Communication of Genetic Risk Information to Daughters in Families with Fragile X Syndrome: The Parent’s Perspective

Parental approaches to communicating information about genetic disorders to their children may be an important determinant in how the children manage stress as well as their adjustment and adaptation to that information. We explored communication patterns through structured interviews with 46 parents of daughters who learned about their genetic risk status as minors. Three different levels of knowledge about fragile X syndrome were explored: 1) informing that it has been diagnosed in the family and is an inherited disorder, 2) informing about the possibility of a daughter being a carrier, and 3) if testing had been done, informing the daughter of her actual carrier status. Additionally, parental perceptions of their daughter’s understanding of the information were explored along with frequency of discussions. We found that communication about genetic risk was initiated by the parents. Five disclosure patterns were identified with variations in style, content, and frequency of communication related to the information that was being disclosed. Aspects of resilient communication were present for all levels of disclosure; however, as the information became more personally relevant for the daughter such as disclosure about the possibility of “being a carrier” for fragile X syndrome and there was uncertainty regarding potential outcomes, the conversations included fewer resilient characteristics. Uncertainty about what and how to present information may negatively affect a parent’s ability to include elements of resilient communication when disclosing genetic risk information.     

Working memory deficits, increased anxiety-like traits, and seizure susceptibility in BDNF overexpressing mice

BDNF regulates components of cognitive processes and has been implicated in psychiatric disorders. Here we report that genetic overexpression of the BDNF mature isoform (BDNF-tg) in female mice impaired working memory functions while sparing components of fear conditioning. BDNF-tg mice also displayed reduced breeding efficiency, higher anxiety-like scores, high self-grooming, impaired prepulse inhibition, and higher susceptibility to seizures when placed in a new empty cage, as compared with wild-type (WT) littermate controls. Control measures of general health, locomotor activity, motor coordination, depression-related behaviors, and sociability did not differ between genotypes. The present findings, indicating detrimental effects of life-long increased BDNF in mice, may inform human studies evaluating the role of BDNF functional genetic variations on cognitive abilities and vulnerability to psychiatric disorders.     

Rapid reacquisition of native phoneme contrasts after disuse: you do not always lose what you do not use

Infants attune to their birth language during the second half of infancy. However, internationally adopted children are often uniquely required to attune to their birth language, and then reattune to their adoptive language. Children who were adopted from India into America at ages 6-60 months (N = 8) and had minimal further exposure to their birth languages were compared to age-matched American non-adopted controls. Without training, neither group could discriminate a phonemic contrast that occurs in their birth language but not in English. However, after training on the contrast, the adopted group (N = 8) improved significantly and discriminated the contrast more accurately than their non-adopted peers. While English had explicitly replaced the birth language of the adopted sample, traces of early exposure conferred privileges on subsequent learning. These findings are consistent with behavioral and neurophysiological data from animals that have identified some of the mechanisms underlying such a 'retention without further use' phenomenon.     

Expectation and temperament moderate amygdala and dorsal anterior cingulate cortex responses to fear faces

A chronic tendency to avoid novelty is often the result of a temperamental bias called inhibited temperament, and is associated with increased risk for anxiety disorders. Neuroimaging studies have demonstrated that an inhibited temperament is associated with increased amygdalar blood-oxygenation-level-dependent (BOLD) response to unfamiliar faces that were not expected; however, the effects of variations in expectancy remain unknown. Using functional magnetic resonance imaging (fMRI), we studied BOLD response to infrequently encountered fear faces that were either expected or not expected in 42 adults with an inhibited or an uninhibited temperament. Individuals with an inhibited temperament had greater amygdala, but less dorsal anterior cingulate cortex (dACC), BOLD response when the stimuli were expected. In contrast, those with an uninhibited temperament had a smaller amygdala but larger dorsal anterior cingulate cortex BOLD response when expecting to see fear faces. These findings demonstrate temperament differences in expectancy effects and provide preliminary evidence for the dACC as a neural substrate mediating differences in inhibited temperament. Enhanced amygdala sensitivity coupled with weak inhibitory control from the dACC may form a neural circuit mediating behaviors characteristic of inhibited temperament and risk for anxiety disorders.     

Defensive and offensive behaviours in a Kleefstra syndrome mouse model

Animal Cognition - Kleefstra syndrome in humans is characterized by a general delay in development, intellectual disability and autistic features. The mouse model of this disease (Ehmt1±)...     

The Dreyfus Affair’s Forgotten Hero: Bernard Lazare and the First Modern Fight against Antisemitism

Jewish History - The historiography of the Dreyfus Affair has often neglected the crucial role played by Bernard Lazare as the first defender of the wrongly accused French army captain Alfred...     

Reliability and construct validity of the Dutch psychopathy checklist: youth version: findings from a sample of male adolescents in a juvenile justice treatment institution

The present study examines the reliability and construct validity of the Dutch version of the Psychopathy Check List: Youth Version (PCL:YV) in a sample of male adolescents admitted to a secure juvenile justice treatment institution (N = 98). Hare's four-factor model is used to examine reliability and validity of the separate dimensions of psychopathy. Interrater reliabilities are good to excellent for the PCL:YV total score and most factor scores, except for the affective factor. Several suggestions are offered for optimizing reliability of this factor. Finally, meaningful associations between PCL:YV scores and scores on the Minnesota Multiphasic Personality Inventory-Adolescent and the Interpersonal Checklist-Revised support the construct validity of the PCL:YV total score as well as the four factors in the Dutch context.     

Glucocorticoids are required for extinction of predator stress-induced hyperarousal

Background

The role of glucocorticoids in extinction of traumatic memories has not been fully characterized despite its potential as a therapeutic target for acquired posttraumatic stress disorder (PTSD). The predator stress paradigm allows us to determine whether glucocorticoids mediate the extinction of both context-dependent and context-independent fear memories.

Methods

Male C57BL/6J mice were exposed to a predator (cat) then repeatedly exposed to the predator stress context in the absence of the cat. Context-dependent (associative) fear memory was assessed as suppression of activity during re-exposure to the predator stress context without the cat (extinction trials). Context-independent fear (non-associative) was assessed seven days after extinction trials using measures of hyperarousal and anxiety-like behaviours in environments unlike the predator stress context. To assess the role of glucocorticoids, mice were injected with metyrapone (50 mg/kg) 90 min prior to extinction trials in predator stressed mice and context-dependent and context-independent fear memories were assessed. Finally, metyrapone-treated predator stressed mice were injected with corticosterone (5 or 10 mg/kg) immediately following extinction trials and context-dependent and context-independent fear memories were assessed.

Results

Repeated re-exposure to the predator stress context without the cat present extinguished context-dependent fear memory, and also reduced hyperarousal, a generalized, chronic PTSD-like symptom. We show that extinction of context-independent predator stress-induced hyperarousal is dependent on endogenous glucocorticoids during the extinction trials. Furthermore, the inhibition of extinction by metyrapone on startle amplitude was reduced by exogenous administration of corticosterone following extinction trials. Overall, these data implicate glucocorticoids in the extinction of hyperarousal, a core symptom of PTSD.     

Traveling economically through memory space: Characterizing output order in memory for serial order

How do people report the contents of short-term memory when information about order must be retained but items can be retrieved in any order? We report an experiment using an unconstrained reconstruction task in which people can report list items in any order but must place them in their correct serial positions. We found (1) a tendency to report recent items first in immediate but not in delayed reconstruction, (2) a tendency to recall temporally isolated items first, (3) a preference for forward recall order, and (4) a preference for output orders that minimize the length of the path that must be traversed through memory space during retrieval. The results constrain most current models of short-term memory in which retrieval is ballistic and is assumed to run to completion autonomously once initiated.