S14-05 SESSION 14: FACIOCRANIOSYNOSTOSIS – PART III LANGUAGE OUTCOMES IN A RETROSPECTIVE STUDY OF CHILDREN WITH TCF12 MUTATIONS, A SINGLE CENTRE STUDY

Abstract

Introduction: TCF12 mutations are a recent finding in craniosynostotic conditions, predominantly found in coronal synostosis. It accounts for 1% of all craniosynostosis and 17% of non syndromic bicoronal synostosis. As there is very little in the literature reporting on the speech and language outcomes of this group of children, it was felt important to analyse this subgroup of children and report on their language skills. This will help with their multi disciplinary management and parental explanations of associated risks. Methods: A retrospective review was carried out of receptive and expressive language skills in children, who met the criteria for diagnosis of TCF12 mutations; who attend Alder Hey Children’s Hospital Craniofacial Unit, Liverpool, UK. Patients’ medical and speech therapy notes were analysed, including any standardised testing carried out or informal assessment data gathered. In the absence of this data, information was gathered from telephone consultation. Results: 13 subjects met the inclusion criteria as having a positive diagnosis of TCF12 mutations from Sanger sequencing. M-F ratio was M6-F7. Within this cohort, 4 subjects presented with Left coronal synostosis, 4 with Right coronal synostosis, 4 with bicoronal synostosis and one subject had sagittal synostosis. Analysis was divided into 2 sub groups, <24months and >3years. In the first subgroup, 32% (n=4) presented with a delay in either their receptive and/or expressive language skills, whilst this number was 27% (n=3) in the older sub group. Only 11 subjects were included in the second data collection point, as 2 subjects were not yet at the minimum age required. Further analysis is to be done looking at type of synostosis and language delay and also on surgical intervention. Conclusion: This study shows that there is an increase in speech and language delay in children who have TCF12 mutations, greater than that found in the general population. It is an area that requires further investigation and this study represents a single centre report on a population hitherto not widely published on and is a preliminary study to a wider, 4 centre study, currently in progress.