A tale worth telling: the impact of the diagnosis experience on disclosure of genetic disorders

Abstract

Background Research suggests children with genetic disorders exhibit greater coping skills when they are aware of their condition and its heritability. While the experiences parents have at diagnosis may influence their decision to disclose the diagnosis to their children, there is little research into this communication. The aim of the current study was to examine the relationship between the diagnosis experience and the disclosure experience for parents of children with intellectual disabilities; with a child affected by 22q11.2 deletion syndrome (22q11DS) compared to a group of parents with children affected with other genetic diagnoses, with a similar age of diagnosis (e.g., Fragile X syndrome) and a group where diagnosis generally occurs early (i.e., Down syndrome). Method The sample comprised 559 parents and caregivers of children with genetic developmental disorders, and an online survey was utilised. Items from the questionnaire were combined to create variables for diagnosis experience, parental disclosure experience, child’s disclosure experience, and parental coping and self-efficacy. Results Across all groups parents reported that the diagnosis experience was negative and often accompanied by lack of support and appropriate information. Sixty-eight percent of those in the 22q11DS and 58.3% in the Similar Conditions groups had disclosed the diagnosis to their child, whereas only 32.7% of the Down syndrome group had. Eighty-six percent of the Down syndrome group felt they had sufficient information to talk to their child compared to 44.1% of the Similar Conditions group and 32.6% of the 22q11DS group. Parents reported disclosing the diagnosis to their child because they did not want to create secrets; and that they considered the child’s age when disclosing. In the 22q11DS and Similar Conditions groups, a poor diagnosis experience was significantly associated with negative parental disclosure experiences. In the Similar Conditions group, a poor diagnosis experience was also significantly associated with a more negative child disclosure experience. Conclusions As expected this study highlights how difficult most parents find the diagnosis experience. Importantly, the data indicates that the personal experiences the parents have can have a long-term impact on how well they cope with telling their child about the diagnosis. It is important for clinicians to consider the long-term ramifications of the diagnosis experience and give the parents opportunities; through, for instance, psychoeducation to prepare for telling their child about the diagnosis. Further research is warranted to explore what type of information would be useful for parents to receive.

The first year: the support needs of parents caring for a child with an intellectual disability

“…Information support is consistently identified as a significant factor impacting parents' experiences of caring for their child with an intellectual disability (Willingham-Storr 2014). While recommendations suggest a need to provide substantial amounts of information to parents at the time of receiving a diagnosis of disability (Skotko et al 2009, Sheets et al 2011, the literature consistently reports that health professionals fail to provide enough current, comprehensive, accurate, balanced information about a child's condition and its implications for the child and family when informing parents of their child's diagnosis (Skotko 2005, Skotko & Bedia 2005, Gammons et al 2010, Choi et al 2011, Phelps et al 2012, Sheets et al 2012, Nelson Goff et al 2013, Willingham-Storr 2014, Goodwin et al 2015, Marshall et al 2015. Many parents therefore turn to peer support networks to assist them to understand their child's condition.…”

Information and genetic counselling for psychiatric risks in children with rare disorders

“…27 Inadequate access to information is associated with increased stress and uncertainty for parents and negatively influences their engagement with services, potentially denying them the advantages of a precise diagnosis. 28 Our survey did not gather sufficient demographic data to determine whether hard-pressed families were less likely to seek online content.…”

How do Parents Perceive the Initial Medical Consultation on their Child’s Developmental Disorder?

“…A number of parents also stated that they had had questions on the hereditability of the disease. The diagnosis of a hereditable dis- ease can be difficult to cope with [6,17,18]. Parents can experience feelings of guilt for having transmitted the disease [9,11,13].…”

“…However, data on how parents experience the reveal of their child's diagnosis is scarce. Studies on disclosure of genetic disorders underlying intellectual disability have shown that most parents find the diagnosis experience difficult [6,17]. Parents wish for a private setting and accurate and up-todate information [18].…”