INTRODUCTION: Genome-wide association studies (GWAS) are fundamental for identifying loci associated with diseases. However, they require replication in other ethnicities. METHODS: We performed GWAS on sporadic Alzheimer's disease (AD) including 539 patients and 854 controls from Argentina and Chile. We combined our results with those from the European Alzheimer and Dementia Biobank (EADB) in a meta-analysis and tested their genetic risk score (GRS) performance in this admixed population. RESULTS: We detected apolipoprotein E ε4 as the single genome-wide significant signal (odds ratio = 2.93 [2.37-3.63], P = 2.6 × 10-23 ). The meta-analysis with EADB summary statistics revealed four new loci reaching GWAS significance. Functional annotations of these loci implicated endosome/lysosomal function. Finally, the AD-GRS presented a similar performance in these populations, despite the score diminished when the Native American ancestry rose. DISCUSSION: We report the first GWAS on AD in a population from South America. It shows shared genetics modulating AD risk between the European and these admixed populations. HIGHLIGHTS: This is the first genome-wide association study on Alzheimer's disease (AD) in a population sample from Argentina and Chile. Trans-ethnic meta-analysis reveals four new loci involving lysosomal function in AD. This is the first independent replication for TREM2L, IGH-gene-cluster, and ADAM17 loci. A genetic risk score (GRS) developed in Europeans performed well in this population. The higher the Native American ancestry the lower the GRS values.
Alzheimer Disease , Azides , Genome-Wide Association Study , Humans , Chile , Alzheimer Disease/genetics , Genetic Predisposition to Disease/genetics , Polymorphism, Single Nucleotide/genetics
BACKGROUND: Multiple sclerosis (MS) has a negative effect on employment status. OBJECTIVE: To present the preliminary results of a special questionnaire designed to collect employment information on patients with MS. METHODS: The questionnaire on the impact of MS on employment status was completed by 63 patients. Fatigue, cognition, and depression were also evaluated, and 33 healthy participants were recruited as a control group. RESULTS: Regarding the patients' employment status, we found rates of 31.7% of full-time employment, 28.6% of part-time employment, 7.9% of unemployment due to MS, 4.8% of housewives, 1.6% retirement due to age, 15.9% of retirement due to disability, 7.9% of medical leave due to MS, and 1.6% of medical leave for other reasons. The rate of unemployment among the patients was significantly higher compared with that of the control group. Out of 38 working patients, 31% had been absent from work for the previous 3 months due to MS, and 50% had to make changes in their work to remain employed. Out of the 19 unemployed patients, 78% said that walking difficulties were the cause of unemployment, while 52% thought cognitive impairment was the cause. CONCLUSIONS: The questionnaire provides a record of the employment status of patients with MS and describes the impact on work from their point of view.
ANTECEDENTES: A esclerose múltipla (EM) tem um efeito negativo na situação laboral. OBJETIVO: Apresentar os resultados preliminares de um questionário elaborado para coletar informações sobre a situação laboral de pacientes com EM. MéTODOS: O questionário sobre o impacto da EM na situação laboral foi preenchido por 63 pacientes. Fadiga, cognição e depressão também foram avaliadas, e 33 pacientes saudáveis foram incluídos como grupo controle. RESULTADOS: Quanto à situação laboral dos pacientes, foram encontradas taxas de 31,7% de emprego em tempo integral, 28,6% de emprego em meio período, 7,9% de desemprego por EM, 4,8% de donas de casa, 1,6% aposentadoria por idade, 15,9% de aposentadoria por invalidez, 7,9% por licença médica por EM, e 1,6% de licença médica por outros motivos. A taxa de desemprego entre os pacientes foi significativamente mais alta em comparação com a do grupo controle. Dos 38 pacientes empregados, 31% tiveram que se afastar do trabalho nos 3 meses anteriores por causa da EM, e 50% tiveram que fazer mudanças em seu trabalho para permanecer empregado. Dos 19 pacientes desempregados, 78% mencionaram que as dificuldades de locomoção foram a causa do desemprego, enquanto 52% reportaram que a deterioração cognitiva foi a causa. CONCLUSõES: Este questionário fornece um registro da situação laboral dos pacientes com EM e descreve o seu impacto no emprego do ponto de vista deles.
Disabled Persons , Multiple Sclerosis , Humans , Adolescent , Multiple Sclerosis/complications , Employment , Surveys and Questionnaires , Fatigue/etiology
Abstract Background Multiple sclerosis (MS) has a negative effect on employment status. Objective To present the preliminary results of a special questionnaire designed to collect employment information on patients with MS. Methods The questionnaire on the impact of MS on employment status was completed by 63 patients. Fatigue, cognition, and depression were also evaluated, and 33 healthy participants were recruited as a control group. Results Regarding the patients' employment status, we found rates of 31.7% of fulltime employment, 28.6% of part-time employment, 7.9% of unemployment due to MS, 4.8% of housewives, 1.6% retirement due to age, 15.9% of retirement due to disability, 7.9% of medical leave due to MS, and 1.6% of medical leave for other reasons. The rate of unemployment among the patients was significantly higher compared with that of the control group. Out of 38 working patients, 31% had been absent from work for the previous 3 months due to MS, and 50% had to make changes in their work to remain employed. Out of the 19 unemployed patients, 78% said that walking difficulties were the cause of unemployment, while 52% thought cognitive impairment was the cause. Conclusions The questionnaire provides a record of the employment status of patients with MS and describes the impact on work from their point of view.
Resumo Antecedentes A esclerose múltipla (EM) tem um efeito negativo na situação laboral. Objetivo Apresentar os resultados preliminares de um questionário elaborado para coletar informações sobre a situação laboral de pacientes com EM. Métodos O questionário sobre o impacto da EM na situação laboral foi preenchido por 63 pacientes. Fadiga, cognição e depressão também foram avaliadas, e 33 pacientes saudáveis foram incluídos como grupo controle. Resultados Quanto à situação laboral dos pacientes, foram encontradas taxas de 31,7% de emprego em tempo integral, 28,6% de emprego em meio período, 7,9% de desemprego por EM, 4,8% de donas de casa, 1,6% aposentadoria por idade, 15,9% de aposentadoria por invalidez, 7,9% por licença médica por EM, e 1,6% de licença médica por outros motivos. A taxa de desemprego entre os pacientes foi significativamente mais alta em comparação coma do grupo controle. Dos 38 pacientes empregados, 31% tiveram que se afastar do trabalho nos 3 meses anteriores por causa da EM, e 50% tiveram que fazer mudanças em seu trabalho para permanecer empregado. Dos 19 pacientes desempregados, 78% mencionaram que as dificuldades de locomoção foram a causa do desemprego, enquanto 52% reportaram que a deterioração cognitiva foi a causa. Conclusões Este questionário fornece um registro da situação laboral dos pacientes com EM e descreve o seu impacto no emprego do ponto de vista deles.
Resumen Para poder cuantificar e investigar científicamente las quejas mnésicas de los pacientes, se hace necesario contar con un instrumento adaptado y que presente análisis psicométricos adecuados. El objetivo del presente trabajo fue estudiar propiedades psicométricas de una versión argentina del Cuestionario de Memoria Prospectiva y Retrospectiva. Para ello se administró el Cuestionario de Memoria Prospectiva y Retrospectiva de forma individual a 192 participantes sanos con más de 27 puntos en el Mini Mental State Examination. La media de edad fue de 39.67 años (DE = 12.3). La media de escolaridad fue de 14.5 años (DE = 2.72). A un subgrupo de participantes (n = 45) denominado Subgrupo A, también se les administraron pruebas de memoria prospectiva y retrospectiva. El Índice Global del Cuestionario presentó una distribución normal. Según el análisis factorial exploratorio se estableció la extracción de un factor que explicó el 35.19 % de la varianza. El coeficiente α de Cronbach fue de .87. La confiabilidad estimada por el método de la división por mitades fue de .73 y de .84 luego de la corrección con la fórmula de Spearman-Brown. No hubo correlación significativa entre las respuestas del cuestionario y los test de memoria retro y prospectiva en el subgrupo A. Estos resultados permiten concluir que el Cuestionario de Memoria Prospectiva y Retrospectiva presenta adecuados índices de confiabilidad y una estructura de un solo factor. Si bien no se asocia con el rendimiento objetivo en pruebas de memoria, muestra ser apropiado para el registro de las quejas subjetivas de los pacientes en la región de estudio.
Abstract Memory complaints are the reason for consultation in many cases of neurological injuries and in the majority of aged people who attend the neurological clinic. The presence of memory complaints is a diagnostic criterion for mild cognitive impairment, for which it is necessary to have an appropriate and specific instrument, which would allow us to quantify and scientifically investigate it. The aim of the present study is to analyze the psychometric properties of an Argentine version of the Prospective and Retrospective Memory Questionnaire: the factorial structure of the test; its internal consistency; correlations of the questionnaire with an objective measurement of retro and prospective memory; and correlations of the questionnaire with affective-emotional variables. The Mexican version of the Prospective and Retrospective Memory Questionnaire was administered individually to 192 healthy participants who achieved more than 27 point in the Mini Mental State Examination. A modification was made to the syntax of two sentences in order to increase the comprehensibility. A Global, Prospective and a Retrospective Index of the questionnaire was calculated for each participant. Anxiety (the State-Trait Anxiety Inventory: STAI) and depression (the Beck's Depression Inventory-II) scales were also administered. The mean age was 39.67 years (SD = 12.3). The average of schooling was 14.5 years (SD = 2.72). We also selected a subgroup of participants (n = 45) with a mean age of 37.58 years (SD = 11.4), and an average schooling in years of 14.36 (SD = 3). In addition to the memory questionnaire, this subgroup, called the A Subgroup, was administered prospective (El Cóndor test) and retrospective (The Selective Memory Test) objective memory tests. The mean in the Global Index was 32.25 (SD = 8.49), in the Prospective Index it was 17.3 (SD = 5.01) and in the Retrospective Index it was 14.95 (SD = 4.07). The test for normality of the distribution of the Global Index Kolmogorov-Smirnov (K-S) was Z = 1.031, p = .238. In the same way, the other two scores of the questionnaire show a normal curve, K-S of the Prospective Index Z = 1.109, p = .171; K-S of the Retrospective Index Z = 1.264, p = .082. According to the exploratory factor analysis through the Maximum Likelihood extraction method, a single factor explained 35.19 % of the variance. The Cronbach's α coefficient was .87. The reliability estimated by the split-half method was .73 and .84 after correction with the Spearman-Brown formula. There was a significant positive correlation of mild degree between the Global Questionnaire Index and the STAI Trait, r = .33, p = .013, and with the IDB-II, e = .23, p = .127. There was no significant correlation between the questionnaire responses and the retro and prospective memory objective tests in the A Subgroup. The Prospective and Retrospective Memory Questionnaire presents adequate reliability indexes and a single factor structure. The results indicate that the questionnaire associates with anxiety and depression in a positive way, but not with the objective measures of retro and prospective memory, in coincidence with the literature about the relationship between cognitive complaints and cognitive tests performance. In sum, this study shows that the questionnaire is an appropriate instrument to quantify patient's memory complaints and particularly for its use in the study region. This study is the first in the country to investigate the psychometric properties of the Prospective and Retrospective Memory Questionnaire, widely used in neuropsychological clinic and research around the world. Efforts should be made to obtain normative data and validation in the pathological population of interest.
INTRODUCTION: It is estimated that population aging will continue to rise over the next few years, increasing cases of cognitive impairment. This requires having short, reliable and low-cost tests aimed at the early detection of cognitive disorders. The Mini Mental State Examination (MMSE) is a widely used test that allows an initial screening of cognitive disorders. Regarding this test, there is no normative data for the Rosario Metropolitan Area, Argentina, in elderly subjects. OBJECTIVE: Obtain normative values for the MMSE test (language Spanish rioplatense version) in inhabitants of the Rosario Metropolitan Area, with ages 50 years and older. MATERIALS AND METHODS: The MMSE was administered to 1126 subjects in the context of a campaign to prevent cognitive impairment. When applying the exclusion criteria, the sample was reduced to 824 subjects. RESULTS: Schooling and age influence the performance of the test, while gender had no incidence. The means and standard deviations are reported according to levels of schooling and age ranges. CONCLUSIONS: These norms indicate an unprecedented local frame of reference for the purpose of researching cognitive disorders in subjects 50 years of age and older.
Cognition Disorders/diagnosis , Cognitive Dysfunction , Mental Status and Dementia Tests , Aged , Aging , Argentina , Cognition Disorders/epidemiology , Cognitive Dysfunction/diagnosis , Cognitive Dysfunction/epidemiology , Humans , Middle Aged , Neuropsychological Tests
INTRODUCTION: prospective memory is the ability to remember to perform actions in the future. Currently there is no consensus about the relationship between prospective memory and emotional processing. OBJECTIVE: The aim of this work is to determine the influence of the emotional valence of prospective memory signals on prospective recall in patients diagnosed with multiple sclerosis. METHOD: 37 patients with multiple sclerosis and 32 healthy volunteers were recruited. An experimental test was made where the concurrent task consisted in a 2-back working memory activity and the prospective component consisted of remembering to press a key on the computer when an image of positive, negative or neutral emotional content appears on the screen. RESULTS: An intra-group comparison was made between the memory of emotional and neutral stimuli, and it was obtained that the differences are significant in both groups in favor of the recall of stimuli with neutral valence (Z = -3.39, p = .001 for the control group and Z = -2.63, p = .008 for multiple sclerosis). DISCUSSION: The results indicate that emotionally neutral target stimuli benefits prospective memory in normal people and in multiple sclerosis patients. The limitations of the implemented method are discussed.
Emotions , Memory, Episodic , Multiple Sclerosis, Relapsing-Remitting , Case-Control Studies , Humans , Mental Recall
Introducción: La reserva cognitiva permite la activación de conexiones sinápticas adicionales y nuevas redes neurales frente a demandas del ambiente. Objetivo: Delimitar qué variables contribuyen a la formación de la reserva cognitiva y establecer su expresión en el desarrollo de la Enfermedad de Alzheimer. Metodología: Revisión bibliográfica sistemática y evaluativa de tipo cualitativa. Resultados: La educación, actividades de ocio, estilo de vida, estatus socioeconómico e inteligencia son las principales variables que aportan a la formación de la reserva cognitiva. Sujetos con alta reserva tienen menor prevalencia e incidencia de demencia. Aquellos que lleguen a desarrollar la enfermedad lo harán a una edad más tardía y con mayor severidad de síntomas. Conclusión: Las variables que contribuyen a la formación de la reserva cognitiva son, principalmente, variables socio-ambientales. La reserva se considera factor de protección frente a la enfermedad. Además, atrasaría la aparición de la demencia, logrando, en algunos casos, que nunca se llegue a desarrollar la enfermedad(AU)
Introduction: Cognitive reserve allows the activation of additional synaptic connections and new neural networks against environmental demands. Objective: Establish the variables that contribute to the formation of cognitive reserve and its expression in relation with Alzheimer´s Disease. Method: Systematic and evaluative review of qualitative type. Results: Education, leisure activities, lifestyle, socioeconomic status and intelligence are the main variables which contribute to the formation of cognitive reserve. Subjects with high reserve have lower prevalence and incidence of dementia. Those who develop Alzheimer´s Disease will do so at a later age and with more severe symptoms. Conclusions: The variables which contribute to the formation of cognitive reserve are, mainly, socio-environmental variables. The reserve is considered a protective factor against disease. It delays the onset of dementia avoiding, in some cases, the development of the pathology(AU)
Humans , Cognitive Reserve , Alzheimer Disease
Rare coding variants in TREM2, PLCG2, and ABI3 were recently associated with the susceptibility to Alzheimer's disease (AD) in Caucasians. Frequencies and AD-associated effects of variants differ across ethnicities. To start filling the gap on AD genetics in South America and assess the impact of these variants across ethnicity, we studied these variants in Argentinian population in association with ancestry. TREM2 (rs143332484 and rs75932628), PLCG2 (rs72824905), and ABI3 (rs616338) were genotyped in 419 AD cases and 486 controls. Meta-analysis with European population was performed. Ancestry was estimated from genome-wide genotyping results. All variants show similar frequencies and odds ratios to those previously reported. Their association with AD reach statistical significance by meta-analysis. Although the Argentinian population is an admixture, variant carriers presented mainly Caucasian ancestry. Rare coding variants in TREM2, PLCG2, and ABI3 also modulate susceptibility to AD in populations from Argentina, and they may have a European heritage.
Adaptor Proteins, Signal Transducing/genetics , Alzheimer Disease/ethnology , Alzheimer Disease/genetics , Membrane Glycoproteins/genetics , Phospholipase C gamma/genetics , Receptors, Immunologic/genetics , Aged , Aged, 80 and over , Argentina/ethnology , Black People/genetics , Female , Genetic Predisposition to Disease , Genetic Variation , Genome-Wide Association Study , Genotype , Humans , Indians, North American/genetics , Male , Middle Aged , White People/genetics
Hay dos posturas sobre cuáles son las emociones básicas. La clásica plantea que las mismas son asco, tristeza, alegría, enojo, miedo y sorpresa; y la postura actual concluye que las emociones básicas son tristeza, alegría y la combinación de miedo/sorpresa por un lado y enojo/asco por otro. El objetivo será estudiar las fallas en el reconocimiento de asco, enojo, miedo y sorpresa, y la relación en el tipo de error producido en una muestra de sujetos mayores sanos. Se evaluaron 18 sujetos con la batería de Reconocimiento Facial de Emociones Básicas considerando las respuestas correctas y las elecciones incorrectas. Los resultados obtenidos muestran que hay diferencias significativas entre los pares "miedo correcta-miedo por sorpresa"," sorpresa correcta-sorpresa por miedo","enojo correcta-enojo por asco" y "asco correcta-asco por enojo". Estos hallazgos apoyan la postura clásica sobre la existencia de las seis emociones básicas.
There are two main positions about what the basic emotions are. The standard posture establishes that the basic emotions are disgust, sadness, joy, anger, fear and surprise; however, the current position concludes that these basic emotions are sadness, joy and the combination of fear and surprise on one hand, and on the other, anger and disgust. The purpose will be to study the flaws on the recognition of the expressions of disgust, anger, fear and surprise, and the connection in the type of error produced in a cohort of healthy old subjects. 18 subjects were evaluated with the battery of Facial Recognition of Basic Emotions considering the correct answers and the incorrect selections. The results obtained show that there are significant differences between the pairs of ¨correct fear and fear by surprise¨, ¨correct surprise and surprise by fear¨, ¨correct anger and anger by disgust¨ and ¨correct disgust and disgust by anger¨. These findings support the standard posture about the existence of the 6 basic emotions.
Aged , Aged, 80 and over , Emotions , Perception , Aged
Las emociones básicas están biológicamente determinadas y ligadas a conductas fundamentales para la supervivencia. Las emociones secundarias son aquellas que para su reconocimiento, requieren la elaboración cognitiva de un contexto social, por lo tanto, de la Teoría de la Mente (TdM). La TdM fue definida como la habilidad de conceptualizar estados mentales de otros individuos para explicar y predecir gran parte de su comportamiento. No es un concepto unitario, existen disociaciones entre los componentes cognitivo y el emocional de la TdM. Han sido establecidas las alteraciones en el reconocimiento facial de emociones básicas (RFEB) y en las tareas de TdM en la variante conductual de la demencia frontotemporal (DFTvc). El objetivo del trabajo que se informa fue estudiar el reconocimiento de emociones básicas o primarias y su relación con la TdM en pacientes con DFTvc. El 81% de los pacientes mostró alteraciones en por lo menos uno de los tests de RFEB y el 35% en el reconocimiento de la prosodia emocional. El subtest Denominación y el Puntaje Total Emociones mostraron correlaciones con el Test Lectura de la Mente en los Ojos, mientras que todas las tareas de RFEB correlacionaron con la tarea de falsa creencia. Se encontraron dobles disociaciones entre TdM emocional y cognitiva, con mayor afectación del componente emocional. Como conclusión se corrobora la presencia de alteraciones en el RFEB con prosodia emocional conservada en la DFTvc. La ausencia de correlaciones entre emociones básicas y secundarias parecería indicar que se trata de procesos independientes entre sí.
Behavioral variant of frontotemporal dementia (bvFTD) is associated with dramatic changes in personality. The behavioral manifestations that show these patients may be due, to one hand, to abnormal emotional processing as a result of the anatomical regions concerned, and on the other, to alterations in Theory of Mind (ToM). Basic emotions are biologically determined. Joy, sadness, anger, disgust and fear are the emotional states that have received most agreement. ToM allows representing, inferring and interpreting mental and emotional states of others. It has been suggested that it is not a unitary concept. Cognitive Theory of Mind refers to the representations regarding the cognitive status of others. Affective ToM refers to the representation of emotional and motivational states. The objectives were to study the presence of alterations in the recognition of basic emotions in the face and voice in patients with bvFTD, aswell as examine the relation ships that exist between the recognition of basic emotions and TdM, to know if there are, or not, independent processes. To study, finally, the presence of dissociations between emotional and cognitive ToM, to know which one of these types of ToM shows greater alteration in our population. 26 bvFTD patients were assessed, diagnosed on the basis of the criteria proposed by the International Consortium Behavioral Variant FTD Criteria, and 23 control subjects. A battery for facial recognition of basic emotions (FRBE) was administered, selecting 60 photographs of the Pictures of Facial Affect. Three tasks were created, comprising 60 sheets each, 10 forevery basic emotion. A test for recognition of emotional prosody was also administered. Among the ToM tests were Reading the Mind in the Eyes (RME), Faux Pas, and Firs Order False Belief Task (FOFBT). 81% of the patients showed alterations in at least one of the tests RFEB, and 35% in emotional prosody recognition. All RFEB tasks showed a significantly moderate statistical correlation with the emotional prosody task. The Naming subtest and the Total Emotions Score (RFEB) showed correlations with RME test, while all tasks RFEB correlated with FC1ºO. Finally, 10 simple dissociations between altered FRBE and preserved emotional prosody were found, and double dissociations between emotional and cognitive ToM, with greater impairment of the emotional component of ToM Discussion: A decreased performance is corroborated in the bvFTD patients group, relative to a control group, in all FRBE tasks. The recognition of emotional prosody is preserved. The presence of correlations between RME and all FRBE tasks may be explained by the neuropsychological structure of the tasks. The correlations found between RME and under standing of emotional prosody may be due to the fact that both tests assess emotional comprehension. As for the correlations found between FC1ºO and all FRBE tasks, taking into account that there seems to be no bibliographic outcome regarding to this correlation, that the neuropsychological tasks structure is completely different, and that FC1ºO showed no correlations with the emotional prosody task, it seems not possible for us to explain this result, leaving open the possibility for the development of a acceptable conclusion. Because of the absence of significant correlations between all of the recognition of basic and complex emotions tasks, we infer that the basic emotions are a qualitatively different kind of emotional state that secondary emotions, this lasts ones processed through ToM.
En el contexto de evaluación de praxias, los gestos pueden clasificarse en tres categorías: transitivos, intransitivos y no familiares. Si bien ha sido reportada la disociación entre los distintos tipos de gestos, es usual que en la evaluación de praxias o en el análisis del desempeño de los pacientes no se consideren por separado estas tres categorías de gestos, o se varíe la definición de ellas. El objetivo del estudio que se informa fue evaluar si en un mismo grupo de pacientes con demencia tipo Alzheimer se encuentran disociaciones entre gestos transitivos, intransitivos y no familiares, previamente descriptas en el rendimiento práxico de pacientes con lesiones focales (González Rothi, Mack, Verfaellie, Brown & Heilman, 1988; Negri et al., 2007). Se evaluaron 50 pacientes con diagnóstico de demencia tipo Alzheimer probable en imitación de praxias (gestos transitivos, gestos intransitivos y gestos no familiares) y uso de objetos. Los estímulos fueron tomados de la batería cognitiva de evaluación de praxias (Politis, 2003). Los gestos eran inicialmente realizados por el examinador, quien mantenía su ejecución durante la imitación del paciente. El grupo con diagnóstico de demencia tipo Alzheimer rindió significativamente peor que el grupo de los controles sanos. En el grupo de pacientes, las cuatro pruebas de praxias correlacionaron entre si. Sin embargo, se hallaron disociaciones en el rendimiento individual de cada paciente en esas mismas pruebas. La disociación entre gestos transitivos, intransitivos y no familiares apoya la posibilidad de que estos diferentes tipos de gestos involucren sistemas de procesamiento distintos.
Apraxia is classically defined as a difficulty or inability to imitate gestures, produce pantomimes of tool's use, or make gestures to verbal command. In apraxia assessment, gestures can be classified in transitives, intransitives, and non-familiars. The movements are classified according to the purpose of the motor act: if involves manipulation of an object, if serves to communicate ideas or feelings, or if it lack of any practical or symbolical value. Whilst the selective impairment for the processing of transitive gestures was widely reported, a deficit restricted to intransitive gestures was reported only exceptionally. Although it has been reported dissociation between different types of gestures, is usual in apraxia assessment that these three categories of gestures don't be considered separately or that varies the definition of these categories. The aim of this study was verify the presence of dissociations between transitives, intransitives, and non-familiars gestures in a same group of patients with Alzheimer-type dementia, that was previously described in the praxias performance of patients with focal lesions (González Rothi, Mack, Verfaellie, Brown, & Heilman, 1988; Negri et al., 2007). It was assessed imitation of transitives, intransitives and non-familiar gestures, and the use of objects, in 50 patients of the Neurology Department of Eva Perón Hospital (Buenos Aires -Argentina) diagnosed with probable Alzheimer-type dementia, under the diagnostic criteria of NINCDS - ADRDA. The Alzheimer-type dementia group performed the tasks significantly worse than healthy controls. 72% showed deficit in the per formance of at least one of the praxis battery tests. In Alzheimer-type dementia group, each praxis subtest are significantly and positively correlated with the others. However, there were dissociations in the performances at the single-case level analysis. One patient (Case 3) showed a selective deficit in imitation of intransitives gestures, while retaining the imitation of transitives gestures and non-familiar gestures; five patients (Cases 16, 23, 31, 45, and 46) showed an exclusively impairment in the imitation of transitives gestures while retaining the imitation of intransitives gestures and non-familiar gestures; and five patients (Cases 2, 6, 12, 14, and 29) showed a deficit only in the imitation of non-familiar gestures, while retaining the imitation of transitives and intransitives gestures. The dissociation between transitives, intransitives, and non-familiar gestures supports the possibility that these different types of gestures implicate different processing systems. The presence of double dissociations points out that the processes underlying each task, at least, are partially independent, and can be affected in a differentiated way. The finding of alterations in the three types of gestures questions the hypothesis that ideomotor apraxia is a disorder in the representations underlying transitives gestures (Buxbaum et al., 2005). The double dissociation found in theimitation of familiar gestures and non-familiar gestures provides new evidence for a non-lexical path, exclusive for imitating non-familiar gestures (González Rothi, Ochipa, & Heilman, 1991) and contradicts the model of ideomotor apraxia that propose a common substrate for lexical path and non-lexical pathway, linked to body schema (Buxbaum, Giovannetti, & Libon, 2000). The results of this work show the value of the study of multiple cases for the validation of cognitive models in patients with brain injuries. It is transcendent the systematic exploration and analysis of the different types of gestures in apraxic patients, in theoretical terms and with a view to developing clinical advantages in identifying and potentially rehabilitate apraxia.
Introducción: Los déficits cognitivos muestran una prevalencia del 43 en Esclerosis Múltiple (EM) en nuestro país. Influyen de manera discapacitante sobre la calidad de vida, en particular en las actividades sociales y laborales. Un nuevo paradigma de estudio es la Memoria Prospectiva (MP), definida como la habilidad para recordar intenciones demoradas. Objetivo: Analizar el rendimiento de MP en pacientes con EM y su relación con otras variables cognitivas y con la discapacidad física. Metodología: Fueron evaluados 15 pacientes con EM Recaídas y Remisiones y 15 voluntarios sanos con una batería de test neuropsicológicos compuesta por El Cóndor como medida de MP y otros test de memoria, atención y funciones ejecutivas. Los pacientes fueron evaluados además con dos medidas de discapacidad. Resultados: Se hallaron diferencias significativas en el puntaje total de El Cóndor a favor del grupo control. Se hallaron correlaciones significativas entre la MP y planificación, velocidad de procesamiento y memoria de trabajo. No se encontraron correlaciones entre MP y discapacidad. Conclusiones: Los pacientes con EM poseen bajo rendimiento en MP. La MP se asocia con medidas de memoria de trabajo, fluencia verbal y velocidad de procesamiento pero no con discapacidad.
Humans , Multiple Sclerosis/psychology , Memory , Neuropsychological Tests
Introducción: Los déficits cognitivos muestran una prevalencia del 43 en Esclerosis Múltiple (EM) en nuestro país. Influyen de manera discapacitante sobre la calidad de vida, en particular en las actividades sociales y laborales. Un nuevo paradigma de estudio es la Memoria Prospectiva (MP), definida como la habilidad para recordar intenciones demoradas. Objetivo: Analizar el rendimiento de MP en pacientes con EM y su relación con otras variables cognitivas y con la discapacidad física. Metodología: Fueron evaluados 15 pacientes con EM Recaídas y Remisiones y 15 voluntarios sanos con una batería de test neuropsicológicos compuesta por El Cóndor como medida de MP y otros test de memoria, atención y funciones ejecutivas. Los pacientes fueron evaluados además con dos medidas de discapacidad. Resultados: Se hallaron diferencias significativas en el puntaje total de El Cóndor a favor del grupo control. Se hallaron correlaciones significativas entre la MP y planificación, velocidad de procesamiento y memoria de trabajo. No se encontraron correlaciones entre MP y discapacidad. Conclusiones: Los pacientes con EM poseen bajo rendimiento en MP. La MP se asocia con medidas de memoria de trabajo, fluencia verbal y velocidad de procesamiento pero no con discapacidad.(AU)
Humans , Multiple Sclerosis/psychology , Memory , Neuropsychological Tests
