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

Abstract

Background Achondroplasia 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. Objectives We aimed to investigate the quality of life of children with achondroplasia from child- and parent perspective as well as the parental quality of life. Methods Forty-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. Results Children 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). Conclusions Achondroplasia 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.

Basic Principles of Health-Related Quality of Life in Parents and Caregivers of Pediatric Surgical Patients with Rare Congenital Malformations—A Scoping Review

“…33 Parental HrQoL may be limited due to the diagnosis of a rare chronic health condition, which is an emotionally stressful event in a parent's life 36 and daily life with associated comorbidities and changed everyday life routines. 19,25 The specific diagnosis seems to play an essential role in this context. Life-threatening diseases and health conditions with massive restrictions in daily life go hand in hand with a lower parental HrQoL.…”

“…Life-threatening diseases and health conditions with massive restrictions in daily life go hand in hand with a lower parental HrQoL. 24,25 Health conditions with only a few restrictions and without stigmatization are perceived by both the affected children and adolescents as well as their parents to be less burdensome and result in HrQOL with no significant differences in comparison to reference values. 37 Likewise, a higher degree of severity of the disease has a negative influence on the parents' HrQoL.…”

“…Lower parental mental health was associated with lower parentreported children's HrQoL. 24,25 Regarding the HrQoL of children with congenital malformations, Flieder et al 42 showed that parents receiving a prenatal diagnosis reported lower generic HrQoL of their children aged 2 to 7 years. The time of diagnosis did not show any significant effect on children's HrQoL reported by the parents in children aged 8 to 18 years.…”

“…Associations between parental HrQoL and HrQoL scores of the children were reported in various studies. [24][25][26][27] Lower parental HrQoL may also lead to reduced abilities for parental mentalization. 28 By this, mentalization is the fundament for the formation and maintenance of a good parent-child relationship.…”

Coping with Wolf-Hirschhorn Syndrome: quality of life and psychosocial features of family carers

“…QoL is described as a subjective and multidimensional process [20,21] and it has become a focus of research in recent decades. It has been included in studies of rare diseases (RDs) [22][23][24][25][26][27] and chronic diseases [28][29][30][31][32] involving both patients and caregivers. In all these cases the child's condition negatively affected the parents's QoL to a greater or lesser extent.…”