DIS/TUE/01 THE CHILDREN WITH DOWN’S SYNDROME STUDY: A ROBUST EVIDENCE BASE FOR THE MANAGEMENT OF CHILDREN WITH DOWN SYNDROME

¹R James, ¹T Lightfoot, ¹P Ansell, ³L Miall, ²S Kinsey, ¹E Roman, ⁴S Puri. ¹Epidemiology and Genetics Unit, University of York, York, UK; ²Regional Centre for Paediatric Haematology, Leeds Teaching Hospitals NHS Trust, Leeds, UK; ³Neonatal Unit, Department of Paediatrics, Leeds Teaching Hospitals NHS Trust, Leeds, UK; ⁴Department of Paediatrics, St James’s University Hospital, Leeds, UK

Aim: To establish a population-based cohort of children with Down syndrome (DS) and follow them from birth onwards to investigate their health.

Methods: The study is a collaborative venture between clinicians, epidemiologists, laboratory scientists, the Down’s Syndrome Medical Interest Group and the Down’s Syndrome Association. Following the identification of these key stakeholders, a two-stage wide-ranging consultation process was initiated. In the first stage, the emphasis was on understanding clinical practice in relation to the care of children with DS in their early years. In the second stage families of children with DS were visited and their views sought. The target population is covered by six neonatal network regions (∼175 000 births per annum) in the north of England. After obtaining ethics approval and conducting a successful pilot in one neonatal network area, the study has been extended across the five adjacent neonatal networks. All families with a baby with DS born since 1 May 2006 are eligible. The information collected at birth includes a new-born blood sample, as well permission to contact the parents later and to access their medical records. Follow-up includes the completion of annual health questionnaires and the collection of buccal swabs from family members and blood samples from the child.

Results: To date, the study is recruiting in 52 hospitals across the six networks and 120 families have been recruited. Comparison with data from the National Down’s Syndrome Cytogenetic …