Parental attitudes toward a diagnosis in children with unidentified multiple congenital anomaly syndromes

Rosenthal, Eric T.; Biesecker, Leslie G.

doi:10.1002/ajmg.1527

Cited by 101 publications

(156 citation statements)

References 23 publications

Supporting

Mentioning

145

Contrasting

Unclassified

Order By: Relevance

“…The concept and meanings of genetic cause, particularly of family associations are powerful tools for making sense of illness and negotiating blame (Nelkin & Lindee, 1995;Rosenthal et al, 2001;Hallowell et al, 2006;Arribas-Ayllon et al 2008). This article has demonstrated that this remains the case, even when a genetic syndrome is caused by a de novo deletion.…”

Section: Resultsmentioning

confidence: 99%

Negotiating blame and responsibility in the context of a “de novo” mutation

Dimond

2014

New Genetics and Society

View full text Add to dashboard Cite

This article examines the implications for parents and family members when a child is diagnosed with a genetic syndrome. In particular, it describes how practices of understanding are shaped when the syndrome occurs 'de novo', that is, when it has not been inherited from either parent and where there is no family history. Despite a significant body of research exploring the social implications of genetic disease and diagnostic technologies, sociological understandings of the implications of a de novo mutation are considerably limited. This article draws on semi-structured interviews conducted with twenty three parents of children diagnosed with 22q11 deletion syndrome, a syndrome associated with high rates of de novo cases. Three themes were identified: 'lay' understandings of genetics; making genetic connections and genetic gatekeeping. Overall, this article articulates and confirms the enduring significance of family for contextualising health and illness.

show abstract

Section: Resultsmentioning

confidence: 99%

Negotiating blame and responsibility in the context of a “de novo” mutation

Dimond

2014

New Genetics and Society

View full text Add to dashboard Cite

show abstract

“…As previous data suggest [Clarke-Steffen, 1993a;Cohen, 1993;Rosenthal et al, 2001], some parents may be able to find hope in uncertainty and use this as an effective coping strategy. Studies that have used teaching interventions within the Transactional Model of Stress and Coping have reported significant improvements in coping efficacy, distress, and depression [Folkman et al, 1991;Chesney et al, 1996].…”

Section: Interventions Aimed At Minimizing Uncertainty By Highlightinmentioning

confidence: 87%

Uncertainty and perceived personal control among parents of children with rare chromosome conditions: The role of genetic counseling

Lipinski

Biesecker

et al. 2006

American J of Med Genetics Pt C

100

View full text Add to dashboard Cite

Little is known about the impact of genetic counseling on parental uncertainty or perceived control regarding the prognosis of a child with a chromosomal disorder. By exploring the parents' concerns and needs surrounding the child's diagnosis, a genetic provider can help to facilitate effective coping. This study tested the association of measures of parental uncertainty and perceived control with the perceived helpfulness of the genetic counselor. A survey was distributed to 875 members of the Chromosome Deletion Outreach (CDO) support group. We hypothesized that parents' perceptions about the helpfulness of the genetic counselor would modify the relationship between perceived uncertainty, perceived control, and coping. Among the 363 respondents, there was a significant negative correlation of the perceived helpfulness of seeing a genetic counselor with the levels of uncertainty (rs = −0.20, P‐value < 0.001). Lower perceived helpfulness of the genetic counselor, along with less perceived personal control, less benefit of a diagnosis, and lower parental age were significant predictors of the highest perceptions of uncertainty. The Transactional Model of Stress and Coping was used as a framework for interpreting the relationships between parental uncertainty, perceived control, and outcome variables. There was a significant positive correlation between parents' perceived personal control and their reports of helpfulness of the genetic counselor (rs = 0.20, P‐value <0.0006). Genetic counseling can be enhanced for parents faced with rare disorders by using interventions focused on reducing feelings of uncertainty and enhancing feelings of control. © 2006 Wiley‐Liss, Inc.

show abstract

“…There is limited literature related to parents' experiences of living with a child with KS, or their experiences of arriving at and receiving a diagnosis. Despite preexisting research regarding the diagnostic process for a variety of other conditions, [19][20][21] there is limited research focusing specifically on parents' experiences of the diagnostic process of KS and its impact. Of the few published studies that do relate to KS, the focus was on a specific time point of diagnosis such as prenatally, 22 or studied more than one condition, such as all sex chromosome abnormalities.…”

Section: Introductionmentioning

confidence: 99%

A qualitative exploration of mothers’ and fathers’ experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis

et al. 2013

View full text Add to dashboard Cite

Klinefelter syndrome (KS) is a common genetic condition that is currently under-diagnosed. The phenotype is broad, with physical, medical and psychosocial features ranging from mild to severe. When a child is diagnosed with KS, the parents may spend months to years searching for a diagnosis. This study used a qualitative methods approach to explore parents' experiences of having a child with KS and receiving a diagnosis. Fifteen semistructured one-to-one in-depth interviews were conducted to explore their experiences and views. The interviews were then transcribed, coded and thematically analysed. The interviews revealed that parents had diverse experiences related to: the timing of the diagnosis of their child and reasons why their child was investigated for KS; the information that was provided at the time of diagnosis; the supports that were available and the concerns that parents held for the future of their child. The conclusions from this study were that parents' experiences of having a child with KS and receiving a diagnosis were complex and multifaceted. This experience was shaped by the timing of when the diagnosis was received, who provided the diagnosis, what information was provided from health-care professionals and that which parents may have encountered on the internet. The long-term experiences for parents were also impacted by the level of support they received. These findings have implications for the process by which KS is recognised by the health-care community and supports available for families.

show abstract

Parental attitudes toward a diagnosis in children with unidentified multiple congenital anomaly syndromes

Cited by 101 publications

References 23 publications

Negotiating blame and responsibility in the context of a “de novo” mutation

Negotiating blame and responsibility in the context of a “de novo” mutation

Uncertainty and perceived personal control among parents of children with rare chromosome conditions: The role of genetic counseling

A qualitative exploration of mothers’ and fathers’ experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis

Contact Info

Product

Resources

About