排序方式: 共有48条查询结果,搜索用时 31 毫秒
1.
Sudden infant death syndrome (SIDS) is defined as the sudden and unexpected death of an apparently healthy infant under 1 year of age. Routine autopsies often provide few clues as to the cause of death and rarely include a biochemical evaluation. Genetic counseling for SIDS can be difficult as recurrence risks vary depending on the age at death and the number of deaths which have occurred in the family. Biochemical disorders may account for up to 5% of SIDS. Of the metabolic disorders known to be involved in SIDS, the most commonly found is medium-chain acyl CoA dehydrogenase deficiency (MCAD). MCAD is an autosomal recessive disorder of fatty acid oxidation which accounts for up to 1% of SIDS. For some families, the addition of a postmortem biochemical investigation can identify an unsuspected metabolic disorder as the cause of death. Once the diagnosis is established, accurate genetic counseling can then be provided. Metabolic testing of the surviving siblings of victims of sudden death, and the subsequent identification of those due to MCAD can prevent the tragedy of recurrent SIDS in some families. In addition, screening the survivors of an acute life threatening event (ALTE) may also prevent a recurrence. 相似文献
2.
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
3.
Genetic testing in minor children presents a complex ethical and social problem. Current guidelines state that genetic testing of children is recommended only under circumstances where a clear medical or psychosocial benefit to the child can be demonstrated. Because of the difficulty in determining a psychosocial benefit, the discussion about genetic testing of minors ultimately tends to focus on who has the right to make the decision and whose right to autonomy is jeopardized, the parent's or the child's, when there is no identified medical benefit. Historically, a western bioethics paradigm, Principlism, has been used to guide genetic counseling sessions and genetic-testing guidelines for minors. This bioethics paradigm is guided by the principles: respect for autonomy, beneficence, nonmaleficence, and justice. Genetic testing in children, when viewed through a traditional bioethics filter is limited by its focus on the individual because children are not only individuals, they are also integral parts of a larger social context, that of their family. Because this bioethics paradigm places a strong emphasis on individual autonomy, the family's beliefs and values and the parents' concern for their children may be overshadowed by the medical community's attempt to preserve the child's "right" to an autonomous decision about genetic testing. The purpose of this paper is to present a theoretical and ethics-based conceptual framework that may be useful in the development of genetic counseling interventions. 相似文献
4.
5.
6.
Allyn Fives 《Reading Psychology》2013,34(3):339-370
The current article examines what factors explained the success of a reading program delivered by older adult volunteers to at-risk early readers. The article also examines the direction of the relationship over time (both direct and mediated) between reading achievement, frequency of reading at home, and academic self-beliefs. Two hundred and twenty nine socially disadvantaged children recruited at the start of first and second grade at risk of reading failure participated in the randomized controlled trial study over an 18-month period. The results from structural equation modeling show the combined instructional and emotional support was a proximal outcome, whose distal outcomes included gains in reading achievement. There was no evidence that either academic self-beliefs or frequency of reading at home mediated program impact on reading achievement. In addition, academic self-beliefs became more accurate and stable as children advanced through school. Reading achievement mediated the impact of earlier reading achievement on both academic self-beliefs and frequency of reading at home for children entering second and third grade. In contrast, for the youngest children (at the start of first grade), academic self-beliefs were negatively associated with subsequent academic self-beliefs and frequency of reading at home. 相似文献
7.
Nathalie McIntosh Louise W. Gane Allyn McConkie-Rosell Robin L. Bennett 《Journal of genetic counseling》2000,9(4):303-325
The National Society of Genetic Counselors' (NSGC) recommendations for fragile X syndrome (FXS) genetic counseling are intended to assist health care professionals who provide genetic counseling for individuals and families in whom the diagnosis of FXS is strongly suspected or has been made. The recommendations are the opinions of genetic counselors with expertise in FXS counseling and are based on clinical experience, a review of pertinent English language medical 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. These recommendations do not displace a health care provider's professional judgment based on the clinical circumstances of a particular client. 相似文献
8.
Vandana Shashi Matcheri Keshavan Jessica Kaczorowski Kelly Schoch Kathryn E. Lewandowski Allyn McConkie-Rosell Stephen R. Hooper Thomas R. Kwapil 《Journal of genetic counseling》2010,19(5):535-544
The purpose of this study is to examine the association between parental socio-economic status (SES) and childhood neurocognition
and behavior in children with chromosome 22q11.2 deletion syndrome (22q11DS). Although undoubtedly, the deletion of genes
in the 22q11.2 interval is primarily responsible for the psychological manifestations, little is known about the role of the
environment in either mitigating or contributing to these problems. We examined the association of parental socio-economic
status (SES) with cognition and behavior in children with 22q11DS (n = 65) and matched healthy control subjects (n = 52), since SES is a component of family resources. We found that in children with 22q11DS, higher SES correlated with better
overall functioning (p < .01) and social skills (p < .01), and less frequent oppositional defiant behavior (p < .001). These findings were in contrast to the control subjects in whom SES correlated with cognition and achievement, but
not behavior. Our results indicate that environmental factors influence the behavioral phenotype in children with 22q11DS,
providing a framework for developing appropriate interventions. As such, genetic counseling for families with 22q11DS may
include consideration of family resources and inclusion of other health professionals, such as social workers, to explore
with the family available social supports and resources. 相似文献
9.
10.