Pierre Robin Sequence
Research type
Research Study
Full title
Pierre Robin Sequence national surveillance study
IRAS ID
171982
Contact name
Marie FA Wright
Contact email
Sponsor organisation
NHS Lothian Research & Development Office
Duration of Study in the UK
2 years, 0 months, 1 days
Research summary
Pierre Robin Sequence (PRS) is a condition present from birth with three main features: a small lower jaw (micrognathia), backward-positioned tongue (glossoptosis), and defect of the roof of the mouth (cleft palate).
Together, these abnormalities can cause airway obstruction and breathing or feeding difficulties. Mild cases are managed by nursing infants in a position that best opens the airway, and using specialised feeding bottles. More severe cases may need temporary feeding tube or artificial airway placement, whilst those worst affected require surgical procedures to maintain a safe airway until ‘catch-up growth' of the jaw occurs.
The causes of PRS are unknown but likely to include genetic factors, toxin exposure (alcohol, drugs) during pregnancy, and compression in utero (twin pregnancy, reduced amniotic fluid volume).There currently is little evidence available regarding the extent of the problem posed by PRS, or how best to manage it. Estimates of its incidence are limited in number and inconsistent.
We aim to investigate the current incidence of PRS within the UK and Ireland by carrying out a national surveillance study in association with the British Paediatric Surveillance Unit (BPSU). The BPSU supports studies of rare childhood disorders of such low incidence as to require cases to be collected nationally in order to generate sufficient numbers for the study. Each month the BPSU send an electronic reporting card ('Orange Card') with a list of conditions under investigation to over 3,300 doctors.
Our study will involve inclusion of PRS on the 'Orange Card' for a 13-month period. During this period, doctors will be asked to report any PRS cases seen in the previous month. Reporting doctors will be sent a questionnaire to collect information about each child's presentation, clinical features and management. A second questionnaire will be sent after 12 months to collect follow-up data about each child.
REC name
South East Scotland REC 02
REC reference
15/SS/0049
Date of REC Opinion
27 Mar 2015
REC opinion
Favourable Opinion