Understanding where clefts come from and which genes are responsible: Does the TBX22 transcription factor play an important role?
An important part of the work of a cleft team is to give genetic advice to families planning a second pregnancy, or for an affected child's future pregnancies. A genetic risk factor (TBX22) causes cleft palate in around 5% of affected babies. We have recently studied this gene in mice and found that the majority suffered from the particular defect called submucous cleft palate. Human patients with this type of cleft have not been previously extensively studied. This project involves collecting DNA samples from patients with cleft palates. We want to find out if mutations in the TBX22 gene are responsible for submucous cleft palate. This will help in further research into the molecular basis and prevention of clefts.
CLEFT has provided £7,500 to evaluate the outcomes of over 200 operations on palates which did not have classical clefts or submucous clefts. The aim is to try to understand which patients will benefit from further surgery.
Medical explanation: Nasal speech results from a problem with the palate, in which it fails to close off against the back wall of the throat and allows air to escape. It may be associated with an unsuccessful palate repair, but not all patients who have nasal speech have had cleft palates.
The North Thames Cleft Team has been pioneers in defining other types of palate abnormality and in surgically correcting them. However, not all of these operations are successful.
3-D Imaging project
CLEFT has provided £7,500 towards a pilot project with Professor Malcolm Birch (Director of Clinical Physics at The Royal London Hospital) to develop techniques for 3-D MRI scanning of the palate.
Medical explanation: Current investigations of palate function involve either X-rays or endoscopy (looking with a telescope at how the palate is functioning). Neither of these investigations gives a three-dimensional view and neither allows the muscles of the palate to be identified.
MRI techniques have improved over recent years and offer the potential for a much better understanding of the function of the palate and its individual muscles. It is hoped that the three-dimensional anatomical information which MRI can offer will enable more comprehensive pre- and post-operative assessments of cleft patients and improve our understanding of how the palate functions.
The Sri Lankan Cleft Lip and Palate Project - translation and transcription of psychological questionnaires
Several members of the North Thames Cleft Team have been very closely involved with Sri Lanka for over 25 years. Recently some members of the team have been back to Sri Lanka to look at the long-term outcomes of children who have been operated on over the years, and as part of this they have undertaken psychology questionnaires which are similar to those which are given to patients in the UK. These need to be translated and transcribed and will then be very valuable in comparing the psychological effects of cleft lip and palate in Sri Lanka and the UK.