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271.
McConkie-Rosell A Finucane B Cronister A Abrams L Bennett RL Pettersen BJ 《Journal of genetic counseling》2005,14(4):249-270
These recommendations describe the minimum standard criteria for genetic counseling and testing of individuals and families
with fragile X syndrome, as well as carriers and potential carriers of a fragile X mutation. The original guidelines (published
in 2000) have been revised, replacing a stratified pre- and full mutation model of fragile X syndrome with one based on a
continuum of gene effects across the full spectrum of FMR1 CGG trinucleotide repeat expansion. This document reviews the molecular
genetics of fragile X syndrome, clinical phenotype (including the spectrum of premature ovarian failure and fragile X-associated
tremor-ataxia syndrome), indications for genetic testing and interpretation of results, risks of transmission, family planning
options, psychosocial issues, and references for professional and patient resources. These recommendations are the opinions
of a multicenter working group of genetic counselors with expertise in fragile X syndrome genetic counseling, and they are
based on clinical experience, review of pertinent English language articles, and reports of expert committees. These recommendations
should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular
outcome. The professional judgment of a health care provider, familiar with the facts and circumstances of a specific case,
will always supersede these recommendations. 相似文献
272.
Doctor's Expertise and Managing Discrepant Information from Other Sources in Genetic Counseling: A Conversation Analytic Perspective 总被引:1,自引:0,他引:1
The study examines a recurrent interactional pattern in genetic counseling. It describes clinical geneticists' responses in
situations in which clients have presented information from other sources that is potentially discrepant with information
given by the doctor. The data consists of 12 video-recorded sessions of genetic counseling in Finland, and the method is conversation
analysis. There are two primary ways the doctors respond: either they accept the client's information as such, but show that
it is not discrepant with the doctor's information, or they reject the client's information. In the latter case they mitigate
the ‘wrongness’ of the client's information. The clinical geneticists seem to be working with a dilemma: they need to find
a balance between ensuring correct understanding of the information and showing respect for the expertise of others. A particularly
complex case is also analyzed and reflected on. 相似文献
273.
Claes E Evers-Kiebooms G Denayer L Decruyenaere M Boogaerts A Philippe K Legius E 《Journal of genetic counseling》2005,14(5):349-363
This prospective study evaluates emotional functioning and illness representations in 68 unaffected women (34 carriers/34
noncarriers) 1 year after predictive testing for BRCA1/2 mutations when offered within a multidisciplinary approach. Carriers had higher subjective risk perception of breast cancer
than noncarriers. Carriers who did not have prophylactic oophorectomy had the highest risk perception of ovarian cancer. No
differences were found between carriers and noncarriers regarding perceived seriousness and perceived control of breast and
ovarian cancer. Mean levels of distress were within normal ranges. Only few women showed an overall pattern of clinically
elevated distress. Cancer-specific distress and state-anxiety significantly decreased in noncarriers from pre- to posttest
while general distress remained about the same. There were no significant changes in distress in the group of carriers except
for ovarian cancer distress which significantly decreased from pre- to posttest. Our study did not reveal adverse effects
of predictive testing when offered in the context of a multidisciplinary approach. 相似文献
274.
Tara?Saathoff-WellsEmail author Rex?E.?Culp Candace?T.?Yancey 《Journal of child and family studies》2005,14(4):487-503
We investigated perceiver bias in relation to children labeled as sexually abused. Building on recent research indicating
that adults perceive children with such a label as having more behavioral problems and lower achievement, we replicated and
expanded upon an earlier study. We tested undergraduate students (N = 699), who judged a six-year old child's aggressive behavior
in vignettes that varied on severity of the aggressive behavior, child gender, and family history (sexually abused, mother
dying of cancer, normal). Perceiver bias was related to family history label for internalizing behavior problems and competence
issues and child gender for internalizing behavior problems and externalizing behavior problems. Implications for educators
and practitioners are discussed as well as routes for future research. 相似文献
275.
Martha?E.?WadsworthEmail author Tali?Raviv Bruce?E.?Compas Jennifer?K.?Connor-Smith 《Journal of child and family studies》2005,14(2):283-298
We tested several models of the associations among economic strain, life stress, coping, involuntary stress responses, and psychological symptoms in a sample of 57 parent-adolescent dyads from rural, lower-income families. Economic strain and life stress predicted symptoms for both parents and adolescents. Stressor-symptom specificity was found for parents, such that economic strain uniquely predicted depression, whereas negative life events predicted hostility. Involuntary stress responses were associated with higher levels of symptoms for both parents and the adolescent children. Secondary control coping was associated with fewer symptoms for both parents and adolescents. Results support a mediational role of coping and responses to stress during adolescence, with a shift to moderational status in adulthood. Implications of these results are discussed with regard to developmental coping theory and potential interventions with at-risk families. 相似文献
276.
Eunjeong?KangEmail author Ana María?Brannan Craig Anne?Heflinger 《Journal of child and family studies》2005,14(1):43-56
The aim of this study was to examine differences in responses to the Caregiver Strain Questionnaire (CGSQ) between African American and White caregivers of children with emotional and behavioral challenges. Significant item- and scale-level differences were detected across groups with African Americans consistently reporting less strain. We examined whether these differences were more likely due to nonequivalent measurement than to real differences in the experience of caregiver strain. Confirmatory factor analysis showed that the model fit the data well for both racial groups, but there were some differences in structural components. Internal consistency was equivalent across the groups. In an examination of criterion validity, regression analyses showed that African American caregivers experienced a slower rate of increase in objective caregiver strain at a given increase in child internalizing problems. No other race differences were found in the regression analyses. In general, we conclude that the CGSQ can be useful for detecting caregiver strain and identifying family support needs for both White and African American caregivers. Differences across groups in reports of caregiver strain, however, call for more research on racial differences in the impact on the family of caring for a child with emotional and behavioral disorders. 相似文献
277.
In children’s mental health, collaborative, team-based individualized service planning is most commonly known as wraparound, and has become one of the primary strategies for improving services and outcomes for children with the highest levels of need. We report on analyses of data gathered at 72 wraparound team meetings from communities around the United States. We describe the composition of the teams and the quality of the planning process they engaged in, and explore the extent to which these factors were associated with team member satisfaction and the individualization of plans. Teams in our study were numerically dominated by professionals. Parents attended a large majority of meetings, participation by youth and family advocates was frequent, participation by other family members infrequent, and participation by other members of the family’s informal or natural support networks rare. Observed teams varied considerably in the quality of their planning process and the degree of individualization of plans. Higher-quality planning was significantly associated with increased individualization of plans and with team member satisfaction with meeting productivity. 相似文献
278.
Bates BR 《Journal of genetic counseling》2005,14(6):423-434
Critics of genetic discourse are concerned that deterministic and discriminatory views of genetics are increasingly becoming
adopted. These views argue that current genetic discourse becomes a source of power whereby powerful institutions harm people
with so-called “bad” genes. This essay argues that current analyses of the power of genetics discourse are grounded in an
improper reading that disempowers patients. Deploying Michel Foucault's concept “care of the self,” this essay claims that
genetics discourse is better understood as a way that patients take on power through rhetoric rather than a force that has
power over patients. Through a close reading of the “My Family Health Portrait” program, this paper argues that patients experience
a process of “subjection” wherein they become agents of and objects of genetics discourse both. This alternative mode of analyzing
the power of genetics discourse has implications for our collective understanding of the operations of the care of the self
and the uses of genetic information that we propose. 相似文献
279.
Kimberly?A.?SchreckEmail author James?A.?Mulick Johannes?Rojahn 《Journal of child and family studies》2005,14(1):101-109
Wide discrepancies exist concerning the reported occurrence of sleep problems for elementary school children. We describe parental perception of sleep problem behavior in elementary school aged children 5–12 years. Approximately 4% of parents reported their children experienced significant global sleep problems serious enough to adversely affect family functioning. Significant specific sleep problems reported by parents occurred for approximately 9–14% of the children in the sample. These ranges were in the low end of the ranges of sleep problems reported in previous literature for this age group. 相似文献
280.
Kimber?W.?MalmgrenEmail author Joseph?C.?Gagnon 《Journal of child and family studies》2005,14(2):299-312
We examined the school mobility of a cross-sectional sample of 70 secondary-age youth with emotional disturbance (ED). Data were collected through an archival review of school records. Students’ school mobility histories were examined in terms of the overall number of schools attended in the elementary school years, as well as the timing of the moves that were made. Findings indicate that sample students experienced high rates of school mobility with 66% having changed schools at least once by the end of 2nd grade and 89% having changed schools at least once by the end of 5th grade. Strategies for minimizing school mobility and the impact of high rates of school mobility are reviewed. 相似文献