Maite Fernandez-Urquiza- PhD Linguistics
- Lecturer at University of Oviedo
Maite Fernandez-Urquiza
- PhD Linguistics
- Lecturer at University of Oviedo
About
66
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Introduction
Lecturer and researcher on Clinical Linguistics at the University of Oviedo since 2008, where she teaches Applied Linguistics and Linguistic Analysis of Language Disorders in the Degree in Speech, Language & Hearing Disorders at the School of Psychological Sciences. She is attached to the Faculty of Philosophy and Arts, where she teaches General Linguistics as well as Pragmatics and Discourse in several Degrees.
Current institution
Additional affiliations
January 2008 - March 2022
Publications
Publications (66)
The aim of this paper is to describe a version of the CHAT transcription format developed with the purpose of enabling open-access to the PerLA corpus of language pathologies through the Talkbank International Database. In doing so, adapting PerLA to a transcription and coding format compatible with CLAN software for automatic language analysis was...
Era evidente la falta un libro que diera cuenta de la neurobiología de los procesos mentales normales. Particularmente como apoyo al aprendizaje clínico de los estudiantes avanzados y los profesionales en ejercicio de las diversas carreras y especialidades profesionales que tienen que ver con el cerebro y la mente.
El componente discursivo suele verse particularmente afectado en los hablantes LHD. Las escasas investigaciones que hasta la fecha han prestado atención a la conversación se basan en pruebas muy alejadas de la interacción comunicativa real y se realizan en entornos
clínicamente marcados, lo que las hace sospechosas de arrojar evaluaciones hasta cie...
Down syndrome (DS) and Williams syndrome (WS) are genetic neurodevelopmental disorders associated with intellectual disability, showing contrasting linguistic profiles with asymmetries in grammatical (DS weakness/WS strength) vs. pragmatic abilities (DS strength/WS weakness). The aim of the present study was to explore the linguistic profiles of 14...
El objetivo de este capítulo es proponer un protocolo básico para la detección y caracterización de los problemas de lenguaje en las enfermedades raras,
la formulación de hipótesis básicas acerca de las causas moleculares de dichos
déficits, y una intervención logopédica (y también psicopedagógica) eficaz, destinada a mejorar las habilidades comuni...
Purpose
Chromosome 16p11.2 deletion syndrome (OMIM #611913) is a rare genetic condition resulting from the partial deletion of approximately 35 genes located at Chromosome 16. Affected people exhibit a variable clinical profile, featuring mild dysmorphisms, motor problems, developmental delay, mild intellectual disability (ID), socialization defici...
Introduction:
Copy-number variations (CNVs) impacting on small DNA stretches and associated with language deficits provide a unique window to the role played by specific genes in language function.
Methods:
We report in detail on the cognitive, language, and genetic features of a girl bearing a small deletion (0.186 Mb) in the 2p16.3 region, arr...
Linguistic phenotypes of individuals with Fragile X (FXS) and Williams (WS) syndromes exhibit various degrees of pragmatic impairment, involving difficulties in social communication and in adapting to conversational principles. The goal of the present study was to explore syndrome-specific pragmatic profiles of adults with FXS and WS based on the a...
Chromosome 16p11.2 Deletion Syndrome (OMIM #611913) is a rare genetic condition resulting from the partial deletion of approximately 25 genes at chromosome 16. Affected people exhibit a variable clinical profile, featuring developmental and language delay, mild intellectual disability (ID), motor problems, social deficits and some autism spectrum d...
Copy-number variations (CNVs) impacting on small DNA stretches and that are associated to language deficits provide a unique window to the role played by specific genes in language function. We report in detail on the cognitive and language features of a girl bearing a small deletion (0,186 Mb) in the 2p16.3 region (arr[hg19] 2p16.3(50761778-509477...
The study of neurodevelopmental genetic disorders reveals an atypical epigenesis (Karmiloff-Smith, 2007), showing specific developmental profiles for the different components of language, which present points of relative strength and weakness. Down syndrome (DS) has been characterized by a significant impairment of grammatical development, while in...
El Síndrome X Frágil (SXF) es un trastorno genético del neurodesarrollo cuyo fenotipo lingüístico se ha definido ampliamente en los últimos años y donde la pragmática se presenta como un área de relativa debilidad, observándose dificultades de comunicación y participación social en todas las etapas del desarrollo. Dichas dificultades pragmáticas y...
Duplications of the distal region of the short arm of chromosome 9 are rare, but are associated with learning disabilities and behavioral disturbances. We report in detail the cognitive and language features of a child with a duplication in the 9p24.3 region, arr[hg19] 9p24.3(266,045–459,076)×3. The proband exhibits marked expressive and receptive...
Chromosomopathies consist of duplications or deletions of chro- mosomal fragments that usually pro- duce language impairment. However, accurate descriptions of structural and functional linguistic deficits caused by chromosomopaties are not yet available due to the low prevalence of these alter- ations. Our aim in this paper is to put forward a pra...
Deletions and duplications of the distal region of the long arm of chromosome 1 are associated with brain abnormalities and developmental delay. Because duplications are less frequent than deletions, no detailed account of the cognitive profile of the affected people is available, particularly, regarding their language (dis)abilities. In this paper...
Copy-number variations of the distal region of the short arm of chromosome 9 are associated with learning disabilities and behavioral disturbances. Deletions of the 9p are more frequent than duplications. We report in detail on the cognitive and language features of a child with a duplication in the 9p24.3 region (arr[hg19] 9p24.3(266,045-459,076)x...
Deletions and duplications of the distal region of the long arm of chromosome 1 are associated with brain abnormalities and developmental delay. Because duplications are less frequent than deletions, no detailed account of the cognitive profile of the affected people is available, particularly, regarding their language (dis)abilities. In this paper...
low prevalence chromosomopathies; language impairment
Williams Syndrome narratives tend to display atypically frequent uses of evaluative language. The aim of the present study is to determine the narrative language profiles of a group of 12 WS participants. We video-recorded their oral recounts of a wordless animated video and compared them to those of typically developing children matched for verbal...
In this paper, we argue for a bimodal communication approach to the
language deficits found in children with low prevalent chromosomopathies. We
start with a detailed examination of the subject's clinical history. Afterward, we
evaluate their language skills and cognitive abilities using standard diagnostic tests
and natural speech samples. Bimodal...
Las cromosomopatías consisten en duplicaciones o deleciones de fragmentos cromosómicos de tamaño variable que suelen conllevar alteraciones del lenguaje. Debido a su baja prevalencia, no se dispone aún de descripciones precisas del déficit lingüístico que llevan asociado, a lo que se suma la ausencia total de caracterización funcional del lenguaje...
In this poster we will show the language and cognitive profile of a patient with a microduplication in 1q42.3q43 (arr[hg19] 1q42.3q43 (235,963,632-236,972,276)x3). Language and cognitive abilities are severely delayed in our proband, according to standard diagnostic tests (Peabody Picture Vocabulary Test, Illinois Test of Psycholinguistic Abilities...
La investigación de la correlación genotipo-fenotipo en los síndromes genéticos neuroevolutivos ha adquirido una relevancia creciente en las últimas décadas. Desde una perspectiva básica, se trata de conocer mejor las complejas relaciones entre genes, cerebro y conducta. Desde una perspectiva aplicada, el objetivo es evaluar las trayectorias especí...
In this poster we will show the language and cognitive profile of a patient with a microdeletion in 8p23.1 (arr[hg19] 8p23.1 (7169490-7752586) and a microduplication in 9p24.3 (arr[hg19] 9p24.3 (266045-459076). The child exhibits a significant language delay which impacts mostly on the expressive domain. Specifically, he experiences marked difficul...
Las variaciones en el número de copia (CNV) consisten en duplicaciones o deleciones de fragmentos cromosómicos de tamaño variable que suelen conllevar alteraciones del lenguaje y/o cognitivas. Su prevalencia suele ser muy baja, lo que dificulta un tratamiento adecuado de los pacientes. Para empezar, si bien se conocen los genes implicados, la etiol...
La investigación de la correlación genotipo-fenotipo en los síndromes genéticos neuroevolutivos ha adquirido una relevancia creciente en las últimas décadas. Desde una perspectiva básica, se trata de conocer mejor las complejas relaciones entre genes, cerebro y conducta. Desde una perspectiva aplicada, el objetivo es evaluar las trayectorias especí...
La evaluación clínica del lenguaje, tanto en población infantil como adulta, se ha realizado tradicionalmente por medio de baterías de test estandarizadas que no permiten valorar la competencia comunicativa del hablante. Hasta hace bien poco, ha sido llamativa la ausencia de instrumentos para la evaluación de la pragmática en población española ado...
The chromosome 1q21.1 duplication syndrome (OMIM# 612475) is characterized by head anomalies, mild facial dysmorphisms, and cognitive problems, including autistic features, mental retardation, developmental delay, and learning disabilities. Speech and language development are sometimes impaired, but no detailed characterization of language problems...
The whole set of genes important for language used for the in silico analysis with String 10.5.
Gene expression levels in the proband and his parents in selected genes of interest.
List of primers used for qRT-PCR analyses.
Narrative skills play a crucial role in organizing experience, facilitating social interaction and building academic discourse and literacy. They are at the interface of cognitive, social, and linguistic abilities related to school engagement. Despite their relative strengths in social and grammatical skills, students with Williams syndrome (WS) do...
El objetivo de este trabajo es presentar el instrumento de etiquetado pragmático PREP-CORP, adaptado por el Grupo de Investigacion LOGIN de la Universidad de Oviedo a partir del Protocolo Rápido de Evaluación Pragmática Revisado (PREP-R) (Fernández-Urquiza et al. 2015a). A su vez, el PREP-R es una adaptacion del PREP (Gallardo Pauls 2009). Ambos in...
The study of morphological errors observed in neurodevelopmental disorders has often been a source of empirical evidence for contrasting accounts of language acquisition (i.e. modular vs. neuroconstructivist). Conflicting findings may be related to the wide range of methodologies adopted, and to the fact that a significant number of studies have fo...
The linguistic profile of Williams syndrome was first characterized as a relative strength in a context of intellectual disability. Comparisons with Down syndrome showed fractionated and contrasting linguistic profiles: pragmatic abilities were below expectations in WS, and above expectations in DS, both compared to grammatical abilities. Research...
Williams syndrome (WS) is a neurodevelopmental genetic disorder characterized by displaying language skills higher than expected in the context of a mild to moderate level of intellectual disability. Despite a certain degree of heterogeneity, WS is always associated with initial developmental language delay, but on reaching school age, the linguist...
La ponencia contribuirá a la discusión planteada en la mesa redonda exponiendo los retos metodológicos y teóricos a que se enfrenta el grupo LOGIN (Logopedia y Lenguaje Infantil) en su estudio del déficit lingüístico de tres poblaciones clínicas con síndromes genéticos neuroevolutivos (síndrome de Williams, síndrome de Down, y síndrome de X-Frágil)...
Dibujar el panorama del estado actual de un campo de conocimiento requiere, al menos, unos brevísimos apuntes acerca de cómo ha evolucionado a lo largo del tiempo. En este trabajo realizaremos un recorrido selectivoa través de los hitos fundacionales de la Lingüística Clínica (LC), con el objetivo de poner de manifiesto el modo en que su trayectori...
El objetivo fundamental de todo logopeda es rehabilitar la eficacia comunicativa y las habilidades interaccionales del hablante con lenguaje disfuncional. En efecto, el déficit lingüístico se manifiesta siempre e inevitablemente en el uso y, por tanto, su análisis requiere un abordaje de tipo pragmático. En este sentido, la Lingüística Clínica Func...
Objetivos:
1. Identificar, en los usos del lenguaje evaluativo, los rasgos típicos y atípicos de las personas con Síndrome de Williams.
2. ¿Qué tipo de expresiones evaluativas y evidenciales utilizan los SW y cómo se comparan con los niños de desarrollo típico?
3. ¿Cómo se construye la historia, combinando voces de personajes y del narrador en los...
Objetivos: 1. Construir el perfil pragmático textual (subnivel de coherencia narrativa) de un grupo de sujetos con síndrome de Down (SD). 2. Compararlo con el perfil correspondiente de un grupo de sujetos con desarrollo típico (DT) igualados en edad verbal (MLU). 3. Determinar si la pragmática textual de los sujetos con SD presenta un perfil típico...
El objetivo de este trabajo es presentar el instrumento de etiquetado pragmático PREP-CORP, adaptado por el Grupo de Investigación LOGIN de la Universidad de Oviedo a partir del Protocolo Rápido de Evaluación Pragmática Revisado (PREP-R) (Fernández-Urquiza et al., 2015). A su vez, el PREP-R es una adaptación del PREP (Gallardo Paúls, 2009). Ambos i...
The literature on right hemisphere damaged (RHD) speakers describes their narrative discourse as being less informative, even if the number of words is similar or superior to controls. However, very few studies address the need of binding together the quantification of grammatical categories and the qualitative analysis of discourse-pragmatic categ...
Perfiles comparados del nivel de Pragmática Enunciativa (subnivel de inferencias) sobre una muestra de 6 sujetos con síndrome de X-Frágil, 6 sujetos con síndrome de Williams, 6 sujetos con síndrome de Down, y 12 sujetos con desarrollo típico, igualados en edad verbal. La transcripción y análisis de los datos se realizó con las herramientas del proy...
PREP-R Scoreboard.
PREP- R is an instrument devised to assess the pragmatic efficacy of speakers with linguistic impairment during spontaneous conversation with the purpose of identifying, in a time efficient manner, whether the nature of their impairment is predominantly grammatical (what we call a grammar-based pragmatic deficit) or related to more general cognitiv...
This paper introduces a framework for the labelling of pragmatic
categories within impaired oral language samples. The labels have been
developed as part of the adaptation of PerLA corpus to the CHAT
transcription system, in order to integrate the corpus into the international
database CHILDES/TALKBANK. Firstly, we describe the metadata format.
Sec...
hoja de evaluación del protocolo maquetada para imprimir
“The Syndroling Project” (TSP) is attempting to establish linguistic profiles of typical development at the phonological, morphosyntactic, and pragmatic levels from a corpus of 60 typically developing children. Typical development profiles are then compared with the profiles obtained from corpora of three neurodevelopmental syndromes: Down syndrome...
Immanent linguistic analysis do not allow us to explain successfully the nature of the meaning brought by brand names when they behave as predicates from the point of view of their Combinatorial Semantics. Following Lamb (1999), we account for such phenomena by adopting an interdisciplinary approach and assuming three methodological requirements: 1...
La investigación tiene como objetivo cuantificar el “éxito transaccional” (Simmons-Mackie & Damico 1995) de hablantes con afasia de Broca en tareas de narración de historias en el marco de la conversación con su interlocutor clave. Se trata de cuantificar el éxito en la transmisión de información a pesar de los déficits que pueden afectar a los asp...
La bibliografía señala las dificultades que los hablantes lesionados de hemisferio derecho manifiestan para realizar contribuciones conversacionales pragmáticamente adecuadas, debido al carácter excesivo e irrelevante de sus aportaciones y a la incapacidad para controlar la progresión y la coherencia del tema durante el intercambio (Sabbagh, 1999;...
Infomation and Communication Technologies in education have transformed the traditional school in digital classrooms. It is necessary to reflect about the learning model triggered by these technologies and also about the need of adjusting the educative offer to the student’s ways of receiving information, linking teaching contents to their learning...
The aim of this paper is to present an elementary communicative protocol oriented to key conversational partners (Gallardo, 2005), i.e. family members who regularly communicate with people with linguistic impairment. During the data collection process for the development of PerLA corpus (Gallardo y Sanmartín, 2005; Gallardo y Moreno, 2005; Garayzáb...
In the current scientific context, linguistic theories should try to accomplish at least three requirements: 1) operational plausibility, 2) psychological plausibility, and finally 3) neurological plausibility. This paper offers an interdisciplinary approach to the dynamicist paradigm of lexical meaning. Its aim is to show the coherence of this the...
