Robin Sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper airway obstruction (UAO), often in association with cleft palate. Infants with RS often require prolonged inpatient admission and interventions for relief of UAO and to assist with feeding. Treatment approaches vary between centres and include nasogastric feeding, nasopharyngeal airway, mandibular distraction osteogenesis and tracheostomy. All aforementioned interventions are invasive and diverge greatly from the normal routines of early infancy. In spite of this, the impact of RS and its treatment on infant quality of life has not previously been investigated. The aim of the current project is to pilot a validated infant health-related quality of life (HRQoL) instrument(1) in a consecutive series of infants born with RS.
The Infant Health-Related Quality of Life Instrument (IHRQoLI) will be administered to parents of infants with RS, who are attending CHI for management of RS. The IHRQoLI evaluates seven health domains: sleeping, feeding, breathing, stooling, mood, skin, and interaction. Each domain is rated on a four-level scale, and an algorithm will be used to calculate utility scores, providing a numerical representation of the infant’s quality of life.
This project fits into the current programme for research at the Dublin Cleft Centre (DCC) at CHI(1, 2), which includes collaboration with the European Robin Sequence Registry. The European RS Registry is a multi-centre longitudinal study designed to collect routine clinical data on patients with RS, who are being managed at paediatric centres across Europe(3). As members of the European Reference Network for rare craniofacial conditions (ERN-Cranio), the DCC was invited to join the European RS Registry in 2024. The registry does not currently include evaluation of HRQoL and it is anticipated that the data collected in the current study will provide evidence for inclusion of the IHRQoLI in the European RS Registry.