Symptoms And Possible Treatment Options For Apert Syndrome

According to the National Institutes of Health (NIH, 2013), Apert syndrome is a genetic disease that results in the premature fusion of the sutures between the bones of the skull (craniosynostosis), which causes an abnormally shaped head and face. Apert syndrome accounts for approximately 4.5% of all craniosynostosis syndromes, with an estimated birth prevalence of 1:64,500 (Giancotti et al., 2014, p. 1445). Because children with Apert syndrome exhibit a variety of craniofacial and central nervous system anomalies, many of them are likely to demonstrate severe speech and language difficulties. As a future speech-language pathologist, it is important to be aware of some of the major factors contributing to these children’s speech and language problems in order to better serve them and their families. Thus, in this paper, I will closely examine the causes, signs and symptoms, and possible treatment options for Apert syndrome, as well as explore some of the speech, language, hearing, and other related problems often associated with it. Causes Apert syndrome is caused by a genetic mutation that occurs early on in pregnancy. Recently, researchers at Oxford University identified the specific genetic change that results in the characteristic features of Apert syndrome. They report that slight, specific changes in the genetic makeup of chromosome number 10, known as â€Å"Fibroblast Growth Receptor Factor 2† (FGFR2), causes the rare syndrome. All children receive two