The paper
Turbitt, E., Callinan, E., Shakes, P. et al. Fostering Hope and Acknowledging Uncertainty: Meeting Parents’ Needs and Preferences When Communicating Prognosis in Genetic Neurodevelopmental Conditions. Curr Dev Disord Rep 11, 21–31 (2024).
What was this research about?
When a child is diagnosed with a genetic condition that affects their cognitive development, the first thing parents want to know is what this means for their child and family in the future – and they look, naturally, to their paediatrician for answers. Yet while genetic testing is increasingly common, there has been relatively little research on how doctors communicate related prognostic information.
This study aimed to look at contemporary research on delivering a prognosis for a child with a genetic “neurodevelopmental” condition such as Down Syndrome, Fragile X or Angelman syndrome, with a focus on parents’ perspectives and wishes. The researchers also sought to identify recommendations for improving conversations at the time of diagnosis and beyond.
The research team included two parents of children with a neurodevelopmental condition as co-researchers. A search of ProQuest Central, Google Scholar, Medline and other academic sites identified 48 peer-reviewed from the past five years (2019-23).
What did the paper show?
A small amount of relevant research about children with neurodevelopmental conditions was found and stressed the importance of recognising the diversity of parents’ attitudes, and the necessity to tailor the timing and scope of conversations – as well as the way information is delivered – to their individual needs.
According to the relevant articles, some parents seek a prognosis that gives them certainty about their child’s future, while others expressed a higher tolerance for uncertainty. Overall, parents value honest and detailed discussions, but they also want information that highlights a child’s potential strengths and abilities as well as the challenges they face.
Recommendations in the research for enhancing prognostic conversations included clearly informing parents about the spectrum of possible outcomes, being realistic while fostering hope, and taking care with language (for example, avoiding terms such as a “poor” prognosis).
Doctors should consider relaying information in digestible chunks rather than all at once – and should reflect on whether their own biases may shape the way they talk about a child with disability and their perceived quality of life.
What is the significance of these findings?
With screening for genetic conditions becoming increasingly routine, it is vital that health professionals talk to parents in ways that are sensitive, supportive and meet their specific needs. This will be even more crucial once new tests – currently in development – that can deliver a more precise, individualised prognosis become available.
By reviewing the contemporary literature, this paper extracted valuable insights about prognostic conversations and how they can be improved. It also identified a shortage of research relating to children with genetic neurodevelopmental conditions. A greater number of articles relate to cancer and end-of-life contexts, and therefore centre on discussions about survival prospects rather than building an understanding of the impact of the condition and available supports.
What happens next?
Clearly, more research is needed into prognostic discussions about children with genetic neurodevelopmental conditions. This research should include parents as well as a wider range of healthcare professionals. Future research could focus on conversations with people living with diagnosed genetic neurodevelopmental conditions, including children.
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