Rare Childhood Disorders Pose Significant Impact on Quality of Life of Children and Parents, Study Reports

Joana Carvalho, PhD avatar

by Joana Carvalho, PhD |

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Rare childhood disorders, including Pompe disease, pose a significant estimated impact on the quality of life of affected children and their parents, a study reports.

The study, “Health utilities and parental quality of life effects for three rare conditions tested in newborns,” was published in the Journal of Patient-Reported Outcomes.

The Advisory Committee for Heritable Disorders in Newborns and Children recommends newborn screenings for 34 health conditions. Some states, however, screen for more than 50 conditions.

“Economic evaluations are conducted to better estimate the implications of expanding newborn screening for recommended disorders. Health utility estimates are required as part of economic evaluation to quantify the burden of disease and derive quality-adjusted life years (QALYs), the outcome measure recommended for use in cost-effectiveness analysis,” the researchers wrote.

However, few studies so far have addressed health utilities, which refers to the general health status of affected individuals, for rare childhood disorders, or included disutilities, defined as inconvenience, harm, or distress associated with disease, experienced by parents and/or caregivers.

In this study, a team of researchers from the University of Michigan set out to estimate health utilities and disutilities experienced by parents of children diagnosed with one of three rare conditions currently included in newborn screenings.

The study invited a total of 862 adults, between 18 and 90 years old, representative of the general U.S. population, to participate in a stated-preference online survey to assess health utilities for Krabbe disease, phenylketonuria (PKU), and Pompe disease with various degrees of severity and age at symptom onset.

The questionnaire was based on a time trade-off (TTO) approach, in which respondents were asked whether they would be willing to trade part of their remaining life to avoid an undesirable health condition for their children or themselves.

Results showed that severe infantile Pompe disease and infantile Krabbe disease had the lowest estimated health utilities. Conversely, adult early stage Krabbe disease, adult mild Pompe disease, and adult PKU had the highest estimated health utilities.

The estimated parent disutility or spillover, defined as the burden imposed by a child’s disease on a parent, was higher in the infantile-onset advanced Krabbe disease and lower in mild childhood Pompe disease.

“Our results indicate that estimated health utilities for Krabbe disease, phenylketonuria, and Pompe disease vary by condition, age of disease onset, and stage of childhood disease; however, all conditions are associated with substantial quality of life losses for children with these rare conditions and their parents. Parental spillover [disutility] effects were observed across all childhood conditions in this study and were especially notable among infantile-onset and severe childhood conditions,” the investigators wrote.

“Our study further supports the inclusion of parental spillover effects in economic evaluations to fully assess the quality of life gains and losses related to early detection and treatment of rare conditions in pediatric populations,” the scientists concluded.