An Investigation of Genetic Counselors’ Testing Recommendations: Pedigree Analysis and the Use of Multiplex Breast Cancer Panel Testing

Genetic testing recommendations for hereditary breast and ovarian cancer involve pedigree analysis and consultation of testing guidelines. The testing landscape for hereditary cancer syndromes is shifting as multiplex panel tests become more widely integrated into clinical practice. The purpose of the current study was to assess how genetic counselors utilize pedigrees to make recommendations for genetic testing, to determine consistency of these recommendations with National Comprehensive Cancer Network (NCCN) Guidelines and to explore current use of multiplex panel testing. Sixty-nine genetic counselors were recruited through the National Society of Genetic Counselors Cancer Special Interest Group’s Discussion Forum. Participation involved pedigree analysis and completion of an online questionnaire assessing testing recommendations and use of multiplex panel testing. Pedigree analysis and test recommendations were scored for consistency with NCCN guidelines. The average score was 12.83/15 indicating strong consistency with NCCN guidelines. Participants were more likely to consider multiplex testing when pedigrees demonstrated highly penetrant dominant inheritance but were not indicative of a particular syndrome. Participant concerns about multiplex panel testing include limited guidelines for both testing eligibility and medical management. This study demonstrates high utilization of pedigree analysis and raises new questions about its use in multiplex genetic testing.     

Infants chunk object arrays into sets of individuals

Research suggests that, using representations from object-based attention, infants can represent only 3 individuals at a time. For example, infants successfully represent 1, 2, or 3 hidden objects, but fail with 4 (Developmental Science 6 (2003) 568), and a similar limit is seen in adults' tracking of multiple objects (see Cognitive Psychology 38 (1999) 259). In the present experiments we used a manual search procedure to ask whether infants can overcome this limit of 3 by chunking individuals into sets. Experiments 1 and 2 replicate infants' failure to represent a total of 4 objects. We then show that infants can exceed this limit when items are spatiotemporally grouped into two sets of 2 prior to hiding, leading infants to successfully represent a total of 4 objects. Experiment 3 demonstrates that infants tracked the 4 objects as two sets of 2, searching for each set in its correct hiding location. That infants represented the number of individuals in each set is demonstrated by their reaching for the correct number of objects in each location. These results suggest that by binding individuals into sets, infants can increase their representational capacity. This is the first evidence for chunking abilities in infants.     

The New Orleans Forensic Aftercare Clinic: a seven year review of hospital discharged and jail diverted clients

This paper provides a review of the Forensic Aftercare Clinic Conditional Release Program (FAC), which has been operating since December, 1995, in New Orleans, LA. The FAC is a community based program that provides clinical, rehabilitative, and supervisory services to individuals who have been found not guilty by reason of insanity or unrestorably incompetent to proceed and who have been discharged from inpatient settings or diverted from jail settings and placed on conditional release by district court orders. 119 clients participated in FAC over a 7 year period. Forty-one (34.4%) had their conditional release revoked. Of the total population, 12 (10.1%) were re-arrested on at least one charge, 3 (2.4%) were arrested on felony charges, and 9 (7.6%) on misdemeanors. Only two of these charges were violent, resulting in no significant harm to victims. Twenty (16.8%) were hospitalized at least once due to relapse. Clients diverted from jail to community settings did not differ significantly on most variables from clients who were discharged from long-term hospitalization. Data related to public safety and client diversion demonstrate that clients, when appropriate, can be safely diverted to the community in lieu of hospitalization. The number of statewide clients who have been discharged from the forensic hospital into the community has increased steadily from 13 in 1995 to 29 in 2002, and statewide diversion clients have steadily increased from 0 in 1992 to 20 in 2002. The increase in statewide diversion clients and forensic discharges over this 7 year period indicates that stakeholders see the viability of the program as an alternative to as well as a step-down from long-term forensic hospitalization.     

Evaluating the endophenotype model of ADHD neuropsychological deficit: results for parents and siblings of children with ADHD combined and inattentive subtypes

Neurogenetic models predict neuropsychological weaknesses in the relatives of children with attention-deficit/ hyperactivity disorder (ADHD). The authors examined executive and regulatory measures in 386 relatives (307 parents, 79 siblings) of children with ADHD combined type, ADHD inattentive type, and controls. Predicted deficits were seen on trailmaking (relatives of ADHD combined type only), stop-signal reaction times (relatives of girls only), and response variability (mothers only) but not on naming or output speed. Effects generally held, even with relatives' ADHD status controlled. A neuropsychologically impaired subgroup of children with ADHD had relatives with clear neuropsychological weaknesses. The authors conclude that a neurogenetic model of ADHD etiology is supportable only for a subset of executive functions and that neuropsychological heterogeneity warrants more examination in ADHD.     

Shame and the temporality of social life

Shame is notoriously ambivalent. On one hand, it operates as a mechanism of normalization and social exclusion, installing or reinforcing patterns of silence and invisibility; on the other hand, the capacity for shame may be indispensible for ethical life insofar as it attests to the subject’s constitutive relationality and its openness to the provocation of others. Sartre, Levinas and Beauvoir each offer phenomenological analyses of shame in which its basic structure emerges as a feeling of being exposed to others and bound to one’s own identity. For Sartre, shame is an ontological provocation, constitutive of subjectivity as a being-for-Others. For Levinas, ontological shame takes the form of an inability to escape one’s own relation to being; this predicament is altered by the ethical provocation of an Other who puts my freedom in question and commands me to justify myself. For Beauvoir, shame is an effect of oppression, both for the woman whose embodied existence is marked as shameful, and for the beneficiary of colonial domination who feels ashamed of her privilege. For each thinker, shame articulates the temporality of social life in both its promise and its danger.     

The relationship of childhood trauma to nicotine dependence in pregnant smokers

Pregnant women with high levels of nicotine dependence are the least likely to quit smoking spontaneously during pregnancy or to benefit from smoking cessation interventions. In the general population, there is increasing evidence of a relationship between smoking, nicotine dependence, and exposure to childhood trauma. We examined the relationship of childhood trauma to several measures of nicotine dependence and evaluated whether this relationship was mediated by major depressive disorder or depressive symptom severity in pregnant smokers. Moderate to extreme levels of childhood trauma were significantly related to smoking within 5 minutes or less of waking, and to the Behavioral Choice-Melioration, Negative Reinforcement, and Tolerance subscales of the Wisconsin Inventory of Smoking Dependence Motives (WISDM-68) scale. The relationships between childhood emotional abuse and the WISDM-68 Total and Negative Reinforcement subscale were partially mediated by depressive symptoms. Results suggest that childhood trauma may be a risk factor underlying nicotine dependence in pregnant smokers. Increased understanding of the relationship of affect regulation to smoking in individuals with childhood trauma histories may aid in the development of more effective treatments of nicotine dependence for this population of smokers.     

Reviews: Books, Art

FINDING SPACE: WINNICOTT, GOD, AND PSYCHIC REALITY. By Ann Belford Ulanov. 232 pp. Louisville, KY: Westminster John Knox Press. $24.95. ON RELIGION. By John D. Caputo. New York: Routledge Press, 2001. $12.95. ORDINARY MIND: EXPLORING THE COMMON GROUND OF ZEN AND PSYCHOTHERAPY. By Barry Magid. 190 pp. Boston: Wisdom Pub, 2001. $22.95. SEXUAL ORIENTATION AND PSYCHOANALYSIS: SEXUAL SCIENCE AND CLINICAL PRACTICE. By Richard C. Friedman and Jennifer I. Downey. 352 pp. New York: Columbia University Press, 2002. $35.00. EROTIC INNOCENCE: THE CULTURE OF CHILD MOLESTING. By James R. Kincaid. 352 pp. Durham: Duke University Press, 1998. $24.95. PRACTICING PRESENCE: THE SPIRITUALITY OF CARING IN EVERYDAY LIFE. By Kerry Walters. 122 pp. Franklin, WI: Sheed & Ward, Inc., 2001. $14.95. TERRIFYING TRANSFERENCES: AFTERSHOCKS OF CHILDHOOD TRAUMA. By Lawrence E. Hedges. 497 pp. Northvale, NJ: Jason Aronson, Inc., 2000. $65.00. THE ORIFICE AS SACRIFICIAL SITE: CULTURE, ORGANIZATION, AND THE BODY. By James Aho. 153 pp. New York: Aldine de Gruyter, 2002. $45.95. The Paintings of Joan Mitchell     

Does comorbid attention-deficit/hyperactivity disorder impact the clinical expression of pediatric obsessive-compulsive disorder?

What is the impact of attention-deficit/hyperactivity disorder (ADHD) on the phenotypic expression of pediatric obsessive-compulsive disorder (OCD). We examined phenotypic features, and functional and clinical correlates in youths with OCD, with and without comorbid ADHD, from a large sample of consecutively referred pediatric psychiatry patients. Although comorbid ADHD had no meaningful impact on the phenotypic expression or clinical correlates of OCD, it was associated with higher rates of compromised educational functioning compared with other OCD youths. Our findings suggest that the OCD phenotype runs true and is not impacted by comorbid ADHD in youths diagnosed with both OCD and ADHD. In such affected youths, both disorders contribute to morbid dysfunction and require treatment. More work is needed to determine whether OCD plus ADHD represents a developmentally and etiologically distinct form of the OCD syndrome.     

Relations between inhibition, executive functioning, and ADHD symptoms: a longitudinal study from age 5 to 8(1/2) years.

The present study examined whether inhibition measured as early as preschool can predict more general executive functioning and ADHD symptoms at school age. In contrast to previous studies, the present study focused specifically on ADHD symptoms rather than general disruptive behavior problems, and boys and girls were studied separately. The main result was that inhibition was strongly related to ADHD symptoms both in school and at home for boys, but only in the school context for girls. Early inhibition was also significantly related to later executive functioning, and concurrent relations were found between executive functioning and ADHD symptoms, although in both cases only for boys. Besides this, inhibition added significantly to the variance, beyond that of executive functioning, which meant that for boys, inhibition and the other executive functioning explained about half the variance in inattention problems. The stronger relation between inhibition, executive functioning and ADHD symptoms for boys compared to girls could suggests that either the predictors of ADHD are different for the two sexes, or girls are more often equipped with some factor that protects them from developing ADHD symptoms, despite poor executive functioning. However, it is also possible that relations are just harder to demonstrate for girls due to their lower incidence of disruptive problem behaviors.