A Pilot Study of Fragile X Syndrome Screening in Pregnant Women and Women Planning Pregnancy: Implementation,Acceptance, Awareness,and Geographic Factors

We report herein results of a study performed in the Balearic Islands which had the following goals: 1) Determine the proportion of pregnant or non-pregnant women planning pregnancy, who would choose to undergo a screening test for Fragile X Syndrome (FXS), if it is accompanied by the appropriate information; 2) Assess satisfaction and any increase in stress among women who participate in screening; 3) Collect epidemiological information about the incidence of the disease in our population; and 4) Collect demographic and health history data and assess participants’ awareness of the disease. Screening was performed on 3,731 pregnant and non-pregnant women of childbearing age and the results indicate: a very high voluntary rate of participation; a high level of self-reported satisfaction and low levels of stress because of the test; a very high incidence of premutation (1/106) in our population; and a low level of awareness about the existence of FXS (25 %). Additional findings indicate no significant correlation between self-reported health history and premutation detection, and the high premutation incidence does not seem to be specific to the indigenous Balearic population. Based on these results, we discuss the pros and cons of an implementation of preconception and pregnant women screening for FXS within a public health screening program.     

Development and Evaluation of a Decision Aid for BRCA Carriers with Breast Cancer

BRCA+ breast cancer patients face high risk for a second breast cancer and ovarian cancer. Helping these women decide among risk-reducing options requires effectively conveying complex, emotionally-laden, information. To support their decision-making needs, we developed a web-based decision aid (DA) as an adjunct to genetic counseling. Phase 1 used focus groups to determine decision-making needs. These findings and the Ottawa Decision Support Framework guided the DA development. Phase 2 involved nine focus groups of four stakeholder types (BRCA+ breast cancer patients, breast cancer advocates, and genetics and oncology professionals) to evaluate the DA's decision-making utility, information content, visual display, and implementation. Overall, feedback was very favorable about the DA, especially a values and preferences ranking-exercise and an output page displaying personalized responses. Stakeholders were divided as to whether the DA should be offered at-home versus only in a clinical setting. This well-received DA will be further tested to determine accessibility and effectiveness.     

Method,MacIntyre, and Pedagogy: Inviting Students to Participate in Theology as a Living Conversation

Teaching theology within academic institutions with confessional commitments and theologically conservative students requires holding together, in creative tension, two pedagogical goals. The challenge is to promote rigorous academic inquiry by encouraging student openness to engagement with perspectives that challenge their own beliefs while simultaneously constructing a course that is experienced as a safe space where students do not feel their personal faith is under attack. This essay presents the argument that a methodological framework for introductory theology courses informed by Alasdair MacIntyre's reflections on the nature of living traditions holds great promise for achieving these objectives. The essay will also describe how a creative extended analogy drawn from the game of basketball facilitates student comprehension of this initially abstract intellectual framework. Finally, the essay will offer some representative examples of student participation in course online discussion forums in order to illustrate the effectiveness of this approach for student learning.     

Duty to Re-Contact: A Study of Families at Risk for Fragile X

DNA testing for Fragile X syndrome is now routinely available through a large number of diagnostic laboratories. We have surveyed individuals from British Columbia Fragile X families identified prior to the availability of DNA testing for FMR1 to determine if they are subsequently receiving information about DNA testing. Of the 78 individuals first seen before the cloning of the FMR1 gene, 39 (50%) had not been seen in the clinic to discuss DNA testing. We initiated a contact program with these 39 patients to determine their interest in DNA testing. Contact was made with 28 individuals, 20 of whom stated interest in testing either for themselves or for a relative. Patient opinions about DNA testing were assessed through questionnaires. In those individuals who stated an interest in DNA testing, the most common reason for wishing testing was to provide information to children or grandchildren. The most common disadvantages of testing indicated by this group were that they had finished their families and that they felt the test would not have a direct impact. The most common reasons individuals were not interested in DNA testing were that there were no family members appropriate to test and that the respondent had completed his or her family. DNA testing has been performed for 13 of the 28 (46%) contacted individuals and/or at least one relative. In view of the high level of interest for testing in families who had not been seen since the cloning of the FMR1 gene, we feel that FMR1 screening programs should include actively contacting previously seen individuals.     

Development and Pilot Testing of a Decision Aid for Genomic Research Participants Notified of Clinically Actionable Research Findings for Cancer Risk

Germline genomic testing is increasingly used in research to identify genetic causes of disease, including cancer. However, there is evidence that individuals who are notified of clinically actionable research findings have difficulty making informed decisions regarding uptake of genetic counseling for these findings. This study aimed to produce and pilot test a decision aid to assist participants in genomic research studies who are notified of clinically actionable research findings to make informed choices regarding uptake of genetic counseling. Development was guided by published literature, the International Patient Decision Aid Standards, and the expertise of a steering committee of clinicians, researchers, and consumers. Decision aid acceptability was assessed by self-report questionnaire. All 19 participants stated that the decision aid was easy to read, clearly presented, increased their understanding of the implications of taking up research findings, and would be helpful in decision-making. While low to moderate levels of distress/worry were reported after reading the booklet, a majority of participants also reported feeling reassured. All participants would recommend the booklet to others considering uptake of clinically actionable research findings. Results indicate the decision aid is acceptable to the target audience, with potential as a useful decision support tool for genomic research participants.     

Development and Evaluation of a Decision Aid About Prenatal Testing for Women of Advanced Maternal Age

Objective: To develop and evaluate a decision aid designed to prepare patients of advanced maternal age for counseling about prenatal diagnostic testing. Setting: A regional genetics center. Design: A before/after study. Interventions: Participants used an audioguided workbook to learn about options and outcomes and to clarify personal risks, values, questions, and predispositions. Subjects: 21 women of advanced maternal age and 17 spouses. Main outcome measures: Knowledge of prenatal testing alternatives, decisional conflict, level of anxiety, and acceptability of the decision aid. Results: After using the decision aid, participants had significantly reduced decisional conflict (uncertainty) and a significant increase in knowledge. There was no effect on state or trait anxiety. More than three-quarters of participants were satisfied with the length, clarity, balance, and acceptability of the decision aid. Conclusions: The decision aid shows promise as a useful aid for preparing couples for counseling.     

A Pilot Study of a Co-parenting Intervention for Parents of Children with Autism Spectrum Disorder

Journal of Child and Family Studies - The aims of this pilot study are to evaluate the feasibility, acceptability, and preliminary efficacy of a peer-delivered co-parenting program, Autism Parent...     

Making the Decision to Participate in Predictive Genetic Testing for Arrhythmogenic Right Ventricular Cardiomyopathy

This paper describes the experience of predictive genetic testing for Arrhythmogenic Right Ventricular Cardiomyopathy in the context of novel gene discovery. Two approaches to making the decision to engage in genetic testing were apparent: the decision to be tested either (a) develops gradually over time or (b) happens so quickly that it is felt as a “fait accompli.” Six key factors that influenced the particular approach taken by the participants were identified: (1) scientific process—available and relevant predictive genetic test; (2) numerous losses or deaths within the family; (3) physical signs and symptoms of disease; (4) gender; (5) sense of relational responsibility or moral obligation to other family members; and (6) family support. This study found that at risk individuals juxtapose scientific knowledge against their experiential knowledge and the six identified factors in order to make the decision to participate in genetic testing. Recommendations include the creation of a relational space within which to provide psychological counselling and assessment for the six identified factors that shape the decision to engage in predictive genetic testing.     

A Pilot Study of the Development of a Measure Assessing Adolescent Reactions to Parents in the Context of Emotion Socialization

We conducted a pilot study of the initial development of a self-report measure assessing how adolescents react when parents respond in a helpful manner to their sad emotional experiences. Participants were late adolescents (ages 18–20) attending a large, racially diverse urban university (N = 86; 75% women; 46% racial/ethnic minority). A broad range of relationship-oriented literatures (e.g., early childhood and marital) were considered in creating items for the Adolescent Reactions to Parents (ARP) scale. A 3 factor solution (Accepting, Avoidant, and Attacking) appeared to provide the most parsimonious fit to the data. Adequate levels of reliability were observed for each of the three ARP subscales. Zero-order correlations among subscales of the ARP were moderate in strength. Findings indicated that participants who reported more avoidant and attacking reactions also reported more adjustment difficulties including emotion regulation difficulties and symptoms of depression. Results suggest that the ARP scale has the potential to be a valuable tool for advancing knowledge related to the socialization of emotions.     

Feasibility and Preliminary Efficacy of an Internet Support Group for Parents of a Child with Neurofibromatosis Type 1: a Pilot Study

This pilot study investigated the feasibility and preliminary efficacy of an Internet Support Group (ISG) for parents of children with NF1. Eligible parents were recruited by email and completed baseline questionnaires assessing social support, self-efficacy, depression, and anxiety. The ISG involved eight weekly 90-min chat sessions and a discussion forum open 24 h/day for 8 weeks. Follow-up measures were completed immediately post-intervention and 3 months later. Parents from 33 families (29 mothers, 4 fathers) completed baseline measures. Over half of parents (52 %) rated their child’s disease severity as mild, 33 % moderate, and 15 % severe. Among 21 parents who completed post-intervention measures, ratings of perceived emotional (p = .0008) and informational (p = .0003) support increased. There were no significant changes in self-efficacy, depression, or anxiety (ps > .05). The mean satisfaction rating was moderately high (7.6/10; range 4–10). Some parents commented that the chat sessions were at inconvenient times, which may have limited participation. Preliminary evidence in this small sample of parents suggests that ISGs may be a feasible and potentially efficacious method of providing support to parents of children with NF1. Having multiple weekly chat sessions held at various days and times may improve accessibility and participation. Clinicians are encouraged to help parents access online support resources.     

An Evaluation of a Holistic Program for at-Risk Teens and Their Parents

Increasing evidence indicates that adolescent behavior problems are related to family functioning. In general, findings have demonstrated the family’s critical role in facilitating developmental outcomes. This study evaluated a 6-week holistic program for at-risk teens and their parents entitled Creating a Responsible Thinker at baseline, post-test, and 3-month follow-up. Results demonstrated gender differences in the program’s effects on self-efficacy, specifically increased self-efficacy for females and reduced self-efficacy among males. Follow-up results suggested that teens reported better communication with their parents. These results underscore the appropriateness of a family-based approach to treatment for at-risk teens and their parents.     

A Pilot Study of Acute Stress Symptoms in Parents and Youth Following Diagnosis of Type I Diabetes

The primary aims of this exploratory study were to determine the rate of occurrence of acute stress disorder (ASD) in children newly diagnosed with Type 1 diabetes and their parents, to examine relationships with demographic and psychosocial factors, and to examine the relationships between ASD symptom clusters and early adherence behavior (clinic attendance). The sample consisted of 102 parents of children ages 0–17 years and 40 youth ages 11–17 who were evaluated within three days of diabetes diagnosis. Eighteen percent of parents and 17% of youth reported subthreshold symptoms of ASD. Acute stress symptoms and demographic variables predicted clinic attendance, with a differential pattern evident in the responses of youth and their parents. These findings reinforce the importance of screening symptoms of ASD in youth with newly diagnosed diabetes and their parents to assist in identifying families who may be in need of additional support.     

Development of a Communication Aid to Facilitate Risk Communication in Consultations with Unaffected Women from High Risk Breast Cancer Families: A Pilot Study

The literature on risk perception in women from high-risk breast cancer families reveals persistent over-estimation of risk, even after counseling. In this study, a communication aid was designed to facilitate discussion of risk between clinical geneticists and genetic counselors and women from this high-risk population. Method: Stage 1. The aid was developed by an expert panel of clinical geneticists, genetic counselors, psychologists, an epidemiologist, an oncologist, linguists and a consumer. It was guided by the international literature on risk communication and a large multi-centre Australian study of risk communication. The 13 page full-color communication aid used varying formats of words, numbers, graphs and pie-charts to address (a) the woman’s subjective risk; (b) the population risk of breast cancer; c) the risk of inherited breast cancer; (d) the cumulative risk for women with BRCA1 and BRCA2 mutations; (e) family risk factors; (f) the woman’s suitability for genetic testing; (h) screening and management recommendations, and (i) a re-assessment of the woman’s subjective risk. Stage 2: A before–after pilot study of 38 women who were unaffected with breast cancer and were attending four Australian familial cancer clinics was undertaken. Baseline and follow-up questionnaires were completed by 27 women. Outcomes were compared to those observed in 107 similar women undergoing genetic counseling without the communication aid in 2001. Results: The risk communication aid appears to be beneficial; breast cancer genetics knowledge improved in some areas and importantly, risk perceptions improved in the cohort receiving the communication aid. Psychological measures showed no difference in anxiety or depression between the group receiving the communication aid and the comparison cohort. Women and clinicians were very positive about the usefulness of the communication aid as an adjunct to the genetic counseling consultation.