Affect, Social Behavior, and the Brain in Williams Syndrome

ABSTRACT— Williams syndrome (WS) is a rare genetic disorder characterized by intellectual impairment and a distinctive physical and neuropsychological profile. Relative to their level of intellectual functioning, individuals with WS exhibit strengths in language and face recognition, with deficits in visual-spatial cognition. A heightened appetitive drive toward social interaction is a strong behavioral feature. Relative to other neurodevelopmental disorders, WS has a clearly defined genetic basis, together with a consistent neurocognitive profile of strengths and deficits. Thus, this disorder offers unique opportunities for elucidating gene–brain–behavior relationships. We focus on manifestations of the unusual social profile in WS, by examining data within and across levels of cognition, brain, and molecular genetics.     

Improving assessment of personality disorder traits through social network analysis

When assessing personality disorder traits, not all judges make equally valid judgments of all targets. The present study uses social network analysis to investigate factors associated with reliability and validity in peer assessment. Participants were groups of military recruits (N=809) who acted as both targets and judges in a round-robin design. Participants completed self- and informant versions of the Multisource Assessment of Personality Pathology. Social network matrices were constructed based on reported acquaintance, and cohesive subgroups were identified. Judges who shared a mutual subgroup were more reliable and had higher self-peer agreement than those who did not. Partitioning networks into two subgroups achieved more consistent improvements than multiple subgroups. We discuss implications for multiple informant assessments.     

Effects of teacher greetings on student on-task behavior

A multiple baseline design across participants was used to determine how teacher greetings affected on-task behavior of 3 middle school students with problem behaviors. Momentary time sampling was used to measure on-task behavior during the first 10 min of class. Teacher greetings produced increases in students' on-task behavior from a mean of 45% in baseline to a mean of 72% during the intervention phase. Teacher greetings represent an antecedent manipulation that can easily be implemented in classrooms to improve students' on-task behavior.     

Factor structure of the Schizophrenia Quality of Life Scale Revision 4 (SQLS-R4)

The Schizophrenia Quality of Life Scale Revision 4 (SQLS-R4) appears to offer excellent potential as an easily administered and patient acceptable assessment and monitoring measure of quality of life (QoL). However, a principle psychometric criterion crucial to the use and validity of the instrument concerns the underlying factor structure. The SQLS-R4 comprises two sub-scales, these being cognition and vitality QoL and psychosocial feelings QoL. However, the factor structure of the SQLS-R4 has yet to be established in a patient group in the UK. Confirmatory factor analysis was conducted on the SQLS-R4 to determine its psychometric properties in 100 patients with a primary ICD-10 diagnosis of schizophrenia. Internal reliability of the SQLS-R4 cognition and vitality QoL and psychosocial feelings QoL sub-scales was found to be excellent. Consistent with the original validation of the SQLS-R4, two correlated factors comprising cognition and vitality QoL and psychosocial feelings QoL were observed to offer the best fit to the data. In conclusion, the SQLS-R4 would appear to be suitable for use in patients with a primary diagnosis of schizophrenia in the UK. Potential clinical uses and the direction of future research with the SQLS-R4 are indicated.     

Social support and prognosis in patients at increased psychosocial risk recovering from myocardial infarction.

OBJECTIVE: To compare the impact of network support and different types of perceived functional support on all-cause mortality or nonfatal reinfarction for patients with a recent acute myocardial infarction (AMI). DESIGN: Participants were recruited from the Enhancing Recovery in Coronary Heart Disease (ENRICHD) trial; 2,481 AMI patients with depression or low social support were randomized to a cognitive-behavioral intervention or to a usual care control group. Data collection for certain measures of social support was limited: 2,466 participants completed the ENRICHD Social Support Inventory; 2,457 completed the Perceived Social Support Scale; 1,296 completed the Social Network Questionnaire; and 707 completed the Interpersonal Support and Evaluation List, Tangible Support subscale. Patients also completed the Beck Depression Inventory and were followed for up to 4.5 years. MAIN OUTCOME MEASURE: Time to death or nonfatal reinfarction. RESULTS: Over the follow-up period, 599 patients (24%) died or had a nonfatal AMI. Survival models controlling age, sex, race, socioeconomic status, smoking, antidepressant use, and a composite measure of increased risk revealed that higher levels of perceived social support were associated with improved outcome for patients without elevated depression but not for patients with high levels of depression. Neither perceived tangible support nor network support were associated with more frequent adverse events. CONCLUSION: AMI patients should be assessed for multiple dimensions of perceived functional support and depression to identify those at increased psychosocial risk who may benefit from treatment.     

The neuroanatomy and neuroendocrinology of fragile X syndrome

Fragile X syndrome (FXS), caused by a single gene mutation on the X chromosome, offers a unique opportunity for investigation of gene-brain-behavior relationships. Recent advances in molecular genetics, human brain imaging, and behavioral studies have started to unravel the complex pathways leading to the cognitive, psychiatric, and physical features that are unique to this syndrome. In this article, we summarize studies focused on the neuroanatomy and neuroendocrinology of FXS. A review of structural imaging studies of individuals with the full mutation shows that several brain regions are enlarged, including the hippocampus, amygdala, caudate nucleus, and thalamus, even after controlling for overall brain volume. These regions mediate several cognitive and behavioral functions known to be aberrant in FXS such as memory and learning, information and sensory processing, and social and emotional behavior. Two regions, the cerebellar vermis, important for a variety of cognitive tasks and regulation of motor behavior, and the superior temporal gyrus, involved in processing complex auditory stimuli, are reported to be reduced in size relative to controls. Functional imaging, typically limited to females, has emphasized that individuals with FXS do not adequately recruit brain regions that are normally utilized by unaffected individuals to carry out various cognitive tasks, such as arithmetic processing or visual memory tasks. Finally, we review a number of neuroendocrine studies implicating hypothalamic dysfunction in FXS, including abnormal activation of the hypothalamic-pituitary-adrenal (HPA) axis. These studies may help to explain the abnormal stress responses, sleep abnormalities, and physical growth patterns commonly seen in affected individuals. In the future, innovative longitudinal studies to investigate development of neurobiologic and behavioral features over time, and ultimately empirical testing of pharmacological, behavioral, and even molecular genetic interventions using MRI are likely to yield significant positive changes in the lives of persons with FXS, as well as increase our understanding of the development of psychiatric and learning problems in the general population.     

Oscillatory motion induces change blindness

Change blindness is the relative inability of normally sighted observers to detect large changes in scenes when the low-level signals associated with those changes are either masked or of extremely low magnitude. Change detection can be inhibited by saccadic eye movements, artificial saccades or blinks, and 'mud splashes'. We now show that change detection is also inhibited by whole image motion in the form of sinusoidal oscillations. The degree of disruption depends upon the frequency of oscillation, which at 3 Hz is equivalent to that produced by artificial blinks. Image motion causes the retinal image to be blurred and this is known to affect object recognition. However, our results are inconsistent with good change detection followed by a delay due to poor recognition of the changing object. Oscillatory motion can induce eye movements that potentially mask or inhibit the low-level signals related to changes in the scene, but we show that eye movements promote rather than inhibit change detection when the image is moving.     

Sleep deprivation selectively impairs memory consolidation for contextual fear conditioning

Many behavioral and electrophysiological studies in animals and humans have suggested that sleep and circadian rhythms influence memory consolidation. In rodents, hippocampus-dependent memory may be particularly sensitive to sleep deprivation after training, as spatial memory in the Morris water maze is impaired by rapid eye movement sleep deprivation following training. Spatial learning in the Morris water maze, however, requires multiple training trials and performance, as measured by time to reach the hidden platform is influenced by not only spatial learning but also procedural learning. To determine if sleep is important for the consolidation of a single-trial, hippocampus-dependent task, we sleep deprived animals for 0–5 and 5–10 h after training for contextual and cued fear conditioning. We found that sleep deprivation from 0–5 h after training for this task impaired memory consolidation for contextual fear conditioning whereas sleep deprivation from 5–10 h after training had no effect. Sleep deprivation at either time point had no effect on cued fear conditioning, a hippocampus-independent task. Previous studies have determined that memory consolidation for fear conditioning is impaired when protein kinase A and protein synthesis inhibitors are administered at the same time as when sleep deprivation is effective, suggesting that sleep deprivation may act by modifying these molecular mechanisms of memory storage.     

Executive and visuospatial sketchpad resources in euthymic bipolar disorder: Implications for visuospatial working memory architecture

Visuospatial working memory theory is used to interpret the cognitive impairment in euthymic bipolar disorder. Such patients show deficits in the Corsi Blocks Test (CBT) and executive control. To understand these deficits, 20 euthymic bipolar patients and controls were administered the CBT, Visual Patterns Test (VPT), and a new visual memory task designed to make minimal demands on executive resources. Initial analyses validated the visual memory task and implicated executive involvement in the CBT and VPT. Subsequent analyses on a number of tests confirmed CBT and executive deficits while performance was normal on the VPT and visual memory test. ANCOVA indicated that impaired executive function underpinned patients' CBT performance. Implications for the interface between executive and slave systems of working memory are discussed.