Impaired social cognition and fine dexterity in patients with Cowden syndrome associated with germline PTEN variants

PurposeCowden syndrome (CS) is an autosomal dominant disease related to germline PTEN variants and is characterised by multiple hamartomas, increased risk of cancers and frequent brain alteration. Since the behaviour of patients with CS sometimes appears to be inappropriate, we analysed their neuropsychological functioning.MethodsThis monocentric study was conducted between July 2018 and February 2020. A standardised neuropsychological assessment, including an evaluation of social cognition, executive functions, language and dexterity, as well as a cerebral MRI were systematically proposed to all patients with CS. Moreover, PTEN variants were identified.ResultsFifteen patients from 13 families were included, with six non-sense (40%), three missense (20%), five frameshift (33.3%) and one splice site (6.6%) variant types. Twelve patients (80%) had altered social cognition: 10 patients had an abnormal modified Faux-Pas score and 5 had Ekman’s facial emotions recognition impairment. Nearly all patients (93%) had impaired dexterity. Cerebral MRI showed various cerebellar anomalies in seven patients (46.7%).ConclusionAltered social cognition and impaired fine dexterity are frequently associated with CS. Further studies are needed to confirm these results and to determine whether dexterity impairment is due to the effect of germline PTEN variants in the cerebellum.

The Brain Alteration of Seafarer Revealed by Activated Functional Connectivity Mode in fMRI Data Analysis

As a special occupational group, the working and living environments faced by seafarers are greatly different from those of land. It is easy to affect the psychological and physiological activities of seafarers, which inevitably lead to changes in the brain functional activities of seafarers. Therefore, it is of great significance to study the neural activity rules of seafarers’ brain. In view of this, this paper studied the seafarers’ brain alteration at the activated voxel level based on functional magnetic resonance imaging technology by comparing the differences in functional connectivities (FCs) between seafarers and non-seafarers. Firstly, the activated voxels of each group were obtained by independence component analysis, and then the distribution of these voxels in the brain and the common activated voxels between the two groups were statistically analyzed. Next, the FCs between the common activated voxels of the two groups were calculated and obtained the FCs that had significant differences between them through two-sample T-test. Finally, all FCs and FCs with significant differences (DFCs) between the common activated voxels were used as the features for the support vector machine to classify seafarers and non-seafarers. The results showed that DFCs between the activated voxels had better recognition ability for seafarers, especially for Precuneus_L and Precuneus_R, which may play an important role in the classification prediction of seafarers and non-seafarers, so that provided a new perspective for studying the specificity of neurological activities of seafarers.

Our Most Troubling Madness

This book examines the way schizophrenia is shaped by its social context: how life is lived with this madness in different settings, and what it is about those settings that alters the course of the illness, its outcome, and even the structure of its symptoms. Until recently, schizophrenia was perhaps our best example—our poster child—for the “bio-bio-bio” model of psychiatric illness: genetic cause, brain alteration, pharmacologic treatment. We now have direct epidemiological evidence that people are more likely to fall ill with schizophrenia in some social settings than in others, and more likely to recover in some social settings than in others. Something about the social world gets under the skin. This book presents twelve case studies written by psychiatric anthropologists that help to illustrate some of the variability in the social experience of schizophrenia and that illustrate the main hypotheses about the different experience of schizophrenia in the west and outside the west--and in particular, why schizophrenia seems to have a more benign course and outcome in India. We argue that above all it is the experience of “social defeat” that increases the risk and burden of schizophrenia, and that opportunities for social defeat are more abundant in the modern west. There is a new role for anthropology in the science of schizophrenia. Psychiatric science has learned—epidemiologically, empirically, quantitatively—that our social world makes a difference. But the highly structured, specific-variable analytic methods of standard psychiatric science cannot tell us what it is about culture that has that impact. The careful observation enabled by rich ethnography allows us to see in more detail what kinds of social and cultural features may make a difference to a life lived with schizophrenia. And if we understand culture’s impact more deeply, we believe that we may improve the way we reach out to help those who struggle with our most troubling madness.