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

• Published in: Journal of intellectual disability research 2015-05, Vol.59 (5), p.474-486
• Main Authors: Goodwin, J., Schoch, K., Shashi, V., Hooper, S. R., Morad, O., Zalevsky, M., Gothelf, D., Campbell, L. E.
• Format: Article
• Language: English
• Subjects: 22q11 Deletion Syndrome - genetics; 22q11 Deletion Syndrome - psychology; 22q11.2 deletion syndrome and families; Adolescent; Adult; Age Factors; Child; Child, Preschool; Children with disabilities; Coping; diagnostic disclosure in genetic conditions; Disclosure; disclosure of diagnostic information to children; Down syndrome; Down Syndrome - genetics; Down Syndrome - psychology; Female; Fragile X Syndrome - genetics; Fragile X Syndrome - psychology; Genetic disorders; Genetic Testing; Humans; Infant; Infant, Newborn; Male; Middle Aged; Online Surveys; parental perceptions of diagnostic experience; Parents; Parents & parenting; Parents - psychology; Prader-Willi Syndrome - genetics; Prader-Willi Syndrome - psychology; Self Efficacy; Truth Disclosure; Tuberous Sclerosis - genetics; Tuberous Sclerosis - psychology; velo-cardio-facial syndrome and families
• ISSN: 0964-2633; 1365-2788
• DOI: 10.1111/jir.12151

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 developmental disorders of a known genetic aetiology: parents of children with 22q11.2 deletion syndrome (22q11DS) were compared with 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 a lack of support and appropriate information. Sixty‐eight per cent 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 per cent of the Down syndrome group felt they had sufficient information to talk to their child compared with 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 indicate 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 ex