Health‐related quality of life of children with a positive carrier status for inherited cardiovascular diseases

Abstract

Familial hypercholesterolemia, hypertrophic cardiomyopathy, and long QT Syndrome are genetic cardiovascular conditions which may lead to sudden cardiac death at a young age. Preventive measures include lifestyle modifications, medications, and/or cardiac devices. Hence, identification of carrier children can protect them for the potentially life threatening consequences at a young age. Yet, informing children about their genetic risk status and subjecting them to treatment may have negative consequences. This preliminary study aimed to explore (1) how the health-related quality of life of carrier children compares to the quality of life of Dutch children in general; and (2) to what extent the carrier children's quality of life and their parents' perception thereof concur. Our method involved carrier children (n = 35), aged between 8 and 18 years, and their parents (n = 37) who completed a self-report questionnaire. Children's health-related quality of life was assessed with a children and parent version of the KIDSCREEN. Dutch reference data were available from a representative national sample. Our results show no statistically significant differences in scores between carrier children and the reference group. Also, no differences were found between carrier children and their parents' ratings, with the exception of the scale "psychological well being". Parents rated their child's psychological well being significantly lower. We identified no problems with the well-being of carrier children as compared to a representative sample of peers. This may offer some initial reassurance to those who have concerns about the implications of genetically testing children for one of these cardiovascular conditions. Yet, attention to possible problems in these children remains warranted.

Genetic testing for inherited heart diseases: longitudinal impact on health-related quality of life

“…24 Of note, a study assessing the impact of genetic testing in children in the context of the family found parents of LQTS children rated their child's psychological well-being as impaired, when in reality their scores were comparable to the general pediatric population. 25 Our data, therefore, aligns to the limited literature to date suggesting that there is no change in psychosocial and health status outcome following genetic testing for inherited heart diseases.…”

The psychological impact of genetic information on children: a systematic review

“…36 Five studies, however, found nonsignificant increases in children's depressive symptoms after genetic testing for FAP 28,34,35 or hereditary cardiac disease risk. 36,38 When exploring outcomes for particular subgroups, there was some evidence to suggest that children with affected parents and those with positive results may be more at risk. One study reported that children with a mother with breast cancer were at increased risk for anxiety and depression.…”

“…42 Some hoped/expected medication to help 41 Promotes psychological adjustment 17,46 and child autonomy 17,46 No behavioral problems at follow-up, 25,35 regardless of test results, 28 and decreased in some at follow-up. 35 "Good" social acceptance and bullying (P < 0.001) 38 Reduction in worry/uncertainty about future life planning (education, employment, social, and economic plans) and health planning (early or presymptomatic intervention) 3,16,17,29,43,44,46,47 Majority only thought/worried about becoming sick a 'little bit' or less. 25 Reduced worry and situational distress after negative results.…”

“…25 Anxiety increased in mutation-positive children with affected mothers but was normal at follow-up 35 Social isolation, 44 decreased social functioning, 29 and behavioral problems 45 Few carriers felt different to peers or reported social frustration 41 Potential ethical issues including loss of the child's autonomy 16,29 Reduced autonomy in carrier children. 38 Children stated testing in childhood is not so private that parents could not make the decision 37 Depression and/or distress after learning test results 3,44 Nonsignificant increase in symptoms of depression 28,[34][35][36] or otherwise normal 25 at follow-up a possible adverse implication in six (60%) articles. 3,16,27,43,45,47 Potential feelings of guilt and self-blame as a result of genetic testing were noted in five (50%) articles.…”

Effects of genetic risk information on children's psychosocial wellbeing: A systematic review of the literature

“…In the context of predictive genetic testing, most studies found no statistically or clinically significant differences in depression, 40 -42 anxiety, 40 -42 general psychological wellbeing, 43 dispositional optimism, 42 or behavioral problems and competence 40 -42 when comparing those with positive and negative test outcomes. However, the survey assessments used were generally intended for serious psychopathology and, thus, may not be sensitive to subtle nonclinical shifts in emotional wellbeing.…”