Search results for "Abilities"
showing 10 items of 538 documents
NF1 microdeletion syndrome: case report of two new patients
2019
Abstract Background 17q11.2 microdeletions, which include the neurofibromatosis type 1 (NF1) gene region, are responsible for the NF1 microdeletion syndrome, observed in 4.2% of all NF1 patients. Large deletions of the NF1 gene and its flanking regions are associated with a more severe NF1 phenotype than the NF1 general population. Case presentation We hereby describe the clinical and molecular features of two girls (aged 2 and 4 years, respectively), with non-mosaic atypical deletions. Patient 1 showed fifteen café-au-lait spots and axillary freckling, as well as a Lisch nodule in the left eye, strabismus, high-arched palate, malocclusion, severe kyphoscoliosis, bilateral calcaneovalgus fo…
7q31.32 partial duplication: First report of a child with dysmorphism, autistic spectrum disorder, moderate intellectual disability and, epilepsy. Li…
2019
Abstract Introduction Duplication of long arm of chromosome 7(q) is uncommon. It may occur as “pure”, isolated anomaly or in association with other mutations involving the same or other chromosomes. “Pure” chromosome 7q duplication has recently been classified by segment involved: the interstitial, proximal, or distal segment of the arm. Attempts to correlate genotype with phenotype in each group has yielded questionable results even though intellective disability and minor dysmorphic features of variable types are typically seen. Material and Methods In a young boy showing minor facial dysmorphism, language delay, autistic spectrum disorder, epileptic seizures, behavioral disturbances and …
Collective Cell Migration in a Fibrous Environment: A Hybrid Multiscale Modelling Approach
2021
International audience; The specific structure of the extracellular matrix (ECM), and in particular the density and orientation of collagen fibres, plays an important role in the evolution of solid cancers. While many experimental studies discussed the role of ECM in individual and collective cell migration, there are still unanswered questions about the impact of nonlocal cell sensing of other cells on the overall shape of tumour aggregation and its migration type. There are also unanswered questions about the migration and spread of tumour that arises at the boundary between different tissues with different collagen fibre orientations. To address these questions, in this study we develop …
Fractional hereditariness of lipid membranes: Instabilities and linearized evolution
2016
In this work lipid ordering phase changes arising in planar membrane bilayers is investigated both accounting for elas- ticity alone and for effective viscoelastic response of such assemblies. The mechanical response of such membranes is studied by minimizing the Gibbs free energy which penalizes perturbations of the changes of areal stretch and their gradients only [1]. As material instabilities arise whenever areal stretches characterizing homogeneous configurations lie inside the spinoidal zone of the free energy density, bifurcations from such configurations are shown to occur as oscillatory perturbations of the in-plane displacement. Experimental observations [2] show a power-law in-pl…
Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors
2020
International audience; Purpose: Cohen syndrome (CS) is a rare genetic disorder caused by variants of the VPS13B gene. CS patients are affected with a severe form of retinal dystrophy, and in several cases cataracts also develop. The purpose of this study was to investigate the mechanisms and risk factors for cataract in CS, as well as to report on cataract surgeries in CS patients.Methods: To understand how VPS13B is associated with visual impairments in CS, we generated the Vps13b∆Ex3/∆Ex3 mouse model. Mice from 1 to 3 months of age were followed by ophthalmoscopy and slit-lamp examinations. Phenotypes were investigated by histology, immunohistochemistry, and western blot. Literature anal…
La inclusión laboral de las personas con discapacidad desde la administración pública responsable en la Comunidad Valenciana
2020
En la presente coyuntura socioeconómica, la posibilidad de inclusión a través del empleo de las personas con discapacidad es importante no solo por las posibilidades de autonomía económica, sino también por las oportunidades de socialización. Sobre esta base, y considerando que las empresas socialmente responsables asumen la inclusión de estas personas en sus plantillas como una posibilidad de crecimiento y de diferenciación, en el texto se analiza, de manera descriptiva, el papel que las administraciones públicas (AA. PP.) autonómicas, con competencias en la materia, pueden, deben y están haciendo para fomentar la responsabilidad social corporativa (RSC) y la gestión de la inclusión labora…
Do typically and atypically developing children learn and generalize novel names similarly: The role of conceptual distance during learning and at te…
2020
International audience; There is a large body of evidence showing that comparison of multiple stimuli leads to better conceptualization and generalization of novel names than no-comparison settings in typically developing (TD) children. By contrast, the evidence regarding this issue remains scarce in children with intellectual disabilities (ID). Children with intellectual disabilities (ID) and TD children matched on mental age with the Raven's coloured progressive matrices were tested in several novel name learning comparison conditions, with familiar objects. We manipulated the conceptual distance between the learning stimuli in the learning phase and between the learning and generalizatio…
Ensuring Diverse User Experiences and Accessibility While Developing the TeSLA e-Assessment System
2019
The TeSLA project, with its new, innovative approaches for e-assessment, offers a great possibility for increasing the educational equality and making higher education studies available for all. It has been estimated that 10–15% of students in higher education institutions have some disabilities or special educational needs. At online universities or in online programmes, the number is even higher. These numbers emphasise the importance of the universal design for learning as a leading principle while developing the digital learning environments and e-assessment procedures. In this chapter, we describe the key elements of ensuring the accessibility of the TeSLA e-assessment system during th…
Acceptability of the e-authentication in higher education studies: views of students with special educational needs and disabilities
2021
AbstractTrust-based e-assessment systems are increasingly important in the digital age for both academic institutions and students, including students with special educational needs and disabilities (SEND). Recent literature indicates a growing number of studies about e-authentication and authorship verification for quality assurance with more flexible modes of assessment. Yet understanding the acceptability of e-authentication systems among SEND students is underexplored. This study examines SEND students’ views about the use of e-authentication systems, including perceived advantages and disadvantages of new technology-enhanced assessment. This study aims to shed light on this area by exa…
Developing E-Authentication for E-Assessment : Diversity of Students Testing the System in Higher Education
2020
Sähköinen tunnistautuminen on yksi keskeisistä teemoista verkko-opetuksessa, -opiskelussa ja - arvioinnissa. Tämän tutkimuksen tarkoituksena oli tutkia opiskeluunsa erityistä tukea tarvitsevien yliopisto-opiskelijoiden käyttökokemuksia kehitteillä olevasta sähköisestä tunnistautumisjärjestelmästä. Erityistä huomiota kehittämistyössä kiinnitettiin tunnistautumisen saavutettavuuteen. Kaikkiaan 15 opiskelijaa testasi TeSLA-projektin osana kehitettyä tunnistautumisjärjestelmää, johon kuului kasvojentunnistus, äänentunnistus, näppäilyntunnistus, tekstityylianalyysi ja plagioinnin tunnistus. Opiskelijat täyttivät esi- ja jälkikyselylomakkeet sekä osallistuivat henkilökohtaisiin haastatteluihin. T…