Predictive Genetic Testing in Children: Constitutional Mismatch Repair Deficiency Cancer Predisposing Syndrome

Biallelic germline mutations in mismatch repair genes predispose to constitutional mismatch repair deficiency syndrome (CMMR-D). The condition is characterized by a broad spectrum of early-onset tumors, including hematological, brain and bowel and is frequently associated with features of Neurofibromatosis type 1. Few definitive screening recommendations have been suggested and no published reports have described predictive testing. We report on the first case of predictive testing for CMMR-D following the identification of two non-consanguineous parents, with the same heterozygous mutation in MLH1: c.1528C > T. The genetic counseling offered to the family, for their two at-risk daughters, is discussed with a focus on the ethical considerations of testing children for known cancer-causing variants. The challenges that are encountered when reporting on heterozygosity in a child younger than 18 years (disclosure of carrier status and risk for Lynch syndrome), when discovered during testing for homozygosity, are addressed. In addition, the identification of CMMR-D in a three year old, and the recommended clinical surveillance that was proposed for this individual is discussed. Despite predictive testing and presymptomatic screening, the sudden death of the child with CMMR-D syndrome occurred 6 months after her last surveillance MRI. This report further highlights the difficulty of developing guidelines, as a result of the rarity of cases and diversity of presentation.     

Busy lifestyles and mammography screening: Time pressure and women’s reattendance likelihood

Time pressure is often cited as a reason for non-attendance at mammography screening, although evidence from other areas of psychology suggests that time pressure can improve performance when barriers such as time pressure provide a challenge. We predicted that time pressure would negatively predict attendance in women whose self-efficacy for overcoming time pressure is low, but positively predict attendance when self-efficacy is high. Time pressure was operationalised as the self-reported number of dependent children and others, and average number of working hours per week. Australian women were surveyed after being invited to attend second or subsequent screenings at a free public screening service, and subsequent attendance monitored until six months after screening was due. The majority (87.5%) attended screening. Women with more dependent children and higher self-efficacy showed greater attendance likelihood, and women with fewer non-child dependants and lower self-efficacy were less likely to attend. Working hours did not predict attendance. Findings provide partial support for the idea that time pressure acts as a challenge for women with high self-efficacy.     

Predicting Compliance in Group CBT Using the Group Therapy Questionnaire

This study examined the clinical applicability of the Group Therapy Questionnaire (GTQ) for identifying individuals at risk of poor attendance in cognitive-behavioral therapy (CBT) groups for depression, anxiety, and obsessive-compulsive disorder (OCD). Participants (n = 80) completed the GTQ prior to their involvement in one of five types of CBT groups. Participants’ attendance was recorded by the group therapists. Findings revealed that patients’ expectations of group were associated with attendance. Level of interpersonal difficulty, health issues, and drug and alcohol use—as assessed by the GTQ—were not associated with attendance. A shorter version of the GTQ with questions tapping expectations of group participation would provide a valuable screening tool to aid clinicians in identifying clients at risk for low attendance.     

Barriers to Adherence to Child Assessment Recommendations

We conducted a one-year follow-up study of child psychoeducational assessment cases to examine whether and how the assessments were helpful to families. The current report focuses on parents’ views of their child’s assessment as well as the parents’ adherence with the written recommendations provided to them following their child’s assessment. Fifty-one of 72 eligible parents whose child received an assessment in an urban, Midwest university clinic participated. Based on semistructured interviews with the parents about the assessment recommendations, we grouped the recommendations and any barriers to adherence the parents mentioned into categories, and we also rated the clarity and complexity of the recommendations. Findings showed that, on average, parents identified the assessment process as useful and attempted or fully adhered to 71.5?% of recommendations. Parents reported the lowest adherence when referrals were recommended for their child to be seen by other professionals such as a pediatrician or psychiatrist; and they cited significantly more stigma barriers for recommendations to seek counseling/therapy or psychotropic medication than for recommendations pertaining to changes at home or school. Higher parental compliance was predicted by a combination of parents reporting fewer barriers and receiving more home based recommendations. The results support the utility of psychological assessments from parents’ perspectives and suggest ways in which psychologists may increase the likelihood that parents will adhere to their recommendations.     

Building a Tool to Identify Risk for Lynch Syndrome Among Individuals Presenting for Screening Colonoscopy

The goal of this work was to build and pilot-test a user-friendly Lynch syndrome risk assessment tool among individuals presenting for routine screening colonoscopy. Participants included adults presenting to a private practice-based, open-access endoscopy unit. Working with health literacy experts and gastroenterologists, and based on established criteria, we developed a simplified tool to assess Lynch syndrome risk, pre-procedure. A pilot-test of the tool assessed its: 1) clinical utility; 2) patient-reported usability; and 3) feasibility. The tool, in paper format, was written at a 9th grade reading level and included instructions for use followed by seven Lynch syndrome risk-related questions, structured such that one “Yes” response signified potential risk. A pilot-test of the tool among 334 patients revealed that 29 met criteria for Lynch syndrome risk. Of these, following telephone review of their responses, risk was confirmed in 9 patients (3% of total). The tool was reported as easy-to-use and was seen as feasible for use. Limitations include: 1) the need for infrastructure to distribute and collect the tool and 2) the availability of knowledgeable staff to review tool responses, confirm risk, and facilitate appropriate referral for genetic counseling. These data suggest that the tool affects assessment of Lynch syndrome risk among the routine colon cancer screening population.     

Achievement motive,autonomous motivation,and attendance at fitness center: A longitudinal prospective study

ObjectivesThe aim of this study was to test whether achievement motive, autonomous forms of exercise motivation (intrinsic motivation, identified regulation), and controlled forms of exercise motivation (introjected regulation, external regulation) would predict gym attendance over 30 consecutive weeks in a sample of new gym members.DesignA longitudinal prospective study with four distinct measurement occasions was employed. Psychological variables and gym attendance were assessed in the first, fourth, 15th, and 30th week after starting the membership.MethodParticipants were 229 new gym members. The implicit achievement motive was measured using the Picture Story Exercise. The explicit achievement motive and exercise motivations were measured with questionnaires. Gym attendance was obtained via self-reports and also recorded electronically. Multilevel growth modeling was used as the main analysis method.ResultsParticipants overestimated their self-reported gym attendance; the overall gap between self-reported and actual attendance was 39%. The achievement motive did not predict participants’ gym attendance over the 30-week period, neither for self-reported nor for actual. The effect of autonomous motivation was mixed. Intrinsic motivation predicted self-reported, but not actual, gym attendance over the 30-week period, whereas the evolution of intrinsic motivation was unrelated to gym attendance. Identified regulation was unrelated to gym attendance, but the increase in identified motivation over time positively predicted both self-reported and actual gym attendance. Controlled motivation was unrelated to gym attendance.ConclusionsContinuous and regular participation in an exercise program is more likely when individuals enjoy the program and consider it personally important.     

The Long-Term Effects of Group-Based Psychological Interventions for Children With Tourette Syndrome: A Randomized Controlled Trial

This randomized controlled trial examined the long-term effects of group-based psychological interventions on measures of tic severity, self-reported quality of life (QOL), and school attendance. Children (n = 28) with Tourette syndrome (TS) were assessed 12 months after completing a course of either group-based Habit Reversal Training (HRT) or Education.Both groups demonstrated long-term improvement in tic severity and QOL, which included significant continued improvement during the follow-up (FU) period. Both groups also showed significant posttreatment improvement in school attendance. Further research is required to explore potential therapeutic mechanisms, independent or mutual, which may underlie long-term symptom improvements.     

Increasing attendance at colorectal cancer screening: testing the efficacy of a mailed, psychoeducational intervention in a community sample of older adults.

This article describes a trial of a psychoeducational intervention designed to modify negative attitudes toward flexible sigmoidoscopy screening and thereby increase screening attendance. The intervention materials addressed the multiple barriers shown to be associated with participation in earlier studies. Adults ages 55-64 (N = 2,966), in a "harder-to-reach" group were randomized either to receive an intervention brochure or to a standard invitation group. Attitudes and expectations were assessed by questionnaire, and attendance at the clinic was recorded. Compared with controls, the intervention group had less negative attitudes, anticipated a more positive experience, and had a 3.6% higher level of attendance. These results indicate that psychoeducational interventions can provide an effective means of modifying attitudes and increasing rates of screening attendance.     

EFFECTIVENESS OF AN ATTENDANCE CONTROL POLICY IN REDUCING CHRONIC ABSENTEEISM

An attendance control policy based on the Katz and Kahn (1966) motivational pattern of legal compliance was implemented in one department of a large manufacturing organization with two comparable departments serving as controls. A pre-post measure of absenteeism served as the criterion in a 2 × 3 factorial analysis of variance. The factors were the attendance control policy and 3 levels of absence groups (high, average, and low). It was hypothesized that a control policy based on legal compliance would lead to a meaningful reduction in absenteeism among high absence workers who were considered to be chronic absentees by the organization. The results supported the effectiveness of the attendance control policy among chronically absent workers, although the policy did not lead to improvements in attendance among regular attenders. The implications of the study are discussed in the context of organizational efforts to control chronic absenteeism.     

Tumor Screening in Beckwith-Wiedemann Syndrome: Parental Perspectives

Children with Beckwith-Wiedemann Syndrome (BWS) and Isolated Hemihypertrophy (IHH) are at an increased risk for developing tumors. Tumor screening in this population is currently being reassessed by several groups and the effect on patients and patient-families has been argued both as a reason to screen and not to screen. Parental perspectives on this topic have never been systematically addressed for the BWS population. Here, we conducted a parent-based survey to evaluate knowledge and attitudes toward tumor screening in patients affected by BWS/IHH. A total of 261 surveys were completed. Overall, parents reported that screening decreased their worry and did not feel that screening increased worry or created a burden. This effect was observed across various demographic variables and other factors examined. Almost all significant differences observed could be attributed to parental knowledge of tumor risk. Parents who correctly identified their child’s tumor risk were more likely to agree with stratified screening recommendations according to BWS type and risk, and were less likely to feel worried if recommendations were changed. These results highlight the need to educate families about their child’s genetic type and tumor risk in order to facilitate an informed decision about tumor screening.     

The role of STI-related attitudes on screening attendance in young adults

This study assessed whether attitudes towards STI screening, visiting a clinic and having an STI (STI stigma) predict STI screening attendance in young adults. Participants (N = 217) rated each of these attitudes and completed measures assessing their STI knowledge, past sexual behaviour and sexual health. STI stigma and having favourable attitudes towards STI screening positively predicted screening attendance. People were less likely to attend if they had a negative attitude towards visiting sexual health clinics. Researchers should assess attitudes towards the attitude object (screening), condition (STI stigma) and process (visiting a clinic) to understand the different ways that attitudes predict behaviour.     

Breast Cancer Risk Assessment at the Time of Screening Mammography: Perceptions and Clinical Management Outcomes for Women at High Risk

The purpose of this study was to evaluate the utility of a breast cancer risk assessment (BCRA) at the time of screening mammogram. Women whose BCRA indicated a high risk for cancer received a letter with instructions for breast health care and genetic counseling if appropriate. After 6 months this group received surveys to evaluate their risk perception and their recall of, and compliance with, recommendations. We also explored the impact of other variables such as a recommendation for genetic counseling and physician communication with the women. After the BCRA, the majority of high risk women reported no change in their perceived risk of cancer. A woman’s perceived risk of cancer after a BCRA was significantly associated with her recall of recommendations for breast health care, but not with compliance. A recommendation for genetic counseling was not significantly related to women’s perceived risk of cancer after the BCRA. Ten percent of women who should have obtained genetic counseling actually completed an appointment. Women who discussed their BCRA results with their physicians were more compliant with a six month breast exam with a doctor (53% vs 17%, p = 0.018). Overall, women felt that the BCRA was helpful and did not cause undue stress or anxiety. Although the cohort’s compliance with recommendations was suboptimal, physicians’ interactions with their patients may have a positive influence on their compliance.     

Current Lynch Syndrome Tumor Screening Practices: A Survey of Genetic Counselors

An electronic survey of the National Society of Genetic Counselors Cancer Special Interest Group was conducted in July 2011 to assess Lynch syndrome tumor screening programs and identify barriers to implementation. Over half of respondents (52.8 %) reported having a routine Lynch syndrome tumor screening protocol for newly diagnosed colon and/or endometrial cancers, and approximately half of these used a universal approach. There was an increase in the number of those screening over time, especially in the past 3 years. Tumor screening methods varied; 34/53 (64.2 %) started with immunohistochemistry, 11/53 (20.8 %) started with microsatellite instability testing and 8/53 (15.1 %) performed both on newly diagnosed colorectal tumors. Just 21.7 % (23/106) of respondents indicated they have a tumor screening program in place for newly diagnosed endometrial cancers. Written consent is rarely obtained (7.1 %) and the method of how results were returned to the patient was variable among respondents. Prevalent barriers to implementation were concern about cost, bringing key players together and convincing medical staff of the necessity. Use of Lynch syndrome tumor screening is in clinical practice, but protocols vary widely. This survey provides a glimpse of current practices and common barriers, and identifies the need for tumor screening algorithms with outcomes data.     

Exploring the effect of therapists' treatment practices on client attendance in community-based care for children

Sustained treatment attendance has been reported to be poor in publicly funded community-based clinic settings serving children and families. Several child and family characteristics have been shown to predict attendance in community-based care, but virtually no research has been conducted to examine how experiences in care, including psychotherapists' within-session practices, influence client attendance. The goal of this exploratory study was to examine how observed practice within sessions, in particular the extent to which therapists delivered elements consistent with evidence-based practices, impacts total number of sessions attended, while accounting for an array of other potential predictors. Participants include 181 children ages 4-13 and their parents entering a new episode of care for disruptive behavior problems in publicly funded clinics. Data sources include administrative billing records on treatment attendance; coded videotaped treatment sessions; and self-reports from children, parents, and therapists. Results indicate that parent education, service funding source, parent alliance with therapist, and therapist experience predicted number of sessions attended; intensity of evidence-based treatment techniques delivered to children was marginally associated with attendance (p = .059). Implications for improving engagement in community-based care are discussed.     

Genetic Risk Assessment for Women with Epithelial Ovarian Cancer: Referral Patterns and Outcomes in a University Gynecologic Oncology Clinic

Little is known about genetic service utilization and ovarian cancer. We identified the frequency and outcome of genetic counseling referral, predictors of referral, and referral uptake for ovarian cancer patients. Using pathology reports, we identified all epithelial ovarian cancer patients seen in a university gynecologic oncology clinic (1/04–8/06). Electronic medical records (EMR) were used to document genetic service referral, time from diagnosis-to-referral, point-in-treatment at referral, personal/family cancer history, demographics, and genetic test results. Groups were compared using chi-squared and Fisher’s exact test for categorical variables and t-tests for continuous variables. The study population consisted of 376 women with ovarian cancer, 72 (19 %) of who were referred for genetic counseling/testing, primarily during surveillance. Of those referred, 42 (58 %) had personal or family genetic counseling and 34 (47 %) were ultimately tested or identified due to known family mutation. Family history and prior cancer were associated with referral. Family history, living in a larger community, higher-stage disease, and serous histology were associated with undergoing genetic counseling. Risk assessment identified 20 BRCA1/2 (5.3 %) and 1 HNPCC (0.3 %) mutation carriers. Based on recent estimates that 11.7–16.6 % of women with ovarian cancer are BRCA carriers and 2 % are HNPCC carriers, results suggest under-identification of carriers and under-utilization of genetic services by providers and patients. Interventions to increase medical providers’ referrals, even in a specialized oncology clinic, are necessary and may include innovations in educating these providers using web-based methods. Ease of referral by the introduction of an electronic cancer genetic referral form represents another new direction that may increase genetic risk assessment for high-risk women with ovarian cancer.     

Single Session Psychology Clinic for Parents of Children with Autism Spectrum Disorder: A Feasibility Study

Children are being diagnosed with autism spectrum disorder at much higher rates than in the past, with the increasing rates arising primarily from the broadened diagnostic criteria and increased public and professional awareness of the disorder. In turn, this has resulted in increased demands for psychological services, which many service providers struggle to meet. Single session clinics are an innovative form of intervention which can facilitate quick access to psychological services, without the burden of lengthy waiting times. This feasibility study examined the nature of presenting problems, attendance rates and parental satisfaction with a single session clinic for parents of children with autism spectrum disorder. The service offers short one-to-one consultation with a psychologist and sessions can be booked up to one month in advance. The single session clinic was developed to provide individual intervention to families within the constraints of an overwhelmed service. Good attendance rates and relatively high satisfaction suggest the single-session consultation for parents of children with autism spectrum disorder is an acceptable form of service. Limitations include the a need for more detailed evaluation of the impact of the sessions on both parental anxiety and child outcomes, and to identify more clearly who may benefit most from this model.     

Teenagers,contraception, and pregnancy

The Hospital of the University of Pennsylvania started a family planning counseling program for teenage nulliparae in a nearby public high school in 1973-1974. Educational, informal counseling, and discussion sessions were held in the school on a weekly basis by a social worker, family planning nurse, family planning counselor, and male outreach worker. Following the classes, almost half the girls attended the hospital's Teen Clinic for physical examination and contraceptive supplies. Parental permission was not necessary for attendance at the classes or at the hospital clinic. A second program was started at another school in the year 1974-1975. The goal of the program was to offer family planning information in the early teen years and prevent unwanted pregnancy.     

‘Seeking permission’: an interviewing stance for finding connection with hard to reach families

The systemic therapy literature is dominated by clinic‐based accounts of therapy. The work of an outreach, home‐based therapy team is described, in a tradition of systemic therapies which directly seek to challenge service access constraints and social injustice. In paying careful attention to the micro‐interactions of initial contact, seeking permission is suggested as an interviewing stance for connecting with families who are not engaged with services, where there have been histories of partner violence.     

The Relationship Between Religious Service Attendance and Coronary Heart Disease and Related Risk Factors in Saskatchewan, Canada

Research suggests that attending religious services could provide small yet important protective benefits against coronary heart disease (CHD) and CHD risk factors (e.g., diabetes, hypertension). The extent to which these benefits apply to Canada deserves study because approximately one-third of adult Canadians attend religious services at least monthly. Therefore, the objective of this study is to examine the association between frequency of religious service attendance and prevalence of (1) CHD, (2) diabetes, and (3) hypertension in Canada. We used the Saskatchewan sample (n = 5,442) of the Canadian Community Health Survey (CCHS-4.1) and built multivariable logistic regression models to evaluate associations between religious service attendance and self-reported CHD, diabetes, and hypertension. After controlling for demographic, socioeconomic and health behavior variables, the association between religious service attendance and prevalence of CHD was not significant (OR = 0.82; 95 % CI 0.61–1.11). However, persons who attended religious services more than once a week exhibited lower prevalence odds of diabetes (OR = 0.60; 95 % CI 0.45–0.80) and hypertension (OR = 0.82; 95 % CI 0.68–0.99) compared to persons who attended less than once a year. The findings of this study are the first to suggest religious service attendance may be associated with a lower prevalence of CHD risk factors in Canada.