scholarly journals VARIABILIDAD DEL PERFIL COGNITIVO EN ESCOLARES Y ADULTOS CON SÍNDROME DE DOWN

Author(s):  
Javier García Alba ◽  
Justo Fernando Ramos Alla ◽  
Mª Eugenia Martín Palacios

Abstract:VARIABILITY COGNITIVE PROFILE IN CHILDREN AND ADULTS WITH DOWN SYNDROME. A NEUROPSYCHOLOGICAL STUDYIntroduction: Down syndrome (DS) is a chromosomal disorder that has a specific and highly complex cognitive and behavioral phenotype. Objectives: To study the degree of variability cognitvo profile through neuropsychological diagnostic tests into two distinct developmental ages : aulta school age and older . Participants and Methods: 105 subjects aged child and adult , 43 with and 62 without SD SD were studied. Neuropsychological variables were assessed . Comparative study of different neuropsychological variables between SD and comparison groups was performed , and between groups of children and adults. Results: Children and adult SD neuropsychological performance groups had significantly (p < 0.05) lower than the control groups . 84% of the neuropsychological variables studied in child SD group showed a significant degree of variability ( p < 0.05 ) in the SD group showed adult 44% of the studied variables with a significant degree of variability. Conclusions: The neuropsychological performance in all cognitive deficit in study areas with different levels of representation according to cognitive function, and with a high degree of cognitive variability, especially in childhood.Keywords: Down syndrome , neuropsychology , cognitive variability , intellectual disability, childhood , adulthood.Resumen:Introducción: El síndrome de Down (SD) es una alteración cromosómica que presenta un fenotipo cognitivo y conductual específico y de una gran complejidad. Objetivos: estudiar el grado de variabilidad del perfil cognitvo a través de pruebas de diagnóstico neuropsicológico en dos edades claramente diferenciadas del desarrollo: edad escolar y edad aulta. Participantes y métodos: Se estudiaron 105 sujetos de edad infantil y adulta, 43 con SD y 62 sin SD. Se valoraron variables neuropsicológicas. Se realizó estudio comparativo de las diferentes variables neuropsicológicas entre los grupos SD y comparación, y entre los grupos infantiles y adultos. Resultados: Los grupos SD infantil y adulto presentaron un rendimiento neuropsicológico significativamente (p<0.05) más bajo que los grupos control. El 84% de las variables neuropsicológicas estudiadas en el grupo SD infantil mostraron un significativo grado de variabilidad (p<0.05), en el grupo SD adulto apareció un 44% de las variables estudiadas con un significativo grado de variabilidad. Conclusiones: El rendimiento neuropsicológico en deficitario en todas las áreas cognitivas estudiadas con diferente grado de representación según la función cognitiva, y con un alto grado de variabilidad cognitiva, especialmente en la edad infantil.Palabras clave: síndrome de Down, neuropsicología, variabilidad cognitiva, discapacidad intelectual, edad infantil, edad adulta.

Modern Italy ◽  
2000 ◽  
Vol 5 (2) ◽  
pp. 113-132 ◽  
Author(s):  
Stephen Gundle

SummaryThe problem of the legitimacy or otherwise of the Resistance tradition in post-war Italy has been addressed in recent years mainly in terms of the role of the partisan struggle and its political legacy. This article aims to assess the tradition in terms of commemorative practices, rituals, artistic representations and monuments. It seeks to evaluate whether the Resistance gave rise to a civic religion that may be compared to those which existed in the Liberal period, based on the heroic struggles and figures of the Risorgimento, and the Fascist period, which drew on the feelings of loss and injustice that followed the First World War. It is argued that, although the Resistance lacked, prior to the 1960s, a high degree of official sponsorship, it did acquire some of the features of a civic religion. Its appeal was mainly limited to the regions administered by the Left which had seen a significant degree of Resistance activity in 1943-5. Even here, however, it was difficult to sustain the tradition as a key feature of community life during and after the economic boom: the eclipse of public culture, the decline of public mourning and the development of commercial leisure and mass culture all served to deprive it of meaning. Although intellectuals, politicians and ex-partisans reacted to this situation, the visual and rhetorical languages associated with the commemoration of the Resistance became increasingly divorced from everyday life and dominant social values.


Blood ◽  
2021 ◽  
Vol 138 (Supplement 1) ◽  
pp. 2168-2168
Author(s):  
Jin Ye ◽  
Isabel A Calvo ◽  
Itziar Cenzano ◽  
Amaia Vilas-Zornoza ◽  
Xabier Martinez-de-Morentin ◽  
...  

Abstract Understanding the regulation of normal and malignant human hematopoiesis requires a comprehensive cell atlas of the hematopoietic stem cell (HSC) regulatory microenvironment. Recent studies using scRNA-seq technologies have shed light on the organization of the hematopoietic regulatory microenvironment in the mouse. These studies have resolved some of the controversies regarding the overlap of stromal populations, the description of certain discrete stromal cells as professional, hematopoietic cytokine-producing populations, but also helped to delineate the relationship between specific stromal cell types in the murine BM. Nevertheless, these studies are limited by the number of cells sequenced, potentially hampering our ability to resolve the full spectrum of cellular states and differentiation stages that define the stromal BM microenvironment. Further, knowledge on the conservation of the cellular composition in the human BM stroma is in its infancy due to the difficulty of obtaining high-quality samples with sufficient stromal cell numbers from healthy individuals. This leaves us with two outstanding challenges; how to piece together such different fragments towards a comprehensive molecular atlas and to what extent such an atlas in mice is conserved in the human bone marrow. Here, we dissect the intrinsic organization and the heterogeneity within the endothelial (EC) and mesenchymal cell populations (MSC) governing the BM microenvironment in mouse and human. This was accomplished through customized bioinformatics integration of multiple scRNA-seq datasets along with the inclusion of over 50.000 murine and human bone marrow stromal cells. By these means, we were able to identify new subsets of MSC and EC, but more importantly, to define new molecular markers to identify highly specialized subpopulations of cells in the murine BM microenvironment. Pathway enrichment analysis unveiled multiple, potentially transient cell states defined by differential gene expression and the enrichment of specific functional characteristics. Importantly, 14 EC subsets were characterized by enrichment in pathways known to be essential for endothelial homeostasis maintenance, demonstrating a high degree of specialization in the endothelium. Similarly, 11 transient cell states in the MSC compartment were defined and characterized by their differentiation capacity. Importantly, our deep deconvolution of the heterogeneous mesenchymal and endothelial compartments became feasible only by integrating multiple datasets. Furthermore, based on the knowledge generated in the mouse, we were able to describe how much of the information and targets from the mouse can be of interest in human characterization. This analysis identified the expression of the human orthologs to the murine cluster-defining genes with different degrees of enrichment in the endothelium and mesenchyme. Moreover, some of these shared genes in mice and human stromal cells corresponded to the GO-defining genes of the different clusters identified in the mouse. These findings suggest a significant degree of conservation regarding the cellular states that define the stromal microenvironment in mouse and human. Although additional studies and improved processing of human samples will be required for deep characterization of the human BM microenvironment, these preliminary results validate our integrative cross-species approach. Taken together, our study provides a deeper understanding of the composition and specialization of the BM microenvironment and point towards a significant degree of conservation between species. Moreover, we demonstrate the usefulness of the multi-dataset integration and the customized clustering approach used in our study to improve the resolution of complex tissues and organs. This approach promises to aid in the construction of cell atlases by reducing the resources associated with sequencing that a single lab will need to invest in order to obtain meaningful depth in single-cell analysis. Future studies integrating genome, transcriptome, epigenome, proteome, and anatomical positioning together with functional assays to correlate descriptive phenotypes with functional data will help fully resolve the composition, regulation, and connectivity in the BM microenvironment in health and disease. Figure 1 Figure 1. Disclosures Paiva: Adaptive, Amgen, Bristol-Myers Squibb-Celgene, Janssen, Kite Pharma, Sanofi and Takeda: Honoraria; Bristol-Myers Squibb-Celgene, Janssen, and Sanofi: Consultancy; Celgene, EngMab, Roche, Sanofi, Takeda: Research Funding. Saez: Magenta Therapeutics: Patents & Royalties. Prosper: BMS-Celgene: Honoraria, Research Funding; Janssen: Honoraria; Oryzon: Honoraria.


2018 ◽  
pp. 443
Author(s):  
Nina Crespo Allende ◽  
Alejandra Figueroa Leighton

El objetivo de este trabajo es describir el perfil narrativo tres grupos de niños que cursan kínder: con Discapacidad Intelectual (DI), con Trastorno Específico del Lenguaje (TEL) y con Desarrollo cognitivo y lingüístico Típico (DT). Las narraciones de los niños fueron transcritas y sus contenidos fueron evaluados por criterio con el Índice de Complejidad Narrativa Adaptado (Bustos & Crespo, 2014). Los resultados evidencian que todos los grupos elaboraron más que a otras categorías el intento o acción central del relato, indicando que para ellos narración es igual a acción. Sin embargo, hubo diferencia en los énfasis: mientras los niños de DT y TEL trabajaban más el esquema causal que rodea la acción (evento inicial y consecuencia), los niños con DI destacaban el evento inicial y el personaje, en un esquema más agencial.


Author(s):  
Marcos Gómez- Puerta ◽  
Esther Chiner

A pesar de que Internet tiene múltiples beneficios para la sociedad, también implica algunos riesgos que deben ser identificados. Estos riesgos se pueden percibir como mayores para algunos grupos más vulnerables como son los niños y las personas con discapacidad. No obstante, dichos riesgos no deben limitar el acceso a Internet, especialmente de las personas con discapacidad intelectual y del desarrollo (IDD). Por el contrario, se debería tener un mayor conocimiento sobre los peligros y cómo gestionarlos. El propósito de este estudio es explorar y comparar las percepciones que tienen los estudiantes de Magisterio sobre los riesgos del uso de Internet por personas con y sin IDD. Participó una muestra de conveniencia de 121 estudiantes de Magisterio de los cuales el 77% eran mujeres (n = 93) y la edad media de 21.79 años (DT = 4.23). Los participantes debían responder a un cuestionario que incluía algunas cuestiones sociodemográficas y 30 riesgos potenciales de Internet que se presentaron en una escala tipo Likert de cinco puntos (1 = Totalmente en desacuerdo; 5 = Totalmente de acuerdo). Los estudiantes debían valorar cada ítem dos veces, una para cada uno de los colectivos estudiados (personas con y sin IDD). A pesar de que los participantes perciben un alto riesgo en el uso de Internet, se encontraron diferencias estadísticamente significativas entre los grupos. Los estudiantes de Magisterio perciben mayores riesgos en Internet para las personas con IDD que para el resto de la población en cuestiones como el ciberacoso, ser expuesto a contenido inapropiado, comunicarse con desconocidos, pasar demasiado tiempo en las redes sociales o gastar dinero online.


2016 ◽  
Vol 54 (9) ◽  
pp. 1473-1479 ◽  
Author(s):  
Georgina Wilson ◽  
Päivi Liitti ◽  
Tuukka Pölönen ◽  
Mikko Sairanen ◽  
Kevin Spencer

AbstractBackground:The objective of the study was to compare a new AutoDELFIA®Inhibin A kit (B064-102) with the Access Inhibin A kit (A36097) using clinical specimens and to evaluate the AutoDELFIA®Inhibin A assay performance in screening for Down syndrome in the second trimester of pregnancy.Methods:Using clinical samples, we performed a method comparison between new and existing inhibin A kits and assessed AutoDELFIA®Inhibin A kit precision performance. Normal median values for the second trimester of pregnancy were also determined. Finally, we evaluated the screening performance of the AutoDELFIA®Inhibin A kit together with other second trimester biomarkers for the detection of Down syndrome.Results:The two methods showed a high degree of correlation (r=0.99, Pearson and Spearman correlation), and the average relative level difference between the methods at a concentration range of 41.7–1925 pg/mL was 19.6% [95% confidence interval (CI) from 17.6% to 21.5%]. The acceptable precision of the AutoDELFIA®Inhibin A kit was demonstrated: the within-lot CV% varied from 1.9% to 3.9%. The screening performance results show that AutoDELFIA®Inhibin A when added to a combination of other second trimester serum markers [human alpha foetoprotein (hAFP), free beta subunit of human chorionic gonadotropin (free hCGβ) and unconjugated estriol (uE3) or hAFP and free hCGβ] improves the detection rate of screening in both combinations.Conclusions:The performance of the AutoDELFIA®Inhibin A assay is highly acceptable for routine laboratory use for screening Down syndrome in the second trimester of pregnancy.


2005 ◽  
Vol 22 (1) ◽  
pp. 83-98 ◽  
Author(s):  
Shannon D. Ringenbach ◽  
Dawn A. Lantero

This study examined the influences of intention on continuous bimanual circle drawing performed by adults with Down syndrome (DS) and mental age (MA) and chronological age (CA) matched comparison groups. The task was performed with preferred and instructed coordination patterns paced by a 500 ms metronome. While all participants adopted an in-phase coordination mode in the preferred conditions, only the adults with DS were unable to perform in-phase coordination when instructed to do so. We suggest that intention to perform specific coordination patterns taxes the attentional resources available, and mental age may be a precipitating factor to appropriate attention directing when performing multiple tasks. Results are discussed with respect to the developmental differences in attentional resources.


Comunicar ◽  
2011 ◽  
Vol 18 (36) ◽  
pp. 173-180 ◽  
Author(s):  
Pedro Gutiérrez-Recacha ◽  
Almudena Martorell-Cafranga

New technologies have dramatically changed our daily lives and the way we are connected to other people. Television, cellular telephony and the Internet have opened up new opportunities in communication, leisure and training, and yet barriers prevent certain social groups from accessing these new technologies. People with intellectual disability (ID), for instance, are often «invisible» to communication and new technology researchers. An exploratory study was made of 156 adults with ID (workers and users of the Carmen Pardo-Valcarce Foundation sheltered employment programs and workshops in Madrid, Spain) to show their patterns of new technology (cell phones, Internet and television) use. The study confirms that these patterns are similar to those expected of the general public but spe cific differences were found. Some could be attributed to the direct effects of intellectual disability, but others could result from the hypothetical stigma effect on the attitude of those close to the person with intellectual disability, which might lead to discriminatory behaviors.Las nuevas tecnologías han introducido profundos cambios en nuestro entorno y en los modos de relacionarnos con los demás. La televisión, el teléfono móvil e Internet han abierto nuevas posibilidades de comunicación, ocio y formación para muchas personas. Pero el acceso a las nuevas tecnologías para algunos individuos o grupos sociales puede hallarse condicionado por diferentes barreras. Uno de los grupos que habitualmente resultan «invisibles» en las investigaciones sobre comunicación y nuevas tecnologías es el de las personas con discapacidad intelectual (DI). En la presente investigación han participado 156 personas adultas con DI (trabajadores y usuarios de la Fundación Carmen Pardo-Valcarce en Madrid, España). Se ha llevado a cabo un estudio exploratorio con el fin de caracterizar en términos generales los patrones de uso de las nuevas tecnologías de comunicación (Internet y teléfonos móviles) de los participantes, así como sus patrones de consumo de televisión. Como conclusión puede señalarse que las pautas de comportamiento de las personas con DI en relación a las nuevas tecnologías de información y comunicación, en términos generales, se aproximan a las de la población general. Solo en aspectos puntuales podemos encontrar diferencias llamativas. En algunos casos, tales diferencias pueden atribuirse directamente a la DI. Pero también es necesario tener en cuenta un posible efecto estigma actuando en las personas que rodean al individuo con DI, que puede motivar comportamientos discriminatorios.


2019 ◽  
Vol 18 (2) ◽  
pp. 63-78
Author(s):  
Maria Rosario Valera Fernández ◽  
Raquel SuárezPérez ◽  
Rosa Aceña Domínguez ◽  
Xavier Aliart Perarnau ◽  
Ana María González Cuello ◽  
...  

Justificación: Existe una asociación entre tabaquismo y TUS, especialmente con alcohol y cannabis. Sin embargo, las intervenciones sanitarias parecen no ir encaminadas a su enfoque.Objetivo: Evaluar el grado de motivación para el abandono tabáquico tras realizar una intervención psicoeducativa breve sobre abordaje del tabaquismo.Metodología: Se trata de una investigación cuantitativa de tipo analítico cuasiexperimental que se lleva a cabo mediante dos cohortes experimentales, del tipo pre- y post-intervención. Se aplica una intervención breve educativa y se evalúan las diferencias en la motivación para el abandono tabáquico en un grupo antes de la intervención y en otro grupo después de la misma. Resultados: Existe una diferencia de 1,27 puntos en el grado de motivación encontrado en los individuos respecto a los grupos experimentales. Conclusiones: Las personas drogodependientes son fumadoras con altos grados de dependencia nicotínica por lo que es preciso diseñar estrategias de cesación adecuadas. Justification: There is a connection between smoking and substances use disorder, especially alcohol and cannabis. Nevertheless, health interventions seem not to be addressed to this approach. Objective: Evaluation of the motivation degree for the smoking quit after developing a brief psycho-educational intervention on smoking.Methodology: It is a quantitative research of analytical type, almost experimental, developed by means of two experimental series, of the types pre- and post- intervention. A brief educational intervention is applied and there is an evaluation of the differences in the motivation for the smoking quit in a group before the intervention and in another one after the intervention. Results: There is a difference of 1,27 points in the degree of motivation found in the individuals regarding the experimental groups. Conclusions: Drug addict people are smokers with a high degree of nicotinic dependence, so it is necessary to design suitable strategies of quitting. .


2020 ◽  
Vol 40 (4) ◽  
pp. 367-389 ◽  
Author(s):  
Martina Penke ◽  
Eva Wimmer

In individuals with Down syndrome (DS) deficits in verbal short-term memory (VSTM) and deficits in sentence comprehension co-occur, suggesting that deficits in VSTM might be causal for the deficits in sentence comprehension. The present study aims to explore the presumed relationship between VSTM and sentence comprehension in individuals with DS by specifically targeting the influence of task demands. The authors assessed VSTM skills in 18 German-speaking children/adolescents with DS by a nonword repetition (NWR) test and elicited data from three different tasks on the comprehension of complex sentence structures: two sentence-picture-matching tasks (TROG-D and a passive test) and one picture-pointing task on object wh-questions. Whereas performance in NWR yielded a significant degree of prediction for scores obtained in the TROG-D and in passive comprehension, no significant degree of prediction was found for NWR and object wh-question comprehension. Moreover, implicational scaling analyses indicated that mental-age adequate performance in sentence comprehension did not imply adequate performance in NWR. Research is needed that specifies the relation between memory systems and sentence comprehension while considering the influence of task demands.


1986 ◽  
Vol 6 (4) ◽  
pp. 211-226 ◽  
Author(s):  
Kenneth J. Ottenbacher

Single-subject and time-series designs have recently been advocated as a preferred method of examining clinical change in individual patients. Data from single-subject designs are frequently analyzed by means of graphic presentation and visual inspection. The presence of serial dependency or autocorrelation in data collected from a single individual can reduce the reliability and accuracy of visual inferences. Fifty-four data paths from single-subject research published in the occupational therapy literature were reviewed to determine the degree of serial dependency present in each data set. The results revealed that a large portion (41 %) of the data sets contained a significant degree of autocorrelation. The implications of a high degree of serial dependency in relation to data analysis and interpretation are discussed, and methods to reduce the effect of serial dependency are suggested.


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