The Alpha-1 Association Genetic Counseling Program: An Innovative Approach to Service

In an era of specialty medicine, genetic counselors are becoming increasingly focused in their service provision. The Alpha-1 Association Genetic Counseling Program, established in September 2007, specializes in confidential toll-free genetic counseling provided by a certified genetic counselor for Alpha-1 Antitrypsin deficiency, a co-dominant condition associated with lung and/or liver disease. The program received more than 600 callers in its first 2 years. Sixty-seven percent of new callers were family members, carriers, or health professionals. The number of callers increased between the first 2 years, with the greatest increases being family members and health professionals. Testing options and explanation of results encompassed 60% of initial reasons for calls. Seventy-two percent of referrals came from family and friends, test result letters, and the Alpha-1 Association. Between year 1 and 2 family member referrals showed the largest increase. This disease-specific genetic counseling program provides a model that may be useful for other rare disease communities.     

Early growth response gene 1 (Egr-1) is required for new and reactivated fear memories in the lateral amygdala

The immediate-early gene early growth response gene-1 (EGR-1, zif-268) has been extensively studied in synaptic plasticity and memory formation in a variety of memory systems. However, a convincing role for EGR-1 in amygdala-dependent memory consolidation processes has yet to emerge. In the present study, we have examined the role of EGR-1 in the consolidation and reconsolidation of amygdala-dependent auditory Pavlovian fear conditioning. In our first series of experiments, we show that EGR-1 is regulated following auditory fear conditioning in the lateral nucleus of the amygdala (LA). Next, we use antisense oligodeoxynucleotide (ODN) knockdown of EGR-1 in the LA to show that training-induced expression of EGR-1 is required for memory consolidation of auditory fear conditioning; that is, long-term memory (LTM) is significantly impaired while acquisition and short-term memory (STM) are intact. In a second set of experiments, we show that EGR-1 is regulated in the LA by retrieval of an auditory fear memory. We then show that retrieval-induced expression of EGR-1 in the LA is required for memory reconsolidation of auditory fear conditioning; that is, post-retrieval (PR)-LTM is significantly impaired while memory retrieval and PR-STM are intact. Additional experiments show these effects to be restricted to the LA, to be temporally graded, and unlikely to be due to nonspecific toxicity within the LA. Collectively, our findings strongly implicate a role for EGR-1 in both the initial consolidation and in the reconsolidation of auditory fear memories in the LA.     

Confirmatory factor analysis of the WAIS-IV/WMS-IV

The Wechsler Adult Intelligence Scale-fourth edition (WAIS-IV) and the Wechsler Memory Scale-fourth edition (WMS-IV) were co-developed to be used individually or as a combined battery of tests. The independent factor structure of each of the tests has been identified; however, the combined factor structure has yet to be determined. Confirmatory factor analysis was applied to the WAIS-IV/WMS-IV Adult battery (i.e., age 16-69 years) co-norming sample (n = 900) to test 13 measurement models. The results indicated that two models fit the data equally well. One model is a seven-factor solution without a hierarchical general ability factor: Verbal Comprehension, Perceptual Reasoning, Processing Speed, Auditory Working Memory, Visual Working Memory, Auditory Memory, and Visual Memory. The second model is a five-factor model composed of Verbal Comprehension, Perceptual Reasoning, Processing Speed, Working Memory, and Memory with a hierarchical general ability factor. Interpretative implications for each model are discussed.     

Perceived discrimination and mental health symptoms among Black men with HIV

People living with HIV (PLWH) exhibit more severe mental health symptoms, including depression and posttraumatic stress disorder (PTSD) symptoms, than do members of the general public. We examined whether perceived discrimination, which has been associated with poor mental health in prior research, contributes to greater depression and PTSD symptoms among HIV-positive Black men who have sex with men (MSM), who are at high risk for discrimination from multiple stigmatized characteristics (HIV-serostatus, race/ethnicity, sexual orientation). A total of 181 Black MSM living with HIV completed audio computer-assisted self-interviews (ACASI) that included measures of mental health symptoms (depression, PTSD) and scales assessing perceived discrimination due to HIV-serostatus, race/ethnicity, and sexual orientation. In bivariate tests, all three perceived discrimination scales were significantly associated with greater symptoms of depression and PTSD (i.e., reexperiencing, avoidance, and arousal subscales; all p values < .05). The multivariate model for depression yielded a three-way interaction among all three discrimination types (p < .01), indicating that perceived racial discrimination was negatively associated with depression symptoms when considered in isolation from other forms of discrimination, but positively associated when all three types of discrimination were present. In multivariate tests, only perceived HIV-related discrimination was associated with PTSD symptoms (p < .05). Findings suggest that some types of perceived discrimination contribute to poor mental health among PLWH. Researchers need to take into account intersecting stigmata when developing interventions to improve mental health among PLWH.     

Examining the association between music lessons and intelligence

Although links between music training and cognitive abilities are relatively well-established, unresolved issues include the generality of the association, the direction of causation, and whether the association is mediated by executive function. Musically trained and untrained 9- to 12-year olds were compared on a measure of IQ and five measures of executive function. IQ and executive function were correlated. The musically trained group had higher IQs than their untrained counterparts and the advantage extended across the IQ subtests. The association between music training and executive function was negligible. These results provide no support for the hypothesis that the association between music training and IQ is mediated by executive function. When considered jointly with the available literature, the findings suggest that children with higher IQs are more likely than their lower-IQ counterparts to take music lessons, and to perform well on a variety of tests of cognitive ability except for those measuring executive function.