RT Journal Article
SR Electronic
T1 Epidemiology and management of Pierre Robin sequence in East Scotland: 10-year retrospective review
JF European Respiratory Journal
JO Eur Respir J
FD European Respiratory Society
SP P1249
VO 44
IS Suppl 58
A1 Marie Wright
A1 Felicity Mehendale
A1 Don Urquhart
YR 2014
UL http://erj.ersjournals.com/content/44/Suppl_58/P1249.abstract
AB Pierre Robin Sequence (PRS) is a congenital disorder characterised by micrognathia, glossoptosis and cleft palate. Sequelae include upper airway obstruction (UAO) and feeding difficulties. Epidemiological data are sparse, but available evidence suggests incidence is 1:8500-1:14000 live births. No consensus exists regarding optimal management. We describe its incidence and management in East Scotland over a 10-year period.We reviewed data from a cohort of PRS cases (2004-2013) identified by searching a regional cleft patient database and national clinical coding data. A denominator was obtained from annually published national birth statistics.105 PRS cases were identified, giving an incidence of 1:2670 live births over a 9-year period (2013 denominator awaited). Incidence varied from 1:1260-1:4390 live births within the region, with a trend of increasing incidence with decreasing latitude. We found no incidence trends over time (median 9 cases/year, range 4-19). PRS was an isolated finding in 75%. Most prevalent syndromes were Stickler (n=7) and Treacher Collins (n=3).Signs of UAO were present in 93%, of whom 84% were managed conservatively or with a nasopharyngeal airway (46%, median duration 4.5 months). 7% required tongue-lip adhesion or tracheostomy. 64% required nasogastric feeding (mean 13 weeks) and 8% a surgical feeding tube.We report an incidence of PRS 3-5 times higher than previously described, validated by the presence of UAO in 93% cases. UAO can be managed non-surgically in most cases, and NPA use appeared effective within our cohort.Funding has been granted for a national surveillance study to investigate incidence, aetiology and management across a wider population.