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Resumen El trastorno por déficit de atención/hiperactividad (TDAH) es un trastorno del neurodesarrollo complejo y heterogéneo desde una perspectiva causal, clínica y pro nóstica. La investigación refleja su carácter multifactorial con un papel destacado de los factores genéticos. Los estudios poblacionales han señalado históricamente la implicación de numerosas variantes genéticas de escaso tamaño de efecto, las cuales por sí mismas apenas incre mentan el riesgo de TDAH y difícilmente justifican su ele vada heredabilidad. Muchas de ellas están presentes en más del 60% de la población general, lo que sugiere su pa pel modulador más que causal. No obstante, gracias a la irrupción de nuevas técnicas genéticas en los últimos 15 años, se están identificando un mayor número de casos con trastornos genéticos (muchos de ellos monogénicos), cuyas variantes genéticas explican por sí mismas la presencia del TDAH. El estudio detallado de los antecedentes personales y familiares, así como una exploración física completa, puede ayudar a identificar algunos de ellos. La identificación de la causa en este conjunto de casos tiene un valor crucial en el asesoramiento clínico, el consejo genético-familiar y la anticipación pronóstica, así como en la realización o evitación de estudios complementarios y en el diseño del plan terapéutico.
Abstract Attention-deficit/hyperactivity disorder (ADHD) is a complex and heterogeneous neurodevelopmental disor der from a causal, clinical and prognostic perspective. Research reflects its multifactorial nature with a promi nent role of genetic factors. Population studies have historically pointed to the involvement of numerous genetic variants of small effect size, which hardly by themselves increase the risk of presenting the disorder and hardly justify its high heritability. Many of them are present in more than 60% of the general population, suggesting their modulatory rather than causal role. However, after the irruption of new genetic techniques in the last 15 years, a greater number of cases are be ing identified with genetic disorders (many of them monogenic), whose genetic variants alone explain the presence of ADHD. A detailed study of the personal and family history, as well as a complete physical examination, can help to identify some of them. The identification of the cause in this group of cases has a crucial value in clinical counseling, genetic-familial counseling and prognostic anticipation, as well as in the performance or avoidance of complementary stud ies and in the design of the intervention plan.
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Electrophysiological and behavioural correlates of true and false memories were examined in the Deese/Roediger-McDermont (DRM) paradigm. A mass univariate approach for analysing event-related potentials (ERP) in the temporal domain was used to examine the electrophysiological effects associated with this paradigm precisely (point-by-point) and without bias (data-driven). Behaviourally, true and false recognition did not differ, and the predicted DRM effect was observed, as false recognition of critical lures (i.e., new words semantically related to studied words) was higher than false alarms of new (unrelated) words. Neurally, an expected old/new effect was observed during the time-range of the late positive component (LPC) over left centro-parietal scalp electrodes. Furthermore, true recognition also evoked larger LPC amplitudes than false recognition over both left centro-parietal and fronto-central scalp electrodes. However, we did not observe LPC-related differences between critical lures and new words, nor between correct rejections of critical lures and new words. In contrast, correct rejections of critical lures were accompanied by higher activation of a sustained positive slow wave (SPSW) in right fronto-central electrodes beyond 1200â ms. This result reveals a key role of post-retrieval processes in recognition. Results are discussed in light of theoretical approaches to false memory in the DRM paradigm.
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Attention-deficit/hyperactivity disorder (ADHD) is a complex and heterogeneous neurodevelopmental disorder from a causal, clinical and prognostic perspective. Research reflects its multifactorial nature with a prominent role of genetic factors. Population studies have historically pointed to the involvement of numerous genetic variants of small effect size, which hardly by themselves increase the risk of presenting the disorder and hardly justify its high heritability. Many of them are present in more than 60% of the general population, suggesting their modulatory rather than causal role. However, after the irruption of new genetic techniques in the last 15 years, a greater number of cases are being identified with genetic disorders (many of them monogenic), whose genetic variants alone explain the presence of ADHD. A detailed study of the personal and family history, as well as a complete physical examination, can help to identify some of them. The identification of the cause in this group of cases has a crucial value in clinical counseling, genetic-familial counseling and prognostic anticipation, as well as in the performance or avoidance of complementary studies and in the design of the intervention plan.
El trastorno por déficit de atención/hiperactividad (TDAH) es un trastorno del neurodesarrollo complejo y heterogéneo desde una perspectiva causal, clínica y pronóstica. La investigación refleja su carácter multifactorial con un papel destacado de los factores genéticos. Los estudios poblacionales han señalado históricamente la implicación de numerosas variantes genéticas de escaso tamaño de efecto, las cuales por sí mismas apenas incrementan el riesgo de TDAH y difícilmente justifican su elevada heredabilidad. Muchas de ellas están presentes en más del 60% de la población general, lo que sugiere su papel modulador más que causal. No obstante, gracias a la irrupción de nuevas técnicas genéticas en los últimos 15 años, se están identificando un mayor número de casos con trastornos genéticos (muchos de ellos monogénicos), cuyas variantes genéticas explican por sí mismas la presencia del TDAH. El estudio detallado de los antecedentes personales y familiares, así como una exploración física completa, puede ayudar a identificar algunos de ellos. La identificación de la causa en este conjunto de casos tiene un valor crucial en el asesoramiento clínico, el consejo genético-familiar y la anticipación pronóstica, así como en la realización o evitación de estudios complementarios y en el diseño del plan terapéutico.
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Trastorno por Déficit de Atención con Hiperactividad , Trastornos del Neurodesarrollo , Humanos , Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Trastorno por Déficit de Atención con Hiperactividad/genética , Proyectos de Investigación , Predisposición Genética a la EnfermedadRESUMEN
Tatton-Brown-Rahman syndrome (TBRS) or DNMT3A-overgrowth syndrome is characterized by overgrowth and intellectual disability associated with minor dysmorphic features, obesity, and behavioral problems. It is caused by variants of the DNMT3A gene. We report four patients with this syndrome due to de novo DNMT3A pathogenic variants, contributing to a deeper understanding of the genetic basis and pathophysiology of this autosomal dominant syndrome. Clinical and magnetic resonance imaging assessments were also performed. All patients showed corpus callosum anomalies, small posterior fossa, and a deep left Sylvian fissure; as well as asymmetry of the uncinate and arcuate fascicles and marked increased cortical thickness. These results suggest that structural neuroimaging anomalies have been previously overlooked, where corpus callosum and brain tract alterations might be unrecognized neuroimaging traits of TBRS syndrome caused by DNMT3A variants.
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Anomalías Múltiples , Discapacidad Intelectual , Anomalías Musculoesqueléticas , Humanos , Discapacidad Intelectual/diagnóstico por imagen , Discapacidad Intelectual/genética , ADN (Citosina-5-)-Metiltransferasas/genética , ADN Metiltransferasa 3A , Anomalías Múltiples/genética , Anomalías Musculoesqueléticas/complicaciones , Síndrome , NeuroimagenRESUMEN
In recent years, assumptions about the existence of a single construct of happiness that accounts for all positive emotions have been questioned. Instead, several discrete positive emotions with their own neurobiological and psychological mechanisms have been proposed. Of note, the effects of positive emotions on language processing are not yet properly understood. Here we provide a database for a large set of 9000 Spanish words scored by 3437 participants in the positive emotions of awe, contentment, amusement, excitement, serenity, relief, and pleasure. We also report significant correlations between discrete positive emotions and several affective (e.g., valence, arousal, happiness, negative discrete emotions) and lexico-semantic (e.g., frequency of use, familiarity, concreteness, age of acquisition) characteristics of words. Finally, we analyze differences between words conveying a single emotion ("pure" emotion words) and those denoting more than one emotion ("mixed" emotion words). This study will provide researchers a rich source of information to do research that contributes to expanding the current knowledge on the role of positive emotions in language. The norms are available at https://doi.org/10.6084/m9.figshare.21533571.v2.
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Mindfulness-based interventions (MBIs) in the school context are increasingly widespread worldwide. The present study evaluates the effectiveness of a school-MBI (GrowingUp Breathing program) on children's socio-emotional and academic development. Three hundred thirteen elementary students from 7 to 12 years old from two schools in Madrid (Spain) participated. A cluster-randomized control trial was designed, assigning eight classrooms to the MBI-group (N = 155) and eight classrooms to the waiting-list control group (N = 158). Measures were evaluated at pre- and post-intervention in both groups and a 3-month follow-up was collected in the MBI-group. Children self-reported their mindfulness skills (i.e., dispositional mindfulness and psychological inflexibility) and well-being (i.e., anxiety and life satisfaction) and teachers evaluated children's social-emotional competence (i.e., emotion regulation, peer-relationship problems, and prosociality), well-being (i.e., emotional symptoms), and academic competence (i.e., student engagement and academic achievement). Mindfulness skills and emotional regulation were examined as potential mediators. Results revealed that children who received the MBI, compared to children in the WLC-group, improved their mindfulness skills, emotion regulation, prosociality, and emotional and behavioral engagement and decreased anxiety and peer-relationship problems. Positive changes in dispositional mindfulness led to reductions in children's anxiety and psychological inflexibility. Positive changes in emotional regulation led to improvements in prosociality and student engagement and decreased peer-relationships problems and emotional symptoms. Therefore, the results showed that a brief-MBI integrated in the Spanish regular school curriculum enhanced children's socio-emotional and academic development. Dispositional mindfulness and emotion regulation work as processes of change that underlie the intervention's impact.
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Atención Plena , Humanos , Niño , Atención Plena/educación , Emociones , Instituciones Académicas , Ansiedad , Habilidades SocialesRESUMEN
Interest in the applications of mindfulness practice in education is growing in the scientific community. Recent research has shown that mindfulness practice in schools may be beneficial for executive functions (EFs) which are abilities crucial for healthy development. The study of the effects of mindfulness practices on children's neural correlates of EFs, particularly inhibitory control, may provide relevant information about the impact and mechanisms of mindfulness-based interventions (MBIs) in children. The aim of the present study was to investigate the effects of a MBI in elementary school children on the neural correlates of inhibitory control via a randomized controlled trial. Children from two 4th grade classrooms and two 5th grade classrooms located in a school identified as having low socioeconomic status in Santiago de Chile were randomly assigned to either receive a MBI or serve as active controls and receive a social skills program. Both before and after the interventions, electroencephalographic activity was recorded during a modified version of the Go/Nogo task in a subsample of children in each group. Additionally, teachers completed questionnaires of students' EFs and students completed self-report measures. Results revealed increases in EFs assessed by questionnaires together with improved P3 amplitude associated with successful response inhibition in children who received the MBI compared to active controls. These results contribute to the understanding of the ways in which mindfulness practices can promote the development of inhibitory control together with EF improvement, factors identified as critical for children's social and emotional development and positive mental health. RESEARCH HIGHLIGHTS: This study investigated the effects of a mindfulness-based intervention in children from a low socioeconomic status school on neural correlates of EFs. Children performed a Go/Nogo task while electroencephalographic activity was recorded and completed questionnaires before and after a MBI or an active control program. Improvements in EFs assessed by questionnaires together with an increased Nogo-P3 activity associated with successful inhibition in children who received the MBI were found. The results could contribute to understand how mindfulness practice can promote the development of inhibitory control in children from vulnerable populations.
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Atención Plena , Humanos , Niño , Emociones , Instituciones Académicas , Salud Mental , Encuestas y CuestionariosRESUMEN
Resumen Más allá de la frecuente coexistencia del trastorno por déficit de atención con hiperactividad (TDAH) y el trastorno específico del aprendizaje de la lectura, la presente revisión pretende examinar la evidencia empírica disponible sobre cómo el TDAH impacta negativamente sobre el aprendizaje de la lectura. Los datos existentes apuntan a que la presencia del trastorno (especialmente los síntomas de falta de atención), puede afectar a i) la correcta adquisición de lectura, ya sea de manera directa o a través de su influencia sobre los precursores de la lectura; ii) las propias habilidades de decodificación (precisión y fluidez lectora), tanto de manera directa como indirecta a través de su influencia sobre procesos cognitivos como la distracción o las funciones ejecutivas; y ii) la comprensión lectora, probablemente de manera indirecta por las dificultades eje cutivas y en la memoria de trabajo verbal características del TDAH. Estas conclusiones presentan importantes implicaciones para caracterizar e intervenir mejor sobre las dificultades lectoras en el TDAH, ya sean clínicas o subclínicas.
Abstract Beyond the frequent coexistence of attention deficit hyperactivity disorder (ADHD) and reading dis order (dyslexia), the present review aims to examine the available empirical evidence on how ADHD negatively impacts on learning to read. Existing data suggest that the presence of the disorder (especially inattention symp toms), may affect i) the correct acquisition of reading, either directly or through its influence on the precursors to reading; ii) decoding skills themselves (reading accuracy and fluency), both directly and indirectly through its influence on cognitive processes such as distractibility or executive functions; and iii) reading comprehension, probably indirectly through the executive and verbal memory difficulties characteristic of ADHD. These findings have important implications for better characterizing and intervening on reading difficulties in ADHD, whether clinical or subclinical.
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Beyond the frequent coexistence of attention deficit hyperactivity disorder (ADHD) and reading disorder (dyslexia), the present review aims to examine the available empirical evidence on how ADHD negatively impacts on learning to read. Existing data suggest that the presence of the disorder (especially inattention symptoms), may affect i) the correct acquisition of reading, either directly or through its influence on the precursors to reading; ii) decoding skills themselves (reading accuracy and fluency), both directly and indirectly through its influence on cognitive processes such as distractibility or executive functions; and iii) reading comprehension, probably indirectly through the executive and verbal memory difficulties characteristic of ADHD. These findings have important implications for better characterizing and intervening on reading difficulties in ADHD, whether clinical or subclinical.
Más allá de la frecuente coexistencia del trastorno por déficit de atención con hiperactividad (TDAH) y el trastorno específico del aprendizaje de la lectura, la presente revisión pretende examinar la evidencia empírica disponible sobre cómo el TDAH impacta negativamente sobre el aprendizaje de la lectura. Los datos existentes apuntan a que la presencia del trastorno (especialmente los síntomas de falta de atención), puede afectar a i) la correcta adquisición de lectura, ya sea de manera directa o a través de su influencia sobre los precursores de la lectura; ii) las propias habilidades de decodificación (precisión y fluidez lectora), tanto de manera directa como indirecta a través de su influencia sobre procesos cognitivos como la distracción o las funciones ejecutivas; y ii) la comprensión lectora, probablemente de manera indirecta por las dificultades ejecutivas y en la memoria de trabajo verbal características del TDAH. Estas conclusiones presentan importantes implicaciones para caracterizar e intervenir mejor sobre las dificultades lectoras en el TDAH, ya sean clínicas o subclínicas.
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Trastorno por Déficit de Atención con Hiperactividad , Dislexia , Humanos , Trastorno por Déficit de Atención con Hiperactividad/complicaciones , Comprensión , Aprendizaje , Cognición , Función Ejecutiva , Dislexia/complicaciones , Dislexia/psicologíaRESUMEN
Bi-allelic mutations in the TUBGCP4 gene have been recently associated with autosomal recessive microcephaly with chorioretinopathy. However, little is known about the genotype-phenotype characteristics of this disorder. Here, we describe a 5-year-old male patient with autism and a normal occipitofrontal circumference. No retinal abnormalities were observed. Brain MRI revealed the presence of enlarged sheaths of both tortuous optic nerves; both eyes had shorter axial lengths. Whole-exome sequencing in trio revealed synonymous TUBGCP4 variants in homozygous state: c.1746G>T; p.Leu582=. This synonymous variant has been previously described and probably leads to skipping of exon 16 of TUBGCP4. These results broaden the clinical spectrum of this new syndrome and suggest that TUBGCP4 bi-allelic mutations may underlie complex neurodevelopmental disorders.
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Alpha-band oscillations (8-14 Hz) are essential for attention and perception processes by facilitating the selection of relevant information. Directing visuospatial endogenous (voluntary) attention to a given location consistently results in a power suppression of alpha activity over occipito-parietal areas contralateral to the attended visual field. In contrast, the neural oscillatory dynamics underlying the involuntary capture of attention, or exogenous attention, are currently under debate. By exploiting the inherent capacity of emotionally salient visual stimuli to capture attention, we aimed to investigate whether exogenous attention is characterized by either a reduction or an increase in alpha-band activity. Electroencephalographic activity was recorded while participants completed a Posner visuospatial cueing task, in which a lateralized image with either positive, negative, or neutral emotional content competed with a target stimulus presented in the opposite hemifield. Compared with trials with no distractors, alpha power was reduced over occipital regions contralateral to distracting images. This reduction of alpha activity turned out to be functionally relevant, as it correlated with impaired behavioral performance on the ongoing task and was enhanced for distractors with negative valence. Taken together, our results demonstrate that visuospatial exogenous attention is characterized by a suppression of alpha-band activity contralateral to distractor location, similar to the oscillatory underpinnings of endogenous attention. Further, these results highlight the key role of exogenous attention as an adaptive mechanism for the efficient detection of biologically salient stimuli.
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Ritmo alfa , Electroencefalografía , Señales (Psicología) , Electroencefalografía/métodos , Humanos , Lóbulo Occipital , Estimulación Luminosa/métodos , Campos Visuales , Percepción VisualRESUMEN
. COL18A1 gene mutations have been associated with Knobloch syndrome, which is characterized by ocular and brain abnormalities. Here we report a 4.5 years-old male child with autism and two novel COL18A1 mutations (NM_030582.4: c.1883_1891dup and c.1787C>T). Hypermetropic astigmatism, but not brain migration disorders, was observed. However, an asymmetric pattern of cerebellar perfusion and a smaller arcuate fascicle were found. Low levels of collagen XVIII were also observed in the patient´s serum. Thus, biallelic loss-of-function mutations in COL18A1 may be a new cause of autism without the brain malformations typically reported in patients with Knobloch syndrome.
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Colágeno Tipo XVIII , Endostatinas , Cerebelo , Preescolar , Colágeno Tipo XVIII/genética , Encefalocele , Endostatinas/genética , Humanos , Masculino , Mutación , Neuroimagen , Degeneración Retiniana , Desprendimiento de Retina/congénitoRESUMEN
Resumen Este estudio pretende contribuir a una mejor comprensión del trastorno por déficit de atención con hiperactividad (TDAH) examinado de manera exhaustiva la relación entre dos de los principales déficits cognitivos del trastorno (la atención y el control inhibitorio), la sintomatología (falta de atención e hipe ractividad/impulsividad) y la repercusión funcional en 85 niños/as y adolescentes con TDAH sin otros trastornos comórbidos. Encontramos, con independencia del funcionamiento intelectual general y de la edad, que i) un mayor déficit atencional e inhibitorio, predijo una mayor gravedad de los síntomas del TDAH, ii) un mayor déficit atencional e inhibitorio predijo un mayor deterioro funcional, pero no de una manera directa sino a través de los síntomas, y iii) una mayor severidad sintomática predijo una mayor repercusión funcional. Comenzar a explorar y comprender la complejidad del TDAH es clave para avanzar en nuestro conocimiento del trastorno y para la correcta toma de decisiones clínicas.
Abstract This study aims to contribute to a better understanding of at tention deficit hyperactivity disorder (ADHD) by comprehensively examining the relationship between two of the main cognitive deficits of the disorder (attention and inhibitory control), symptomatology (inattention and hyperactivity/impulsivity) and functional impairment in 85 children and adolescents with ADHD without other comorbid disorders. We found, independent of general intellectual functioning and age, that i) greater atten tional and inhibitory deficits predicted greater severity of ADHD symptoms, ii) greater attentional and inhibitory deficits predicted greater functional impairment, but not in a direct way but through symptoms, and iii) greater symptomatic severity predicted greater functional impairment. Beginning to explore and understand the com plexity of ADHD is key to advance our knowledge of the disorder and for correct clinical decision making.
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This study aims to contribute to a better understanding of attention deficit hyperactivity disorder (ADHD) by comprehensively examining the relationship between two of the main cognitive deficits of the disorder (attention and inhibitory control), symptomatology (inattention and hyperactivity/impulsivity) and functional impairment in 85 children and adolescents with ADHD without other comorbid disorders. We found, independent of general intellectual functioning and age, that i) greater attentional and inhibitory deficits predicted greater severity of ADHD symptoms, ii) greater attentional and inhibitory deficits predicted greater functional impairment, but not in a direct way but through symptoms, and iii) greater symptomatic severity predicted greater functional impairment. Beginning to explore and understand the complexity of ADHD is key to advance our knowledge of the disorder and for correct clinical decision making.
Este estudio pretende contribuir a una mejor comprensión del trastorno por déficit de atención con hiperactividad (TDAH) examinado de manera exhaustiva la relación entre dos de los principales déficits cognitivos del trastorno (la atención y el control inhibitorio), la sintomatología (falta de atención e hiperactividad / impulsividad) y la repercusión funcional en 85 niños/as y adolescentes con TDAH sin otros trastornos comórbidos. Encontramos, con independencia del funcionamiento intelectual general y de la edad, que i) un mayor déficit atencional e inhibitorio, predijo una mayor gravedad de los síntomas del TDAH, ii) un mayor déficit atencional e inhibitorio predijo un mayor deterioro funcional, pero no de una manera directa sino a través de los síntomas, y iii) una mayor severidad sintomática predijo una mayor repercusión funcional. Comenzar a explorar y comprender la complejidad del TDAH es clave para avanzar en nuestro conocimiento del trastorno y para la correcta toma de decisiones clínicas.
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Trastorno por Déficit de Atención con Hiperactividad , Trastornos del Conocimiento , Disfunción Cognitiva , Adolescente , Niño , Cognición , Disfunción Cognitiva/diagnóstico , HumanosRESUMEN
Although progress has been made in elucidating the behavioral and neural development of global stopping across the lifespan, little is known about the development of selective stopping. This more complex form of inhibitory control is required in real-world situations where ongoing responses must be inhibited to certain stimuli but not others, and can be assessed in laboratory settings using a stimulus selective stopping task. Here we used this task to investigate the qualitative and quantitative developmental changes in selective stopping in a large-scale cross-sectional study with three different age groups (children, preadolescents, and young adults). We found that the ability to stop a response selectively to some stimuli (i.e., use a selective strategy) rather than non-selectively to all presented stimuli (i.e., use a global, non-selective strategy) is fully mature by early preadolescence, and remains stable afterwards at least until young adulthood. By contrast, the efficiency or speed of stopping (indexed by a shorter stop-signal reaction time or SSRT) continues to mature throughout adolescence until young adulthood, both for global and selective implementations of stopping. We also provide some preliminary findings regarding which other task variables beyond the strategy and SSRT predicted age group status. Premature responding (an index of "waiting impulsivity") and post-ignore slowing (an index of cognitive control) were among the most relevant predictors in discriminating between developmental age groups. Although present results need to be confirmed and extended in longitudinal studies, they provide new insights into the development of a relevant form of inhibitory control.
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Conducta Impulsiva , Inhibición Psicológica , Adolescente , Adulto , Niño , Estudios Transversales , Humanos , Tiempo de Reacción/fisiología , Adulto JovenRESUMEN
Mutations in the PQBP1 gene are associated with Renpenning syndrome (RENS1, MIM# 309500). Most cases are characterized by intellectual disability, but a detailed neuropsychological profile has not yet been established. The present case study of a 8.5 years-old male child with a missense novel mutation in the PQBP1 gene expands existing understanding of this syndrome by presenting a milder clinical and neuropsychological phenotype. Whole exome trio analysis sequencing revealed a maternally inherited PQBP1 missense mutation in chromosome X [NM_001032383.1, c.727C > T (p.Arg243Trp)]. Variant functional studies demonstrated a significant reduction in the interaction between PQBP1 and the component of the nuclear pre-mRNA splicing machinery, U5-15KD. A comprehensive neuropsychological assessment revealed marked deficits in processing speed, attention and executive functioning (including planning, inhibitory control and working memory) without intellectual disability. Several components of language processing were also impaired. These results support that this mutation partially disrupts the function of this gene, which is known to play critical roles in embryonic and neural development. As most of the genomic PQBP1 abnormalities associated with intellectual disability have been found to be loss-of-function mutations, we hypothesize that a partial loss-of-function of this variant is associated with a mild behavioral and neuropsychological phenotype.
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Discapacidad Intelectual , Mutación Missense , Proteínas Portadoras/genética , Parálisis Cerebral , Proteínas de Unión al ADN/genética , Humanos , Discapacidad Intelectual/genética , Masculino , Herencia Materna , Discapacidad Intelectual Ligada al Cromosoma X , Proteínas Nucleares/genética , Fenotipo , Precursores del ARNRESUMEN
KBG syndrome is characterized by dental, craniofacial and skeletal anomalies, short stature and global developmental delay or intellectual disability. It is caused by microdeletions or truncating mutations of ANKRD11. We report four unrelated probands with this syndrome due to de novo ANKRD11 aberrations that may contribute to a better understanding of the genetics and pathophysiology of this autosomal dominant syndrome. Clinical, cognitive and MRI assessments were performed. Three of the patients showed normal intellectual functioning, whereas the fourth had a borderline level of intellectual functioning. However, all of them showed deficits in various cognitive and socioemotional processes such as attention, executive functions, empathy or pragmatic language. Moreover, all probands displayed marked asymmetry of the uncinate fascicles and an abnormal gyrification pattern in the left frontal lobe. Thus, structural neuroimaging anomalies seem to have been overlooked in this syndrome. Disturbed frontal gyrification and/or lower structural integrity of the uncinate fascisulus might be unrecognized neuroimaging features of KBG syndrome caused by ANKRD11 aberrations. Present results also point out that this syndrome is not necessarily associated with global developmental delay and intellectual disability, but it can be related to other neurodevelopmental disorders or subclinical levels of attention-deficit hyperactivity disorder, autism, communication disorders or specific learning disabilities.
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Anomalías Múltiples , Enfermedades del Desarrollo Óseo , Discapacidad Intelectual , Proteínas Represoras , Anomalías Dentarias , Anomalías Múltiples/diagnóstico por imagen , Anomalías Múltiples/genética , Enfermedades del Desarrollo Óseo/diagnóstico por imagen , Enfermedades del Desarrollo Óseo/genética , Facies , Humanos , Discapacidad Intelectual/diagnóstico por imagen , Discapacidad Intelectual/genética , Fenotipo , Proteínas Represoras/genética , Anomalías Dentarias/diagnóstico por imagen , Anomalías Dentarias/genéticaRESUMEN
The main aim of this study was to investigate the development of selective inhibitory control in middle childhood, a critical period for the maturation of inhibition-related processes. To this end, 64 children aged 6-7 and 56 children aged 10-11 performed a stimulus-selective stop-signal task, which allowed us to estimate not only the efficiency of response inhibition (the stop-signal reaction time or SSRT), but also the strategy adopted by participants to achieve task demands. We found that the adoption of a non-selective (global) strategy characterized by stopping indiscriminately to all stimuli decreased in older children, so that most of them were able to interrupt their ongoing responses selectively at the end of middle childhood. Moreover, compared to younger children, older children were more efficient in their ability to cancel an initiated response (indexed by a shorter SSRT), regardless of which strategy they used. Additionally, we found improvements in other forms of impulsivity, such as the control of premature responding (waiting impulsivity), and attentional-related processes, such as intra-individual variability and distractibility. The present results suggest that middle childhood represents a milestone in the development of crucial aspects of inhibitory control, including selective stopping.
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Conducta Impulsiva , Inhibición Psicológica , Adolescente , Atención , Niño , Cognición , Humanos , Desempeño Psicomotor , Tiempo de ReacciónRESUMEN
Prior reports suggest that affective effects in visual word processing cannot be fully explained by a dimensional perspective of emotions based on valence and arousal. In the current study, we focused on the contribution of approach and avoidance motivational systems that are related to different action components to the processing of emotional words. To this aim, we compared frontal alpha asymmetries and brain oscillations elicited by anger words associated with approach (fighting) motivational tendencies, and fear words that may trigger either avoidance (escaping), approach (fighting) or no (freezing) action tendencies. The participants' task was to make decisions about approaching or distancing from the concepts represented by words. The results of cluster-based and beamforming analyses revealed increased gamma power band synchronization for fear words relative to anger words between 725 and 750 ms, with an estimated neural origin in the temporal pole. These findings were interpreted to reflect a conflict between different action tendencies underlying the representation of fear words in semantic and emotional memories, when trying to achieve task requirements. These results are in line with the predictions made by the fear-hinders-action hypothesis. Additionally, current data highlights the contribution of motivational features to the representation and processing of emotional words.
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Selective stopping is demanded in situations where responses must be suppressed to certain signals, but not others. To explore this type of inhibition, the standard stop-signal task has been modified to include a selective implementation of response inhibition by introducing a new stimulus that participants should ignore. However, a stimulus-selective stop-signal task can be performed following different strategies. Some participants fulfill the selective implementation of the stopping process after discriminating the stop and ignore signals, but some others stop the ongoing response whenever any new stimulus appears. The factors that influence this strategy choice are being explored, where both task and participant variables are under consideration. This study aimed to investigate whether the difficulty in discriminating between stop and ignore signals influences strategy adoption. Additionally, we examined whether participants modify their strategy in a flexible manner throughout the task in alternating easy and hard discrimination condition blocks. In the easy discrimination condition, the stop and the ignore signals differed both in color and shape, whereas in the hard discrimination condition, they only differed in shape. Our results from 64 participants revealed that manipulating the difficulty of signal discrimination strongly influenced strategy choice. Also, we found that participants can adapt their strategy according to task demands. They preferentially adopted a selective stopping strategy when discrimination was easy, whereas they changed to a nonselective stopping strategy under the hard discrimination condition. Overall, results from the current study suggest that signal discrimination difficulty influences the adoption of strategies in selective stopping.