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1.
Expanded carrier screening (ECS) analyzes dozens or hundreds of recessive genes to determine reproductive risk. Data on the clinical utility of screening conditions beyond professional guidelines are scarce. Individuals underwent ECS for up to 110 genes. Five-hundred thirty-seven at-risk couples (ARC), those in which both partners carry the same recessive disease, were invited to participate in a retrospective IRB-approved survey of their reproductive decision making after receiving ECS results. Sixty-four eligible ARC completed the survey. Of 45 respondents screened preconceptionally, 62% (n = 28) planned IVF with PGD or prenatal diagnosis (PNDx) in future pregnancies. Twenty-nine percent (n = 13) were not planning to alter reproductive decisions. The remaining 9% (n = 4) of responses were unclear. Of 19 pregnant respondents, 42% (n = 8) elected PNDx, 11% (n = 2) planned amniocentesis but miscarried, and 47% (n = 9) considered the condition insufficiently severe to warrant invasive testing. Of the 8 pregnancies that underwent PNDx, 5 were unaffected and 3 were affected. Two of 3 affected pregnancies were terminated. Disease severity was found to have significant association (p = 0.000145) with changes in decision making, whereas guideline status of diseases, controlled for severity, was not (p = 0.284). Most ARC altered reproductive planning, demonstrating the clinical utility of ECS. Severity of conditions factored into decision making.  相似文献   

2.
We studied counselees’ expressed understanding of the risk estimate and surveillance recommendation in the final consultation for breast cancer genetic counseling in relation with their risk perception, worry and cancer surveillance adherence 1 year post-counseling. Consecutive counselees were included from 2008 to 2010. Counselees with an indication for diagnostic DNA-testing for themselves or a breast cancer affected relative were requested to complete online questionnaires before and after counseling and one year after counseling (N?=?152–124). Self-reported surveillance was compared to surveillance recommendations. Consultations were videotaped. Counselees’ reactions to the risks and recommendations were coded. Statements about the risk perception and surveillance intentions of breast cancer unaffected counselees were transcribed. Associations with outcomes were explored. Almost all breast cancer unaffected counselees (>90 %) reacted to their risk estimate with an utterance indicating understanding and this reaction was not significantly associated with their post-visit risk perception alignment. Over one-third (38.6 %) overestimated their risk post-counseling. Few counselees (5.8 %) expressed surveillance intentions. One year after counseling, about three-quarters (74.0 %) of the breast cancer unaffected counselees had adhered to the surveillance recommendation. Almost one-quarter (23.3 %) had performed more mammograms/MRI scans than recommended, which was associated with prior mammography uptake (n?=?47; X 2 ?=?5.2; p?=?.02). Counselees’ post-counseling overestimation of their risk, high levels of worry and high surveillance uptake were not reflected in their reactions to the counselor’s information during the final visit.  相似文献   

3.
A cornerstone of forensic assessments involves the assessment of response styles, including feigning and malingering. As a forensic relevant instrument (FRI), the Minnesota Multiphasic Personality Inventory-2-Restructured Form (MMPI-2-RF) contains embedded overreporting scales that cover the three major domains: feigned mental disorders (i.e., F-r and Fp-r), feigned cognitive impairment (RBS and FBS-r), and feigned medical complaints (Fs). This meta-analytic review of 30 studies examined the effectiveness of various detection strategies and cut scores for the MMPI-2-RF. As an important clinical concern, several feigning scales (F-r, FBS-r, and RBS) exhibited marked elevations (Ms > 80 T) for genuine responders diagnosed with major depressive or somatoform disorders. However, the Fp-r—a true rare-symptoms detection strategy—proved highly effective for discriminating feigned from genuine psychopathology (ds > .90). For feigned cognitive impairment, the FBS-r produced very large effect sizes with feigned TBI (M d = 1.41); however, its cut scores were more indicative of general feigning than feigned cognitive impairment. Finally, Fs yielded a large effect size (d = 1.23) for feigned medical complaints, but its cut scores were more likely to identify examinees feigning mental disorders (M sensitivity = .74) than medical complaints (M sensitivity = .43). These findings are discussed within the context of clinical forensic evaluations.  相似文献   

4.
Scientific advances have allowed the development of multiplex gene-panels to assess many genes simultaneously in women who have tested negative for BRCA1/2. We examined correlates of interest in testing for genes that confer modest and moderate breast cancer risk and risk communication preferences for women from BRCA negative families. Female first-degree relatives of breast cancer patients who tested negative for BRCA1/2 mutations (N = 149) completed a survey assessing multiplex genetic testing interest and risk communication preferences. Interest in testing was high (70 %) and even higher if results could guide risk-reducing behavior changes such as taking medications (79 %). Participants preferred to receive genomic risk communications from a variety of sources including: primary care physicians (83 %), genetic counselors (78 %), printed materials (71 %) and the web (60 %). Factors that were independently associated with testing interest were: perceived lifetime risk of developing cancer (odds ratio (OR) = 1.67: 95 % confidence interval (CI) 1.06–2.65) and high cancer worry (OR = 3.12: CI 1.28–7.60). Findings suggest that women from BRCA1/2 negative families are a unique population and may be primed for behavior change. Findings also provide guidance for clinicians who can help develop genomic risk communications, promote informed decision making and customize behavioral interventions.  相似文献   

5.
Using cell-free DNA in maternal serum to detect fetal aneuploidy has been shown to have high sensitivity and specificity. The purpose of this study was to assess attitudes and knowledge of Maternal-Fetal Medicine (MFM) fellows regarding noninvasive prenatal testing (NIPT). A 13 question survey was sent via listserv to US-based MFM fellows. One hundred sixteen fellows responded, a 42.3 % response rate, with >75 % reporting they are comfortable ordering NIPT. Most (82 %) preferred that a patient discuss options with a provider or genetic counselor. Three common methods used to learn about NIPT were: formal educational activities (n?=?78, 69 %), self-review of the literature (n?=?76, 67 %), and discussions with peers (n?=?73, 65 %). On questions related to trisomy 21, accuracy was >70 %. However, accuracy was lower regarding use in twin pregnancies (42 %) and monosomy X screening (50 %).  相似文献   

6.
7.
Hispanic men experience high rates of HIV infection and other sexually transmitted infections (STIs) when compared to non-Hispanic whites. Many factors contribute to HIV/STI risk among Hispanic men. Some researchers have suggested that primary relationships may be a source of HIV/STIs because some men engage in sexual relationships outside of the primary relationship. However, little is known about this among Hispanic men, and less is known about how sexual relationships differ by sexual orientation. The purpose of this study was twofold: (1) to determine if Hispanic men engage in sexual relationships outside of primary relationships; and (2) to compare sex outside of primary relationships by sexual orientation. Data for this study were obtained from a larger study that investigated health risks of Hispanic men residing in the U.S.–Mexico border community. Participants were recruited from agencies that provided services to Hispanic men. Participants completed a structured interview that included questions about primary relationships and sex outside of primary relationships. The sample consisted of 103 Hispanic men (50 heterosexual, 43 gay, and 10 bisexual Hispanic men), but two participants refused to answer relationship questions, resulting in a sample of 101 Hispanic men. About one-third of the participants (n = 29) reported sex outside of the primary relationship, but no differences were found between the gay/bisexual and heterosexual men, X 2 (2, N = 101) = 9.91, p = .128. More gay/bisexual men reported sex with the primary partner and another person at the same time than heterosexual men, X 2 (2, N = 101) = 13.32, p = .010. More gay/bisexual men reported open relationships when compared to heterosexual men, X 2 (2, N = 101) = 17.23, p = .008, and more gay/bisexual men reported sex outside the primary relationship without the primary partner’s knowledge, X 2 (2, N = 101) = 15.09. p = .020. However, more heterosexual men reported that condoms were not used for sex outside the primary relationship when compared to gay/bisexual men, X 2 (2, N = 101) = 14.01, p = .029. Sex outside of primary relationships presents some implications for HIV/STI prevention among Hispanic men. Because gay/bisexual men experience higher rates of HIV/STI, more attention needs to be focused on all forms of relationships to prevent acquisition of HIV/STIs. Among heterosexual Hispanic men more attention needs to be given to reinforcement of safer sex practices both outside the primary relationship, and within the primary relationship if high risk sex is occurring outside the primary relationship. More research is needed on the reasons for sex outside the primary relationship among Hispanic men, as well as research to promote safer sex practices when sex occurs outside of the primary relationship.  相似文献   

8.
Next generation sequencing (NGS) gene panels are increasingly used in medical genetics clinics for the evaluation of common inherited cancer syndromes, but the clinical efficacy of these tests, and the factors driving clinical providers to order them are unclear. We conducted a patterns-of-care study to compare patients evaluated with NGS gene panels with a reference group. We abstracted demographic, socioeconomic, and clinical information in a retrospective cohort of patients referred to a large medical genetics clinic for evaluation of inherited colorectal cancer and polyposis syndromes. Patients tested with NGS gene panels were more likely to be insured compared to the reference group (85.3 % vs. 69.2 %, p = 0.0068),less likely to have prior tumor tissue testing (29.4 % vs. 54.3 %, p = 0.0004), and less likely to have an abnormal tumor tissue test result (46.7 % vs. 74.5 %, p = 0.01). No significant differences were found between groups in age, gender, race, employment status, personal history of colorectal cancer, or proportion of patients fulfilling Lynch syndrome clinical criteria. Patients with NGS testing were less likely to have a pathogenic/likely pathogenic variant detected (13.7 % vs. 31.9 %, p = 0.002). Patients referred for NGS testing to evaluate inherited colorectal cancer/polyposis risk appear to undergo tumor tissue testing less frequently than non-NGS testing patients. Further studies are needed to assess the most effective and cost-effective approach to genomic diagnosis in this patient population.  相似文献   

9.
Use of apolipoprotein E genotyping to personalize the risk of a poor recovery after traumatic brain injury is complicated by the potential for genetic discrimination and the potential to reveal an increased risk for late onset Alzheimer’s disease. We developed a survey to gauge interest in testing among athletes participating in National Collegiate Athletic Association programs. Eight hundred and forty seven student-athletes were surveyed to determine their interest in genetic testing, their willingness to share the results of testing with parents, coaches and physicians, their concerns about privacy and/or discrimination, and their interest in genetic counseling. Nearly three quarters of respondents expressed some level of interest in testing, with the largest number describing themselves as ‘possibly interested’ (54.9 %, n = 463) and a smaller number describing themselves as ‘very interested’ (18.9 %, n = 159). Most student-athletes said that receiving secondary information about their risk for late-onset Alzheimer’s disease made them more likely to test (50.6 %, n = 426) rather than less likely to test (12.4 %, n = 104). Student-athletes were open to apolipoprotein E genotyping and willing to share test results with their parents, coaches and physicians. They did not anticipate that test results would impact their behavior or ability to play. Testing programs may be welcome but should provide clear information as to risks and benefits.  相似文献   

10.
Interventions to assist reproductive health decision-making in populations affected by sickle cell disease (SCD) or trait (SCT) lack proven efficacy over time. Our aim was to compare effects of CHOICES, a Web-based multimedia education program on implementing informed reproductive plans, and usual care education (e-Book) on reproductive knowledge, intention, and behavior over 24 months. We randomized 234 participants with SCD (n?=?138) or SCT (n?=?96) (age 18–35 years, 35 % male, 94 % African American) to CHOICES and e-Book groups. Participants completed a sickle cell-specific reproductive measure before and four times after the intervention (6, 12, 18 and 24 months). Compared to the e-Book group the CHOICES group had significantly more improvement in knowledge over time (p?=?.004) but not intention (p?=?.18) or behavior (p?=?.69). At baseline, 114 (48.7 %) participants reported having partners who would not put the couple at risk for their children inheriting SCD. Of the 116 (49.6 %) at-risk participants, a higher poroportion of those who were in the CHOICES group chose partners that reduced their risk by the last visit than the e-Book group (p?=?.04). Study findings provide important insights for designing a national trial of the CHOICES intervention focusing on subjects whose partner status puts them at risk for having a child with SCD.  相似文献   

11.
We investigated individual- and couple-level associations between daily intimacy and affective states (N = 2211 observations) in 20 heterosexual emerging adult couples (age 18–25 years, M = 23) who had been in a sexual relationship with one another for at least 3 weeks (M = 12 months). Individual analyses revealed that emerging adults’ feelings of intimacy varied from day to day and that there were no gender differences in daily intimacy. Affect and intimacy were positively associated within day for women, but not for men. Time-lagged individual-level analyses revealed that prior-day positive or negative affect did not predict present-day intimacy for men or women. However, prior-day intimacy positively predicted present-day positive affect in men and negatively predicted present-day negative affect in women. Time-lagged couple-level analyses revealed that men’s prior-day positive affect positively predicted their female partner’s present-day intimacy. Women’s prior-day intimacy negatively predicted their male partner’s present-day negative affect. Implications of the day-to-day associations of intimacy with positive and negative affect within emerging adult couples are discussed.  相似文献   

12.
This retrospective investigation examined the association among childhood bullying victimization, multiple forms of victimization, and psychological functioning in a college sample. Four hundred-and-eighty-two undergraduate students participated in the study (M = 19.98 years, SD = 1.82). The sample included 65 % women. For race/ethnicity, 66.4 % were European-American (N = 320), 16.8 % African-American (N = 81). For grade level, 21.6 % were freshmen (N = 104), followed by 38.2 % sophomores (N = 184), 16.2 % juniors (N = 78), and 23.4 % seniors (N = 113). Participants completed a survey packet of measures assessing childhood bullying victimization experiences and current levels of psychological functioning. Findings indicated that bullying victimization significantly predicted greater levels of depression, anxiety, and post-traumatic stress (PTS) after controlling for other childhood victimization experiences. PTS symptoms were predicted by exposure to community violence and child abuse with bullying victimization was found to be the strongest predictor. College-level practitioners need to assess for a wide range of childhood victimization experiences, including bullying victimization.  相似文献   

13.
The present study aimed to update previous meta-analyses of gCBT, and focus specifically on recent studies in which the Beck Depression Inventory (BDI) was used to assess outcome. PsycINFO, PubMed, EMBASE, and Cochrane were searched for eligible studies. Both randomized controlled trials (RTC, k = 9) and non-RTCs (k = 1) published since 2000 were included. On the BDI large significant effect sizes were found for gCBT compared with treatment as usual (TAU, d = 4.64), wailing list controls (WLC, d = 1.20), and both of these comparison conditions combined with studies of well-defined alternative treatments (ALT, d = 1.61). On the BDI a moderate effect size (d = 0.53) was found for comparisons of gCBT and ALT groups. gCBT also had large and significant effects on depressive cognition assessed with the Automatic Thoughts Questionnaire and the Dysfunctional Attitudes Scale compared with WLC and ALT comparison groups (d = 2.66). This meta-analysis shows that gCBT is a robust intervention for depression in adults.  相似文献   

14.
This study examined whether working memory (WM), inattentive symptoms, and/or hyperactive/impulsive symptoms significantly contributed to academic, behavioral, and global functioning in 8-year-old children. One-hundred-sixty 8-year-old children (75.6% male), who were originally recruited as preschoolers, completed subtests from the Wechsler Intelligence Scale for Children–Fourth Edition, Integrated and Wechsler Individual Achievement Test–Second Edition to assess WM and academic achievement, respectively. Teachers rated children’s academic and behavioral functioning using the Vanderbilt Rating Scale. Global functioning, as rated by clinicians, was assessed by the Children’s Global Assessment Scale. Multiple linear regressions were completed to determine the extent to which WM (auditory-verbal and visual-spatial) and/or inattentive and hyperactive/impulsive symptom severity significantly contributed to academic, behavioral, and/or global functioning. Both auditory-verbal and visual-spatial WM but not ADHD symptom severity, significantly and independently contributed to measures of academic achievement (all p < 0.01). In contrast, both WM and inattention symptoms (p < 0.01), but not hyperactivity-impulsivity (p > 0.05) significantly contributed to teacher-ratings of academic functioning. Further, inattention and hyperactivity/impulsivity (p < 0.04), but not WM (p > 0.10) were significantly associated with teacher-ratings of behavioral functioning and clinician-ratings of global functioning. Taken together, it appears that WM in children may be uniquely related to academic skills, but not necessarily to overall behavioral functioning.  相似文献   

15.
Child depression is an impairing condition for which psychotherapies have shown modest effects. Parental depression is a risk factor for development of child depression and might also be negatively associated with child depression treatment outcomes. To explore this possibility, we analyzed data from a study in which children were treated for depression after parental depressive symptoms had been assessed at baseline. Among children treated for depression in a randomized controlled trial, we identified 31 who had child- and parent-report pre- and post-treatment data on child symptoms and parent-report of pre-treatment parental depressive symptoms. Children were aged 8–13, 77% boys, and 52% Caucasian, 13% African-American, 6% Latino, and 29% multi-racial. Analyses focused on differences in trajectories of change (across weekly measurements), and post-treatment symptoms among children whose parents did (n = 12) versus did not (n = 19) have elevated depressive symptoms at baseline. Growth curve analyses showed markedly different trajectories of change for the two groups, by both child-report (p = 0.03) and parent-report (p = 0.03) measures: children of parents with less severe depression showed steep symptom declines, but children of parents with more severe depression showed flat trajectories with little change in symptoms over time. ANCOVAs showed lower post-treatment child symptoms for children of parents with less severe depression versus parents with more severe depression (p = 0.05 by child report, p = 0.01 by parent report). Parental depressive symptoms predict child symptom trajectories and poorer child treatment response, and may need to be addressed in treatment.  相似文献   

16.
Quantitative measures of psychological resilience related to discrete stressors, such as interpersonal (IP) trauma, are lacking. The current study examined whether a novel, quantitative measure of resilience was related to decreased risk for a broad range of lifetime DSM-IV axis I disorders in an epidemiologic sample. Resilience was defined as the residual resulting from the difference between the individual’s predicted and observed PTSD symptom count, based on their cumulative exposure to IP traumatic events. Participants were 6288 adults (59.5% women; M age  = 46.9, SD = 14.5) from the National Epidemiologic Study on Alcohol and Related Conditions endorsing at least one lifetime IP traumatic event. Logistic regressions were conducted to examine the relationship between resilience and axis I diagnoses, covarying for age, sex, education level, social support, and recent stressful life events. Greater resilience scores were associated with decreased likelihood of major depression (OR = .64, p < .001), generalized anxiety disorder (OR = .65, p < .001), social anxiety disorder (OR = .74, p < .001), panic disorder (OR = .65, p <. 001), and alcohol dependence (OR = .85, p < .001). Discrepancy between expected and observed PTSD symptom severity based on IP trauma load may represent a useful, quantitative measure of resilience.  相似文献   

17.
We examined trajectories of academic and social functioning in children with attention-deficit/hyperactivity disorder (ADHD) to identify those who might be at risk for especially severe levels of academic and social impairment over time. We estimated a series of growth mixture models using data from two subsamples of children participating in the NIMH Collaborative Multisite Multimodal Treatment Study of Children with ADHD (MTA) including those with at least baseline and 96-month data for reading and mathematics achievement (n = 392; 77.3% male; M age = 7.7; SD = 0.8) or social skills ratings from teachers (n = 259; 74.9% male; M age = 7.6; SD = 0.8). We compared latent trajectories for children with ADHD to mean observed trajectories obtained from a local normative (i.e., non-ADHD) comparison group (n = 289; 80.6% male; M age = 9.9; SD = 1.1). Results indicated six latent trajectory classes for reading and mathematics and four classes for teacher social skills ratings. There was not only a relationship between trajectories of inattention symptoms and academic impairment, but also a similarly strong association between trajectory classes of hyperactive-impulsive symptoms and achievement. Trajectory class membership correlated with socio-demographic and diagnostic characteristics, inattention and hyperactive-impulsive symptom trajectories, externalizing behavior in school, and treatment receipt and dosage. Although children with ADHD display substantial heterogeneity in their reading, math, and social skills growth trajectories, those with behavioral and socio-demographic disadvantages are especially likely to display severe levels of academic and social impairment over time. Evidence-based early screening and intervention that directly address academic and social impairments in elementary school-aged children with ADHD are warranted. The ClinicalTrials.gov identifier is NCT00000388.  相似文献   

18.
Since its introduction four years ago, noninvasive prenatal screening for fetal aneuploidy (NIPS) has been widely adopted as a screening tool for women at a high risk for fetal aneuploidy. As use expands into the general population, questions arise concerning the integration of NIPS into preexisting screening paradigms. This study aims to examine the use of NIPS in current practice among prenatal counselors, predominantly in the United States, in order to inform strategies for the optimal use of both new and existing screening techniques. We electronically surveyed 208 members of the National Society of Genetic Counselors to ascertain how NIPS is currently being used. Genetic counselors were also queried as to the advantages and disadvantages of offering NIPS to all patients regardless of a priori risk. Results indicate substantial variation in practice regarding which patients are offered NIPS and how counselors have incorporated this technology into existing screening routines. The majority of participants report offering NIPS in conjunction with another method of screening for fetal aneuploidy, indicating that NIPS is being used as an addition rather than as a replacement. These screening methods primarily include nuchal translucency (NT) (45.1 %, n = 78) and first trimester serum screening, with or without an NT (19.7 %, n = 34). Furthermore, the majority report that they would be concerned about losing the clinical value of an NT in a complete transition to NIPS (85.4 %, n = 164). Counselors are evenly split on the merits of expanding the use of NIPS to the general population (con: 55.3 %, n = 105; pro: 44.7 %, n = 85). The lack of consensus suggests that updated practice guidelines might benefit counselors. In addition, respondents emphasized the need to better educate patients and providers about the risks, benefits, and limitations of the test.  相似文献   

19.
The Balloon Analogue Risk Task (BART) is a behavioral measure that is commonly used to assess risk taking propensity. The primary goal of the present study was to introduce a mobile version of the BART (mBART) that can be included within ambulatory assessment protocols to assess risk taking in daily life. Study 1 compared common BART indices (i.e., total money earned, adjusted average pumps, balloon explosions, and coefficient of variability [CV]) on a single administration of the laboratory BART on a computer and the mBART on a smartphone (n = 78). Results revealed generally consistent relationships between indices of risk taking propensity in both the laboratory BART and mBART. Study 2 administered the mBART as part of a 7-day ecological momentary assessment (EMA) protocol in a population of nondaily smokers (n = 51). Using multi-level models, results suggest that males have greater adjusted average pumps (p = .03), and that a participant’s average CV is negatively related to trait sensation seeking (p = .03) and positively associated with trait positive urgency (p = .04). There were within-person effects of study day (p = .05) and environment (p = .02) with respect to adjusted average pumps such that individuals took greater risks as the study progressed and were riskier when alone compared to with others. Inclusion of the mBART in EMA did not appear to significantly increase participant burden and demonstrated acceptable levels of compliance. These results offer initial evidence supporting the feasibility and utility of the mBART for ambulatory research designs.  相似文献   

20.
While off-time pubertal development has emerged as a potential risk factor for both symptoms of depression and anxiety in youth, the literature is mixed and inconsistent as to (1) how early versus late pubertal timing confers risk for both boys and girls, (2) if the conferred risk is distinct between symptoms of anxiety and depression, and (3) under what social contexts (e.g., family environment, peer relationships) off-time pubertal development may emerge as a potent risk factor for these symptoms. The present study examined the impact of perceived pubertal timing on symptoms of anxiety and depression in two distinct psychosocial contexts: parent’s perceptions of their own harsh parenting and parent’s perceptions of their child’s peer problems. The sample consisted of 412 parents (M = 38.6 years old, SD = 7.8, 60.4 % mothers) of children between the ages of 8 and 17 (M = 12.13, SD = 2.97, 45.4 % girls). All constructs were assessed by parent reports. Linear multiple regression analyses revealed that the interaction between earlier pubertal timing and greater peer problems was significantly related to higher youth depressive and anxiety symptoms. The interaction between earlier pubertal timing and greater harsh discipline was significantly related to higher youth anxiety but not depressive symptoms. Youth gender did not qualify findings. Results suggest that the contextual amplification process of early pubertal timing may occur in both high stress family and peer environments and impact both girls and boys.  相似文献   

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