Impacto de la rehabilitación neuropsicológica computarizada en un paciente con anemia de células falciformes y TDAH. Estudio experimental de caso único

Introducción: La anemia de células falciformes (ACF) es una enfermedad genética que provoca una malformación en el glóbulo rojo, volviéndolo más frágil y desencadenando su lisis. Por su forma anómala predispone a eventos oclusivos en vasos de menor tamaño, incluyendo aquellos en el sistema nervioso central. La literatura documenta presencia de infartos cerebrales silentes y no silentes asociados a ACF, con sus respectivas alteraciones cognitivas. En los últimos años se ha reportado que existe compromiso cognitivo y mayor presencia de trastornos del neurodesarrollo, como el trastorno por déficit de atención e hiperactividad (TDAH) en aquellos niños con ACF que aún no han tenido eventos cerebrales isquémicos. Método: Se llevó a cabo un estudio experimental y prospectivo de caso único, que consistió en un programa de rehabilitación por medio de la plataforma de entrenamiento cognitivo para la atención y concentración de CogniFit. Durante 45 sesiones, se realizaron mediciones de respuestas en atención y control inhibitorio, utilizando la Batería de Evaluación Cognitiva para la Atención (CAB-AT). Resultados: Se observó que la intervención tuvo un impacto significativo en el componente de atención, el cual se mantuvo por encima de la línea de base, incluso después de suspender la intervención. Sin embargo, no se encontró un impacto importante en el control inhibitorio. Conclusión: Aunque la intervención mejoró la atención, no lo hizo con el control inhibitorio. Se recomienda complementar la rehabilitación con manejo farmacológico y diseñar nuevos estudios con poblaciones heterogéneas.

Introduction: Sickle cell anemia (SCA) is a genetic disease that causes a malformation in red blood cells, making them more fragile and leading to their lysis. Due to their abnormal shape, they predispose to occlusive events in smaller blood vessels, including those in the central nervous system. Literature documents the presence of silent and non-silent cerebral infarctions associated with SCA, along with respective cognitive impairments. In recent years, cognitive impairment and a higher prevalence of neurodevelopmental disorders such as attention deficit hyperactivity disorder (ADHD) have been reported in children with SCA who have not experienced ischemic brain events. Method: An experimental and prospective single-case study was conducted, consisting of a rehabilitation program using the CogniFit platform for cognitive training in attention and concentration. Measurements of attention and inhibitory control responses were taken during 45 sessions, using the Cognitive Assessment Battery for Attention (CAB-AT). Results: It was observed that the intervention had a significant impact on the attention component, which remained above the baseline even after discontinuing the intervention. However, no significant impact was found on inhibitory control. Conclusion: Although the intervention improved attention, it did not have the same effect on inhibitory control. Complementing rehabilitation with pharmacological management and designing new studies involving heterogeneous populations are recommended.

Cognición social y funcionamiento ejecutivo en los trastornos del espectro autista: ¿Qué hace la diferencia? / Social cognition and executive function in autism spectrum disorders: What difference does it make?

Resumen El trastorno del espectro autista (TEA) es un trastorno del neurodesarrollo, cuyas dificultades radican en las esferas social y comportamental. Al presente se ha estimado que aproximadamente uno entre 59 niños presentó esta condición, que es más frecuente en hombres. El nivel depende de la severidad de las alteraciones; el nivel 1 corresponde a lo que anteriormente se conocía como síndrome de Asperger. El objetivo de este trabajo es determinar la relación entre cognición social (CS) y el funcionamiento ejecutivo (FE) en una muestra de niños con trastorno del espectro autista nivel 1. Para esto, se desarrolló una metodología observacional, transversal, analítico-correlacional con diseño de dos grupos independientes, TEA (n = 39) y control (n = 39) de entre 8 y 16 años, todos escolarizados. Para la evaluación de las FE se utilizaron los test de clasificación de tarjetas, fluidez verbal y dígitos en regresión de la Evaluación Neuropsicológica Infantil (ENI), y para la evaluación de la CS se usaron el test de falsas creencias de primer y segundo orden, el test de expresiones faciales, las historias extrañas de Happé, el test de metidas de pata (faux pas) y el test de la mirada para niños. Este estudio encontró que los test de CS -las historias extrañas de Happé y el test de las miradas- logran discriminar a ambos grupos y confirman que los sujetos TEA tienen alteración en la teoría de la mente (ToM) emocional y, asimismo, sugiere revisar la evaluación del funcionamiento ejecutivo para delinear mejor la interacción entre FE y CS en el TEA. Para ello, se recomienda ampliar la medición de las FE de dominio más emocional y delinear nuevas estrategias para comprender la interacción entre los dominios cognitivo y social, y avanzar en la intervención neurocognitiva y en el pronóstico en este síndrome.

Abstract Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by persistent challenges in social interaction, speech and nonverbal communication, and restricted/repetitive behaviors. The level varies depending on the impact and persistence of the symptoms in the person's daily life. Some level 3 cases have a full dependence on their caregivers, while level 1, the other side of the spectrum, includes what used to be known as Asperger's Syndrome (AS), who usually have a normal IQ and high language skills. The prevalence varies depending on the country and type of methodology for the estimation; at present it has been estimated that approximately 1 in 59 children presented this condition according to the study of the Centers for Disease Control and Prevention (CDC). In Colombia, a high prevalence of the disorder has been found: from 1/87 to 1/91 according to the screening instrument. The objective of this work is to determine the relationship between social cognition (SC), that focuses on how people process, store, and apply information about other people and social situations, and executive functioning (EF), that are skills we use every day to learn, work and manage daily life, in a sample of children with level 1 Autism Spectrum Disorder. An observational, cross-sectional, correlational analytical methodology was designed with two independent groups, ASD (n = 39) and control (n = 39) between 8 and 16 years of age, all of them enrolled in school. Both groups were assessed by neurodevelopmental experts to determine the presence or absence of ASD symptoms. For the components of the EF, the card classification subtests, regression digit span and phonological fluency of the Infant Neuropsychological Assessment (ENI) were used to evaluate the capacity for abstraction, the formation of concepts and the change of cognitive strategies in response to the changes that occur in environmental contingencies, as well as the initiation, efficient organization of verbal recovery, inhibition and self-monitoring. For the SC, the first and second order false beliefs were used to evaluate the ability of subjects to infer that someone has a belief that is different from their own and a third party; the Facial Expressions Test, to assess facial emotional recognition; and advanced tests such as Happé's Strange Stories, the Faux Pas test and Reading the mind in the eyes test to assess understanding of covert language, detection of lies or deception, and attribution of cognitive emotions through inference from beliefs or intentions of others. This study found that the SC test, Happé's strange stories and Reading the mind in the eyes test were able to discriminate both groups and confirm that ASD subjects have an alteration in emotional Theory of Mind. Although no differences were found in EF between the two groups, the hypothesis that there are alterations in EF in ASD is not rejected; on the contrary, the importance of carrying out a complete evaluation with sensitive instruments is emphasized, it suggests reviewing the evaluation of executive functioning to better delineate the interaction between EF and SC in ASD, expanding the measurement of EF of more emotional domain including some "hot" EF measures; outlining new strategies to understand the interaction between the cognitive and social domains, advancing neurocognitive intervention and prognosis in this syndrome. In future phases of this line of research, a better choice of instruments should be considered, including the Theory of Mind Inventory-2 (ToMi-2), a questionnaire filled out by caregivers that allows obtaining information on factors and domains evaluated by the applied tests that also has a pragmatic subscale.

Executive function deficit in bipolar offspring: A neurocognitive endophenotype?

BACKGROUND: Recent studies in bipolar offspring (BO) showed that a low cognitive performance, especially executive function deficit, could be an early marker of bipolar disorder (BD). Nevertheless, these findings have not been replicated (specifically attentional control, flexibility, and working memory). In addition, most studies have focused on children and adolescents, but few studies analyze the executive function performance in BO adults. OBJECTIVE: Our goal was to compare the neurocognitive performance of BO with control parent-offspring (CO) in a sample that included various age groups. METHOD: We conducted a cohort study, including subjects between six to 30 years old. We evaluated 129 BO and 113 CO subjects using validated psychiatric diagnostic interviews and an extensive neuropsychological battery. RESULTS: Compared to the CO group, the BO group presented a lower performance in several executive functioning domains, mainly in tasks of attentional control, flexibility, and working memory. All age groups exhibited these findings. CONCLUSIONS: BO group presents executive function deficits, regardless of the age group: children, adolescents, and adults. This neurocognitive deficit should be accountable as a neurocognitive endophenotype candidate in BD.

INECO Frontal Screening (IFS): una herramienta psicométrica para evaluar la disfunción ejecutiva en policonsumidores / INECO frontal screening (IFS): A test battery to assess executive dysfunction in polyconsumers

Resumen La presente investigación tiene como objetivo analizar las propiedades psicométricas del INECO frontal screening (IFS) en una población de policonsumidores de la ciudad de Medellín, Colombia. El instrumento se administró a una muestra de 69 sujetos con consumo de sustancias psicoactivas y 69 sujetos control. Los análisis psicométricos evidencian una consistencia aceptable del test: 0.7; con respecto a su utilidad diagnóstica se estimó un punto de corte de 22.5 con una sensibilidad del 80% y una especificidad del 91%. Se encontró evidencia de validez de criterio al comparar el desempeño cognitivo entre el grupo caso y control obteniendo diferencias significativas: p<0.05 en cada escala y puntaje total. Por último, se realizó la validez de constructo mediante el análisis factorial exploratorio, encontrando una varianza explicada total de la prueba del 56%, proponiendo tres factores, lo cual contribuye a la eficacia del IFS para identificar déficits cognitivos en población con algún compromiso neurológico o alteraciones neuropsicológicas.

Abstract This study analyzed the psychometric properties of the INECO Frontal Screening, IFS, in a population of polyconsumers of the city of Medellín, Colombia. The Psychometric analysis showed an acceptable consistency of the test: 0.7; with respect to its diagnostic utility, a cutoff point of 22.5 was estimated with a sensitivity of 80% and a specificity of 91%. As to its validity, evidence of criterion validity was found when comparing cognitive performance between the case and control group, obtaining significant differences: p <0.05, in each scale and total score. Finally, construct validity was performed through exploratory factor analysis, and the total variance explained of the 56% test was found, suggesting three factors, which contribute to the effectiveness of the IFS test to identify cognitive deficits in people with some type of neurological and neuropsychological dysfunction.

Prevalence and Clinical Characteristics of the Restless Legs Syndrome (RLS) in Patients Diagnosed with Attention-Deficit Hyperactivity Disorder (ADHD) in Antioquia.

INTRODUCTION: Attention Deficit Hyperactivity Disorder (ADHD) is the most common behavioral issue for children. One of the sleeping disorders most frequently related to ADHD is the Restless Legs Syndrome (RLS), characterized by an irresistible urge to move the legs, something that is generally associated with paresthesias and motor restlessness. The prevalence rate of RLS in children diagnosed with ADHD is close to 18%, but in Colombia, these cases have been hardly studied. OBJECTIVE: To determine the frequency of RLS, in children with ADHD. METHODS: A cross-sectional study, filled out by parents of children diagnosed with ADHD, were analyzed. This questionnaire contained clinical criteria for classifying ADHD according to the DSM-IV, as well as diagnostic criteria for RLS by the National Institutes of Health (2003). RESULTS: A predominance rate of 65.6% in combined ADHD was observed in children with RLS criteria. Upon carrying out an exploratory data analysis, it was found that having a family history of RLS and belonging to the middle or low socioeconomic strata are conditions associated with the presence of RLS in children with ADHD, with a significant p (p < 0.000) and a PR of 4.47 (3.16-6.32). CONCLUSIONS: The prevalence of RLS was similar to the findings of other clinical investigations. However, it highlights new prevalence values in relation to the comorbidity between ADHD and RLS, suggesting the need for new clinical and therapeutic alternatives amidst the presence of both syndromes.

INTRODUCCIÓN: El trastorno de hiperactividad con déficit de atención (TDAH) es el problema de comportamiento más común en la infancia. Uno de los trastornos de sueño que más se ha relacionado el TDAH es el síndrome de piernas inquietas (SPI) el cual conlleva un deseo irresistible de mover las piernas que, en general, se asocia con parestesias e inquietud motora. La prevalencia del SPI en la población infantil diagnosticada con TDAH es de cerca del 18 %. Sin embargo, en Colombia han sido escasamente estudiados. OBJETIVO: Determinar la frecuencia de SPI en niños con TDAH. MÉTODO: se realizó un estudio de corte transversal, con el uso de cuestionarios diligenciados por los padres de niños con diagnóstico de TDAH. Dicho cuestionario contenía criterios clínicos para la clasificación del TDAH según el DSM-IV, y criterios diagnósticos para SPI del National Institutes of Health pediatric restless legs syndrome (2003). RESULTADOS: Los niños con criterios de SPI tuvieron predominio del TDAH combinado en un 65.6%. Al realizar el análisis exploratorio se encontró que tener historia familiar de SPI y estrato medio o bajo se asocian con la presencia del SPI en niños con TDAH, con una p significativa (p < 0.000) y una RP de 4.47 (3.16-6.32). CONCLUSIONES: La prevalencia de SPI fue similar a los hallazgos de otras investigaciones clínicas, sin embargo, resalta nuevos valores de prevalencia en relación a la comorbilidad entre el TDAH y el SPI, sugiriendo la necesidad de habilitar nuevas alternativas clínicas y terapéuticas en la presencia de ambos síndromes.

Visibilización de la producción académico-investigativa en psicología y glocalización de las capacidades productivas de la psicología en Colombia / Visibilidade da produção acadêmico-investigativa na psicologia e globalização das capacidades produtivas da psicologia na Colômbia / Visibilization of academic and research production and glocalization of productive capacities in psychology in Colombia

La visibilización de las revistas colombianas en psicología ha alcanzado en el escenario ibero-latinoamericano importantes logros. Para ello han afrontado retos en la calidad editorial y científica, se han insertado en eventos académicos de mayor alcance geográfico y temático; igualmente han asumido los principios del acceso abierto, y han aprendido de la instrumentación para participar en sistemas internacionales de indexación. En medio de estos avances y logros alcanzados, en el artículo se pretende explicitar las rutas de la trayectoria de la productividad y visibilidad de conocimiento que se han recorrido. Asimismo, se señala la importancia de estrategias integradoras para fortalecer una comunidad académicoinvestigativa significativa y potente, que oriente las tareas de visibilidad en todos los niveles y de autoconocimiento de sus verdaderas capacidades productivas.

Colombian psychology journals have made great efforts in order to gain visibility in Latin America. They have improved editorial and scientific quality and participated in academic events with a broader geographic and thematic scope. Additionally, they have adopted the principles of open access and learned how to participate in international indexation systems. This article intends to make explicit the routes and trajectories of these changes in productivity and visibility. In a similar fashion, the article points out the importance of integrative strategies in the process of strengthening an academic and research community, able to organize the visibility strategies at all levels, and knowledgeable of its own productive capacity.

A visibilidade das revistas colombianas em psicologia vem atingindo, no cenário ibero-latinoamericano, conquistas relevantes. Para isso, têm enfrentado desafios na qualidade editorial e científica ao mesmo tempo em que vêm se inserindo em eventos acadêmicos de maior alcance geográfico e temático; igualmente, elas têm assumido os princípios do acesso livre e têm aprendido da instrumentação para participar em sistemas internacionais de indexação. Em meio desses avanços e conquistas, no artigo se pretende explicitar a trajetória da produtividade e visibilidade de conhecimento que vem sendo percorrida. Consonantemente, sinaliza-se a relevância de estratégias integradoras para fortalecer uma comunidade acadêmico-investigativa significativa e potente, que oriente as tarefas de visibilidade em todos os níveis e de autoconhecimento de suas verdadeiras capacidades produtivas.

Exploring epistasis in candidate genes for antisocial personality disorder.

OBJECTIVE: To identify and characterize high-order gene-to-gene interactions in antisocial personality disorder (ASPD). METHODS: Participants for case-control study were selected from the inmate male population in Bellavista prison from Medellin. The study included 310 individuals with ASPD and 200 with no ASPD. Diagnoses were made according to a best-estimate procedure based on a semistructured interview (diagnostic interview for genetic studies 3.0). We genotyped some single-nucleotide polymorphisms in candidate genes with main serotonin pathway effects. The gene-gene interaction was examined using the multifactor dimensionality reduction method version 2.0.α. We assessed model sizes of 2 and 3 loci and counted the number of replicates that contained the causal loci in the final best model that was identified using 10-fold cross validation. RESULTS: We find epistatic interaction with catechol-O-methyl transferase (COMT), tryptophan hydroxylase, and 5-HTR2A (serotonin receptor) with ASPD. This data supports an important role of polymorphism in serotonin receptors and low enzyme activity of COMT for susceptibility to ASPD. CONCLUSION: This study suggests that gene interactions between genetic variants in COMT, 5-HTR2A and tryptophan hydroxylase gene would be associated with ASPD and influence the dopamine rewards pathways and modulate serotonin levels in ASPD.