Browsing by Subject "Rare diseases"

Now showing 1 - 3 of 3
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    Análisis de las necesidades de información que presentan los docentes respecto a la atención educativa del alumnado con enfermedades raras
    (Universidad de Murcia, 2019) Alfaro Consuegra, Alma; Negre Bennasar, Francisca
    El objetivo de esta investigación es conocer cuáles son las necesidades de información que presentan los docentes de las Islas Baleares respecto a la atención educativa del alumnado con enfermedades raras. La investigación ha sido de corte cuantitativo, basada en un cuestionario. Se analizan los resultados comparándolos con datos obtenidos mediante revisiones bibliográficas sobre este tema, proponiendo posibles soluciones que cubran las necesidades identificadas. Como conclusión, se observa que el propio profesorado percibe que tiene diversas necesidades de información respecto a las enfermedades raras y, considerando que los propios docentes piensan que las Tecnologías de la Información y la Comunicación tienen un gran potencial como herramienta de difusión de información, se procederá a diseñar e implementar una campaña de sensibilización mediante recursos tecnológicos con el objetivo de informar a los docentes sobre la problemática que presentan los niños con alguna enfermedad rara.
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    Perfil neuropsicológico y del lenguaje de las personas con síndrome de Arboleda-Tham: Revisión de alcance
    (Elsevier, 2026) Peñalver García, Dolores María; Bermejo Alegría, Rosa María; Cabello Luque, Francisco; Métodos de Investigación y Diagnóstico en Educación
    Arboleda-Tham syndrome (KAT6A) is a rare genetic condition associated with neurodevelopmental disorders. Given the limited characterization of its neurocognitive and communicative profile, this study aimed to synthesize the available scientific evidence on this topic and identify gaps in the literature. A scoping review was conducted, and seven studies were included. The findings revealed intellectual disability, global developmental delay, and severe communicative impairment. Verbal apraxia/dyspraxia was frequently present. The studies predominantly presented used single-case or cross-sectional designs and variable reporting quality, highlighting a lack of information on the psychometric properties of the tests used. KAT6A syndrome presents a heterogeneous neuropsychological and communicative profile, with language impairment. Current evidence is limited and comes mainly from descriptive studies with small samples. Future research with longitudinal designs and multidisciplinary assessments is needed to further characterize the profile and support specific interventions
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    Performance assessment of ontology matching systems for FAIR data
    (2022-07-15) Van Damme, P.; Fernandez-Breis, J. T.; Benis, N.; Miñarro Giménez, José Antonio; De Keizer, N.; Cornet, R.; Informática y Sistemas
    Background: Ontology matching should contribute to the interoperability aspect of FAIR data (Findable, Accessible, Interoperable, and Reusable). Multiple data sources can use different ontologies for annotating their data and, thus, creating the need for dynamic ontology matching services. In this experimental study, we assessed the performance of ontology matching systems in the context of a real-life application from the rare disease domain. Additionally, we present a method for analyzing top-level classes to improve precision. Results: We included three ontologies (NCIt, SNOMED CT, ORDO) and three matching systems (AgreementMakerLight 2.0, FCA-Map, LogMap 2.0). We evaluated the performance of the matching systems against reference alignments from BioPortal and the Unified Medical Language System Metathesaurus (UMLS). Then, we analyzed the top-level ancestors of matched classes, to detect incorrect mappings without consulting a reference alignment. To detect such incorrect mappings, we manually matched semantically equivalent top-level classes of ontology pairs. AgreementMakerLight 2.0, FCA-Map, and LogMap 2.0 had F1-scores of 0.55, 0.46, 0.55 for BioPortal and 0.66, 0.53, 0.58 for the UMLS respectively. Using vote-based consensus alignments increased performance across the board. Evaluation with manually created top-level hierarchy mappings revealed that on average 90% of the mappings’ classes belonged to top-level classes that matched. Conclusions: Our findings show that the included ontology matching systems automatically produced mappings that were modestly accurate according to our evaluation. The hierarchical analysis of mappings seems promising when no reference alignments are available. All in all, the systems show potential to be implemented as part of an ontology matching service for querying FAIR data. Future research should focus on developing methods for the evaluation of mappings used in such mapping services, leading to their implementation in a FAIR data ecosystem.