Health-related quality of life in children with Robin sequence

Hanneke Basart*, Hedy A. van Oers, Emma C. Paes, Corstiaan C. Breugem, J. Peter W. Don Griot, Chantal M.A.M. van der Horst, Lotte Haverman, Raoul C. Hennekam

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


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.

Original languageEnglish
Pages (from-to)54-61
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Issue number1
Publication statusPublished - 1 Jan 2017

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