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Epidemiology of Robin sequence in the UK and Ireland: an active surveillance study

Marie Fa Wright1,2,3, Rachel L Knowles2, Mario Cortina-Borja2

  • 1Paediatric Respiratory Medicine, BC Children's Hospital, Vancouver, British Columbia, Canada marie.wright@cw.bc.ca.

Archives of Disease in Childhood
|June 27, 2023
PubMed

Insights

The birth prevalence of Robin sequence (RS) with cleft palate in the UK and Ireland is higher than previously estimated, affecting 1 in 5250 live births. Dual surveillance methods identified more cases, including those with milder symptoms.

Area of Science:

  • Pediatrics
  • Epidemiology
  • Genetics

Background:

  • Robin sequence (RS) birth prevalence is typically cited as 1 in 8000-14,000 live births.
  • Previous estimates may underestimate true prevalence due to single-source ascertainment, missing milder or non-hospitalized cases.

Purpose of the Study:

  • To determine the accurate birth prevalence of Robin sequence (RS) with cleft palate in the UK and Ireland.
  • Employ a population-based birth cohort with high case ascertainment for precise prevalence estimation.

Main Methods:

  • Active surveillance for RS with cleft palate across the UK and Ireland.
  • Utilized dual case ascertainment: British Paediatric Surveillance Unit (BPSU) reporting and national cleft services.
  • Collected clinical data at two time points from notifying clinicians.

Main Results:

  • Identified 173 live-born infants meeting the surveillance case definition.
  • Established a birth prevalence of 1 in 5250 live births (19.1 per 100,000).
  • Found 47% of cases had non-isolated RS, with Stickler syndrome being the most common genetic diagnosis (12%).

Conclusions:

  • Active surveillance reveals a higher birth prevalence of RS in the UK/Ireland than previously reported.
  • Dual ascertainment identified cases missed by single sources, including those with mild or late-onset airway issues.
  • Further research is needed to explore geographical variations in RS birth prevalence.
Abstract

Keywords:
EpidemiologyGeneticsNeonatologyRespiratory MedicineSleep

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