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Epidemiology of Robin sequence in the UK and Ireland: an active surveillance study
  1. Marie FA Wright1,2,3,
  2. Rachel L Knowles2,
  3. Mario Cortina-Borja2,
  4. Sheila Javadpour4,
  5. Felicity V Mehendale5,
  6. Donald S Urquhart6,7
  1. 1 Paediatric Respiratory Medicine, BC Children's Hospital, Vancouver, British Columbia, Canada
  2. 2 Population, Policy and Practice Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, London, UK
  3. 3 Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada
  4. 4 Paediatric Respiratory Medicine, Children's Health Ireland at Crumlin, Crumlin, Ireland
  5. 5 Usher Institute, The University of Edinburgh Centre for Global Health Research, Edinburgh, UK
  6. 6 Paediatric Respiratory Medicine, Royal Hospital for Children and Young People, Edinburgh, UK
  7. 7 Department of Child Life and Health, The University of Edinburgh, Edinburgh, UK
  1. Correspondence to Dr Marie FA Wright, Paediatric Respiratory Medicine, BC Children's Hospital, Vancouver, BC V6H 3N1, Canada; marie.wright{at}


Background Birth prevalence of Robin sequence (RS) is commonly reported as 1 case per 8000–14 000 live births. These estimates are based on single-source case ascertainment and may miss infants who did not require hospital admission or those without overt upper airway obstruction at birth.

Objectives To identify the true birth prevalence of RS with cleft palate in the UK and Ireland from a population-based birth cohort with high case ascertainment.

Methods Active surveillance of RS with cleft palate was carried out in the UK/Ireland using dual sources of case ascertainment: British Paediatric Surveillance Unit (BPSU) reporting card and nationally commissioned cleft services. Clinical data were collected from notifying clinicians at two time points.

Results 173 live-born infants met the surveillance case definition, giving a birth prevalence of 1 case per 5250 live births (19.1 per 100 000 (95% CI 16.2 to 21.9)), and 1:2690 in Scotland. 47% had non-isolated RS, with Stickler syndrome the most common genetic diagnosis (12% RS cases). Birth prevalence derived from the combined data sources was significantly higher than from BPSU surveillance alone.

Conclusions Birth prevalence of RS in the UK/Ireland derived from active surveillance is higher than reported by epidemiological studies from several other countries, and from UK-based anomaly registries, but consistent with published retrospective data from Scotland. Dual case ascertainment sources enabled identification of cases with mild or late-onset airway obstruction that were managed without hospital admission. Studies of aetiology and equivalent well-designed epidemiological studies from other populations are needed to investigate the identified geographical variability in birth prevalence.

  • Epidemiology
  • Genetics
  • Neonatology
  • Respiratory Medicine
  • Sleep

Data availability statement

All data relevant to the study are included in the article or uploaded as supplementary information.

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Data availability statement

All data relevant to the study are included in the article or uploaded as supplementary information.

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  • Presented at Some components of the study data were presented at the European Respiratory Society International Congress 2020 and Craniofacial Society of Great Britain and Ireland Annual Scientific Conference 2020. Summary data were published in BPSU annual reports, 2017–2018 and 2018–2019.

  • Contributors MFAW conceptualised and designed the study, designed the data collection instruments, collected the data, conducted the data analysis, drafted the initial manuscript, and acts as guarantor for the study. FVM and SJ contributed to study design and revised the manuscript to provide key intellectual content. MC-B conducted and supervised the data analysis and reviewed and revised the manuscript. RLK supervised the data analysis and interpretation, provided methodological expertise and reviewed and revised the manuscript. DSU conceptualised and designed the study, supervised the data collection and analysis and reviewed and revised the manuscript to provide key intellectual content. Guarantor is MFAW.

  • Funding This study was funded by the Royal College of Paediatrics and Child Health (RCPCH) British Paediatric Surveillance Unit (BPSU) Sir Peter Tizard Research Bursary.

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  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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