Wright, Marie FA; Knowles, Rachel L; Cortina-Borja, Mario; Javadpour, Sheila; Mehendale, Felicity V; Urquhart, Donald S; (2023) Epidemiology of Robin sequence in the UK and Ireland: an active surveillance study. Archives of Disease in Childhood 10.1136/archdischild-2023-325556.

Preview	Text Robin epidemiology_final version.pdf - Accepted Version Download (578kB) | Preview
Preview	Text Supplementary material.pdf - Accepted Version Download (1MB) | Preview

Abstract

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.

Download activity - last month

Export as XMLCSVJSON

Download activity - last 12 months

Export as JSONCSVXML

Downloads by country - last 12 months

Export as CSVXMLJSON

Archive Staff Only

View Item