Moderating effects of impulsivity and morning cortisol on the genotype-phenotype relationship of attention deficit hyperactivity disorder in young adults.

Dysregulation of the morning cortisol response in young adults with attention deficit hyperactivity disorder (ADHD) has been shown to underlie several of the alterations present in their lives. Thus, the interaction of this mechanism with genetic and behavioural characteristics could explain a large proportion of the aetiology of ADHD in this population. For these reasons, the present study explores the associations of 30 single nucleotide polymorphisms (SNPs) previously identified as significant (after correction for multiple comparisons) in the aetiology of ADHD with an assessment of morning cortisol and impulsivity traits in a group of 120 adults aged 18-24 years. Participants were recruited through private centres of neuropsychology and psychiatry, as well as through events in local universities. Morning cortisol within 30 min of awakening and motor impulsivity traits were shown to moderate the effect of SNP rs10129500 on the severity of the symptoms of ADHD measured by the Adult Self-Report Scale. This variant associated with cortisol-binding globulin would explain the low concentrations of this hormone found in young adults with high symptoms of ADHD, which is accentuated when there are high levels of impulsivity. The proposed model allows for transferring the theoretical relationships between the dimensions that explain the aetiology of ADHD to an applied exploratory model with good performance.

Sequential production of motor-action verb subtypes in Parkinson's disease patients.

Motor-action verbs (MAVs) production and comprehension are compromised in patients with Parkinson's disease (PD). Objectives: The aim of this study was to characterize the sequential production of three subtypes of MAVs in PD patients: whole body (e.g., run), specific body part (e.g., kick), and instrumental (e.g., saw). This study also aimed to identify the production characteristics for each of the two main phases in fluency performance: selection (initial abundant item production) and retrieval (more paced and scarce production). Methods: This study involved a group of 20 nondemented, on-medication PD patients, with an average age of 66.59 years (standard deviation = 4.13), and a comparison group (CG) of 20 normal elderly individuals, matched by years of education and controlled for cognitive performance and depression. Both groups performed a classical verb fluency task. Sequential word-by-word analyses were conducted. Results: Significant differences were found at the initial production of whole-body MAVs and the overall production of instrumental verbs (both measures were lower in the PD group). A repeated-measures analysis of variance confirmed the linear CG performance and the quadratic PD performance. Conclusions: PD patients present altered production of whole-body and instrumental MAVs. This proposal for the semantic sequential analysis of motor verbs deserves further investigation, as a new methodology for the evaluation of fluency performance in motor-related disease.

A produção e a compreensão das ações motoras (MAVs) estão comprometidas em pacientes com doença de Parkinson (DP). Objetivos: Caracterizar a produção sequencial de três subtipos de verbos de MAVs: corpo inteiro (por exemplo, corre), parte corporal específica (por exemplo, chute) e instrumental (por exemplo, serra) em pacientes com DP. Identificar as características de produção para cada uma das duas principais fases em desempenho de fluência: seleção (produção inicial abundante de itens) e recuperação (produção mais acelerada e escassa). Métodos: Um grupo de 20 pacientes com DP não demência, com idade média de 66,59 (desvio padrão ­ DP= 4,13), e um grupo de comparação (GC) de 20 idosos normais, dísticos com anos de estudo e controle para desempenho cognitivo e depressão. Ambos os grupos realizaram uma tarefa clássica de fluência de verbo. Foram realizadas análises sequenciais palavra por palavra. Resultados: Diferenças significativas foram encontradas na produção inicial de MAVs de corpo inteiro e na produção global de verbos instrumentais (ambas as medidas foram menores no grupo PD). Uma medida repetida na análise de variância (ANOVA) confirmou o desempenho linear de CG e o desempenho quadrático de DP. Conclusões: Os pacientes com DP apresentam produção alterada de MAVs corporais inteiras e instrumentais. Esta proposta para a análise sequencial semântica dos verbos motores merece uma nova investigação, como uma nova metodologia para a avaliação do desempenho da fluência em doenças motoras.

Sequential production of motor-action verb subtypes in Parkinson's disease patients / Produção sequencial de subtipos de verbos de ação motora em pacientes com doença de parkinson

ABSTRACT Motor-action verbs (MAVs) production and comprehension are compromised in patients with Parkinson's disease (PD). Objectives: The aim of this study was to characterize the sequential production of three subtypes of MAVs in PD patients: whole body (e.g., run), specific body part (e.g., kick), and instrumental (e.g., saw). This study also aimed to identify the production characteristics for each of the two main phases in fluency performance: selection (initial abundant item production) and retrieval (more paced and scarce production). Methods: This study involved a group of 20 nondemented, on-medication PD patients, with an average age of 66.59 years (standard deviation = 4.13), and a comparison group (CG) of 20 normal elderly individuals, matched by years of education and controlled for cognitive performance and depression. Both groups performed a classical verb fluency task. Sequential word-by-word analyses were conducted. Results: Significant differences were found at the initial production of whole-body MAVs and the overall production of instrumental verbs (both measures were lower in the PD group). A repeated-measures analysis of variance confirmed the linear CG performance and the quadratic PD performance. Conclusions: PD patients present altered production of whole-body and instrumental MAVs. This proposal for the semantic sequential analysis of motor verbs deserves further investigation, as a new methodology for the evaluation of fluency performance in motor-related disease.

RESUMO A produção e a compreensão das ações motoras (MAVs) estão comprometidas em pacientes com doença de Parkinson (DP). Objetivos: Caracterizar a produção sequencial de três subtipos de verbos de MAVs: corpo inteiro (por exemplo, corre), parte corporal específica (por exemplo, chute) e instrumental (por exemplo, serra) em pacientes com DP. Identificar as características de produção para cada uma das duas principais fases em desempenho de fluência: seleção (produção inicial abundante de itens) e recuperação (produção mais acelerada e escassa). Métodos: Um grupo de 20 pacientes com DP não demência, com idade média de 66,59 (desvio padrão — DP= 4,13), e um grupo de comparação (GC) de 20 idosos normais, dísticos com anos de estudo e controle para desempenho cognitivo e depressão. Ambos os grupos realizaram uma tarefa clássica de fluência de verbo. Foram realizadas análises sequenciais palavra por palavra. Resultados: Diferenças significativas foram encontradas na produção inicial de MAVs de corpo inteiro e na produção global de verbos instrumentais (ambas as medidas foram menores no grupo PD). Uma medida repetida na análise de variância (ANOVA) confirmou o desempenho linear de CG e o desempenho quadrático de DP. Conclusões: Os pacientes com DP apresentam produção alterada de MAVs corporais inteiras e instrumentais. Esta proposta para a análise sequencial semântica dos verbos motores merece uma nova investigação, como uma nova metodologia para a avaliação do desempenho da fluência em doenças motoras.

FOXP2 and language alterations in psychiatric pathology / FOXP2 and language alterations in psychiatric pathology

Abstract Background From the first reports of the linguist Noam Chomsky it has become clear that the development of language has an important genetic component. Several reports in families have shown the relationship between language disorders and genetic polymorphisms. The FOXP2 gene has been a fundamental piece for the understanding of language development. This gene codes for a transcription factor containing a forkhead domain of DNA binding and participates in the regulation of the expression of a large number of genes involved in the embryonic development of fundamental neuronal structures needed for the development of speech and language. Objective To present an updated view of the relationship between FOXP2 and language alterations in psychiatric pathology. Method Narrative review of information reported in databases on the recent advances supporting genetic participation in language disorders of psychiatric illness. Results Update of content related to FOXP2 and its participation in language alterations in psychiatric diseases. Discussion and conclusion Advances in the genetic study of language disorders in psychiatric pathology open up new avenues of investigation that allow us to explore how language emerged and how it evolved, as well as to carry out comparative studies on the structure and functioning of genes to approach the understanding of this complex characteristic that makes us human.

Resumen Antecedentes Desde los primeros reportes del lingüista Noam Chomsky ha quedado claro que el desarrollo del lenguaje tiene un importante componente genético. Diversos reportes en familias han mostrado la relación entre los trastornos del lenguaje y ciertos marcadores genéticos. El gen FOXP2 ha sido una pieza fundamental para entender el desarrollo del lenguaje. Se trata de un gen que codifica para un factor de transcripción con un dominio forkhead de unión al DNA y que participa en la regulación de la expresión de un gran número de genes durante el desarrollo embrionario de estructuras neuronales fundamentales para el desarrollo del habla y el lenguaje. Objetivo Presentar un panorama actualizado de la relación del gen FOXP2 en las alteraciones del lenguaje en la patología psiquiátrica. Método Revisión narrativa de la información reportada en diversas bases de datos sobre los recientes avances que soportan la participación genética en las alteraciones del lenguaje presentes en enfermedades psiquiátricas. Resultados Actualización del contenido relacionado con el gen FOXP2 y su participación en las alteraciones del lenguaje en las enfermedades psiquiátricas. Discusión y conclusión Los avances en el estudio genético de las alteraciones del lenguaje en la patología psiquiátrica abren nuevos caminos de investigación que permiten explorar cómo surgió y cómo ha evolucionado el lenguaje, así como para llevar a cabo estudios comparativos sobre la estructura y el funcionamiento de genes para aproximarse al entendimiento de esta compleja característica que nos hace humanos.

Children and adolescents' performance on a medium-length/nonsemantic word-list test.

Word-list learning tasks are among the most important and frequently used tests for declarative memory evaluation. For example, the California Verbal Learning Test-Children's Version (CVLT-C) and Rey Auditory Verbal Learning Test provide important information about different cognitive-neuropsychological processes. However, the impact of test length (i.e., number of words) and semantic organization (i.e., type of words) on children's and adolescents' memory performance remains to be clarified, especially during this developmental stage. To explore whether a medium-length non-semantically organized test can produce the typical curvilinear performance that semantically organized tests produce, reflecting executive control, we studied and compared the cognitive performance of normal children and adolescents by utilizing mathematical modeling. The model is based on the first-order system transfer function and has been successfully applied to learning curves for the CVLT-C (15 words, semantically organized paradigm). Results indicate that learning nine semantically unrelated words produces typical curvilinear (executive function) performance in children and younger adolescents and that performance could be effectively analyzed with the mathematical model. This indicates that the exponential increase (curvilinear performance) of correctly learned words does not solely depend on semantic and/or length features. This type of test controls semantic and length effects and may represent complementary tools for executive function evaluation in clinical populations in which semantic and/or length processing are affected.

[Comorbidity characteristics in the different subtypes of attention deficit-hyperactivity disorder]. / Características de comorbilidad en los diferentes subtipos de trastorno por déficit de atención con hiperactividad.

Cormobidity characteristics in attention deficit-hyperactivity disorder (ADHD) have an important impact on the subjects' behaviour, learning and cognitive development. It has been proposed that certain comorbidity characteristics depend on the ADHD subtype (inattentive vs. hyperactive-impulsive). In this article, a neuropsychological analysis is presented of the comorbidity characteristics in 61 children with an ADHD diagnosis, divided into inattentive versus hyperactive-impulsive. The empirical results support the proposed conceptual division. Moreover, differences between cases with hyperactivity-without-impulsivity and cases with impulsivity with or without hyperactivity were analysed, and the findings revealed some significant differences and a differentiation tendency. The discussion is developed based on Barkley's and Diamond's models. It is concluded that a neuropsychological division reveals certain comorbidity characteristics in ADHD, resulting in a more precise description and the possibility of more specific treatment for each subgroup.

Características de comorbilidad en los diferentes subtipos de trastorno por déficit de atención con hiperactividad / Comorbidity characteristics in the different subtypes of attention deficit-hyperactivity disorder

Las características de comorbilidad en el trastorno por déficit de atención con hiperactividad (TDA-H) tienen un importante impacto en la conducta, aprendizaje y desarrollo cognitivo de los sujetos que las presentan. Se ha planteado que el tipo particular de estas características se presentan en función del subtipo de TDA-H (inatento vs. hiperactivo-impulsivo). En este artículo se presentan las características de comorbilidad de 61 casos de niños con TDA-H divididos en primer término en inatentos vs- hiperactivos-impulsivos. Se encontraron resultados empíricos estadísticamente significativos que apoyan esta división conceptual. Adicionalmente se analizaron las diferencias entre los casos con hiperactividad sin impulsividad y los casos con impulsividad con o sin hiperactividad, encontrándose algunas diferencias significativas y en general una tendencia a la diferenciación. Se analizan los resultados en base a los modelos de Barkley y Diamond. Se concluye que una división basada en modelos neuropsicológicos permite destacar de una forma más precisa las características de comorbilidad en el TDA-H, resultando en una mejor caracterización y posibilitando tratamientos más específicos para cada subgrupo (AU)

Cormobidity characteristics in attention deficit-hyperactivity disorder (ADHD) have an important impact on the subjects’ behaviour, learning and cognitive development. It has been proposed that certain comorbidity characteristics depend on the ADHD subtype (inattentive vs. hyperactive-impulsive). In this article, a neuropsychological analysis is presented of the comorbidity characteristics in 61 children with an ADHD diagnosis, divided into inattentive versus hyperactive-impulsive. The empirical results support the proposed conceptual division. Moreover, differences between cases with hyperactivity-without-impulsivity and cases with impulsivity with or without hyperactivity were analysed, and the findings revealed some significant differences and a differentiation tendency. The discussion is developed based on Barkley’s and Diamond’s models. It is concluded that a neuropsychological division reveals certain comorbidity characteristics in ADHD, resulting in a more precise description and the possibility of more specific treatment for each subgroup (AU)