Psychosocial Distress and Knowledge Deficiencies in Parents of Children in Ireland Who Carry an Altered Cystic Fibrosis Gene

Significant gaps have been identified in parental understanding of CF newborn screening and the consequences of carrying an altered CF gene. Seven potential causes of psychosocial adversity arising from false positive newborn screening for CF have been identified. The current study aimed to increase parents understanding of CF, reduce their levels of stress, and investigate psychosocial adversity arising from false-positive screening. This national study was run over one year in the Republic of Ireland. Parents were recruited for the study following a diagnostic sweat test confirming their child carried a single altered CF gene. Parents were randomly assigned into a control and intervention group, with those in the intervention group receiving a carefully designed information pack. All parents took part in semi-structured interviews. Parents (n = 16) who received an information pack had significantly higher CF knowledge scores than parents (n = 16) in the control group. 66% of parents in the control group misunderstood the health implications of carrying an altered CF gene, no parents in the intervention group had the same misunderstanding. There was no significant difference in stress scores between the groups. Parents of infants who had more than one sweat test due to insufficient sweat quantity had higher overall stress percentiles (50%), than parents of infants who had one sweat test (30%), indicating greater parental stress. The combination of written and audio-visual information contained in the information pack successfully increased parents comprehension of CF. The study also evaluates the potential for psychosocial adversity following false positive newborn screening for CF.     

Hispanic Infants with Cystic Fibrosis Show Low CFTR Mutation Detection Rates in the Illinois Newborn Screening Program

States develop specific protocols for cystic fibrosis (CF) newborn screening to reflect the population served. We hypothesized that mutation distribution and detection rates would differ between Hispanic and non-Hispanic CF patients diagnosed by IL newborn screen with more Hispanic infants carrying mutations not detected by the state panel. Data from CF cases diagnosed via newborn screen in IL between 3/1/2008 and 10/31/2010 were reviewed. More Hispanic infants with CF had one or more undefined mutations after screening, in comparison to non-Hispanic Caucasian patients (40% vs. 9.5%; p?相似文献   

Attitudes of high school students toward carrier screening and prenatal diagnosis of cystic fibrosis

The identification of the common mutations of the cystic fibrosis (CF) transmembrane conductance regulator gene has made it feasible to consider population-based CF carrier screening. However, the demand for such programs will depend largely on the attitudes and perceptions of the general public toward genetic testing. As part of a high school science project, we initiated studies to determine the attitudes of high school students toward carrier screening for CF and other genetic disorders. From a class of 120 biology students, 101 consented to participate in the study. Most of the students were of European ancestry and there were no known family histories of CF. Buccal swabs were obtained for PCR amplification and heteroduplex detection of the most common CF mutation (F508). The students and their corresponding buccal swabs were assigned random numbers and the results were kept confidential unless the student requested his/her test result. A questionnaire was used to assess the students' attitudes toward carrier screening and prenatal diagnosis. This questionnaire was given both before testing and after the class was informed that three individuals were carriers of the F508 mutation. Overall, the data indicate that high school students are receptive to the concepts of carrier screening and prenatal diagnosis. However, their attitudes changed considerably when informed of the possibility that they might actually be a F508 carrier, with marked increases in the level of indecision. At the conclusion of the study, very few students (5/101) requested information about their F508 carrier status.     

Cystic Fibrosis Prenatal Screening in Genetic Counseling Practice: Recommendations of the National Society of Genetic Counselors

For over a decade, prenatal screening for cystic fibrosis (CF) has been considered a model for the integration of genetic testing into routine medical practice. Data from pilot studies and public policy discourse have led to recommendations by some professional organizations that CF screening should be offered or made available to pregnant women and their partners, and to couples planning a pregnancy. It is crucial that genetic counselors gain thorough understanding of the complexities of CF and the implications of positive test results, so that they may serve as a reliable, educated referral base and resource for health care providers and their patients. While not all pregnant women will be referred for genetic counseling prior to CF carrier testing, genetic counselors often will be asked to counsel clients after they have a positive test result, or who are found to be at increased risk. Genetic counselors can play an important role in providing accurate and current information as well as support for patients informed decisions. These recommendations were created by a multicenter working group of genetic counselors with expertise in CF and are based on personal clinical experience, review of pertinent English language medical articles, and reports of expert committees. The recommendations should not be construed as dictating an exclusive course of management, nor does the use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care providers professional judgment based on the clinical circumstances of a particular client.     

Adjunct Prenatal Testing: Patient Decisions Regarding Ethnic Carrier Screening and Fluorescence In Situ Hybridization

Little has been reported regarding how women make decisions about genetic carrier screening for Ashkenazi Jewish genetic disease and cystic fibrosis (CF), and for fluorescent in situ hybridization (FISH) during pregnancy. Thirty-seven women who underwent genetic counseling and prenatal diagnosis were interviewed about their prenatal decision making. Respondents were largely Caucasian (95%), and undergoing prenatal diagnosis because of maternal age (78%). Sixty-three percent of those who reported having genetic carrier screening correctly defined it; 83% felt positively about it. Primary reasons reported for electing screening were: to get information, to be prepared, perception of risk, wanting peace of mind and percieved inability to care for an affected child. Women who declined screening felt they had very little or no risk, and some were deterred by cost. Ninety-five percent of respondents elected to have FISH; most were motivated by its speed in providing information and peace of mind or by timing of when the procedure was performed. Those who declined FISH reported being less concerned about having an affected child, receiving bad news, or waiting 2 weeks for results and slightly less affected by their feelings toward medical testing or physician's suggestion. These findings suggest decision-making factors differ between those electing and declining adjunct prenatal testing and increased knowledge about these factors may impact the way in which these services are offered by health care professionals. Prospective research with a larger population will be useful in further delineating the factors that influence prenatal decisions about adjunct testing measures.     

Teaching medical staff psychological concepts via a hospital newsletter

Despite the increased recognition of the critical role of social and psychological factors in health and illness, the teaching of psychology is rarely integrated in medical education. Staff generally have minimal formal training in psychological concepts. Patients on the inpatient rehabilitation unit frequently present with unexpected reactions in response to acute trauma and resulting changes in identity and capabilities. Rehabilitation goals therefore, must be based on psychological, as well as physical, capacities. A one-page, user-friendly newsletter was designed to illustrate basic psychological principles via case vignettes. The topics of fear, countertransference, and resistance were selected as critical issues staff frequently encounter in their work with patients. The newsletters provided the staff with basic conceptual tools for effectively treating patients, and the work of psychologists was demystified. The newsletter format is proposed as a creative adjunct to didactic teaching.Copies of the newsletter Insight can be obtained by request from Dr. Gold.     

How patients’ representations of cystic fibrosis-related diabetes inform their health behaviours

Background: Although diabetes is a frequent complication of cystic fibrosis (CF), patients’ behaviours tend not to comply with best practice recommendations. Using Leventhal’s Common-Sense Model, we address this issue by exploring patients’ representations of CF-related diabetes (CFRD) to better understand the discrepancy between patients’ expected and observed health behaviours.

Methods: Semi-structured individual interviews were conducted with patients (n = 39) in six CF clinics in Quebec, Canada. These interviews were part of a larger research project on screening and management practices for CFRD.

Results: Illness representations differed between two groups of interviewed patients: (1) one group had either CF without dysglycemia or CF with impaired glucose tolerance; and (2) the other group had CFRD. Both representations were internally consistent and encompassed Leventhal’s five dimensions of illness representation: illness identity, cause, timeline, consequences and control.

Conclusions: Patients require specific information on CFRD. The screening phase could be a crucial time to help patients adjust their representations to fit the reality of CFRD.     

Long-term Evaluation of Genetic Counseling Following False-Positive Newborn Screen for Cystic Fibrosis

This cross-sectional mixed method study was a long-term follow-up evaluation of families who participated in an earlier survey of their understanding of cystic fibrosis (CF) genetics and their infants’ false-positive CF newborn screening (NBS) results. Thirty-seven of the original 138 parents participated in the follow-up telephone survey. Results showed parents who received genetic counseling at the time of their infants’ diagnostic sweat tests had significantly higher long-term retention of genetic knowledge than those without genetic counseling. However, both groups still had misconceptions and lacked accurate information about the actual risk associated with being a CF carrier. Most parents either had already informed (65%) or planned to inform (19%) their children about the child’s carrier status. Mean child age at the time of disclosure was 9.2 years. Situational prompts were the most common reasons for informing their children. Neither parental knowledge, medical literacy, nor parental education predicted whether parents informed their children about their carrier status. False-positive NBS results for CF were not associated with parental perceptions of child vulnerability 11–14 years after the testing. Although the sample from this study was small, these findings underscore the benefits of genetic counseling at the time of the diagnostic sweat test and offer information that can assist parents in talking with their children about the implications of having one CFTR mutation.     

Developing physical activity interventions for youth with cystic fibrosis and congenital heart disease: Learning from their parents

Despite the benefits of physical activity for youth with cystic fibrosis (CF) and congenital heart disease (CHD), most are insufficiently active. More information is required on how to facilitate physical activity in these populations. Although there are no studies that provide information about participation in CF and CHD youth from the perspective of parents, the involvement of caregivers may be an important facilitator to physical activity in youth with chronic diseases.

Objective

This qualitative study explored how the parents of youth with CF and CHD experience physical activity, and parents commented on both their own and their child’s physical activity.

Methods

Twenty-nine parents from a CHD and CF clinic participated in a semi-structured interview, and a thematic analysis of the transcribed data was undertaken.

Results

Parents discussed the numerous benefits and barriers associated with physical activity for both child and self. Role modeling was a critical social process to overcoming barriers. Parents experiences were situated within the broader family context characterized by a prevailing sense of stress and complexity.

Conclusion

By illustrating how the parents of youth with CF and CHD understand the role of physical activity in their and their child’s life, this study provides valuable information regarding the development of interventions to increase physical activity among children with CF and CHD.     

Between Science and Nature: Interpreting Lactation Failure in Elizabeth von Arnim's The Pastor's Wife

Interpreting a scene of lactation failure allows us to represent breast-feeding as a contested social practice. This essay reads a novelistic scene of lactation failure in the context of the decline of breast-feeding in the twentieth century. The protagonist's ignorance of the female experiences of pregnancy, childbirth, and lactation is an effect of her objectification within the opposition between science and nature. Unnatural as a woman because she is a natural individual, the pastor's wife exemplifies the dilemmas of breast-feeding as a biosocial practice of maternity in a technological society which features the breakdown of traditional female networks in which knowledge about maternity and breast-feeding are circulated.     

Group building: Developing protocols for psychoeducational groups

Short-term, focused and targeted groups have become a staple in the mental health field and in the general cultural intervention milieu. This paper presents a model for group building aimed at guiding the group leader in constructing, organizing and ordering such psychoeducational groups. This model is applicable to a range of themecentered groups, addressing a variety of specific symptoms, habits, developmental milestones, organizational problems, or normative life crises. First, the defining characteristics of psychoeducational groups will be discussed. Subsequently, the steps in building group protocols will be outlined, including the use of phase-specific group dynamics and curative variables. To demonstrate the utility and generalizability of the model, two populations with extremely diverse thematic foci, a latency incest and a smoking cessation group, will be used to illustrate the ordering of the group protocol and the building of appropriate didactic structures. This paper is intended as a companion to an earlier one in this journal (Ettin et al., 1987), which considered the management of group process in just these types of nonprocess groups.     

Disparities in Current and Future Childhood and Newborn Carrier Identification

International carrier testing guidelines discourage testing in childhood to preserve autonomous decision making and prevent detrimental psychosocial consequences. Despite the discouragement of autosomal recessive carrier testing during childhood, some sickle cell disease (SCD) or cystic fibrosis (CF) carriers are incidentally identified through UK and international newborn screening (NBS). This creates a scenario where parents may have knowledge of their newborn’s, but not older child’s carrier status. In addition, there is wide variation in the identification of CF and SCD carriers due to the screening technologies implemented by different NBS programs. The current and future availability of childhood testing are determined to some extent by the impact of testing on children and parents (whether this is beneficial or detrimental to wellbeing). However empirical research informing carrier guidance and practice is conflicting. Echoing previous calls, this discussion highlights the need for further qualitative and longitudinal research with children to consider the psychosocial impact of carrier testing on children and role of disclosure from parents on adaptation to results. It is recommended that professionals aim to minimize harms resulting from carrier identification by providing support for parents and children following NBS. Support for non-genetics specialists from genetic counselors to enable discussion of carrier results with children is suggested.     

Toward the Formation of a “Cultural Mosaic”: A Case Study

This study describes an intervention designed to promote integration between Ethiopian and Israeli students (N = 93) in Grades 2 to 5 and adaptation of these immigrants to school norms of behavior and to discipline. The metaphor of cultural mosaic was used for describing the goal state. To achieve a comprehensive school reform, the curriculum was enacted on four levels: individual student, school and classroom, staff, and community (parents and local council). The intervention effects were evaluated in three domains via questionnaires, interviews, and observations – the domains being the academic, behavioral, and personal-social realms. Four stages were identified in the process: an opening stage, the euphoria stage, the setback stage, and the final stage of a new equilibrium. Results suggest that both the natives' and the immigrants' needs and difficulties have to be attended to in each of the stages. The social domain was found to be the most salient in the integration process, although integration within it may take less time and be more feasible than academic accommodation.     

Training Genetic Counselors to provide teratogen counseling

Provision of teratogen counseling requires acquisition of knowledge and skills from several disciplines. Traditionally, training in teratogen counseling has occurred on the job. We describe a formal, didactic and experiential curriculum for teratogen counseling as an integral part of the Graduate Program in Genetic Counseling leading to the master of science degree at Northwestern University. All students complete a 5-week rotation with the Coordinator of the Illinois Teratogen Information Service (TIS). This provides them with an opportunity to evaluate a spectrum of teratogen exposures, to interpret teratogen studies in a manner useful for patients, and to develop skills in assessing and addressing psychosocial issues associated with fetal exposure to potential teratogens. Students also learn first hand about how a TIS functions and when and how to refer to TIS specialists. The goal of the program is to provide genetic counseling students with the opportunity to gain experience in accessing and interpreting teratology research and in communicating teratogen information to patients and health professionals in a sensitive, effective manner.     

Parenting a Child with Phenylketonuria (PKU): an Interpretative Phenomenological Analysis (IPA) of the Experience of Parents

Phenylketonuria (PKU) is a rare inherited metabolic disorder which can cause neurological damage if left untreated. PKU is identified through newborn screening in developed countries, and treatment begins immediately to prevent these severe consequences. When a child is diagnosed, parents must assume immediate responsibility for the management of PKU and prevention of neurological damage. Quantitative studies have identified significant psychosocial stressors for parents, but little is known about how the parents experience this process. This study aimed to explore the experiences of parents of children with PKU under the age of two. It is the first study to examine these experiences in this way. Seven parents were interviewed about their experiences, and interpretative phenomenological analysis was used to analyse the data. Three main themes were identified: control, striving for normality and acceptance of PKU as a continuum. Links between the themes and processes underpinning the results were explored with relation to existing literature and theories from a clinical psychology perspective. The role of acceptance of PKU was central to the parent’s experiences. Clinical implications and suggestions for further research are discussed.     

Trust,autonomy, and advance directives

Trust has been largely ignored in contemporary bioethical discussions and also by courts of law. The favored language of autonomy, privacy, and rights is useful but insufficient to speak to moral experience, especially the experience of persons who write advance directives, but also physicians who receive such directives. The Brophy case is analyzed for its salient features, and a more central place for the concept of trust is proposed.This paper was presented at the Lehigh Valley Hospital Center Conference, Making Medical Decisions with and for Patients in Difficult Medical Circumstances, in 1988.The author has profited greatly in writing this paper from reading Nancy King'sMaking Sense of Advance Directives, to be published by D. Reidel, Dordrecht, The Netherlands.     

When Respect Means to Obey: Immigrant Mexican Mothers' Values for Their Children

We describe Mexican immigrant mothers' values for their children and their understanding of how children acquire those values. Fifteen mothers were given a Q-Sort task of parental values and interviewed at length using a semi-structured format. Analysis of the mothers' transcribed narratives revealed salient features of a cultural model of child development that constrasts sharply with current professional models. The emergent portrait of children was one of inactive learners whose ability to understand dictated social behavior, developed very slowly over the years, and was dependent on parental direction and instruction.     

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.     

From a linear to a contextual model of the ABCs of RET

The Contextual ABC Model follows from the recognition that the ABCs of RET ... are oversimplified and omit salient information about human disturbance and its treatment (Ellis, 1984). It is an attempt to capture the mutual and reciprocal intricacies of the ABC process, the complexities of human cognition, and the power of the person to create feelings and behaviors, thoughts and ideas, and even environmental events independent of any prior activating stimuli. It is believed that this model adds to the scope and power of RET's theory and practice without subtracting from or omitting what already exists.