Frontostriatal networks play critical roles in grounding action semantics and syntactic skills. I... more Frontostriatal networks play critical roles in grounding action semantics and syntactic skills. Indeed, their atrophy distinctively disrupts both domains, as observed in patients with Huntington's disease (HD) and Parkinson's disease, even during early disease stages. However, frontostriatal degeneration in these conditions may begin up to 15 years before the onset of clinical symptoms, opening avenues for pre-clinical detection via sensitive tasks. Such a mission is particularly critical in HD, given that patients' children have 50% chances of inheriting the disease. Against this background, we assessed whether deficits in the above-mentioned domains emerge in subjects at risk to develop HD. We administered tasks tapping action semantics, object semantics, and two forms of syntactic processing to 18 patients with HD, 19 asymptomatic first-degree relatives, and sociodemographically matched controls for each group. The patients evinced significant deficits in all tasks, but only those in the two target domains were independent of overall cognitive state. More crucially, relative to controls, the asymptomatic relatives were selectively impaired in action semantics and in the more complex syntactic task, with both patterns emerging irrespective of the subjects' overall cognitive state. Our findings highlight the relevance of these dysfunctions as potential prodromal biomarkers of HD. Moreover, they offer theoretical insights into the differential contributions of frontostriatal hubs to both domains while paving the way for innovations in diagnostic procedures.
Background: Adults with bipolar disorder (BD) have cognitive impairments that affect face process... more Background: Adults with bipolar disorder (BD) have cognitive impairments that affect face processing and social cognition. However, it remains unknown whether these deficits in euthymic BD have impaired brain markers of emotional processing.
As shown by the Office of the United Nations High Commissioner for Human Rights, terrorism is one... more As shown by the Office of the United Nations High Commissioner for Human Rights, terrorism is one of the most pernicious threats to contemporary societies 1. In addition to obliterating the freedom and physical integrity of victims, terrorist practices can destabilize governments, undermine civil harmony and threaten economic development 1. This is tragically corroborated by the recent history of Colombia, a country marked by escalations of paramilitary terrorist violence 2. Although multiple disciplines are struggling to understand these atrocities, the contributions from cognitive science have been limited. Social cognition abilities 3–7 have been proposed as important variables in relation to criminal and violent profiles. Against this background, this study aimed to assess the moral judgements and social-cognitive profiles of 66 ex-combatants from a paramilitary terrorist group. We found that moral judgement in terrorists is abnormally guided by outcomes rather than by the integration of intentions and outcomes. This pattern was partially related to emotion recognition and proactive aggression scores but independent from other cognitive domains. In addition, moral judgement was the measure that best discriminated between terrorists and non-criminals.
Lack of empathy and emotional disturbances are prominent clinical features of Huntington's diseas... more Lack of empathy and emotional disturbances are prominent clinical features of Huntington's disease (HD). While emotion recognition impairments in HD patients are well established, there are no experimental designs assessing empathy in this population. The present study seeks to cover such a gap in the literature. Eighteen manifest HD patients, 19 first-degree asymptomatic relatives, and 36 healthy control participants completed two emotion-recognition tasks with different levels of contextual dependence. They were also evaluated with an empathy-for-pain task tapping the perception of intentional and accidental harm. Moreover, we explored potential associations among empathy, emotion recognition , and other relevant factors – e.g., executive functions (EF). The results showed that both HD patients and asymptomatic relatives are impaired in the recognition of negative emotions from isolated faces. However, their performance in emotion recognition was normal in the presence of contextual cues. HD patients also showed subtle empathy impairments. There were no significant correlations between EF, empathy, and emotion recognition measures in either HD patients or relatives. In controls, EF was positively correlated with emotion recognition. Furthermore, emotion recognition was positively correlated with the performance in the empathy task. Our findings highlight the preserved cognitive abilities in HD families when using more ecological tasks displaying emotional expressions in the context in which they typically appear. Moreover, our results suggest that emotion recognition impairments may constitute a potential biomarker of HD onset and progression. These results contribute to the understanding of emotion recognition and empathy deficits observed in HD and have important theoretical and clinical implications.
Emotion recognition and empathy abilities require the integration of contextual information in re... more Emotion recognition and empathy abilities require the integration of contextual information in real-life scenarios. Previous reports have explored these domains in adolescent offenders (AOs) but have not used tasks that replicate everyday situations. In this study we included ecological measures with different levels of contextual dependence to evaluate emotion recognition and empathy in AOs relative to non-offenders, controlling for the effect of demographic variables. We also explored the influence of fluid intelligence (FI) and executive functions (EFs) in the prediction of relevant deficits in these domains. Our results showed that AOs exhibit deficits in context-sensitive measures of emotion recognition and cognitive empathy. Difficulties in these tasks were neither explained by demographic variables nor predicted by FI or EFs. However, performance on measures that included simpler stimuli or could be solved by explicit knowledge was either only partially affected by demographic variables or preserved in AOs. These findings indicate that AOs show contextual social-cognition impairments which are relatively independent of basic cognitive functioning and demographic variables.
In this study, we report an unusual case of mutidimensional sensorimotor, cognitive, and socio-af... more In this study, we report an unusual case of mutidimensional sensorimotor, cognitive, and socio-affective preservation in an adult with extensive, acquired bilateral brain damage. At age 43, patient CG sustained a cerebral hemorrhage and a few months later, she suffered a second (ischemic) stroke. As a result, she exhibited extensive damage of the right hemisphere (including frontal, temporal, parietal, and occipital regions), left Sylvian and striatal areas, bilateral portions of the insula and the amygdala, and the splenium. However, against all probability, she was unimpaired across a host of cognitive domains, including executive functions, attention, memory, language, sensory perception (e.g., taste recognition and intensity discrimination), emotional processing (e.g., experiencing of positive and negative emotions), and social cognition skills (prosody recognition, theory of mind, facial emotion recognition, and emotional evaluation). Her functional integrity was further confirmed through neurological examination and contextualized observation of her performance in real-life tasks. In sum, CG's case resists straightforward classifications, as the extent and distribution of her lesions would typically produce pervasive, multidimensional deficits. We discuss the rarity of this patient against the backdrop of other reports of atypical cognitive preservation, expound the limitations of several potential accounts, and highlight the challenges that the case poses for current theories of brain organization and resilience.
Traditionally, Huntington's disease (HD) has been known as a movement disorder, characterized by ... more Traditionally, Huntington's disease (HD) has been known as a movement disorder, characterized by motor, psychiatric, and cognitive impairments. Recent studies have shown that motor and action–language processes are neurally associated. The cognitive mechanisms underlying this interaction have been investigated through the action compatibility effect (ACE) paradigm, which induces a contextual coupling of ongoing motor actions and verbal processing. The present study is the first to use the ACE paradigm to evaluate action– word processing in HD patients (HDP) and their families. Specifically, we tested three groups: HDP, healthy first-degree relatives (HDR), and non-relative healthy controls. The results showed that ACE was abolished in HDP as well as HDR, but not in controls. Furthermore , we found that the processing deficits were primarily linguistic, given that they did not correlate executive function measurements. Our overall results underscore the role of cortico-basal ganglia circuits in action–word processing and indicate that the ACE task is a sensitive and robust early biomarker of HD and familial vulnerability.
Cockayne syndrome (CS) is an autosomal recessive disease associated with premature aging, progres... more Cockayne syndrome (CS) is an autosomal recessive disease associated with premature aging, progressive multiorgan degeneration, and nervous system abnormalities including cerebral and cerebellar atrophy, brain calcifications, and white matter abnormalities. Although several clinical descriptions of CS patients have reported developmental delay and cognitive impairment with relative preservation of social skills, no previous studies have carried out a comprehensive neuropsychological and social cognition assessment. Furthermore, no previous research in individuals with CS has examined the relationship between brain atrophy and performance on neuropsychological and social cognition tests. This study describes the case of an atypical late-onset type III CS patient who exceeds the mean life expectancy of individuals with this pathology. The patient and a group of healthy controls underwent a comprehensive assessment that included multiple neuropsycho-logical and social cognition (emotion recognition, theory of mind, and empathy) tasks. In addition, we compared the pattern of atrophy in the patient to controls and to its concordance with ERCC8 gene expression in a healthy brain. The results showed memory, language, and executive deficits that contrast with the relative preservation of social cog-nition skills. The cognitive profile of the patient was consistent with his pattern of global cerebral and cerebellar loss of gray matter volume (frontal structures, bilateral cerebellum, basal ganglia, temporal lobe, and occipito-temporal/occipito-parietal regions), which in turn was anatomically consistent with the ERCC8 gene expression level in a healthy donor's brain. The study of exceptional cases, such as the one described here, is fundamental to elucidating the processes that affect the brain in premature aging diseases, and such studies provide an important source of information for understanding the problems associated with normal and pathological aging.
Previous studies have reported facial emotion recognition impairments in schizophrenic patients, ... more Previous studies have reported facial emotion recognition impairments in schizophrenic patients, as well as abnormalities in the N170 component of the event-related potential. Current research on schizophrenia highlights the importance of complexly-inherited brain-based deficits. In order to examine the N170 markers of face structural and emotional processing, DSM-IV diagnosed schizophrenia probands (n = 13), unaffected first-degree relatives from multiplex families (n = 13), and control subjects (n = 13) matched by age, gender and educational level, performed a categorization task which involved words and faces with positive and negative valence. The N170 component, while present in relatives and control subjects, was reduced in patients, not only for faces, but also for face–word differences, suggesting a deficit in structural processing of stimuli. Control subjects showed N170 modulation according to the valence of facial stimuli. However, this discrimination effect was found to be reduced both in patients and relatives. This is the first report showing N170 valence deficits in relatives. Our results suggest a generalized deficit affecting the structural encoding of faces in patients, as well as the emotion discrimination both in patients and relatives. Finally, these findings lend support to the notion that cortical markers of facial discrimination can be validly considered as vulnerability markers.
Background: The ability to integrate contextual information with social cues to generate social m... more Background: The ability to integrate contextual information with social cues to generate social meaning is a key aspect of social cognition. It is widely accepted that patients with schizophrenia and bipolar disorders have deficits in social cognition; however, previous studies on these disorders did not use tasks that replicate everyday situations.
Frontostriatal networks play critical roles in grounding action semantics and syntactic skills. I... more Frontostriatal networks play critical roles in grounding action semantics and syntactic skills. Indeed, their atrophy distinctively disrupts both domains, as observed in patients with Huntington's disease (HD) and Parkinson's disease, even during early disease stages. However, frontostriatal degeneration in these conditions may begin up to 15 years before the onset of clinical symptoms, opening avenues for pre-clinical detection via sensitive tasks. Such a mission is particularly critical in HD, given that patients' children have 50% chances of inheriting the disease. Against this background, we assessed whether deficits in the above-mentioned domains emerge in subjects at risk to develop HD. We administered tasks tapping action semantics, object semantics, and two forms of syntactic processing to 18 patients with HD, 19 asymptomatic first-degree relatives, and sociodemographically matched controls for each group. The patients evinced significant deficits in all tasks, but only those in the two target domains were independent of overall cognitive state. More crucially, relative to controls, the asymptomatic relatives were selectively impaired in action semantics and in the more complex syntactic task, with both patterns emerging irrespective of the subjects' overall cognitive state. Our findings highlight the relevance of these dysfunctions as potential prodromal biomarkers of HD. Moreover, they offer theoretical insights into the differential contributions of frontostriatal hubs to both domains while paving the way for innovations in diagnostic procedures.
Background: Adults with bipolar disorder (BD) have cognitive impairments that affect face process... more Background: Adults with bipolar disorder (BD) have cognitive impairments that affect face processing and social cognition. However, it remains unknown whether these deficits in euthymic BD have impaired brain markers of emotional processing.
As shown by the Office of the United Nations High Commissioner for Human Rights, terrorism is one... more As shown by the Office of the United Nations High Commissioner for Human Rights, terrorism is one of the most pernicious threats to contemporary societies 1. In addition to obliterating the freedom and physical integrity of victims, terrorist practices can destabilize governments, undermine civil harmony and threaten economic development 1. This is tragically corroborated by the recent history of Colombia, a country marked by escalations of paramilitary terrorist violence 2. Although multiple disciplines are struggling to understand these atrocities, the contributions from cognitive science have been limited. Social cognition abilities 3–7 have been proposed as important variables in relation to criminal and violent profiles. Against this background, this study aimed to assess the moral judgements and social-cognitive profiles of 66 ex-combatants from a paramilitary terrorist group. We found that moral judgement in terrorists is abnormally guided by outcomes rather than by the integration of intentions and outcomes. This pattern was partially related to emotion recognition and proactive aggression scores but independent from other cognitive domains. In addition, moral judgement was the measure that best discriminated between terrorists and non-criminals.
Lack of empathy and emotional disturbances are prominent clinical features of Huntington's diseas... more Lack of empathy and emotional disturbances are prominent clinical features of Huntington's disease (HD). While emotion recognition impairments in HD patients are well established, there are no experimental designs assessing empathy in this population. The present study seeks to cover such a gap in the literature. Eighteen manifest HD patients, 19 first-degree asymptomatic relatives, and 36 healthy control participants completed two emotion-recognition tasks with different levels of contextual dependence. They were also evaluated with an empathy-for-pain task tapping the perception of intentional and accidental harm. Moreover, we explored potential associations among empathy, emotion recognition , and other relevant factors – e.g., executive functions (EF). The results showed that both HD patients and asymptomatic relatives are impaired in the recognition of negative emotions from isolated faces. However, their performance in emotion recognition was normal in the presence of contextual cues. HD patients also showed subtle empathy impairments. There were no significant correlations between EF, empathy, and emotion recognition measures in either HD patients or relatives. In controls, EF was positively correlated with emotion recognition. Furthermore, emotion recognition was positively correlated with the performance in the empathy task. Our findings highlight the preserved cognitive abilities in HD families when using more ecological tasks displaying emotional expressions in the context in which they typically appear. Moreover, our results suggest that emotion recognition impairments may constitute a potential biomarker of HD onset and progression. These results contribute to the understanding of emotion recognition and empathy deficits observed in HD and have important theoretical and clinical implications.
Emotion recognition and empathy abilities require the integration of contextual information in re... more Emotion recognition and empathy abilities require the integration of contextual information in real-life scenarios. Previous reports have explored these domains in adolescent offenders (AOs) but have not used tasks that replicate everyday situations. In this study we included ecological measures with different levels of contextual dependence to evaluate emotion recognition and empathy in AOs relative to non-offenders, controlling for the effect of demographic variables. We also explored the influence of fluid intelligence (FI) and executive functions (EFs) in the prediction of relevant deficits in these domains. Our results showed that AOs exhibit deficits in context-sensitive measures of emotion recognition and cognitive empathy. Difficulties in these tasks were neither explained by demographic variables nor predicted by FI or EFs. However, performance on measures that included simpler stimuli or could be solved by explicit knowledge was either only partially affected by demographic variables or preserved in AOs. These findings indicate that AOs show contextual social-cognition impairments which are relatively independent of basic cognitive functioning and demographic variables.
In this study, we report an unusual case of mutidimensional sensorimotor, cognitive, and socio-af... more In this study, we report an unusual case of mutidimensional sensorimotor, cognitive, and socio-affective preservation in an adult with extensive, acquired bilateral brain damage. At age 43, patient CG sustained a cerebral hemorrhage and a few months later, she suffered a second (ischemic) stroke. As a result, she exhibited extensive damage of the right hemisphere (including frontal, temporal, parietal, and occipital regions), left Sylvian and striatal areas, bilateral portions of the insula and the amygdala, and the splenium. However, against all probability, she was unimpaired across a host of cognitive domains, including executive functions, attention, memory, language, sensory perception (e.g., taste recognition and intensity discrimination), emotional processing (e.g., experiencing of positive and negative emotions), and social cognition skills (prosody recognition, theory of mind, facial emotion recognition, and emotional evaluation). Her functional integrity was further confirmed through neurological examination and contextualized observation of her performance in real-life tasks. In sum, CG's case resists straightforward classifications, as the extent and distribution of her lesions would typically produce pervasive, multidimensional deficits. We discuss the rarity of this patient against the backdrop of other reports of atypical cognitive preservation, expound the limitations of several potential accounts, and highlight the challenges that the case poses for current theories of brain organization and resilience.
Traditionally, Huntington's disease (HD) has been known as a movement disorder, characterized by ... more Traditionally, Huntington's disease (HD) has been known as a movement disorder, characterized by motor, psychiatric, and cognitive impairments. Recent studies have shown that motor and action–language processes are neurally associated. The cognitive mechanisms underlying this interaction have been investigated through the action compatibility effect (ACE) paradigm, which induces a contextual coupling of ongoing motor actions and verbal processing. The present study is the first to use the ACE paradigm to evaluate action– word processing in HD patients (HDP) and their families. Specifically, we tested three groups: HDP, healthy first-degree relatives (HDR), and non-relative healthy controls. The results showed that ACE was abolished in HDP as well as HDR, but not in controls. Furthermore , we found that the processing deficits were primarily linguistic, given that they did not correlate executive function measurements. Our overall results underscore the role of cortico-basal ganglia circuits in action–word processing and indicate that the ACE task is a sensitive and robust early biomarker of HD and familial vulnerability.
Cockayne syndrome (CS) is an autosomal recessive disease associated with premature aging, progres... more Cockayne syndrome (CS) is an autosomal recessive disease associated with premature aging, progressive multiorgan degeneration, and nervous system abnormalities including cerebral and cerebellar atrophy, brain calcifications, and white matter abnormalities. Although several clinical descriptions of CS patients have reported developmental delay and cognitive impairment with relative preservation of social skills, no previous studies have carried out a comprehensive neuropsychological and social cognition assessment. Furthermore, no previous research in individuals with CS has examined the relationship between brain atrophy and performance on neuropsychological and social cognition tests. This study describes the case of an atypical late-onset type III CS patient who exceeds the mean life expectancy of individuals with this pathology. The patient and a group of healthy controls underwent a comprehensive assessment that included multiple neuropsycho-logical and social cognition (emotion recognition, theory of mind, and empathy) tasks. In addition, we compared the pattern of atrophy in the patient to controls and to its concordance with ERCC8 gene expression in a healthy brain. The results showed memory, language, and executive deficits that contrast with the relative preservation of social cog-nition skills. The cognitive profile of the patient was consistent with his pattern of global cerebral and cerebellar loss of gray matter volume (frontal structures, bilateral cerebellum, basal ganglia, temporal lobe, and occipito-temporal/occipito-parietal regions), which in turn was anatomically consistent with the ERCC8 gene expression level in a healthy donor's brain. The study of exceptional cases, such as the one described here, is fundamental to elucidating the processes that affect the brain in premature aging diseases, and such studies provide an important source of information for understanding the problems associated with normal and pathological aging.
Previous studies have reported facial emotion recognition impairments in schizophrenic patients, ... more Previous studies have reported facial emotion recognition impairments in schizophrenic patients, as well as abnormalities in the N170 component of the event-related potential. Current research on schizophrenia highlights the importance of complexly-inherited brain-based deficits. In order to examine the N170 markers of face structural and emotional processing, DSM-IV diagnosed schizophrenia probands (n = 13), unaffected first-degree relatives from multiplex families (n = 13), and control subjects (n = 13) matched by age, gender and educational level, performed a categorization task which involved words and faces with positive and negative valence. The N170 component, while present in relatives and control subjects, was reduced in patients, not only for faces, but also for face–word differences, suggesting a deficit in structural processing of stimuli. Control subjects showed N170 modulation according to the valence of facial stimuli. However, this discrimination effect was found to be reduced both in patients and relatives. This is the first report showing N170 valence deficits in relatives. Our results suggest a generalized deficit affecting the structural encoding of faces in patients, as well as the emotion discrimination both in patients and relatives. Finally, these findings lend support to the notion that cortical markers of facial discrimination can be validly considered as vulnerability markers.
Background: The ability to integrate contextual information with social cues to generate social m... more Background: The ability to integrate contextual information with social cues to generate social meaning is a key aspect of social cognition. It is widely accepted that patients with schizophrenia and bipolar disorders have deficits in social cognition; however, previous studies on these disorders did not use tasks that replicate everyday situations.
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