Smith A, O'Connor A, Hennessy S, O'Sullivan P G, Gibson L
Department of Paediatrics, Cork University Hospital, Cork, Ireland.
Department of Otolaryngology, South Infirmary Victoria University Hospital, Cork, Ireland.
Ir Med J. 2017 Dec 18;110(10):651.
The Newborn Hearing Screening Programme (NHSP) was established in Cork University Maternity Hospital (CUMH) in April 2011. Between April 2011 and July 2014, 42 infants were identified with a Permanent Childhood Hearing Impairment (PCHI). Following this diagnosis, infants underwent a paediatric assessment according to recognised guidelines with the intention of identifying the underlying aetiology of the PCHI. The aim of this study was to assess the findings of this aetiological workup via retrospective chart review. PCHI data was obtained from the eSP database. This is a web based information system (eSP) used to track each baby through the screening and referral process A retrospective chart review of these patients was performed. Sixteen (38%) infants were diagnosed with a bilateral sensorineural hearing loss. Two infants had congenital CMV infection. A Connexin 26 gene mutation was detected in one infant. Two infants were diagnosed with Waardenburg syndrome, One with Pendred syndrome and one with Pfeiffer syndrome. Five babies underwent cochlear implantation. Through adherence to the recommended protocol a possible cause of PCHI may be determined. This study has identified areas of future improvement for this service in Ireland.
新生儿听力筛查项目（NHSP）于2011年4月在科克大学妇产医院（CUMH）设立。在2011年4月至2014年7月期间，有42名婴儿被确诊患有永久性儿童听力障碍（PCHI）。确诊后，婴儿们按照公认的指南接受了儿科评估，目的是确定PCHI的潜在病因。本研究的目的是通过回顾性病历审查来评估这项病因检查的结果。PCHI数据来自电子筛查项目（eSP）数据库。这是一个基于网络的信息系统（eSP），用于跟踪每个婴儿的筛查和转诊过程。对这些患者进行了回顾性病历审查。16名（38%）婴儿被诊断为双侧感音神经性听力损失。两名婴儿患有先天性巨细胞病毒感染。在一名婴儿中检测到连接蛋白26基因突变。两名婴儿被诊断为瓦登伯革氏综合征，一名患有彭德莱德综合征，一名患有费弗综合征。五名婴儿接受了人工耳蜗植入。通过遵循推荐的方案，可能确定PCHI的病因。本研究确定了爱尔兰这项服务未来需要改进的方面。
