, en tanto que las necesidades específicas de apoyo educativo son también un tema tratado por los medios de comunicación. En el presente estudio se analizan los artículos que abordan la temática relacionada con el Trastorno del Espectro Autista (TEA) en el diario El País durante el año 2017. Los resultados del análisis de contenido de los artículos indican que el TEA fue un tema de interés en el año 2017. Los contenidos más recurrentes fueron las causas del TEA, frecuentemente desmintiendo…
Behavioral phenotype and autism spectrum disorders in Cornelia de Lange syndrome
2015
Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by distinctive facial features, growth retardation, limb abnormalities, intellectual disability, and behavioral problems. Cornelia de Lange syndrome is associated with abnormalities on chromosomes 5, 10 and X. Heterozygous point mutations in three genes (<em>NIPBL</em>, <em>SMC3</em> and <em>SMC1A</em>), are responsible for approximately 50-60% of CdLS cases. CdLS is characterized by autistic features, notably excessive repetitive behaviors and expressive language deficits. The prevalence of autism spectrum disorder (ASD) symptomatology is comparatively high in CdLS. However, the pro…
Array CGH defined interstitial deletion on chromosome 14: a new case
2009
Interstitial deletions of the long arm of chromosome 14 are relatively rare. We report a 8.5-year-old girl with dysmorphic facial features and mental retardation associated with a de novo interstitial deletion of chromosome 14. The comparison between our patient and all published patients is reviewed. The genetic investigations have allowed us to define the critical chromosomal region and to start an accurate follow-up.