Quality of life of children with achondroplasia and their parents - a German cross-sectional study

Stefanie Witt,Monika Bullinger,Julia Quitmann,Beate Kolb,Janika Bloemeke,Klaus Mohnike

doi:10.1186/s13023-019-1171-9

Abstract

BackgroundAchondroplasia is the most common form of disproportionate short stature and might affect not only the quality of life of the affected child but also that of the parents.ObjectivesWe aimed to investigate the quality of life of children with achondroplasia from child- and parent perspective as well as the parental quality of life.MethodsForty-seven children with achondroplasia and 73 parents from a German patient organization participated. We assessed children’s quality of life using the generic Peds QL 4.0™ as self-reports for children aged 8–14 and parent-reports for children aged 4–14 years. Parental quality of life we assessed using the short-form 8-questionnaire.ResultsChildren with achondroplasia showed significantly lower quality of life scores compared to a healthy reference population from both the child- and parent-report (p = ≤.01), except the child-report of the emotional domain (t (46) = − 1.73, p = .09). Parents reported significantly lower mental health in comparison with a German reference population (t (72) = 5.64, p ≤ .01) but no lower physical health (t (72) = .20, p = .85). While the parental quality of life was a significant predictor of parent-reported children’s quality of life (F (6,66) = 2.80, p = .02), it was not for child-reported children’s quality of life (F (6,66) = .92, p = .49).ConclusionsAchondroplasia is chronically debilitating. Thus special efforts are needed to address patients’ and parent’s quality of life needs. This special health condition may influence the daily life of the entire family because they have to adapt to the child’s particular needs. Therefore, clinicians should not only focus on the child’s quality of life but also those of the parents.

Highlights

Achondroplasia is the most common form of disproportionate short stature and might affect the quality of life of the affected child and that of the parents
Children’s quality of life In the sample, parents of children with achondroplasia reported significantly lower quality of life scores for their children compared to a healthy reference population for all domains (p ≤ .01) [17]
The children themselves rated their quality of life significantly lower compared to a healthy reference population for all domains (p ≤ .02) with the exception of the domain emotional (t (46) = − 1.73, p = .09) (Table 2)

Summary

Introduction

Achondroplasia is the most common form of disproportionate short stature and might affect the quality of life of the affected child and that of the parents. Achondroplasia is the most recognizable form of short stature [1], characterized by disproportionate short stature with prevalence rates about 1:10,000 to 1:30,000 per live births [2, 3]. Quality of life as a central patientreported outcome measure became an important health indicator in the context of the care of chronically ill patients [13, 14]. According to this relevance, we have developed and tested a patient-reported outcome instrument for young people with achondroplasia, emphasizing the benefits of this diseasespecific instrument [15, 16]

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