Health‐related quality of life in children with Robin sequence

Abstract

This patient-reported outcome (PRO) study reports on 102 children with Robin sequence (RS) and their parents. There has been differentiated between those with isolated RS and those with RS as part of a syndrome, and take various treatments into account. All RS families from an earlier described cohort were invited to participate. Parents and RS children completed online questionnaires regarding health-related quality of life (HRQoL), satisfaction with appearance, parental distress, and RS specific topics. Results were compared with the Dutch norm population if available. There was no major difference in HRQoL in RS children and the Dutch norm population, nor between children with isolated RS and those with RS as part of a syndrome. The latter is likely due to the large percentage of children with Stickler syndrome, and small number of RS children with intellectual disability. Parental distress was higher in RS children with syndromes compared to parents of isolated RS children. When comparing various treatments, the subgroup treated by mandibular distraction showed a tendency of lower HRQoL scores, less satisfaction with appearance, and more parental distress. Also in the NPA group parents showed a tendency of more parental distress. Subgroups for each treatment were very small, however, and firm conclusions cannot be drawn. In this study, HRQoL in RS children is demonstrated comparable to the norm population, despite variations in treatment, possibly with less favorable outcome for children who received mandibular distraction. Markedly larger studies are needed to allow more reliable comparison of PROs in various treatments, and to incorporate PROs in management guidelines to obtain optimal patient care. © 2016 Wiley Periodicals, Inc.

Psychosocial Functioning in Parents of MPS III Patients

“…Secondly, more clinically relevant parental distress and problems on all life domains are found among both mothers and fathers compared to mothers and fathers of healthy children. The reported levels of parental distress are strikingly higher in comparison to those found in other studies on parents with chronically ill children (Basart et al 2017;Haverman et al 2013;Limperg et al 2016). For instance, clinically relevant distress is reported in 63% of mothers and 59% of fathers of patients with pediatric cancer (Schepers et al 2018) compared to, respectively, 85% and 68% of the mothers and fathers in our study.…”

Family Experience With Pierre Robin Sequence: A Qualitative Study

“…This is reflected in our first theme. This finding conflicts with some previous work, including 1 small study investigating differences between patients and families with PRS (both with and without an underlying syndrome) and the Dutch norm population (Basart et al, 2017). They were able to identify few differences between these groups but did find higher levels of parental distress among parents of syndromic PRS children compared to nonsyndromic children.…”

Efficiency of prenatal diagnosis in Pierre Robin sequence

“…Similarly, mortality rate and developmental outcome of children born with PRS vary among studies. Indeed, the sequence can be isolated (with low mortality rate and good developmental outcome) or not (eg, associated with various malformations, especially anomalies of the central nervous system and skeleton, with higher mortality rate and poorer developmental outcome) . For children born with PRS, isolated or not, the priority is treatment of the neonatal respiratory and feeding disorders, which underlines the importance of prenatal diagnosis to prepare perinatal management.…”