Family communication about genetic risk information: Particular issues for Duchenne muscular dystrophy

Abstract

Open family communication about genetic conditions and associated risk is important to children's identity, coping and decision making. Parents however find talking to their children difficult and because of associated care needs and emotional reactions it can be particularly stressful in families affected by Duchenne muscular dystrophy (DMD). This article reports on the findings of a group of families affected by DMD who formed part of a larger study where adult and child members of 33 families affected by one of six genetic conditions were interviewed. Parents thought they should talk to children about a genetic condition in their family and children wanted information and open discussion. In families affected by DMD clear gender differences were identified between mothers and fathers in coping and in their roles in relation to the condition. There was a particularly close bond between mothers and affected sons. For most conditions, mothers were central to giving children information but the identified issues made this problematic in families with DMD. This resulted in affected children receiving little information about their condition at all and female siblings being unlikely to receive information about their potential carrier status until they were about 16-year old. Insight into family communication within families affected by DMD assists healthcare professionals in recognizing and meeting the particular support needs of this group of families.

Informed Consent Process in Alpha-1 Testing of At-Risk Children: Views of Parents and Adults Tested as Children

“…These data replicate other studies reporting the role that children want to play decision-making process prior to testing (8)(9)(10). Furthermore, no significant harm was reported by those tested as children as a result of knowledge of being tested for Alpha-1.…”

“…Three parents (4%) indicated children should be tested under no circumstances, but, in general, parents were more in favor of testing than ATC. Specifically, parents were more in favor of testing at-risk children with or without (and less than age 8) symptoms. Views of newborn screening also varied for both groups and differed between the groups.…”

“…Currently, there is neither a practice standard regarding predispositional testing of children for adult onset conditions nor research addressing the informational needs of parents and children prior to genetic testing (1,(5)(6)(7). Research into the needs of children with genetic conditions indicates that they want to participate in a more informed decision-making process and involve their parents as well (8)(9)(10). Some research Informed Consent Process in Alpha-1 Testing of At-Risk Children  regarding predictive genetic testing of children for adult onset conditions agrees with existing guidelines, other research argues that the guidelines are not justified (11)(12)(13)(14).…”

‘Just an unfortunate coincidence’: children’s understanding of haemophilia genetics and inheritance

“…However, in a paper about Duchenne Muscular Dystrophy (DMD) carrier testing and status was not routinely known by 'at risk' girls as parents felt a need to protect them from the knowledge that they were carriers [20]. The girls in this study felt that they should know everything about the genetics of DMD even if that knowledge was upsetting at the time, as this gave a better 'family view' of inherited disease.…”

How Physicians Support Mothers of Children with Duchenne Muscular Dystrophy

“…12 In a previous study conducted in the United Kingdom, about a half of the parents of children with Duchenne muscular dystrophy did not tell the diagnosis to the child because of the life-limiting nature of the disease. 18 It can be a very difficult problem when the parents are not prepared to communicate about the disease to the child. Therefore, medical professionals or counselors could help prepare them and provide support while they decide on how to talk with the child.…”