Abstract
Children with Beckwith-Wiedemann Syndrome (BWS) and Isolated Hemihypertrophy (IHH) are at an increased risk for developing tumors. Tumor screening in this population is currently being reassessed by several groups and the effect on patients and patient-families has been argued both as a reason to screen and not to screen. Parental perspectives on this topic have never been systematically addressed for the BWS population. Here, we conducted a parent-based survey to evaluate knowledge and attitudes toward tumor screening in patients affected by BWS/IHH. A total of 261 surveys were completed. Overall, parents reported that screening decreased their worry and did not feel that screening increased worry or created a burden. This effect was observed across various demographic variables and other factors examined. Almost all significant differences observed could be attributed to parental knowledge of tumor risk. Parents who correctly identified their child’s tumor risk were more likely to agree with stratified screening recommendations according to BWS type and risk, and were less likely to feel worried if recommendations were changed. These results highlight the need to educate families about their child’s genetic type and tumor risk in order to facilitate an informed decision about tumor screening.
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Acknowledgements
We would like to thank the families who completed this survey for their participation, as well as Beckwith-Wiedemann Children’s Foundation International and Beckwith-Wiedemann syndrome Facebook support group for their support of BWS families.We thank Dr. Lamia Barakat for her critical review of this work. We would also like to thank Children’s Hospital of Philadelphia, National Institutes of Health, St. Baldrick’s Foundation, and Alex’s Lemonade Stand Foundation for funding this study.
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Kelly A. Duffy, Katheryn L. Grand, Kristin Zelley, and Jennifer M. Kalish declare that they have no conflict of interest.
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All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki. Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.
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No animal studies were carried out by the authors for this article.
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Duffy, K.A., Grand, K.L., Zelley, K. et al. Tumor Screening in Beckwith-Wiedemann Syndrome: Parental Perspectives. J Genet Counsel 27, 844–853 (2018). https://doi.org/10.1007/s10897-017-0182-8
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DOI: https://doi.org/10.1007/s10897-017-0182-8