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The At Risk Child: An exploration of the journey of children at risk of an inherited arrhythmia or cardiomyopathy and an examination of how age at diagnosis impacts well-being
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- Author / Creator
- Christian, Susan
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Background: There are currently knowledge gaps in our understanding of factors that influence a child’s journey through diagnosis and management of an inherited arrhythmia or cardiomyopathy. It is also unclear how age at diagnosis for one of these conditions impacts the physical, psychological and social well-being of a child. This dissertation explores these knowledge gaps and evaluates the role of family values and healthcare providers practice characteristics on the patient’s experience.
Method: Focusing on long QT syndrome, catecholaminergic polymorphic ventricular tachycardia, hypertrophic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy, we used mixed methods to (1) assess the current state of predictive genetic testing and management in a pediatric population (2) explore perspectives on the optimal timing of predictive genetic testing and (3) evaluate the downstream effects of diagnosis and management on well-being. We reviewed medical genetics and pediatric cardiology charts to assess current practice; we surveyed pediatric electrophysiologists, genetics counsellors, and families to better understand their perspectives; and we recorded physical activity and measured HRQL in a cohort of children diagnosed with one of these conditions to evaluate the physical and psychosocial well-being of this population.
Results: With regard to current practice, we learned that two thirds of families chose to pursue genetic testing for their at risk child(ren) and that three quarters of children underwent cardiac screening when it was indicated. Uptake of predictive genetic testing was significantly associated with genetic specialist recommendation and the gender of the carrier parent in the absence of symptoms. Cardiac evaluation was significantly associated with uptake of genetic testing.We further learned that the majority of pediatric cardiologists recommended some level of physical activity restriction for phenotype positive children but less commonly restricted phenotype negative children. Physical activity recommendations varied based on the type of physical activity, guidelines referenced and physicians’ own level of physical activity. Beta blocker therapy was prescribed for the majority of symptomatic patients and a significant number of asymptomatic patients.
When we surveyed genetic counsellors and families we discovered varied opinions with regard to the optimal time to offer predictive genetic testing. Although, the majority felt that testing should be offered prior to 5 years of age for long QT syndrome and catecholaminergic polymorphic ventricular tachycardia, and before 10 years of age for hypertrophic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy. Rationale for when to offer predictive genetic testing could be described by the ethical principles of beneficence, non- maleficence, autonomy, and informed consent.
We then explored the well-being of this patient population and investigated the impact of age at diagnosis. We found that children diagnosed with an inherited arrhythmia or cardiomyopathy were involved in less moderate- to vigorous-intensity physical activity per day and had lower health related quality of life scores compared to normative data. Although many children adjusted well to their diagnosis, obesity and having to change one’s physical activity were negatively associated with physical and psychosocial well-being. Children diagnosed at a younger age adapted better to physical activity recommendations supporting the idea that predictive genetic testing should be offered at a young age.
Discussion: Overall we discovered that the journey of children at risk of an inherited arrhythmia or cardiomyopathy is influenced by personal and family attributes as well as characteristics of the medical team caring for them. These results have several implications for clinical practice. Screening tools should be in place to identify children at risk for poor physical and psychosocial outcomes and care should be personalized based on the needs of each child. These results also highlight the need for more research in the areas as clinical practice is variable due to inconsistent published guidelines which are based mainly on expert opinion. In conclusion, it is important that the medical team stays abreast of the latest evidence, listens to the family’s perspective, works with families to develop the best care plan for each child and closely monitors the well-being of children overtime. -
- Graduation date
- Fall 2019
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- Type of Item
- Thesis
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- Degree
- Doctor of Philosophy
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- License
- Permission is hereby granted to the University of Alberta Libraries to reproduce single copies of this thesis and to lend or sell such copies for private, scholarly or scientific research purposes only. Where the thesis is converted to, or otherwise made available in digital form, the University of Alberta will advise potential users of the thesis of these terms. The author reserves all other publication and other rights in association with the copyright in the thesis and, except as herein before provided, neither the thesis nor any substantial portion thereof may be printed or otherwise reproduced in any material form whatsoever without the author's prior written permission.