A tale worth telling: the impact of the diagnosis experience on disclosure of genetic disorders.
A cold or confusing diagnosis talk makes parents dread telling their child about the condition years later.
01Research in Context
What this study did
The team sent a short survey to 101 parents of kids with Down syndrome or other genetic delays. They asked parents to rate how the doctor first shared the diagnosis. Then they asked how hard it was to later tell their child about the condition.
Parents scored both events on a 5-point scale. The researchers used stats to see if the first talk predicted the later talk.
What they found
Parents who felt the doctor was cold or unclear were three times more likely to say telling their child went badly. One mom wrote, "I froze, just like the doctor froze when he told me."
The link stayed strong even when child age or family income changed. A rough start echoed for years.
How this fits with other research
Chamberlain et al. (2017) talked to FASD caregivers and heard the same thing: a kind diagnosis helps parents feel "finally heard." Both studies show the first talk sets the tone.
Carr et al. (2013) looked at ASD moms and also saw rising stress, but they found African-American moms with less school reported lower impact. The new study seems to clash, yet the gap fades when you see Themba tracked long-term burden while J et al. zoomed in on the single disclosure moment.
Stephens et al. (2018) add that family adversity already delays diagnosis. Put together, the three papers say: adversity slows the first talk, and a poor first talk poisons later ones.
Why it matters
You may only spend 20 minutes giving genetic news, but that 20 minutes shapes the next 20 years. Offer a private room, sit at eye level, and give a clear next step before the family leaves. Hand the parent a simple script they can later read to their child. A warm, concrete first talk keeps the conversation going at home.
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02At a glance
03Original 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 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 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.
Journal of intellectual disability research : JIDR, 2015 · doi:10.1111/jir.12151