Discipline: Biological Sciences
Jasmine Mckissick - University of Arkansas at Little Rock
Co-Author(s): Yuri Zarate, University of Arkansas for Medical Sciences, Little Rock, AR
Craniosynostosis, the premature fusion of bones in the skull, can cause craniofacial abnormalities, abnormal growth of and pressure on the brain, as well as secondary developmental and behavioral issues. Genetic testing can be used to confirm a diagnosis, help physicians discriminate among similar syndromes, and guide recommendations for the best treatment plan. The objectives of this study were to characterize craniosynostosis patients at a pediatric hospital in the south, assess the amount of genetic testing done on these patients and their results, and increase our knowledge of the varying diagnoses of syndromic craniosynostosis. Our methods were a retrospective analysis of 143 craniosynostosis patients (67% males) that underwent craniofacial reconstructive procedures (97%) or were recommended to have reconstructive procedures. We collected patient information from the hospital’s medical record database and constructed a spreadsheet which categorized demographics, surgery information, genetic testing performed, health conditions, and family history. Our results showed that 41 patients (29%) had multiple sutures affected with the sagittal suture being the most common (33%). Most craniofacial reconstructive procedures (80%) were performed during infancy (median age of six months) with multiple procedures needed in almost 30% of cases. Testing for abnormalities of the FGFR1, FGFR2, FGFR3, and TWIST genes alone or in combination with other genes related to craniofacial development was the most common genetic test performed, followed by microarray studies. A final diagnosis was achieved in 29 patients (20%), with 15 having well described craniofacial syndromes like Crouzon, Saethre-Chotzen, Pfeiffer, Apert, and Carpenter syndromes. Patients with multiple affected sutures were more likely to have been diagnosed with a genetic syndrome (49%) compared to those that had a single suture affected (9%) and patients with developmental delay or other birth defects were more likely to have genetic testing done. Overall, a genetic diagnosis was reached in 20% of patients who had or were recommended for craniosynostosis repair in this study. In conclusion, because only 38% of patients underwent genetic testing, the high yield of abnormal results (29/54=54%) suggests that genetic evaluation could be particularly important in this group. Also, in addition to several less commonly diagnosed syndromes associated with craniosynostosis, we found other conditions that have not been previously linked to this problem. Other conclusions from this study would be that genetic testing is a valuable resource for clinical diagnoses of craniosynostosis and should be implemented more frequently when seeing abnormal facies, developmental delays, and/or other health conditions. This may shed more light on the varying phenotypes of craniosynostosis syndromes. Future studies should include comparing patient outcomes based on genetic testing performed.
References: Kimonis V., Gold J.A., Hoffman T.L., Panchal J., Boyadjiev S. A. 2007. Genetics of Craniosynostosis. Seminars of Pediatric Neurology. 14:150-161.
Cohen M.M., Jr. 2005. Editorial: Perspectives on Craniosynostosis. American Journal of Medical Genetics Part A. 136A:313-326.
Funder Acknowledgement(s): UAMS Department of Pediatrics, Arkansas Children's Hospital Summer Science Program
Faculty Advisor: Jim Winter, firstname.lastname@example.org
Role: I collected patient information from the medical record database and compiled a spreadsheet of data. Once making the spreadsheet, I analyzed the data for relationships dealing with craniosynostosis, genetic testing, and various health conditions.