Unintended Diagnosis of Von Hippel Lindau Syndrome Using Array Comparative Genomic Hybridization (CGH): Counseling Challenges Arising from Unexpected Information

Array Comparative Genomic Hybridization (array CGH) is a powerful tool for identifying genomic imbalances and providing a diagnosis in individuals with a normal karyotype. It has been particularly useful in the investigation of individuals with developmental delay +/?, dysmorphic features and/or multiple congenital abnormalities. However, this non-targeted method of scanning the whole genome can reveal unexpected information. We present a case where array CGH identified the cause of a proband’s moderate mental retardation by discovery of a de novo deletion of chromosome 3p25.3. This deletion was shown to contain at least 25 genes including the VHL gene, the deletion or mutation of which leads to Von Hippel Lindau (VHL) syndrome. Presymptomatic testing for VHL is usually offered after appropriate genetic counseling about the implications of this condition. Therefore, scanning the genome by array CGH presents a number of challenges for the genetic counselor. We suggest that further understanding of the psychosocial effects of array CGH is needed in order for appropriate pre- and post-test counseling to be provided.     

Perceptual Justification and Warrant by Default

As I use the term, ‘entitlement’ is any warrant one has by default—i.e. without acquiring it. Some philosophers not only affirm the existence of entitlement, but also give it a crucial role in the justification of our perceptual beliefs. These philosophers affirm the Entitlement Thesis: that an essential part of what makes our perceptual beliefs justified is our entitlement to the proposition that I am not a brain-in-a-vat. Crispin Wright, Stewart Cohen and Roger White are among those who endorse this controversial claim. In this paper, I argue that the Entitlement Thesis is false.     

Frontal cortex functioning in the infant broader autism phenotype

Atypical attention has been proposed as a marker of the broader autism phenotype. In the present study we investigated this and the related process of inhibitory control at the youngest possible age through the study of infant siblings of children with an autism spectrum disorder (Sibs-ASD). Both attention and inhibition have been related to the frontal cortex of the brain. Nine- to ten-month-old Sibs-ASD and low-risk control infants completed the Freeze-Frame task, in which infants are encouraged to inhibit looks to peripherally presented distractors whilst looking at a central animation. The attractiveness of the central stimulus is varied in order to investigate the selectivity of infants’ responses. In line with previous studies, it was found that a subset of Sibs-ASD infants had difficulty disengaging attention from a central stimulus in order to orient to a peripheral stimulus. The Sibs-ASD group also showed less Selective Inhibition than controls. However, Sibs-ASD infants did demonstrate Selective Inhibitory Learning. These results provide preliminary evidence for atypical frontal cortex functioning in the infant broader autism phenotype.     

Perfectionism and Depression Among Low-Income Chronically Ill African American and White Adolescents and Their Maternal Parent

Most research on perfectionism is based on convenience samples of university students or clinically distressed samples, and therefore relatively less is known about the development and implications of perfectionism for other groups. In this study, we examined perfectionism and depression in low-income African American (n = 39) and White (n = 55) adolescents with chronic illnesses (most with diabetes, asthma, and/or hypertension) and their primary parents. We specifically examined the association between parent and child perfectionism, and the link between perfectionism and depression in both groups. The African American adolescents reported significantly more maladaptive perfectionism than did the White adolescents, and the African American parents reported significantly higher scores on depression than did the White parents. Correlations and regression analyses revealed similarities and differences in perfectionism-depression associations that might be explained in light of cultural differences and the unique physical and emotional challenges faced by youth with chronic illnesses. The word “parent” in this study is used to represent a parent or other adult who was identified as a primary caregiver for the adolescent.     

Distinguishing automatic and controlled components of attitudes from direct and indirect measurement methods

Distinct automatic and controlled processes are presumed to influence social evaluation. Most empirical approaches examine automatic processes using indirect methods, and controlled processes using direct methods. We distinguished processes from measurement methods to test whether a process distinction is more useful than a measurement distinction for taxonomies of attitudes. Results from two studies suggest that automatic components of attitudes can be measured directly. Direct measures of automatic attitudes were reports of gut reactions (Study 1) and behavioral performance in a speeded self-report task (Study 2). Confirmatory factor analyses comparing two-factor models revealed better fits when self-reports of gut reactions and speeded self-reports shared a factor with automatic measures versus sharing a factor with controlled self-report measures. Thus, distinguishing attitudes by the processes they are presumed to measure (automatic versus controlled) is more meaningful than distinguishing based on the directness of measurement.     

Helping Children and Caregivers Cope with Repeated Invasive Procedures: How Are We Doing?

This paper discusses recent developments in the medical and psychological management of child behavioral distress during invasive (i.e., needle stick) procedures for diagnosis and treatment of chronic pediatric disorders. Along with a review of relevant studies from the medical, pediatric psychology and behavior analysis literatures, representative data are presented from recent research on pediatric procedural pain management. The impact of increasing use of implanted subcutaneous intravenous catheters (ports) and decreased reliance on intravenous cannulation is discussed. Similarly, the effects (and limitations) of more frequent use of topical anesthesia to prepare needle sites also are presented. The continuing need for adjunctive, nonpharmacological (i.e., cognitive and behavioral) interventions for procedural pain is emphasized, and recent studies on distraction and counter-conditioning-based treatments are described. Future research is encouraged on (1) behavioral interventions in relation to day-to-day contextual variables that modulate treatment effects and (2) the development of efficient screening measures to identify children and families who are least likely to cope effectively with repeated procedures, allowing them to be given greater priority for allocation of limited resources for psychosocial intervention.     

Serotonin: Modulator of a drive to withdraw

Serotonin is a fundamental neuromodulator in both vertebrate and invertebrate nervous systems, with a suspected role in many human mental disorders. Yet, because of the complexity of serotonergic function, researchers have been unable to agree on a general theory. One function suggested for serotonin systems is the avoidance of threat. We propose and review evidence for an alternative hypothesis, that a phylogenetically primitive of function of serotonin is to oppose the activating neuromodulators (particularly noradrenalin and dopamine). The functional effect of this opposition can be seen as applying a drive to withdraw from dangerous, aversive or high stimulation environments. Proposing that serotonin is involved in a drive to withdraw and seek contentment, instead of a drive to avoid, may be compatible with several lines of evidence on serotonin function and may facilitate a better understanding of serotonergic neuromodulation in human psychopathology.     

An Examination of Historical Loss Thinking Frequency and Rumination on Suicide Ideation in American Indian Young Adults

No research has empirically investigated whether frequency of historical loss thinking is a potential risk factor for suicide ideation in American Indians. Results of this study demonstrated that the frequency of historical loss thinking was positively associated with brooding and reflection at a small magnitude, but was not directly related to suicide ideation. Bootstrapping analyses indicated small indirect effects of historical loss thinking frequency on suicide ideation through brooding and reflection individually, but only through brooding when analyzed in a parallel mediation model. These findings suggest that American Indians who more frequently engage in historical loss thinking may be susceptible to suicide ideation via an increase in ruminative tendencies, specifically brooding.