Audiological Characteristics of Noonan Syndrome and Advances in Research on Effects of Cochlear Implant Intervention
CHEN Yuxin
LIU Yuhe
Abstract：Noonan syndrome is a complex congenital malformation syndrome with a prevalence of about 0.4‰～1‰,mostly autosomal dominant involving at least 16 associated causative genes.Patients with PTPN11 gene variants often have hearing loss,which can be sensorineural or conductive,ranging from mild to profound,congenital or acquired,and progressive in some patients.Due to the fact that some patients with Noonan syndrome have abnormal mental development and others can have coagulation abnormalities,indications for cochlear implantation and perioperative management can be tricky.2009 saw the first report of cochlear implantation to improve hearing in patients with Noonan syndrome,although some of the cases reported since then have documented perioperative and intraoperative emergencies and precautions on multiple fronts.The purpose of this article is to review the existing literature and summarize the audiological characteristics in Noonan syndrome patients with hearing loss,as well as precautions and effects of cochlear implantation,with the aim of providing a basis for application of cochlear implantation to improve the hearing in these patients and for future research.
Keywords：Noonan syndromecochlear implantationhearing
Publication Date：2025-04-15
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：6( 283-288 )