Researchers:
Dr Robert Coombs, Consultant Neonatologist, Sheffield Teaching Hospitals
Dr Marta Cohen, Consultant Paediatric Pathologist, Sheffield Children’s Hospital
Dr Oliver Quarrell, Consultant Clinical Genetics, Sheffield Teaching Hospitals and Sheffield
Children’s Hospital
Dr Nigel Wheeldon, Consultant Cardiologist, Sheffield Teaching Hospitals
Dr Phillip Cox, Consultant Paediatric Pathologist, Birmingham Women’s Hospital,
NHS Foundation Trust
Dr Irene Scheimberg, Consultant Paediatric Pathologist, Royal London Hospital
Professor Peter Schwartz, Cardiology and Molecular Genetics, University of Pavia, Italy
Project Summary:
SIDS is the greatest risk to infants aged one month to one year. This genetic research could enable – for the first time ever in the UK – babies at risk to be identified via a screening programme and given preventative treatment.
Project Details:
Around 500 infants die suddenly and unexpectedly in the UK each year. In approximately 40% a cause will be found after a thorough investigation and post mortem. When a cause is not found, the designation Sudden Infant Death Syndrome (SIDS) is commonly used. This is often incomprehensible to the parents and makes coming to terms with their grief even harder.
Long QT Syndrome (LQTS), a genetic mutation causing abnormal heart rhythms, is a well-recognised cause of Sudden Adult Death. It is detectable through electrocardiography and, once diagnosed, can be treated. Recently, an Italian genetic study of anonymous SIDS cases in Norway demonstrated that 10% had mutations which cause LQTS in adults, suggesting that the same mutation might also be a cause of sudden death in infants. Researchers now plan to validate and build on these findings by examining similar cases from the UK.
After obtaining informed parental consent, they will screen DNA from 300 SIDS cases for known mutations causing LQTS. Families of cases screened as positive will receive follow up from cardiologists and geneticists to compile a full genetic history and establish whether the mutation was new or inherited. Treatment will be offered to any family members affected.
This landmark research will ultimately inform the debate as to whether all newborns should be offered electrocardiographic screening, as has been proposed elsewhere in Europe. It will also establish a database of DNA from SIDS cases to facilitate future genetic research.
