The fragile X syndrome: from molecular genetics to neurobiology

Since the identification of the FMR1 gene basic research has been focused on the molecular characterization of the FMR1 gene product, the fragile X mental retardation protein (FMRP). Recent developments in fragile X research have provided new insights and knowledge about the physiological function of FMRP in the cell and the nerve cell in particular. Currently, compelling evidence suggests a role for FMRP in the transport/translation of dendritically localized mRNAs. In addition, the identification of some of the target mRNAs of FMRP have led to an increased interest in the neurobiology of the syndrome. This review highlights the role of FMRP in dendritic mRNA transport/translation in relation to synaptic plasticity, a molecular mechanism implicated in learning and memory.     

Bad but bold: Ambivalent attitudes toward men predict gender inequality in 16 nations

A 16-nation study involving 8,360 participants revealed that hostile and benevolent attitudes toward men, assessed by the Ambivalence Toward Men Inventory (P. Click & S.T. Fiske, 1999), were (a) reliably measured across cultures, (b) positively correlated (for men and women, within samples and across nations) with each other and with hostile and benevolent sexism toward women (Ambivalent Sexism Inventory, P. Click & S.T. Fiske, 1996), and (c) negatively correlated with gender equality in cross-national comparisons. Stereotype measures indicated that men were viewed as having less positively valenced but more powerful traits than women. The authors argue that hostile as well as benevolent attitudes toward men reflect and support gender inequality by characterizing men as being designed for dominance.     

Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases

The use of whole exome sequencing (WES) for diagnostics of children with rare genetic diseases raises questions about best practices in genetic counselling. While a lot of attention is now given to pre-test counselling procedures for WES, little is known about how parents experience the (positive, negative, or inconclusive) WES results in daily life. To fill this knowledge gap, data were gathered through in-depth interviews with parents of 15 children who underwent WES analysis. WES test results, like results from other genetic tests, evoked relief as well as worries, irrespective of the type of result. Advantages of obtaining a conclusive diagnosis included becoming more accepting towards the situation, being enabled to attune care to the needs of the child, and better coping with feelings of guilt. Disadvantages experienced included a loss of hope for recovery, and a loss by parents of their social network of peers and the effort necessary to re-establish that social network. While parents with conclusive diagnoses were able to re-establish a peer community with the help of social media, parents receiving a possible diagnosis experienced hurdles in seeking peer support, as peers still needed to be identified. These types of psychosocial effects of WES test results for parents are important to take into account for the development of successful genetic counselling strategies.     

A metasynthesis of published case studies through Lacan's L‐schema: Transference in perversion

Transference in perversion is characterized by specific problems such as a defiant and polemic attitude, erotic transference, projections, and aggression. Such transference poses particular problems in the treatment of perversion and might render analytical work with these patients impossible. The authors propose that Lacan's L‐schema can contribute to separating productive from counterproductive aspects of transference as it distinguishes between an Imaginary and a Symbolic dimension in transference. In this meta‐synthesis of 11 published case studies on sexual perversion, patterns of transference are analysed. On the Imaginary dimension, the authors found that patients with perversion tend to (un)consciously engage the analyst in a relationship characterized by identification, fusion and rivalry. On the Symbolic dimension, they found that perverse patients are able to question their motives, lapses, symptoms, and subjective identity. The thematic analysis revealed the importance of the position of the analyst in this work, which is described within the L‐schema as being the representative of the otherness in the Other. Implications for clinical practice and recommendations for further research are outlined.     

Reducing work-family conflict through different sources of social support

The present study examines the relationship between four sources of social support (i.e., spouse, relatives and friends, supervisor, and colleagues) and time and strain-based work-to-family and family-to-work conflict among 444 dual-earners. Gender differences with respect to the relationship between social support and work-family conflict were examined as well. The relationship between the sources of support and work-family conflict was tested using multiple regression analyses. Results showed that women reported more strain-based work-to-family conflict than men. Social support from spouse and from colleagues were related to family-to-work conflict, while none of the sources of social support were related to work-to-family conflict. Social support from supervisor and from colleagues were related differently to work-to-family conflict (time-based) and family-to-work conflict (strain-based) for men than for women. We conclude that social support is especially important in reducing family-to-work conflict.     

Subregion-specific dendritic spine abnormalities in the hippocampus of Fmr1 KO mice

Fragile X syndrome (FXS) is the most common inherited form of mental retardation and is caused by the lack of fragile X mental retardation protein (FMRP). In the brain, spine abnormalities have been reported in both patients with FXS and Fmr1 knockout mice. This altered spine morphology has been linked to disturbed synaptic transmission related to altered signaling in the excitatory metabotropic glutamate receptor 5 (mGluR5) pathway. We investigated hippocampal protrusion morphology in adult Fmr1 knockout mice. Our results show a hippocampal CA1-specific altered protrusion phenotype, which was absent in the CA3 region of the hippocampus. This suggests a subregion-specific function of FMRP in synaptic plasticity in the brain.